Results 91 to 100 of about 1,223,862 (192)

The WASH complex, an endosomal Arp2/3 activator, interacts with the Hermansky-Pudlak syndrome complex BLOC-1 and its cargo phosphatidylinositol-4-kinase type IIα.

, 2018
Vesicle biogenesis machinery components such as coat proteins can interact with the actin cytoskeleton for cargo sorting into multiple pathways. It is unknown, however, whether these interactions are a general requirement for the diverse endosome traffic
Rachel Vistein (5067782), A Gokhale (5068301), Manojkumar Puthenveedu (3889813), M. N. Seaman (5068307), P V Ryder (5068298), V. Faundez (5068304)   +5 more
core   +1 more source

Expression of cellular prion protein on platelets from patients with gray platelet or Hermansky-Pudlak syndrome and the protein's association with alpha-granules

Haematologica, 2006
The cellular prion protein (PrPc) is a membrane glycoprotein expressed on many human cells including platelets. We investigated the cellular localization of platelet PrPc. In resting platelets most PrPc was localized inside the cells.
K Holada, H Glierova, J Simak, JG Vostal
doaj  

Molecular genetic analysis of the DNA of patients with Morbus Glanzmann, Hermansky Pudlak Syndrome and Bernard Soulier Syndrome

, 2009
Die Erkrankungen Morbus Glanzmann, Hermansky Pudlak Syndrom und Bernard Soulier Syndrom sind seltene, autosomal rezessiv vererbte Blutungsstörungen. In dieser Arbeit wurde die DNA von Patienten mit Morbus Glanzmann und Hermansky Pudlak Syndrom mittels ...
Schubart, Christina
core  

Pearls of Wisdom for Pulmonary Fibrosis

, 2011
Chronic inflammation mediated by alveolar epithelial cells through macrophages may contribute to the development of lung fibrosis in Hermansky Pudlak syndrome patients.
Anthony K. Shum
core   +1 more source

Role of the PAR4 Thrombin Receptor in Stabilizing Platelet-platelet Aggregates as Revealed by a Patient with Hermansky-Pudlak Syndrome

, 2002
SummaryIndividuals with Hermansky-Pudlak Syndrome (HPS) lack platelet dense granules and have no ADP-autocrine response. Despite these platelet deficiencies, HPS patients exhibit a surprisingly mild bleeding phenotype.
Christopher Singh, Athan Kuliopulos, Lidija Covic, Hedy Smith   +3 more
core   +1 more source

Mutation analysis of HPS1, the gene mutated in Hermansky-Pudlak syndrome, in patients with isolated platelet dense-granule deficiency

Haematologica, 2004
BACKGROUND AND OBJECTIVES: Isolated platelet dense granule (PDG) deficiency is a heterogeneous disorder frequently found among patients with mild to moderate bleeding diatheses. However, the molecular basis of this disorder is unknown.
J Corral, R Gonzalez-Conejero, N Pujol-Moix, P Domenech, V Vicente   +4 more
doaj  

Hermansky-Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis

, 2004
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and a platelet storage pool deficiency. Some patients also develop fatal pulmonary fibrosis and some have granulomatous colitis.
Elisabeth Eppler, Thomas Brack, Eppler, E, Thomas Stallmach, Marjan Huizing, William A. Gahl, Bachli, E B, Trüeb, R M, Ralph M. Trüeb, Brack, T, Huizing, M, Gahl, W A, Esther B. Bachli, Stallmach, T, Brack T, Bachli EB, Gahl WA, Trüeb RM, Stallmach T, Huizing M, Eppler E   +20 more
core   +1 more source

Case Report: Hermansky-Pudlak syndrome type 1 in the Russian Federation presenting with genotype-phenotype discordance

Frontiers in Pediatrics
BackgroundHermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder caused by defects in the biogenesis of lysosome-related organelles (LROs) across multiple tissues. This condition typically presents with a triad of oculocutaneous albinism,
L. G. Khachatryan, N. V. Chincharauli, G. S. Golosnaya, K. A. Kazakova, N. S. Trifonova, V. A. Kaptilnyy, M. V. Poznyak, R. A. Zinchenko, A. S. Kulagin, S. A. Ionova, E. V. Zhukova, E. V. Minashkina, O. S. Lukyanchuk, R. A. Chilova   +13 more
doaj   +1 more source

Abstract

JPGN Reports, Volume 6, Issue S2, Page S1-S814, September 2025.
wiley   +1 more source

Hermansky-Pudlak syndrome 2 — a novel mutation with factor VII deficiency: a fluke from India

Journal of Rare Diseases
Objective Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and bleeding diathesis with other variable phenotypic features found in some of its subtypes, such as pulmonary fibrosis, colitis ...
Vibha Gupta, Rutvi Gautam Dave, Tulasi Geever, Sukesh C. Nair, Joy Mammen, N. A. Fouzia   +5 more
doaj   +1 more source