Results 41 to 50 of about 1,134,753 (94)

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
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The Zebrafish fade out mutant: a novel genetic model for Hermansky-Pudlak syndrome [PDF]

, 2006
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).
Neuhauss, S. C. F., Rao, P., Neuhauss, S C F; https://orcid.org/, Rao, P, Bahadori, R., Makhankov, Y. V., Rinner, O., Biehlmaier, O., Makhankov, Y V, Schonthaler, H B, Schonthaler, H. B., Jagadeeswaran, P, Jagadeeswaran, P., Rinner, O, Biehlmaier, O, Bahadori, R   +15 more
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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
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Hermansky-Pudlak Syndrome and Chediak-Higashi Syndrome: Disorders of Vesicle Formation and Trafficking

, 2001
SummaryThe rare autosomal recessive metabolic disorders Hermanky-Pudlak syndrome (HPS) and Chediak-Higashi syndrome (CHS) share the clinical findings of oculocutaneous albinism and a platelet storage pool deficiency.
Yair Anikster, William Gahl, Marjan Huizing   +2 more
core   +1 more source

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

, 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, Sullivan, Lisa M., Maguire, Jean Ann, Mills, Jason A., French, Deborah L., Lu, Lin, Jean Ann Maguire, Deborah L. French, Lisa M. Sullivan, Gadue, Paul, Paul Gadue   +11 more
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Hermansky‐Pudlak syndrome [PDF]

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

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
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Recent advance in Hermansky-Pudlak syndrome [PDF]

, 2007
Hermansky-Pudlak syndrome (HPS) is genetically heterogeneous, recessively inherited disease characterized by oculocutaneous albinism, hemorrhagic diathesis, pulmonary fibrosis and granulomatous colitis.
Oiso, Naoki
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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
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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
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