Results 11 to 20 of about 1,233,281 (160)

Hermansky-Pudlak syndrome

Muller Journal of Medical Sciences and Research, 2014
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis and lysosomal deposition of ceroid lipofuscin pigment.
Prabodh Panchadhyayee, Arnab Saha, Kaushik Saha, Rupam Kumar Ta, Pratik Barma   +4 more
doaj   +2 more sources

Hermansky-Pudlak syndrome; a Case Report

Journal of Ophthalmic & Vision Research, 2010
Purpose: To report a case of Hermansky-Pudlak syndrome. Case Report: A seven-year-old boy presented with marked generalized hypopigmentation, ocular exodeviation and nystagmus. He had history of easy bruising.
Abbas Bagheri, Asieh Abdollahi
doaj   +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]

Haematologica, 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.
Ellie Karampini, Maaike Schillemans, Menno Hofman, Floris van Alphen, Martin de Boer, Taco W. Kuijpers, Maartje van den Biggelaar, Jan Voorberg, Ruben Bierings   +8 more
doaj   +2 more sources

Recurrent perianal abscess in a patient with Hermansky-Pudlak syndrome–associated granulomatous colitis: a case report [PDF]

Annals of Coloproctology, 2021
Hermansky-Pudlak syndrome (HPS) is a rare genetic disease consisting of the triad of oculocutaneous albinism, bleeding diathesis, and pigmented reticuloendothelial cells.
Ahmet Omak, Tevfik Kıvılcım Uprak, Wafi Attaallah   +2 more
doaj   +3 more sources

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

Reports, 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 ...
Shinya Kato, Tsugumi Aoe, Akie Hamamoto, Hiroshi Takemori, Toshiya Nishikubo   +4 more
doaj   +2 more sources

Hypertension, Chronic Kidney Disease, and Renal Pathology in a Child with Hermansky-Pudlak Syndrome [PDF]

International Journal of Nephrology, 2011
We report a child with Hermansky-Pudlak Syndrome (HPS) and chronic kidney disease (stage II) with histological diagnosis of focal segmental glomerulosclerosis (FSGS).
Roberto Gordillo, Marcela Del Rio, David B. Thomas, Joseph T. Flynn, Robert P. Woroniecki   +4 more
doaj   +2 more sources

Genetic variants associated with Hermansky-Pudlak syndrome

Platelets, 2020
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by defective biogenesis of lysosome-related organelles. Clinical manifestations include a bleeding diathesis due to a platelet delta storage pool deficiency ...
Melissa A. Merideth, Wendy J. Introne, Jennifer A. Wang, Kevin J. O’Brien, Marjan Huizing, Bernadette R. Gochuico   +5 more
doaj   +2 more sources

Long-read sequencing reveals SVA insertion in AP3B1 causing Hermansky-Pudlak syndrome 2. [PDF]

Pediatr Allergy Immunol
Pediatric Allergy and Immunology, Volume 37, Issue 7, July 2026.
Baba N, Baba N, Elashy A, Wegehaupt O, Zieger B, Felek M, Ferro M, Gilmour K, Fischer U, Borkhardt A, Ehl S, Koppstein D, Ghosh S.   +12 more
europepmc   +2 more sources

Hermansky-Pudlak Syndrome: From Molecular Pathogenesis to Targeted Therapies. [PDF]

IUBMB Life
: Hermansky-Pudlak syndrome (HPS) is a rare inherited disorder caused by defects in lysosome-related organelles (LROs) in various tissues, including platelets, melanocytes, and endothelial cells.
Tondi F, Cirsmaru RA, Conti C, Follenzi A, Gresele P, Olgasi C, Bury L.   +6 more
europepmc   +2 more sources

Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome. [PDF]

Int J Mol Sci
Hermansky–Pudlak syndrome (HPS) is a rare disease inherited in the autosomal recessive mode, including 11 clinical genetic subtypes. They are associated with impaired function of the BLOC protein complex (Biogenesis of Lysosome-related Organelles ...
Bobreshova AM, Ionova SA, Kadyshev VV, Sukhanova NV, Viakhireva IV, Filatova AY, Zhurkova NV, Sparber PA, Marakhonov AV, Vasilyeva TA, Shchagina OA, Kutsev SI, Zinchenko RA.   +12 more
europepmc   +2 more sources