Results 31 to 40 of about 1,223,862 (192)
Clinical and genetic aspects of albinism [PDF]
Клиническая офтальмология, 2021 V.V. Kadyshev, S.A. Ryazhskaya, O.V. Khalanskaya, N.V. Zhurkova, R.A. Zinchenko Research Center for Medical Genetics, Moscow, Russian Federation Albinism is a clinically and genetically heterogeneous group of hereditary ...
V.V. Kadyshev +4 more
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Modeling of Fibrotic Lung Disease Using 3D Organoids Derived from Human Pluripotent Stem Cells
Cell Reports, 2019 Summary: The pathogenesis of idiopathic pulmonary fibrosis (IPF), an intractable interstitial lung disease, is unclear. Recessive mutations in some genes implicated in Hermansky-Pudlak syndrome (HPS) cause HPS-associated interstitial pneumonia (HPSIP), a
Alexandros Strikoudis +7 more
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Respirology Case Reports, 2021 The Hermansky–Pudlak syndrome (HPS) is a rare genetic disorder. We report three cases from a family of 12 siblings, with six albinos, of whom four and the father had pulmonary fibrosis (PF).
Katiuska Liendo Martinez +5 more
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Stem Cell Research, 2021 Induced pluripotent stem cells (iPSCs) were generated from blood outgrowth endothelial cells (BOECs) obtained from a healthy donor and from a patient diagnosed with Hermansky Pudlak Syndrome type 2 (HPS2), caused by compound heterozygous AP3B1 mutations (
Cathelijn E.M. Aarts +10 more
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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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Human Pathology: Case Reports, 2021 Hermansky-Pudlak syndrome (HPS) is an autosomal recessive genetic disorder in which the proper function of lysosome-related organelles (LROS) is impaired due to mutation in one of several well-characterized genes, including, but not limited to: HPS1 ...
Lanny T. DiFranza +3 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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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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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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