Results 21 to 30 of about 1,137,601 (187)

Age-related neutrophil activation in Hermansky-Pudlak Syndrome Type-1 [PDF]

Orphanet Journal of Rare Diseases
Hermansky-Pudlak Syndrome (HPS) type 1 (HPS-1) is an autosomal recessive disorder characterized by oculocutaneous albinism, platelet dysfunction, and pulmonary fibrosis (HPS-PF), the leading cause of mortality in these patients.
Lourdes Marinna Caro-Rivera, Sonya Malavez-Cajigas, Mercedes Lacourt-Ventura, Andrea P. Rivera-Torres, Dorca E. Marcano-Jiménez, Pablo López-Colon, José Muñiz-Hernández, Enid Rivera-Jiménez, Mónica Egozcue-Dionisi, Rosa Román-Carlo, Wilfredo De Jesús-Rojas, Marcos J. Ramos-Benítez   +11 more
doaj   +2 more sources

Dermatologic manifestations in patients with the Hermansky–Pudlak syndrome types 1 and 3 [PDF]

Orphanet Journal of Rare Diseases, 2022
Background The Hermansky–Pudlak syndrome (HPS) is a genetically heterogeneous group of diseases characterized by oculocutaneous albinism, bleeding diathesis, and systemic complications. It is the most common genetic disorder in Puerto Rico.
Gabriel Santos Malave, Natalio J. Izquierdo, Nestor P. Sanchez   +2 more
doaj   +2 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

A novel deletion in the BLOC1S6 Gene Associated with Hermansky-Pudlak syndrome type 9 (HPS-9) [PDF]

BMC Genomics
Background Hermansky-Pudlak Syndrome (HPS), a rare autosomal recessive disorder, is characterized by oculocutaneous albinism, bleeding diathesis, and sometimes severe lung problems and inflammatory bowel disease.
Seyyed Mohammad Kahani, Ali Rabbizadeh Saray, Mir Salar Kahaei, Ali Dehghani, Pouria Mohammadi, Masoud Garshasbi   +5 more
doaj   +2 more sources

After an initial Hermansky–Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report [PDF]

Molecular Genetics & Genomic Medicine
Background Albinism is a heterogeneous condition in which patients present complete absence, reduction, or normal pigmentation in skin, hair and eyes in addition to ocular defects.
Joseline Serrano‐González, Ingrid Montes‐Rodríguez, Jessicca Y. Renta, Ricardo Rojas, Carmen L. Cadilla   +4 more
doaj   +2 more sources

Case report: Inflammatory bowel disease in Hermansky-Pudlak syndrome type 3 due to novel variant in HPS3 [PDF]

Frontiers in Genetics
BackgroundHermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder with phenotypic and genetic heterogeneity, characterized by oculocutaneous albinism, bleeding diathesis, and other specific subtypes such as colitis.
Jingqun Mai, Jingqun Mai, Zhu Zhang, Zhu Zhang, Bocheng Xu, Bocheng Xu, Shanling Liu, Shanling Liu, He Wang, He Wang, Hao Wang, Hao Wang, Shuo Yang, Shuo Yang   +13 more
doaj   +2 more sources

Amelanotic melanoma in a patient with Hermansky-Pudlak syndrome [PDF]

JAAD Case Reports, 2022
Ryan Fan, BA, Margaret S. Johnston, MD, Michael F. Gowen, MD, William Damsky, MD, PhD, Ian Odell, MD, PhD, James Clune, MD, Matthew D. Vesely, MD, PhD   +6 more
doaj   +2 more sources

Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development. [PDF]

, 2002
Hermansky-Pudlak syndrome is an autosomal recessive disease characterized by pigment dilution and prolonged bleeding time. At least 15 mutant mouse strains have been classified as models of Hermansky-Pudlak syndrome.
Nguyen, T, Peters, L L, Fluhr, J, Kermani, M, Novak, E K, Swank, R T, Wei, M L   +6 more
core   +2 more sources

Technical Note: The Use of RNA-interference as a Tool to Find Proteins Involved in Melanosome Formation or Transport [PDF]

, 2009
Melanosomes are lysosome-related organelles that produce and transport the pigment melanin within melanocytes. Mutations in proteins required for melanosome transport and formation lead to a range of pigmentation defects, manifested at the cellular level
Daniela Rotin, Eva M. Amsen
core   +1 more source

Novel Hermansky–Pudlak Syndrome Type I Variant in Hermansky–Pudlak Syndrome [PDF]

Indian Journal of Respiratory Care
Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism (OCA), a bleeding tendency due to platelet dysfunction, and organ pigment accumulation (ceroid lipofuscin in tissues).
Sandesh S, Sanjay S, Harsha H
doaj   +1 more source