Results 31 to 40 of about 1,230,655 (143)

Hermansky-Pudlak syndrome

Journal of Osteopathic Medicine, 2022
Austin B. Ambur, Timothy A. Nyckowski
openaire   +2 more sources

In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer.

, 2015
Hermansky-Pudlak syndrome (HPS) is a genetic disorder characterized by oculocutaneous albinism, bleeding tendency and susceptibility to pulmonary fibrosis. No curative therapy is available.
Gochuico, B.R., Cullinane, A.R., Candotti, F., Dorward, H., Ikawa, Y., Hess, R., Huizing, M., Gahl, W.A.   +7 more
core   +1 more source

Hermansky-Pudlak Syndrome: An unusual pattern of pulmonary fibrosis

Hermansky-Pudlak Syndrome is a rare genetic cause of pulmonary fibrosis, associated with albinism, nystagmus, and a bleeding diathesis. Histologically, Hermansky-Pudlak Syndrome Pulmonary Fibrosis (HPS-PF) typically resembles usual interstitial pneumonia
Ian Glaspole, Samantha Ellis, Matthew Donnan   +2 more
core   +1 more source

Generation of Hermansky–Pudlak Syndrome Type 1 (HPS1) induced pluripotent stem cells (iPSCs)

, 2016
Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by deficiencies in lysosome-related organelles such as melanosomes and platelet-dense granules. The disorder is classified into nine different subtypes (HPS1–HPS9) based
Jason A. Mills, Alyssa Gagne, Deborah L. French, Lin Lu, Jean Ann Maguire, Lisa M. Sullivan, Paul Gadue   +6 more
core   +1 more source

Defective AP-3-dependent VAMP8 trafficking impairs Weibel-Palade body exocytosis in Hermansky-Pudlak Syndrome type 2 blood outgrowth endothelial cells [PDF]

, 2019
Weibel-Palade bodies are endothelial secretory organelles that contain von Willebrand factor, P-selectin and CD63. Release of von Willebrand factor from Weibel-Palade bodies is crucial for platelet adhesion during primary hemostasis.
Schillemans, M, van den Biggelaar, M, Jan Voorberg, Menno Hofman, Kuijpers, TWJ, Taco W. Kuijpers, Karampini, E, Ruben Bierings, Floris van Alphen, Maartje van den Biggelaar, Voorberg, J, Alphen, F, Bierings, Ruben; id_orcid, Boer, ML, Hofman, M, Martin de Boer, Maaike Schillemans, Ellie Karampini   +17 more
core   +1 more source

Hermansky‐Pudlak syndrome [PDF]

British Journal of Haematology, 2007
Mark, Walker, Jeanette, Payne, Bart, Wagner, Ajay, Vora   +3 more
openaire   +2 more sources

New Deletions in the Hermansky-Pudlak Syndrome Type 5 Gene in a Japanese Patient

, 2019
The Hermansky-Pudlak syndrome (HPS) is a rare disease characterized by oculocutaneous albinism and prolonged bleeding. HPS is caused by alterations in HPS1-10 and their related genes, comprising the biogenesis of lysosome-related organelles complex 1 ...
Akie Hamamoto, Shinya Kato, Toshiya Nishikubo, Hiroshi Takemori, Tsugumi Aoe   +4 more
core   +1 more source

Generation of Hermansky Pudlak syndrome type 2 (HPS2) induced pluripotent stem cells (iPSCs)

, 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.
Jason A. Mills, Lin Lu, Jean Ann Maguire, Deborah L. French, Lisa M. Sullivan, Paul Gadue   +5 more
core   +1 more source

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

Hermansky-Pudlak Syndrome with a Novel Mutation

Internal Medicine, 2005
We report a case of Hermansky-Pudlak syndrome (HPS) with a novel mutation in the HPS1 gene. This case showed oculocutaneous albinism and lysosomal ceroid accumulation, however platelet dysfunction was not observed. Histopathological findings of the biopsied lung tissue were compatible with HPS. Sequencing analysis showed the insertion of C in the codon
IWAKAWA, Jun, MATSUYAMA, Wataru, WATANABE, Masaki, YAMAMOTO, Masuki, OONAKAHARA, Ken-ichi, MACHIDA, Kentarou, HIGASHIMOTO, Ikkou, NIIYAMA, Takahito, OSAME, Mitsuhiro, ARIMURA, Kimiyoshi   +9 more
openaire   +3 more sources