Results 41 to 50 of about 4,782 (148)

Development of the Swimbladder Surfactant System and Biogenesis of Lysosome-Related Organelles Is Regulated by BLOS1 in Zebrafish [PDF]

, 2018
Hermansky-Pudlak syndrome (HPS) is a human autosomal recessive disorder that is characterized by oculocutaneous albinism and a deficiency of the platelet storage pool resulting from defective biogenesis of lysosome-related organelles (LROs).
Chen, Tianbing, Cui, Zongbin, Huang, Kaiyao, Mao, Lin, Song, Guili, Yang, Huihui   +5 more
core   +1 more source

Hermansky Pudlak Syndrome Type 2:A Rare Case Report [PDF]

Journal of Krishna Institute of Medical Sciences University, 2020
Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive disorder characterized by Oculocutaneous Albinism (OCA), platelet disorder, and ceroid accumulation. It is common in North West Puerto Rico region, and the incidence reported is 1/500000.
Yogesh Chhaparwal , Mathangi Kumar, Shubha Chhaparwal   +2 more
doaj  

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   +1 more source

Yeast Homologues of Three BLOC-1 Subunits Highlight KxDL Proteins As Conserved Interactors of BLOC-1. [PDF]

, 2010
Biogenesis of lysosome-related organelle complex-1 (BLOC-1) is one of the four multi-subunit complexes implicated in sorting cargo to lysosome-related organelles, as loss of function of any of these complexes causes Hermansky-Pudlak syndrome.
Bryon, K, Hayes, MJ, Levine, TP, Satkurunathan, J   +3 more
core   +1 more source

A Case Report of Hermansky-Pudlak Syndrome

Armaghane Danesh Bimonthly Journal, 2021
Background & aim: Hermansky-Podlock Syndrome (HPS) is a rare autosomal recessive disease caused by major defects in protein trafficking. HPS is characterized by ocular cutaneous albinism, the absence of dense platelet granules, and the resulting bleeding
KH Khashei Varnamkhasti, M Alipour
doaj  

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders [PDF]

, 2014
BACKGROUND: With over 50 different disorders and a combined incidence of up to 1/3000 births, lysosomal storage diseases (LSDs) constitute a major public health problem and place an enormous burden on affected individuals and their families.
Armstrong, J., Castiñeiras, D., Castro-Gago, M., Cocho, J., Couce, M., Eiris, J., Fernández-Marmiesse, A., Fraga, J., Gouveia, S., Lacerda, L., Morey, M., Pineda, M., Pérez-Poyato, M.   +12 more
core   +2 more sources

Vitiligo

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 23, Issue 8, Page 968-987, August 2025.
Summary Vitiligo is a common pigment disorder of the skin resulting in destruction of melanocytes. Non‐segmental vitiligo (NSV) is an autoimmune disorder. The etiopathogenesis of segmental vitiligo (SV) remains incompletely understood. Genetic predisposition and increased vulnerability of melanocytes towards stressors lead to a melanocyte‐specific CD8+
Markus Böhm, Adrian Tanew
wiley   +2 more sources

Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study [PDF]

, 2014
BACKGROUND: The diagnostic evaluation of inherited platelet disorders (IPDs) is complicated and time-consuming, resulting in a relevant number of undiagnosed and incorrectly classified patients.
Antón, AI, Cid, AR, González-Manchón, C, Lopez-Fernandez, MF, Lozano, Ml, Lozano, ML, Lucia, JF, Padilla, J, Rivera, J, Sevivas, T, Sánchez-Guiu, I, Velasco, F, Vicente, V   +12 more
core   +1 more source

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review

Acta Paediatrica, EarlyView.
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol, Mariam Sbeity Barakat, Marjolaine Willems, Tasnime Akbaraly, Biron‐Andreani Christine, Isabelle Diaz, Alexandre Theron   +6 more
wiley   +1 more source

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

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   +1 more source