Results 61 to 70 of about 1,233,281 (160)
MedComm, Volume 6, Issue 10, October 2025.This review comprehensively examines the regulatory mechanisms and physiological roles of guanine nucleotide exchange factors (GEFs) and their small GTPase substrates, highlighting their significance in cellular processes and disease pathogenesis.
Zexing Lin +15 more
wiley +1 more source
Biology of the Cell, Volume 117, Issue 10, October 2025.The morphodynamical plasticity of the endolysosomal system supports the formation and function of specialized intracellular compartments, as exemplified by the pigment organelles in skin cells. In epidermal melanocytes and keratinocytes, membrane trafficking and remodeling coordinate tissue pigmentation and protect the genome from photodamage ...
Laura Salavessa +4 more
wiley +1 more source
Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis
, 2018 Purpose: Limited information is available regarding chronic treatment with pirfenidone, an anti-fibrotic drug. Effects of long-term open-label pirfenidone were evaluated in a small cohort with Hermansky-Pudlak syndrome (HPS), a rare autosomal recessive ...
Seward, Samuel L. +9 more
core +1 more source
Case Report : Hermansky Pudlak Syndrome (Presenting as late onset heavy Menstrual Bleeding) [PDF]
Journal of Clinical and Diagnostic Research, 2013 Inherited bleeding disorders contribute significantly to the incidence and prevalence of Heavy Menstrual Bleeding (HMB), and contrary to popular belief can present any time during the reproductive years of a woman’s life.
Amita Ray, Sujoy Ray, Jose John Matthew
doaj +1 more source
A Practical Guide to Genetic Eye Conditions for Paediatricians
Journal of Paediatrics and Child Health, Volume 61, Issue 10, Page 1538-1548, October 2025.ABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Richard Lin +5 more
wiley +1 more source
Adaptor protein complexes and intracellular transport
Bioscience Reports, 2014 The AP (adaptor protein) complexes are heterotetrameric protein complexes that mediate intracellular membrane trafficking along endocytic and secretory transport pathways. There are five different AP complexes: AP-1, AP-2 and AP-3 are clathrin-associated
Sang Yoon Park, Xiaoli Guo
doaj +1 more source
Genetic Diagnosis of Oculocutaneous Albinism Type 1A: A Novel TYR Variant
Clinical Case Reports, Volume 13, Issue 9, September 2025.ABSTRACT Oculocutaneous albinism type IA (OCA1A) is a rare autosomal recessive disorder caused by variants in the TYR gene, resulting in complete loss of tyrosinase activity and absence of melanin production. In this study, we report a novel missense variant, TYR (NM_000372.5):c.143A>C (p.Gln48Pro), found within exon 1 and mapped to chr11: g.89178096A ...
Raghad N. Shihab +5 more
wiley +1 more source
, 2018 Representative whole-mount electron micrographs of platelets from a patient with Hermansky-Pudlak syndrome (A) and normal platelets (B) are shown (bar = 1 micrometer). Normal platelets contain delta granules (arrows), and platelets from patients with HPS
Ye Cui (2273386) +14 more
core +1 more source
Retinal biomarkers and pharmacological targets for Hermansky-Pudlak syndrome 7 [PDF]
, 2020 Deletion of dystrobrevin binding protein 1 has been linked to Hermansky-Pudlak syndrome type 7 (HPS-7), a rare disease characterized by oculocutaneous albinism and retinal dysfunction.
Giunta S. +15 more
core +1 more source
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 +1 more
core +1 more source