Results 41 to 50 of about 1,223,862 (192)
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
doaj +1 more source
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
doaj +1 more source
, 2018 Representative computed tomography scan images of the chest from one patient with Hermansky-Pudlak syndrome pulmonary fibrosis showing diffuse bilateral interstitial infiltrates at the time of referral for lung transplantation (A) and 6 years after ...
Ye Cui (2273386) +14 more
core +1 more source
, 2006 Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder which is characterised by the triad of oculocutaneous albinism, platelet dysfunction and accumulation of ceroidlike pigment in ...
TUNCER, Murat +5 more
core +2 more sources
Early Visual Development in Albinism
Clinical &Experimental Ophthalmology, EarlyView.ABSTRACT Background Visual system development is incomplete at birth, and while fixation and tracking usually emerge within the first weeks of life, some infants show delayed visual development (DVDev). This is frequently observed in infants with albinism, yet the timing of visual attentiveness and subsequent visual acuity development remains unclear ...
Catelijne Maria Neijzen +6 more
wiley +1 more source
Treatment of Hermansky-Pudlak syndrome Associated granulomatous colitis with anti-TNF agents: case series and review of literature [PDF]
, 2019 Hermansky-Pudlak syndrome is a rare syndrome characterized by bleeding diathesis due to platelet dysfunction, oculocutaneous albinism and other systemic involvements.
Coskun Ozer Demirtas +4 more
core +1 more source
, 2002 Hermansky-Pudlak syndrome is an autosomal recessive disease characterized by pigment dilution and prolonged bleeding time. At least 15 mutant mouse strains have been classified as models of Hermansky-Pudlak syndrome.
Nguyen, T +6 more
core +2 more sources
Testing for Non‐Severe Heritable Platelet Function Disorders
International Journal of Laboratory Hematology, Volume 48, Issue 6, Page 1279-1288, December 2026.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
wiley +1 more source
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2519-2524, November 2026.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
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
doaj +1 more source