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1. Biomedical articles (top 50; 2009 to 2014)
1. |||||..... 51%  Jedlitschky G, Cattaneo M, Lubenow LE, Rosskopf D, Lecchi A, Artoni A, Motta G, Niessen J, Kroemer HK, Greinacher A: Role of MRP4 (ABCC4) in platelet adenine nucleotide-storage: evidence from patients with delta-storage pool deficiencies. Am J Pathol; 2010 Mar;176(3):1097-103
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Role of MRP4 (ABCC4) in platelet adenine nucleotide-storage: evidence from patients with delta-storage pool deficiencies.
  • We previously showed that the MRP4 (ABCC4) transporter is expressed in human platelet delta-granules and may be involved in ADP transport.
  • We now demonstrate by immunoblotting and immunofluorescence microscopy that platelet MRP4 is absent in two patients with a platelet delta-storage pool deficiency (delta-SPD)-like phenotype with reduced platelet adenine nucleotide (AN) but normal serotonin levels, whereas their other membrane marker proteins of platelet granules were normally expressed and localized.
  • In these patients, MRP4 was present in lymphocytes, and the coding region of their MRP4/ABCC4 gene did not show any mutation that explained the lack of expression.
  • In platelets with "classic" delta-SPD (low AN and serotonin levels), MRP4 was quantitatively (immunoblot) normal, but, like other delta-granules membrane marker proteins (eg, LAMP2), was mostly displaced from delta-granules to patches at the plasma membrane, suggesting that platelets with classic delta-SPD have an abnormality that impairs the assembly of normal delta-granules.
  • Thus, defective expression of platelet MRP4 is associated with selective defect in AN storage.
  • The genetic basis of the new delta-SPD phenotype remains to be elucidated.
  • [MeSH-major] Adenine Nucleotides / metabolism. Blood Platelets / metabolism. Multidrug Resistance-Associated Proteins / metabolism. Platelet Storage Pool Deficiency / metabolism
  • [MeSH-minor] Adolescent. Adult. Female. Gene Expression Regulation. Humans. Leukocytes / metabolism. Male. Phenotype. Platelet Function Tests. Protein Transport. RNA, Messenger / genetics. RNA, Messenger / metabolism. Young Adult

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  • (PMID = 20133816.001).
  • [ISSN] 1525-2191
  • [Journal-full-title] The American journal of pathology
  • [ISO-abbreviation] Am. J. Pathol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / ABCC4 protein, human; 0 / Adenine Nucleotides; 0 / Multidrug Resistance-Associated Proteins; 0 / RNA, Messenger
  • [Other-IDs] NLM/ PMC2832132
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2. ||||...... 41%  Jackson SP, Schoenwaelder SM: Procoagulant platelets: are they necrotic? Blood; 2010 Sep 23;116(12):2011-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Procoagulant platelets: are they necrotic?
  • Apoptosis and necrosis represent distinct cell death processes that regulate mammalian development, physiology and disease.
  • Although anucleate, platelets undergo programmed cell death, with apoptosis playing an important role in clearing effete platelets from the circulation.
  • While it has long been recognized that procoagulant platelets exhibit characteristic features of dying cells, recent studies have demonstrated that platelet procoagulant function can occur independent of apoptosis.
  • A growing body of evidence suggest that the biochemical, morphologic and functional changes underlying agonist-induced platelet procoagulant function are broadly consistent with cell necrosis, raising the possibility that distinct death pathways regulate platelet function and survival.
  • In this article, we will discuss the mechanisms underlying apoptotic and necrotic cell death pathways and examine the evidence linking these pathways to the platelet procoagulant response.
  • We will also discuss the potential contribution of these pathways to the platelet storage lesion and propose a simplified nomenclature to describe procoagulant platelets.
  • [MeSH-major] Blood Platelets / pathology. Necrosis / blood. Thrombophilia / blood
  • [MeSH-minor] Apoptosis. Blood Coagulation. Humans. Inflammation / blood. Platelet Storage Pool Deficiency / etiology

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  • (PMID = 20538794.001).
  • [ISSN] 1528-0020
  • [Journal-full-title] Blood
  • [ISO-abbreviation] Blood
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
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3. ||||...... 40%  Bluteau D, Gilles L, Hilpert M, Antony-Debré I, James C, Debili N, Camara-Clayette V, Wagner-Ballon O, Cordette-Lagarde V, Robert T, Ripoche H, Gonin P, Swierczek S, Prchal J, Vainchenker W, Favier R, Raslova H: Down-regulation of the RUNX1-target gene NR4A3 contributes to hematopoiesis deregulation in familial platelet disorder/acute myelogenous leukemia. Blood; 2011 Dec 8;118(24):6310-20
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  • [Title] Down-regulation of the RUNX1-target gene NR4A3 contributes to hematopoiesis deregulation in familial platelet disorder/acute myelogenous leukemia.
  • Inactivating or dominant-negative mutations in the RUNX1 gene have been also identified in pedigrees of familial platelet disorders with a variable propensity to develop acute myeloid leukemia (FPD/AML).
  • We propose that the down-regulation of NR4A3 in RUNX1-mutated hematopoietic progenitors leads to an increase in the pool of cells susceptible to be hit by secondary leukemic genetic events.
  • [MeSH-major] Core Binding Factor Alpha 2 Subunit / genetics. DNA-Binding Proteins / metabolism. Down-Regulation. Hematopoiesis. Leukemia, Myeloid, Acute / genetics. Platelet Storage Pool Deficiency / genetics. Receptors, Steroid / metabolism. Receptors, Thyroid Hormone / metabolism

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  • (PMID = 21725049.001).
  • [ISSN] 1528-0020
  • [Journal-full-title] Blood
  • [ISO-abbreviation] Blood
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Core Binding Factor Alpha 2 Subunit; 0 / DNA-Binding Proteins; 0 / NR4A3 protein, human; 0 / RUNX1 protein, human; 0 / Receptors, Steroid; 0 / Receptors, Thyroid Hormone
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4. |......... 6%  Amesse LS, Pfaff-Amesse T, Gunning WT, Duffy N, French JA 2nd: Clinical and laboratory characteristics of adolescents with platelet function disorders and heavy menstrual bleeding. Exp Hematol Oncol; 2013;2(1):3
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  • [Title] Clinical and laboratory characteristics of adolescents with platelet function disorders and heavy menstrual bleeding.
  • BACKGROUND: Platelet function disorders (PFDs) have emerged as an important etiology of heavy menstrual bleeding (HMB) in adolescents.
  • The objective of this study was to evaluate these parameters in order to distinguish characteristics of the disorder that in turn will lead to earlier diagnosis and therapy initiation.
  • Interestingly, 20 girls were diagnosed with a PFD prior to menarche and of these, only 6 (30%) went on to develop HMB after pubertal transition, while the majority (14; 70%) did not.
  • The average age-at-PFD diagnosis was 14.5yrs, significantly differing from the 10.9yrs average age-at-PFD diagnosis in their counterparts that, after menarche, did not develop HMB (P<.01) Blood type O occurred significantly more frequently (76%) than national norms (P <.037).
  • Incidence of δ-Storage Pool deficiency (δ-SPD) was significantly higher (74%) than their non-HMB cohorts (45%) (P <.007).
  • In 25.6% for whom standard platelet studies were normal, electron microscopy detected reduced platelet δ-granules numbers (δ-SPD).
  • High false negative standard platelet function study results indicate additional diagnostic strategies, particularly for δ-SPD, should be considered.

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  • (PMID = 23347697.001).
  • [ISSN] 2162-3619
  • [Journal-full-title] Experimental hematology & oncology
  • [ISO-abbreviation] Exp Hematol Oncol
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Other-IDs] NLM/ PMC3584827
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5. |......... 4%  Merideth MA, Vincent LM, Sparks SE, Hess RA, Manoli I, O'Brien KJ, Tsilou E, White JG, Huizing M, Gahl WA: Hermansky-Pudlak syndrome in two African-American brothers. Am J Med Genet A; 2009 May;149A(5):987-92
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism, a bleeding disorder, and, in some patients, granulomatous colitis and/or a fatal pulmonary fibrosis.
  • Both brothers carried compound heterozygous mutations in HPS1: previously reported p.M325WfsX6 (c.972delC) and a novel silent mutation p.E169E (c.507G > A), which resulted in a splice defect.
  • A history of easy bruising or evidence of a bleeding disorder, combined with some degree of hypopigmentation, should prompt investigation into the diagnosis of HPS.
  • [MeSH-minor] Adolescent. Blood Platelets / ultrastructure. Child. Heterozygote. Humans. Iris / pathology. Male. Mutation. Pigmentation. Siblings

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  • (PMID = 19334085.001).
  • [ISSN] 1552-4833
  • [Journal-full-title] American journal of medical genetics. Part A
  • [ISO-abbreviation] Am. J. Med. Genet. A
  • [Language] eng
  • [Grant] United States / NHGRI NIH HHS / HG / Z99 HG999999
  • [Publication-type] Case Reports; Journal Article; Research Support, N.I.H., Intramural
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / HPS1 protein, human; 0 / Membrane Proteins
  • [Other-IDs] NLM/ NIHMS135015; NLM/ PMC2788939
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6. |......... 4%  Gochuico BR, Huizing M, Golas GA, Scher CD, Tsokos M, Denver SD, Frei-Jones MJ, Gahl WA: Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease. Mol Med; 2012;18:56-64
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  • [Title] Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease.
  • Limited information is available about lung disease in HPS type 2 (HPS-2), which is characterized by abnormal function of the adaptor protein-3 (AP-3) complex.
  • To define lung disease in HPS-2, one child and two adults with HPS-2 were evaluated at the National Institutes of Health on at least two visits, and another child was evaluated at the University of Texas Health Science Center San Antonio.
  • All four subjects with HPS-2 had findings of interstitial lung disease (ILD) on a high-resolution computed tomography scan of the chest.
  • Lung biopsy performed at 20 months of age in subject 1 revealed interstitial fibrosis and prominent type II pneumocyte hyperplasia without lamellar body enlargement.
  • Severe impairment of gas exchange was found in subjects 1 and 4 and not in subjects 2 or 3.

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  • (PMID = 22009278.001).
  • [ISSN] 1528-3658
  • [Journal-full-title] Molecular medicine (Cambridge, Mass.)
  • [ISO-abbreviation] Mol. Med.
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, N.I.H., Intramural
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Adaptor Protein Complex 3; Hermansky Pudlak syndrome 2
  • [Other-IDs] NLM/ PMC3269640
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7. |......... 4%  O'Brien K, Troendle J, Gochuico BR, Markello TC, Salas J, Cardona H, Yao J, Bernardini I, Hess R, Gahl WA: Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis. Mol Genet Metab; 2011 Jun;103(2):128-34
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Hermansky-Pudlak syndrome (HPS) is a rare disorder of oculocutaneous albinism, platelet dysfunction, and in some subtypes, fatal pulmonary fibrosis.

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  • [Copyright] Published by Elsevier Inc.
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  • (PMID = 21420888.001).
  • [ISSN] 1096-7206
  • [Journal-full-title] Molecular genetics and metabolism
  • [ISO-abbreviation] Mol. Genet. Metab.
  • [Language] eng
  • [Grant] United States / NHLBI NIH HHS / HL / Z99 HL999999
  • [Publication-type] Clinical Trial; Journal Article; Randomized Controlled Trial; Research Support, N.I.H., Intramural
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Pyridones; D7NLD2JX7U / pirfenidone
  • [Other-IDs] NLM/ NIHMS283859; NLM/ PMC3656407
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9. |||||||||. 436%  Seward SL Jr, Gahl WA: Hermansky-Pudlak syndrome: health care throughout life. Pediatrics; 2013 Jul;132(1):153-60
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease that displays genetic heterogeneity; there are 9 known subtypes.
  • HPS is characterized by oculocutaneous albinism, a platelet storage pool deficiency and resultant bleeding diathesis, and lysosomal accumulation of ceroid lipofuscin.
  • Patients with HPS, specifically those with the genotypes HPS-1, HPS-2, or HPS-4, are predisposed to interstitial lung disease.
  • [MeSH-minor] Albinism, Oculocutaneous / diagnosis. Albinism, Oculocutaneous / epidemiology. Albinism, Oculocutaneous / genetics. Albinism, Oculocutaneous / therapy. Child. Chromosome Aberrations. Cooperative Behavior. Cross-Cultural Comparison. Cross-Sectional Studies. DNA Mutational Analysis. Disability Evaluation. Early Diagnosis. Genes, Recessive. Genotype. Humans. Interdisciplinary Communication. Phenotype. Platelet Storage Pool Deficiency / diagnosis. Platelet Storage Pool Deficiency / epidemiology. Platelet Storage Pool Deficiency / genetics. Platelet Storage Pool Deficiency / therapy. Puerto Rico

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  • (PMID = 23753089.001).
  • [ISSN] 1098-4275
  • [Journal-full-title] Pediatrics
  • [ISO-abbreviation] Pediatrics
  • [Language] eng
  • [Publication-type] Comparative Study; Journal Article; Review
  • [Publication-country] United States
  • [Keywords] NOTNLM ; Hermansky-Pudlak / albinism / platelet storage pool deficiency / standard of care
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10. |||||||||. 436%  Mora AJ, Wolfsohn DM: The management of gastrointestinal disease in Hermansky-Pudlak syndrome. J Clin Gastroenterol; 2011 Sep;45(8):700-2
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] The management of gastrointestinal disease in Hermansky-Pudlak syndrome.
  • Clinically, HPS is characterized by oculocutaneous albinism, platelet storage pool deficiency, and ceroid tissue accumulation.
  • It is a rare disorder that has been described globally but has the highest frequency in a cluster population in Puerto Rico.

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  • (PMID = 21085008.001).
  • [ISSN] 1539-2031
  • [Journal-full-title] Journal of clinical gastroenterology
  • [ISO-abbreviation] J. Clin. Gastroenterol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Anti-Bacterial Agents; 0 / Anti-Inflammatory Agents, Non-Steroidal; 0 / Gastrointestinal Agents; 0 / Steroids
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11. |......... 4%  Zamora AC, Alonso-Martínez D, Barrera L, Mendoza F, Gaxiola M, Carrillo G: [Familial pulmonary fibrosis in 2 Mexican sisters with Hermansky-Pudlak syndrome]. Arch Bronconeumol; 2009 Aug;45(8):408-10
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  • [Transliterated title] Fibrosis pulmonar familiar en 2 hermanas mexicanas con síndrome de Hermansky-Pudlak.
  • Hermansky-Pudlak syndrome is an autosomal recessive disorder commonly found in individuals of Puerto Rican ancestry.

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  • (PMID = 19410348.001).
  • [ISSN] 1579-2129
  • [Journal-full-title] Archivos de bronconeumología
  • [ISO-abbreviation] Arch. Bronconeumol.
  • [Language] spa
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Spain
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12. |......... 4%  Huizing M, Pederson B, Hess RA, Griffin A, Helip-Wooley A, Westbroek W, Dorward H, O'Brien KJ, Golas G, Tsilou E, White JG, Gahl WA: Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6. J Med Genet; 2009 Dec;46(12):803-10
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  • BACKGROUND: In the last decade, Hermansky-Pudlak syndrome (HPS) has arisen as an instructive disorder for cell biologists to study the biogenesis of lysosome related organelles (LROs).
  • Importantly, granulomatous colitis and pulmonary fibrosis, debilitating features present in HPS subtypes 1 and 4, were not detected in our HPS-6 patients.
  • These findings are not only important for providing a prognosis to newly diagnosed HPS-6 patients, but also for further elucidation of HPS function in the biogenesis of LROs.
  • [MeSH-minor] Adolescent. Adult. Amino Acid Sequence. Base Sequence. Blotting, Northern. DNA / chemistry. DNA / genetics. Female. Genetic Variation. Humans. Immunohistochemistry. Male. Melanosomes / genetics. Melanosomes / pathology. Middle Aged. Molecular Sequence Data. Polymerase Chain Reaction. Polymorphism, Single Nucleotide. Young Adult

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  • (PMID = 19843503.001).
  • [ISSN] 1468-6244
  • [Journal-full-title] Journal of medical genetics
  • [ISO-abbreviation] J. Med. Genet.
  • [Language] eng
  • [Grant] United States / NHGRI NIH HHS / HG / ZIA HG000215-09; United States / NHGRI NIH HHS / HG / ZIA HG200322-08
  • [Publication-type] Case Reports; Journal Article; Research Support, N.I.H., Intramural
  • [Publication-country] England
  • [Chemical-registry-number] 0 / HPS6 protein, human; 0 / Intracellular Signaling Peptides and Proteins; 9007-49-2 / DNA
  • [Other-IDs] NLM/ NIHMS420234; NLM/ PMC3500784
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13. |......... 4%  Vincent LM, Adams D, Hess RA, Ziegler SG, Tsilou E, Golas G, O'Brien KJ, White JG, Huizing M, Gahl WA: Hermansky-Pudlak syndrome type 1 in patients of Indian descent. Mol Genet Metab; 2009 Jul;97(3):227-33
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  • [MeSH-minor] Base Sequence. Blood Platelets / ultrastructure. Child. Child, Preschool. DNA Mutational Analysis. Female. Humans. India. Infant. Male. Membrane Proteins / genetics. Molecular Sequence Data

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  • (PMID = 19398212.001).
  • [ISSN] 1096-7206
  • [Journal-full-title] Molecular genetics and metabolism
  • [ISO-abbreviation] Mol. Genet. Metab.
  • [Language] eng
  • [Grant] United States / NHGRI NIH HHS / HG / Z01 HG000215-05
  • [Publication-type] Case Reports; Journal Article; Research Support, N.I.H., Intramural
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / HPS1 protein, human; 0 / Membrane Proteins
  • [Other-IDs] NLM/ NIHMS107542; NLM/ PMC2694228
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14. |......... 4%  Wang L, Lyerla T: Histochemical and cellular changes accompanying the appearance of lung fibrosis in an experimental mouse model for Hermansky Pudlak syndrome. Histochem Cell Biol; 2010 Aug;134(2):205-13
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Hermansky Pudlak syndrome (HPS) is a heterogeneous recessive genetic disease with a tendency to develop lung fibrosis with aging.
  • The HPS double mutant mice, but not Chediak Higashi syndrome (C57BL/6-Lyst ( bg-J )-J, CHS) or C57BL/6J black control (WT) mice, were found to develop lung fibrosis at about 17 months of age using Masson trichrome staining, which was confirmed by hydroxyproline analysis.
  • TGF beta1 levels were elevated in bronchial alveolar lavage samples at all ages tested in the double mutant, but not WT or CHS mice, indicative of a prefibrotic condition in this experimental strain; and AMs were highly positive for this cytokine using immunohistochemistry staining.
  • [MeSH-major] Disease Models, Animal. Hermanski-Pudlak Syndrome / pathology. Pulmonary Fibrosis / pathology

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  • (PMID = 20603711.001).
  • [ISSN] 1432-119X
  • [Journal-full-title] Histochemistry and cell biology
  • [ISO-abbreviation] Histochem. Cell Biol.
  • [Language] eng
  • [Grant] United States / NHLBI NIH HHS / HL / R15 HL091503-01
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Transforming Growth Factor beta1
  • [Other-IDs] NLM/ PMC2909458
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15. |......... 4%  Young LR, Gulleman PM, Bridges JP, Weaver TE, Deutsch GH, Blackwell TS, McCormack FX: The alveolar epithelium determines susceptibility to lung fibrosis in Hermansky-Pudlak syndrome. Am J Respir Crit Care Med; 2012 Nov 15;186(10):1014-24
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  • Naturally occurring HPS mice reliably model important features of the human disease, including constitutive alveolar macrophage activation and susceptibility to profibrotic stimuli.
  • To directly test the contribution of the pulmonary epithelium, we developed a transgenic model with epithelial-specific correction of the HPS2 defect in an HPS mouse model.
  • Furthermore, transgenic epithelial-specific correction of the HPS defect significantly attenuated bleomycin-induced alveolar epithelial apoptosis, fibrotic susceptibility, and macrophage activation.
  • [MeSH-major] Genetic Predisposition to Disease. Hermanski-Pudlak Syndrome / genetics. Pulmonary Alveoli / physiopathology. Pulmonary Fibrosis / physiopathology. Respiratory Mucosa / physiopathology

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  • (PMID = 23043085.001).
  • [ISSN] 1535-4970
  • [Journal-full-title] American journal of respiratory and critical care medicine
  • [ISO-abbreviation] Am. J. Respir. Crit. Care Med.
  • [Language] eng
  • [Grant] United States / NHLBI NIH HHS / HL / HL68861; United States / NHLBI NIH HHS / HL / HL85317; United States / NHLBI NIH HHS / HL / HL92870; United States / NHLBI NIH HHS / HL / K08 HL082757; United States / NHLBI NIH HHS / HL / R01 HL085317; United States / NHLBI NIH HHS / HL / R01 HL103923
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Adaptor Protein Complex 3; 11056-06-7 / Bleomycin
  • [Other-IDs] NLM/ PMC3530211
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16. |||||||||. 433%  Spencer J, Rosengren S: Hermansky-Pudlak syndrome in pregnancy. Am J Perinatol; 2009 Oct;26(9):617-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Hermansky-Pudlak syndrome (HPS) is a multisystem, autosomal-recessive disorder characterized by oculocutaneous albinism, platelet storage pool deficiency resulting in prolonged bleeding, and ceroid lipofuscin deposition.


17. |||||||||. 425%  Harris-Glocker M, Thornburg LL, Pressman EK: Hermansky-Pudlak syndrome in a pregnant patient: a case report. J Reprod Med; 2013 May-Jun;58(5-6):267-70
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • BACKGROUND: Hermansky-Pudlak syndrome (HPS), a rare autosomal-recessive disorder encompassing multiple organs, is characterized by oculocutaneous albinism, platelet storage pool deficiency resulting in bleeding diathesis, and ceroid lipofuscin deposition which can lead to pulmonary fibrosis, colitis, cardiomyopathy and renal failure.
  • CASE: We present the case of a patient with HPS also complicated by spontaneous triplet pregnancy.
  • [MeSH-minor] Adult. Albinism, Oculocutaneous. Cesarean Section. Deamino Arginine Vasopressin / administration & dosage. Female. Gestational Age. Hemostatics. Humans. Platelet Storage Pool Deficiency. Pregnancy. Pregnancy Outcome. Premature Birth

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  • (PMID = 23763015.001).
  • [ISSN] 0024-7758
  • [Journal-full-title] The Journal of reproductive medicine
  • [ISO-abbreviation] J Reprod Med
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Hemostatics; ENR1LLB0FP / Deamino Arginine Vasopressin
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19. |||||||||. 389%  Vo KT, Grooms L, Klima J, Holland-Hall C, O'Brien SH: Menstrual bleeding patterns and prevalence of bleeding disorders in a multidisciplinary adolescent haematology clinic. Haemophilia; 2013 Jan;19(1):71-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Sixty-two per cent of patients were diagnosed with a bleeding disorder, including platelet storage pool deficiency (36%), von Willebrand's disease (9%), other platelet function defect (8%), Ehlers-Danlos syndrome (7%) and combined bleeding disorders (2%).
  • Comparison of the bleeding profiles for females with and without a bleeding disorder revealed only three factors that were significantly different, including the reported regularity of patients' periods (P = 0.02), description of period flow (P = 0.04) and number of days of each period that the bleeding was described as 'heavy' (P = 0.007).
  • Specifically, a relatively high proportion of adolescents were diagnosed with platelet storage pool deficiency.
  • In our small population, menstrual bleeding profiles, as examined by a standardized questionnaire, could not identify females with an underlying bleeding disorder, demonstrating the important role of haemostasis testing in the evaluation of adolescents with HMB.
  • [MeSH-minor] Adolescent. Child. Female. Humans. Ohio / epidemiology. Platelet Storage Pool Deficiency / complications. Prevalence. Retrospective Studies

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  • [Copyright] © 2012 Blackwell Publishing Ltd.
  • (PMID = 23005346.001).
  • [ISSN] 1365-2516
  • [Journal-full-title] Haemophilia : the official journal of the World Federation of Hemophilia
  • [ISO-abbreviation] Haemophilia
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
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23. |||||||||. 257%  Carmona-Rivera C, Hess RA, O'Brien K, Golas G, Tsilou E, White JG, Gahl WA, Huizing M: Novel mutations in the HPS1 gene among Puerto Rican patients. Clin Genet; 2011 Jun;79(6):561-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Hermansky-Pudlak syndrome (HPS) is a disorder of oculocutaneous albinism (OCA) and platelet storage pool deficiency.
  • Eight different disease-causing genes have been identified, whose gene products are thought to be involved in the biogenesis of lysosome-related organelles.
  • This mutation resulted in activation of a cryptic intronic splice site causing an aberrantly spliced HPS1 mRNA that included 144-bp of intronic sequence, producing 11 novel amino acids followed by a stop codon.

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  • [Copyright] Published 2010. This article is a US Government work and is in the public domain in the USA.
  • (PMID = 20662851.001).
  • [ISSN] 1399-0004
  • [Journal-full-title] Clinical genetics
  • [ISO-abbreviation] Clin. Genet.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural
  • [Publication-country] Denmark
  • [Chemical-registry-number] 0 / HPS1 protein, human; 0 / Membrane Proteins
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24. |||||||||. 124%  Masliah-Planchon J, Darnige L, Bellucci S: Molecular determinants of platelet delta storage pool deficiencies: an update. Br J Haematol; 2013 Jan;160(1):5-11
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Molecular determinants of platelet delta storage pool deficiencies: an update.
  • Delta storage pool deficiency (δ-SPD) is a rare heterogeneous group of platelet disorders characterized by a reduction in the number or content of dense granules.
  • However, during the last few years, important insights into the pathophysiology of δ-SPD have been achieved using mouse models and dense granule deficiency-associated congenital diseases, such as Hermansky-Pudlak syndrome and Chediak-Higashi syndrome.
  • [MeSH-major] Platelet Storage Pool Deficiency / genetics

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  • [Copyright] © 2012 Blackwell Publishing Ltd.
  • (PMID = 23025459.001).
  • [ISSN] 1365-2141
  • [Journal-full-title] British journal of haematology
  • [ISO-abbreviation] Br. J. Haematol.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] England
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25. |||||||||. 114%  De Leeuw M, Beuls E, Jorens P, Parizel P, Jacobs W: Delta-storage pool disease as a mimic of abusive head trauma in a 7-month-old baby: a case report. J Forensic Leg Med; 2013 Jul;20(5):520-1
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Delta-storage pool disease as a mimic of abusive head trauma in a 7-month-old baby: a case report.
  • Eventually, platelet aggregation tests and electron microscopy diagnosed a delta-storage pool disease; that is, a haemostatic disorder involving dense granules of the platelets.
  • Initial minor blunt trauma may have resulted in subdural bleeding, while subsequent retinal haemorrhage could have been facilitated by the underlying haemostatic disorder.
  • Delta-storage pool disease should be considered as a possible mimic of abusive head trauma similar to other rare conditions such as Menkes disease and type 1 glutaric aciduria.
  • [MeSH-major] Platelet Storage Pool Deficiency / diagnosis
  • [MeSH-minor] Child Abuse / diagnosis. Diagnosis, Differential. Forensic Medicine. Hematoma, Subdural / etiology. Humans. Infant. Male. Microscopy, Electron. Platelet Function Tests. Retinal Hemorrhage / etiology. Shaken Baby Syndrome / diagnosis

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  • [Copyright] Copyright © 2013 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.
  • [CommentIn] J Forensic Leg Med. 2013 Nov;20(8):1149-50 [24237842.001]
  • (PMID = 23756525.001).
  • [ISSN] 1878-7487
  • [Journal-full-title] Journal of forensic and legal medicine
  • [ISO-abbreviation] J Forensic Leg Med
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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26. ||||||.... 64%  Ringeisen AL, Schimmenti LA, White JG, Schoonveld C, Summers CG: Hermansky-Pudlak syndrome (HPS5) in a nonagenarian. J AAPOS; 2013 Jun;17(3):334-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Hermansky-Pudlak syndrome (HPS) is an autosomal-recessive disorder clinically characterized by oculocutaneous albinism, bleeding diatheses, and lysosomal accumulation of ceroid lipofuscin, which in some cases may cause granulomatous colitis and pulmonary fibrosis.
  • This report highlights the importance of typing HPS to counsel patients regarding disease prognosis.
  • [MeSH-minor] Aged, 80 and over. Albinism, Oculocutaneous / diagnosis. Hemorrhage / diagnosis. Humans. Male. Platelet Storage Pool Deficiency / diagnosis. Pulmonary Fibrosis / diagnosis. Visual Acuity

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  • [Copyright] Copyright © 2013 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.
  • (PMID = 23607980.001).
  • [ISSN] 1528-3933
  • [Journal-full-title] Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus
  • [ISO-abbreviation] J AAPOS
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Carrier Proteins; 0 / HPS5 protein, human
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27. ||||||.... 63%  Brodsky MA, Machovec KA, Chambers BP, Nielsen VG: Platelet-mediated thrombolysis in patients with δ-storage pool deficiency: a thrombelastographic analysis. Blood Coagul Fibrinolysis; 2011 Oct;22(7):610-2
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Platelet-mediated thrombolysis in patients with δ-storage pool deficiency: a thrombelastographic analysis.
  • We present the first thrombelastographic descriptions of three patients with δ-storage pool deficiency, a platelet disorder that involves a deficiency of dense granules and moderate bleeding.
  • The patients demonstrated a 49-54% loss of platelet-mediated clot strength over a 1-2-h period after normal thrombus formation.
  • This pattern persisted, with some attenuation of loss of strength following administration of epsilon aminocaproic acid, desmopressin and platelets for tonsillectomy.
  • Assessment of platelet function in patients with platelet granule disorders can be accomplished with thrombelastographic methods in ambulatory and perioperative settings; however, the effects of therapy for this disorder cannot be monitored with thrombelastography without obtaining a blood sample prior to prophylactic hemostatic intervention.
  • [MeSH-major] Blood Platelets / drug effects. Hemostasis / drug effects. Hemostatics / administration & dosage. Platelet Storage Pool Deficiency / blood. Platelet Storage Pool Deficiency / drug therapy. Thrombelastography / methods
  • [MeSH-minor] Adolescent. Aminocaproic Acid / administration & dosage. Aminocaproic Acid / therapeutic use. Cytoplasmic Granules. Deamino Arginine Vasopressin / administration & dosage. Deamino Arginine Vasopressin / therapeutic use. Female. Fibrinolysis / drug effects. Humans. Male. Platelet Aggregation / drug effects. Platelet Count. Platelet Transfusion. Tonsillectomy

  • HSDB. structure - 6-AMINOCAPROIC ACID.
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  • (PMID = 21822127.001).
  • [ISSN] 1473-5733
  • [Journal-full-title] Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis
  • [ISO-abbreviation] Blood Coagul. Fibrinolysis
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Hemostatics; ENR1LLB0FP / Deamino Arginine Vasopressin; U6F3787206 / Aminocaproic Acid
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28. ||||||.... 59%  Rajpal G, Pomerantz JM, Ragni MV, Waters JH, Vallejo MC: The use of thromboelastography for the peripartum management of a patient with platelet storage pool disorder. Int J Obstet Anesth; 2011 Apr;20(2):173-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] The use of thromboelastography for the peripartum management of a patient with platelet storage pool disorder.
  • We describe the peripartum management of a 26-year-old primigravida with a platelet storage pool disorder who underwent spontaneous vaginal delivery of twins with epidural analgesia.
  • The use of thromboelastography in the assessment and management of bleeding risk in the setting of platelet storage pool disorder is described.
  • [MeSH-major] Platelet Storage Pool Deficiency / blood. Postpartum Hemorrhage / therapy. Pregnancy Complications / blood. Thrombelastography / methods

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  • [Copyright] Copyright © 2010 Elsevier Ltd. All rights reserved.
  • [CommentIn] Int J Obstet Anesth. 2011 Oct;20(4):368-9 [21907567.001]
  • [CommentIn] Int J Obstet Anesth. 2011 Oct;20(4):360; author reply 361 [21839631.001]
  • (PMID = 21168326.001).
  • [ISSN] 1532-3374
  • [Journal-full-title] International journal of obstetric anesthesia
  • [ISO-abbreviation] Int J Obstet Anesth
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Netherlands
  • [Chemical-registry-number] ENR1LLB0FP / Deamino Arginine Vasopressin
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29. ||||...... 44%  White JG, Thomas A: Platelet structural pathology in a patient with the X-linked GATA-1, R216Q mutation. Platelets; 2009 Feb;20(1):41-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Platelet structural pathology in a patient with the X-linked GATA-1, R216Q mutation.
  • Some of the pathological features observed in macrothrombocytes from patients with the V205M and G208S variations including hypo- and agranular platelets, tubular inclusions and platelets within platelets, as well as platelets within platelets within platelets were identified.
  • However, tubular membrane sheets in megakaryocytes and platelets of the V205M and G208S types and large groups of platelets attached to platelets to form megathrombocytes were not observed.
  • The unique pathology of the megathrombocytes from this patient was the near absence of dense bodies in his giant cells.
  • Storage Pool Deficiency, together with large platelets, defective adhesion and aggregation of his macrocytes under shear stress to vWF and collagen and defective clot retraction may contribute to the pathogenesis of his bleeding disorder.
  • [MeSH-major] Blood Platelets / pathology. GATA1 Transcription Factor / genetics. Genes, X-Linked / genetics. Hemorrhagic Disorders / pathology. Mutation, Missense
  • [MeSH-minor] Cell Shape. Cell Size. Cytoplasmic Granules / ultrastructure. Cytoplasmic Structures / ultrastructure. Humans. Intracellular Space / ultrastructure. Male. Microbodies / ultrastructure. Microscopy, Electron, Transmission. Platelet Adhesiveness. Platelet Aggregation. Platelet Storage Pool Deficiency / complications. Platelet Storage Pool Deficiency / etiology. Platelet Storage Pool Deficiency / pathology

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  • (PMID = 19172521.001).
  • [ISSN] 1369-1635
  • [Journal-full-title] Platelets
  • [ISO-abbreviation] Platelets
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] 0 / GATA1 Transcription Factor
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30. ||||...... 43%  Di Michele M, Thys C, Waelkens E, Overbergh L, D'Hertog W, Mathieu C, De Vos R, Peerlinck K, Van Geet C, Freson K: An integrated proteomics and genomics analysis to unravel a heterogeneous platelet secretion defect. J Proteomics; 2011 May 16;74(6):902-13
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] An integrated proteomics and genomics analysis to unravel a heterogeneous platelet secretion defect.
  • Eight patients with clinical bleeding problems have evidence for platelet storage pool disease as they present with impaired platelet aggregation and secretion with low concentrations of ADP and collagen and an absence of second phase aggregation with epinephrine.
  • Electron microscopy analysis further showed a reduced but not absent amount of platelet dense granules, and CD63 staining was decreased compared to healthy controls.
  • The presence of alpha granules and CD62P expression after platelet activation was normal.
  • This work aimed at identifying differentially expressed proteins in the platelet releasate and its remaining pellet after activation with A23187 and TRAP in patients and controls using DIGE-based proteomic technology.
  • In addition, 29 cytoskeleton-related genes showed an altered expression in platelet mRNA from patients using a real-time PCR array.
  • In conclusion, our study shows that the dense granule secretion defect in patients with platelet storage pool disease is highly heterogeneous with evidence of an underlying cytoskeleton defect.
  • [MeSH-major] Blood Platelets / metabolism. Cytoskeletal Proteins / genetics. Genomics. Platelet Storage Pool Deficiency / metabolism. Proteomics
  • [MeSH-minor] Adolescent. Adult. Calcimycin / pharmacology. Child. Cytoplasmic Granules / metabolism. Electrophoresis, Gel, Two-Dimensional. Female. Humans. Male. Middle Aged. Platelet Aggregation. RNA, Messenger / blood

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  • [Copyright] Copyright © 2011 Elsevier B.V. All rights reserved.
  • (PMID = 21406263.001).
  • [ISSN] 1876-7737
  • [Journal-full-title] Journal of proteomics
  • [ISO-abbreviation] J Proteomics
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / Cytoskeletal Proteins; 0 / RNA, Messenger; 37H9VM9WZL / Calcimycin
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31. ||||...... 41%  Wei AH, Schoenwaelder SM, Andrews RK, Jackson SP: New insights into the haemostatic function of platelets. Br J Haematol; 2009 Nov;147(4):415-30
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] New insights into the haemostatic function of platelets.
  • Considerable progress has been made over the last two decades in delineating the key molecular events regulating the haemostatic function of platelets.
  • Much of this new insight has been derived from the study of mouse models, in which the expression or structure of one or more platelet proteins has been genetically altered.
  • There is a dearth of literature available to help physicians integrate and apply the burgeoning knowledge on platelet biology to diagnosing patients with atypical or unexplained platelet dysfunction.
  • The purpose of this review is to summarise the major primary platelet disorders relevant to pathological bleeding in humans (excluding those primarily due to thrombocytopenia or acquired functional disorders), with a focus on lesions identified in mouse models that could represent candidate molecules for study in patients with impaired platelet function.
  • [MeSH-major] Blood Platelets / physiology. Hemostasis / physiology
  • [MeSH-minor] Animals. Blood Platelet Disorders / blood. Humans. Mice. Platelet Adhesiveness / physiology. Platelet Aggregation / physiology. Platelet Storage Pool Deficiency / blood

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  • (PMID = 19656155.001).
  • [ISSN] 1365-2141
  • [Journal-full-title] British journal of haematology
  • [ISO-abbreviation] Br. J. Haematol.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] England
  • [Number-of-references] 130
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32. ||||...... 37%  Gunning W, Dole M, Brecher M, White JG: The Medich giant platelet syndrome: two new cases. Platelets; 2013;24(2):107-12
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] The Medich giant platelet syndrome: two new cases.
  • Hypogranular platelet disorders in human subjects are relatively rare.
  • They include the gray platelet syndrome, αδ storage pool deficiency, the Hermansky-Pudlak syndrome, and the white platelet syndrome.
  • Perhaps the rarest of them all is the Medich giant platelet disorder.
  • This study describes two children with thrombocytopenia and giant, hypogranular platelets found shortly after birth.
  • Electron microscopic study of their platelets revealed sheets of membrane wrapped into tubes resembling scrolls.
  • As a result, the disorder can now be referred to as the Medich giant platelet syndrome.
  • [MeSH-major] Bernard-Soulier Syndrome / diagnosis. Blood Platelet Disorders / congenital. Hermanski-Pudlak Syndrome / diagnosis. Platelet Storage Pool Deficiency / diagnosis
  • [MeSH-minor] Blood Platelets / ultrastructure. Female. Humans. Male. Thrombocytopenia / diagnosis

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  • (PMID = 22931192.001).
  • [ISSN] 1369-1635
  • [Journal-full-title] Platelets
  • [ISO-abbreviation] Platelets
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
  • [Chemical-registry-number] White platelet syndrome
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33. |||....... 30%  Kirchmaier CM, Pillitteri D: [Congenital thrombocytopathies]. Internist (Berl); 2010 Sep;51(9):1109-14, 1116-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Inherited thrombocytopathies are much less frequent in comparison to acquired platelet function disorders.
  • However, congenital disorders can lead to severe bleeding tendency and are often not diagnosed.
  • They are induced by different platelet defects based on disorders of platelet adhesion, receptors, secretion and signal transduction.
  • In some cases they are associated with thrombocytopenia, giant platelets and various comorbidities.
  • [MeSH-major] Blood Platelet Disorders / genetics. Blood Platelets / physiology. Genotype. Hemorrhagic Disorders / genetics
  • [MeSH-minor] Bernard-Soulier Syndrome / blood. Bernard-Soulier Syndrome / diagnosis. Bernard-Soulier Syndrome / genetics. Bernard-Soulier Syndrome / therapy. Diagnosis, Differential. Humans. Mass Screening. Platelet Aggregation / genetics. Platelet Aggregation / physiology. Platelet Function Tests. Platelet Storage Pool Deficiency / blood. Platelet Storage Pool Deficiency / diagnosis. Platelet Storage Pool Deficiency / genetics. Platelet Storage Pool Deficiency / therapy. Prostaglandin-Endoperoxide Synthases / genetics. Receptors, Collagen / genetics. Receptors, Collagen / physiology. Thrombasthenia / blood. Thrombasthenia / diagnosis. Thrombasthenia / genetics. Thrombasthenia / therapy. Thromboxane-A Synthase / genetics

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  • (PMID = 20725709.001).
  • [ISSN] 1432-1289
  • [Journal-full-title] Der Internist
  • [ISO-abbreviation] Internist (Berl)
  • [Language] ger
  • [Publication-type] English Abstract; Journal Article; Review
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Receptors, Collagen; EC 1.14.99.1 / Prostaglandin-Endoperoxide Synthases; EC 5.3.99.5 / Thromboxane-A Synthase
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35. |||....... 28%  Hernández-Ruiz L, Sáez-Benito A, Pujol-Moix N, Rodríguez-Martorell J, Ruiz FA: Platelet inorganic polyphosphate decreases in patients with delta storage pool disease. J Thromb Haemost; 2009 Feb;7(2):361-3
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Platelet inorganic polyphosphate decreases in patients with delta storage pool disease.
  • [MeSH-major] Platelet Storage Pool Deficiency / metabolism. Polyphosphates / metabolism
  • [MeSH-minor] Blood Platelets / chemistry. Case-Control Studies. Humans

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  • (PMID = 19036063.001).
  • [ISSN] 1538-7836
  • [Journal-full-title] Journal of thrombosis and haemostasis : JTH
  • [ISO-abbreviation] J. Thromb. Haemost.
  • [Language] eng
  • [Publication-type] Letter; Research Support, Non-U.S. Gov't
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Polyphosphates
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37. |||....... 27%  Masliah-Planchon J, Bellucci S, Darnige L, Callebert J, Fischer AM, Tapon-Bretaudière J: Absence of mutation in the RAB27B gene in patients with platelet delta-storage pool deficiency. Eur J Haematol; 2011 Apr;86(4):350-1
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Absence of mutation in the RAB27B gene in patients with platelet delta-storage pool deficiency.
  • [MeSH-major] Platelet Storage Pool Deficiency / genetics. rab GTP-Binding Proteins / genetics
  • [MeSH-minor] Adult. Child. Child, Preschool. DNA Mutational Analysis. Female. Genetic Testing. Humans. Male. Mutation. Platelet Aggregation / genetics

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  • (PMID = 21198862.001).
  • [ISSN] 1600-0609
  • [Journal-full-title] European journal of haematology
  • [ISO-abbreviation] Eur. J. Haematol.
  • [Language] eng
  • [Publication-type] Letter
  • [Publication-country] England
  • [Chemical-registry-number] EC 3.6.1.- / rab GTP-Binding Proteins; EC 3.6.1.-. / Rab27B protein, human
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38. |||....... 25%  Campbell J, Yentis S: The use of thromboelastography for the peripartum management of a patient with platelet storage pool disorder. Int J Obstet Anesth; 2011 Oct;20(4):360; author reply 361
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] The use of thromboelastography for the peripartum management of a patient with platelet storage pool disorder.
  • [MeSH-major] Platelet Storage Pool Deficiency / blood. Postpartum Hemorrhage / therapy. Pregnancy Complications / blood. Thrombelastography / methods

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  • [CommentOn] Int J Obstet Anesth. 2011 Apr;20(2):173-7 [21168326.001]
  • [ErratumIn] Int J Obstet Anesth. 2012 Jan;21(1):103
  • (PMID = 21839631.001).
  • [ISSN] 1532-3374
  • [Journal-full-title] International journal of obstetric anesthesia
  • [ISO-abbreviation] Int J Obstet Anesth
  • [Language] eng
  • [Publication-type] Comment; Letter
  • [Publication-country] Netherlands
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39. ||........ 21%  Gauthama P, Maybury H, Brooks H: Management of a parturient with TAR syndrome during caesarean section and the use of thromboelastography. Int J Obstet Anesth; 2011 Oct;20(4):368-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Management of a parturient with TAR syndrome during caesarean section and the use of thromboelastography.
  • [MeSH-major] Platelet Storage Pool Deficiency / blood. Postpartum Hemorrhage / therapy. Pregnancy Complications / blood. Thrombelastography / methods

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  • [CommentOn] Int J Obstet Anesth. 2011 Apr;20(2):173-7 [21168326.001]
  • (PMID = 21907567.001).
  • [ISSN] 1532-3374
  • [Journal-full-title] International journal of obstetric anesthesia
  • [ISO-abbreviation] Int J Obstet Anesth
  • [Language] eng
  • [Publication-type] Comment; Letter
  • [Publication-country] Netherlands
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40. ||........ 18%  Agarwal U, Zaid RZ, Kadir RA: Uterine artery embolization: an approach to achieve haemostasis in post hysterectomy haemorrhages. Haemophilia; 2009 Jan;15(1):357-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [MeSH-major] Hysterectomy / adverse effects. Platelet Storage Pool Deficiency / complications. Postoperative Hemorrhage / therapy. Uterine Artery Embolization / methods

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  • (PMID = 18721152.001).
  • [ISSN] 1365-2516
  • [Journal-full-title] Haemophilia : the official journal of the World Federation of Hemophilia
  • [ISO-abbreviation] Haemophilia
  • [Language] eng
  • [Publication-type] Case Reports; Letter
  • [Publication-country] England
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41. |......... 14%  Nisal M, Pavord S, Oppenheimer CA, Francis S, Khare M: Hermansky-Pudlak syndrome: management of a rare bleeding disorder in a twin pregnancy. J Obstet Gynaecol; 2012 Feb;32(2):185-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Hermansky-Pudlak syndrome: management of a rare bleeding disorder in a twin pregnancy.
  • [MeSH-major] Hermanski-Pudlak Syndrome / therapy. Platelet Storage Pool Deficiency / therapy. Pregnancy Complications, Hematologic / therapy. Pregnancy, Twin

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  • (PMID = 22296434.001).
  • [ISSN] 1364-6893
  • [Journal-full-title] Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology
  • [ISO-abbreviation] J Obstet Gynaecol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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42. |......... 9%  Seligsohn U: Treatment of inherited platelet disorders. Haemophilia; 2012 Jul;18 Suppl 4:161-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Treatment of inherited platelet disorders.
  • For patients affected by severe inherited platelet dysfunctions, e.g.
  • Glanzmann thrombasthenia (GT) or Bernard-Soulier syndrome (BSS), platelet transfusion is frequently needed for controlling spontaneous bleeding, and is always needed when trauma occurs or surgery is performed.
  • For the mild-to-moderate bleeding entities, e.g. storage pool disease, thrombaxane A2 receptor defect, platelet transfusion is usually unnecessary.
  • Transfusion of platelets should be used selectively and sparingly because of the substantial risk of alloimmunization against HLA antigens and/or platelet glycoproteins (GP) αIIb, β(3), or αIIbβ(3) in GT, and GPI-IX-V in BSS, which may lead to refractoriness to therapy.
  • To reduce the risk, HLA-matched single donors of platelets should be used.
  • Therapy other than platelet transfusion includes: (i) Prevention (vaccination against hepatitis B, avoidance of non-steroidal anti-inflammatory drugs, preservation of dental hygiene, correction of iron deficiency and prenatal diagnosis). (ii) Topical measures (compression with gauze soaked with tranexamic acid, fibrin sealants, splints for dental extractions and packing for nose bleeds). (iii) Antifibrinolytic agents that are useful for minor surgery and as adjuncts for other treatment modalities. (iv) Desmopressin that increases plasma levels of von Willebrand factor and factor VIII giving rise to increased platelet adhesiveness and aggregation associated with shortened bleeding time. (v) Recombinant factor VIIa (rFVIIa).
  • The mechanism by which rFVIIa arrests bleeding is probably related to increased thrombin generation by a tissue factor-independent process, enhanced platelet adhesion and restoration of platelet aggregation. (vi) Female hormones.
  • [MeSH-major] Blood Coagulation Disorders, Inherited / therapy. Blood Platelet Disorders / therapy
  • [MeSH-minor] Antifibrinolytic Agents / therapeutic use. Coagulants / therapeutic use. Factor VIIa / therapeutic use. Female. Hematopoietic Stem Cell Transplantation. Hormones / therapeutic use. Humans. Male. Platelet Transfusion. Pregnancy. Pregnancy Complications, Hematologic / therapy. Recombinant Proteins / therapeutic use

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  • [Copyright] © 2012 Blackwell Publishing Ltd.
  • (PMID = 22726101.001).
  • [ISSN] 1365-2516
  • [Journal-full-title] Haemophilia : the official journal of the World Federation of Hemophilia
  • [ISO-abbreviation] Haemophilia
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Antifibrinolytic Agents; 0 / Coagulants; 0 / Hormones; 0 / Recombinant Proteins; 0 / recombinant FVIIa; EC 3.4.21.21 / Factor VIIa
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43. |......... 9%  McGlasson DL, Fritsma GA: Whole blood platelet aggregometry and platelet function testing. Semin Thromb Hemost; 2009 Mar;35(2):168-80
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Whole blood platelet aggregometry and platelet function testing.
  • Platelet aggregometry has been the reference method employed to detect, diagnose, and monitor qualitative platelet disorders since the early 1960s.
  • Lumiaggregometry and impedance-based whole blood lumiaggregometry have advantages over light transmittance aggregometry in that they provide for enhanced specimen management and increase the test sensitivity to impairment of platelet granule secretion.
  • Whole blood lumiaggregometry detects and identifies congenital and acquired platelet plasma membrane receptor defects, metabolic pathway secretion disorders, and storage pool deficiency.
  • There is growing interest in using impedance-based whole blood lumiaggregometry for near-patient whole blood platelet analysis and antiplatelet therapy monitoring.
  • This article will also discuss other whole blood testing processes for assessing platelet function, particularly as applied to assessing the effect of antiplatelet medication.
  • [MeSH-major] Blood Platelet Disorders / diagnosis. Platelet Aggregation / physiology. Platelet Function Tests / methods
  • [MeSH-minor] Blood Platelets / physiology. Humans

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  • (PMID = 19408190.001).
  • [ISSN] 1098-9064
  • [Journal-full-title] Seminars in thrombosis and hemostasis
  • [ISO-abbreviation] Semin. Thromb. Hemost.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] United States
  • [Number-of-references] 93
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44. |......... 8%  Weiss HJ: Impaired platelet procoagulant mechanisms in patients with bleeding disorders. Semin Thromb Hemost; 2009 Mar;35(2):233-41
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Impaired platelet procoagulant mechanisms in patients with bleeding disorders.
  • Activated platelets contribute to the arrest of bleeding by forming aggregates at sites of vascular injury and by providing a surface for assembling enzyme complexes involved in fibrin formation (platelet procoagulant activity; PCA).
  • Impairment in the latter property of platelets has been observed in some disorders of hemostasis.
  • In Scott syndrome, there is a defect in membrane vesiculation and in the surface expression of phosphatidylserine (PS), the phospholipid that is necessary for assembling the factor VIIIa/IXa (tenase) and factor Va/Xa (prothrombinase) complexes involved in thrombin formation.
  • A family with an isolated defect in vesiculation, but normal prothrombinase activity, has also been reported.
  • In the Quebec platelet disorder, overexpression of the fibrinolytic enzyme urokinase-type plasminogen activator results in the degradation of alpha-granule proteins, including factor V, and a specific abnormality in platelet factor V is the basis for the prothrombinase defect in platelet factor V-New York.
  • The impaired prothrombinase activity in patients with delta-storage pool deficiency may be due to a failure to provide sufficient amounts of secreted adenine nucleotides which, when bound to P2 purinergic receptors, are necessary to maintain the intracellular Ca (2+) levels that are required for the surface expression of PS.
  • Platelet prothrombinase activity and thrombin potential in patients with Glanzmann thrombasthenia (GPIIb-IIIa deficiency) may be decreased, normal, or increased, depending on the experimental conditions, for reasons that are not currently clear.
  • The most consistent platelet PCA abnormality in the Bernard-Soulier syndrome (GPIb-complex deficiency) is an abnormally short serum prothrombin time, associated with a defect in the process by which an interaction between fibrin, von Willebrand factor, and GPIb promotes PCA.
  • [MeSH-major] Blood Coagulation Disorders / blood. Blood Platelets / pathology

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  • [ErratumIn] Semin Thromb Hemost. 2009 Jun;35(4):447
  • (PMID = 19408196.001).
  • [ISSN] 1098-9064
  • [Journal-full-title] Seminars in thrombosis and hemostasis
  • [ISO-abbreviation] Semin. Thromb. Hemost.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
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45. |......... 4%  Wei AH, Li W: Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis. Pigment Cell Melanoma Res; 2013 Mar;26(2):176-92
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Hermansky-Pudlak syndrome (HPS) is an autosomal recessive and genetically heterogeneous disorder characterized by oculocutaneous albinism, bleeding tendency, and ceroid deposition, which likely leads to deleterious lesions in lungs, heart, and other organs.
  • [MeSH-minor] Animals. Disease Models, Animal. Humans. Lysosomes / genetics. Signal Transduction / genetics

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  • [Copyright] © 2012 John Wiley & Sons A/S.
  • (PMID = 23171219.001).
  • [ISSN] 1755-148X
  • [Journal-full-title] Pigment cell & melanoma research
  • [ISO-abbreviation] Pigment Cell Melanoma Res
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] England
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46. |......... 4%  Sandrock K, Bartsch I, Rombach N, Schmidt K, Nakamura L, Hainmann I, Busse A, Zieger B: Compound heterozygous mutations in 2 siblings with Hermansky-Pudlak syndrome type 1 (HPS1). Klin Padiatr; 2010 May;222(3):168-74
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • BACKGROUND: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder causing oculocutaneous albinism, bleeding disorder and ceroid lipofuscinosis.
  • Platelets from HPS patients are characterized by the absence of dense (delta)-bodies.
  • Restrictive lung disease, granulomatous colitis and cardiomyopathy have been described in HPS1 patients.
  • METHODS/RESULTS: Patients' platelets showed severe pathological agglutination/aggregation.
  • Flow cytometry analysis demonstrated absence of platelet delta-granule secretion.
  • [MeSH-minor] Adult. Age of Onset. Alleles. Bleeding Time. Child. Child, Preschool. Chromosome Deletion. Codon, Nonsense / genetics. Exons. Female. Frameshift Mutation / genetics. Humans. Male. Pedigree. Phenotype. Platelet Function Tests. Sequence Analysis, DNA. Young Adult

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  • (PMID = 20514622.001).
  • [ISSN] 1439-3824
  • [Journal-full-title] Klinische Pädiatrie
  • [ISO-abbreviation] Klin Padiatr
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Codon, Nonsense
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47. |......... 4%  Sen T, Mullerpattan J, Agarwal D, Naphde D, Deshpande R, Mahashur AA: Hermansky-Pudlak syndrome. J Assoc Physicians India; 2009 Sep;57:660-2
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • We present a rare disease condition Hermansky-Pudlak syndrome in a 33-year-old male.
  • He was born of a consanguineous marriage, had occulo-cutaneous albinism, nystagmus, decreased visual acuity, refractory errors, pulmonary fibrosis and granulomatous inflammation of the colon.
  • In spite of all the classical features of this genetic disorder he was labeled to have disseminated tuberculous infection with a drug resistant strain for many years till the actual diagnosis was made on the basis of a strong clinical suspicion.

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  • (PMID = 20214008.001).
  • [ISSN] 0004-5772
  • [Journal-full-title] The Journal of the Association of Physicians of India
  • [ISO-abbreviation] J Assoc Physicians India
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] India
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48. |......... 4%  Cheli VT, Dell'Angelica EC: Early origin of genes encoding subunits of biogenesis of lysosome-related organelles complex-1, -2 and -3. Traffic; 2010 May;11(5):579-86
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Biogenesis of lysosome-related organelles complex (BLOC)-1, -2 and -3 are three multi-subunit protein complexes that are deficient in various forms of Hermansky-Pudlak syndrome, a human disease characterized by abnormal formation of lysosome-related organelles.

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  • (PMID = 20102546.001).
  • [ISSN] 1600-0854
  • [Journal-full-title] Traffic (Copenhagen, Denmark)
  • [ISO-abbreviation] Traffic
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Denmark
  • [Chemical-registry-number] 0 / Carrier Proteins; 0 / HPS4 protein, human; 0 / Proteins
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49. |......... 4%  Ciledağ A, Cirit Koçer B, Köktürk N, Kaya A, Celik G, Numanoğlu N: A rare cause of interstitial lung disease: Hermansky-Pudlak syndrome. Tuberk Toraks; 2011;59(1):85-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A rare cause of interstitial lung disease: Hermansky-Pudlak syndrome.
  • Hermansky-Pudlak syndrome is a rare disease characterized by bleeding diathesis, oculocutaneous albinism and lysosomal ceroid lipofuscin pigment deposits.
  • Pulmonary fibrosis may also accompany with the disease.
  • In conclusion; this report describes a patient with pulmonary fibrosis caused by lung involvement of Hermansky-Pudlak syndrome which is an extremely rare and mortal disease.


50. |......... 4%  Dell'Angelica EC: AP-3-dependent trafficking and disease: the first decade. Curr Opin Cell Biol; 2009 Aug;21(4):552-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] AP-3-dependent trafficking and disease: the first decade.
  • Ten years ago, genetic defects in AP-3 were linked to a human Mendelian disease, named Hermansky-Pudlak syndrome, characterized by abnormal biogenesis and function of lysosome-related organelles such as melanosomes and platelet dense granules.
  • These studies have brought into focus ideas about the specific roles of this pathway in protein trafficking and organelle biogenesis within the endosomal-lysosomal system.

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  • (PMID = 19497727.001).
  • [ISSN] 1879-0410
  • [Journal-full-title] Current opinion in cell biology
  • [ISO-abbreviation] Curr. Opin. Cell Biol.
  • [Language] eng
  • [Publication-type] Journal Article; Review
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Adaptor Protein Complex 3
  • [Number-of-references] 55
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