Results 91 to 100 of about 1,137,601 (187)

Hermansky-pudlak syndrome: report of a case and review of the literature.

, 2008
Hermansky-Pudlak syndrome is a rare autosomal recessive disorder characterized by excessive bleeding post surgery. Here we reported such a case and reviewed the clinicopathological features and our current understanding of this rare congenital ...
Hurford, Matthew T, Sebastiano, Christopher, MD   +1 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  

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

The Zebrafish fade out Mutant: A Novel Genetic Model for Hermansky-Pudlak Syndrome [PDF]

, 2020
PURPOSE. To characterize retinal morphology and visual system function in the zebrafish mutant fade out (fad) and to establish the mutant as a lower vertebrate model for Hermansky-Pudlak syndrome (HPS). METHODS.
Oliver Rinner, Oliver Biehlmaier, Pudur Jagadeeswaran, Yuri V Makhankov, Ronja Bahadori, Stephan C F Neuhauss, Helia Berrit Schonthaler, Prashanth Rao   +7 more
core  

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  

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

Case Report Hermansky-Pudlak Syndrome: Report of a Case and Review of the Literature

, 2008
: Hermansky-Pudlak syndrome is a rare autosomal recessive disorder characterized by excessive bleeding post surgery. Here we reported such a case and reviewed the clinicopathological features and our current understanding of this rare congenital ...
Matthew T Hurford, Christopher Sebastiano   +1 more
core  

Rare genetic interstitial lung diseases: a pictorial essay

European Respiratory Review
The main monogenic causes of pulmonary fibrosis in adults are mutations in telomere-related genes. These mutations may be associated with extrapulmonary signs (hepatic, haematological and dermatological) and typically present radiologically as usual ...
Raphael Borie, Laureline Berteloot, Caroline Kannengiesser, Matthias Griese, Aurelie Cazes, Bruno Crestani, Alice Hadchouel, Marie Pierre Debray   +7 more
doaj   +1 more source

Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II

, 2015
Griscelli syndrome (GS) was diagnosed in a 2-year-old patient with oculocutaneous albinism and immunodeficiency, but sequencing of RAB27a revealed only a heterozygous mutation.
Enders, Anselm, Müller, Christoph, Speckmann, Carsten, Rohr, Jan, Zieger, Barbra, Schwarz, Klaus, Kontny, Udo, Yoshimi, Ayami, Knoepfle, Eva-Maria, Nurden, Alan   +9 more
core   +1 more source