Results 41 to 50 of about 1,137,601 (187)
Hermansky Pudlak Syndrome Associated Pulmonary Fibrosis
Online Journal of Health & Allied Sciences, 2022 Hermansky-Pudlak syndrome (HPS) was first described by Dr. Frantisek Hermansky and Dr. Paulus Pudlak in 1959. HPS is relatively common in Puerto Rico, in the north-western region of the island.
Navakumar Manickam +3 more
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Hermansky–Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease
European Respiratory Review, 2021 Pulmonary fibrosis is a progressive interstitial lung disease of unknown aetiology with a poor prognosis. Studying genetic diseases associated with pulmonary fibrosis provides insights into the pathogenesis of the disease. Hermansky–Pudlak syndrome (HPS),
Tadafumi Yokoyama +1 more
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Hermansky Pudlak Syndrome Type 2:A Rare Case Report [PDF]
Journal of Krishna Institute of Medical Sciences University, 2020 Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive disorder characterized by Oculocutaneous Albinism (OCA), platelet disorder, and ceroid accumulation. It is common in North West Puerto Rico region, and the incidence reported is 1/500000.
Yogesh Chhaparwal +2 more
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A Role of Phosphatidylserine in the Function of Recycling Endosomes
Frontiers in Cell and Developmental Biology, 2021 Cells internalize proteins and lipids in the plasma membrane (PM) and solutes in the extracellular space by endocytosis. The removal of PM by endocytosis is constantly balanced by the replenishment of proteins and lipids to PM through recycling pathway ...
Junya Hasegawa +5 more
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A Case Report of Hermansky-Pudlak Syndrome
Armaghane Danesh Bimonthly Journal, 2021 Background & aim: Hermansky-Podlock Syndrome (HPS) is a rare autosomal recessive disease caused by major defects in protein trafficking. HPS is characterized by ocular cutaneous albinism, the absence of dense platelet granules, and the resulting bleeding
KH Khashei Varnamkhasti, M Alipour
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Hermansky-Pudlak Syndrome and Lung Disease: Pathogenesis and Therapeutics
Frontiers in Pharmacology, 2021 Hermansky-Pudlak Syndrome (HPS) is a rare, genetic, multisystem disorder characterized by oculocutaneous albinism (OCA), bleeding diathesis, immunodeficiency, granulomatous colitis, and pulmonary fibrosis.
Pamela Velázquez-Díaz +6 more
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Generation of Hermansky Pudlak syndrome type 2 (HPS2) induced pluripotent stem cells (iPSCs)
Stem Cell Research, 2016 Hermansky–Pudlak syndrome type 2 (HPS2) is a rare autosomal recessive disorder resulting from functional mutations in the adaptor-related protein complex 3, beta 1 subunit (AP3B1) gene.
Jean Ann Maguire +5 more
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Testing for Non‐Severe Heritable Platelet Function Disorders
International Journal of Laboratory Hematology, EarlyView.ABSTRACT Heritable platelet function disorders (HPFD) are a diverse group of bleeding disorders characterised by a primary qualitative defect in platelet function rather than platelet number. HPFD may be broadly categorised according to the severity of bleeding, with Glanzmann thrombasthenia and Bernard Soulier syndrome classically considered severe ...
Kate Burley +3 more
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Spectrum of Primary Hemophagocytic Lymphohistiocytosis‐Associated Gene Mutations in Chinese Patients
MedComm, Volume 7, Issue 9, September 2026.The locations and types of variants in the most frequently affected genes. ABSTRACT Hemophagocytic lymphohistiocytosis (HLH) is a life‐threatening disease characterized by hyperinflammation. Primary HLH (primary HLH), resulting from genetic mutations, is a subtype of HLH.
Wenshuai Zheng +5 more
wiley +1 more source
The Melanin Pigmentary Disorder in a Family with Hermansky-Pudlak Syndrome [PDF]
, 1982 The albinotic skin and hair of 2 patients with Hermansky-Pudlak syndrome were investigated by light and electron microscopy. Incubation of hairbulbs and epidermis in l-dopa revealed a weak tyrosinase activity.
Lattion, Francis, Frenk, Edgar
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