Results 41 to 50 of about 7,578 (154)
Hermansky–Pudlak Syndrome Type 6 Accompanied with Bowel Vascular Malformation: Clinical Case
Вопросы современной педиатрии, 2021 Background. Hermansky–Pudlak syndrome type 6 is rare hereditary disease caused by pathogenic variants in base sequence, deletions, and insertions in the HPS6 gene encoding the transmembrane protein of the same name.
Natalia V. Zhurkova +9 more
doaj +1 more source
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 +4 more
doaj +1 more source
Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism
Frontiers in Genetics, 2021 BackgroundTyrosinase-positive oculocutaneous albinism (OCA, type II, OCA2) is an autosomal recessive genetic disease in which the biosynthesis of melanin decreases in the skin, hair, and eyes. OCA2 disease is caused by mutations in OCA2 gene.
Linya Ma +8 more
doaj +1 more source
Synergistic HMGN1 and VP64 Fusions Potentiate High‐Precision and PAM‐Flexible Base Editing
Advanced Science, Volume 13, Issue 50, 7 September 2026.A novel CDA1Δ‐SpRY architecture fused with HMGN1 and VP64 yields a nearly PAM‐less base editing platform. By focusing cytosine conversion predominantly at position −18, this synergistic complex ensures highly precise targeting. Demonstrating enhanced efficiency across diverse models, including yeast and rice, the platform offers a robust solution for ...
Xi Luo +11 more
wiley +1 more source
Quality of life in patients with oculocutaneous albinism [PDF]
Anais Brasileiros de Dermatologia, 2015 BACKGROUND:The social reality of the albino needs to be more studied in Brazil, as myths and social segregation regarding this illness are likely to be found in the country, with psychosocial and medical implications.OBJECTIVE:As this subject has not ...
Marcus Maia +3 more
doaj +1 more source
Advances in Skin Whitening Agents: Mechanisms, Clinical Applications, and Future Perspectives
Journal of Cosmetic Dermatology, Volume 25, Issue 9, September 2026.ABSTRACT Background Skin hyperpigmentation disorders are common cosmetic and clinical concerns caused by excessive melanin production, abnormal pigment distribution, or persistent pigment after inflammation. Their heterogeneous pathogenesis and tendency to recur complicate treatment, particularly in patients with darker phototypes.
Yuanyuan Chen +7 more
wiley +1 more source
A Recessive oca2 Mutation Underlies Albinism in Xiphophorus Fish
Pigment Cell &Melanoma Research, Volume 39, Issue 4, July 2026.Genetic mapping of albino Xiphophorus hellerii showed that albinism is associated with a recessive oca2 variant. This variant leads to early termination of the Oca2 protein. This study identifies a novel model system to investigate conserved mechanisms of pigmentation biology.
Yanting Xing +5 more
wiley +1 more source
Biomedical Papers, 2015 Background: Chromosomal duplications involving 17p13.3 have recently been defined as a new distinctive syndrome with several diagnosed patients. Some variation is known to occur in the breakpoints of the duplicated region and, consequently, in the ...
Marzena Kucharczyk +6 more
doaj +1 more source
Type I Oculocutaneous Albinism Associated with a Full-Length Deletion of the Tyrosinase Gene [PDF]
, 1996 Type I oculocutaneous albinism is an autosomal recessive disorder in which the biosynthesis of melanin is reduced or absent in skin, hair, and eyes because of deficient activity of tyrosinase (EC 1.14.18.1).
Holmes, Stuart A. +5 more
core +1 more source
Dermatoscopy of pigmented melanocytic nevi in patients with oculocutaneous albinism
, 2009 Oculocutaneous albinism is a group of rare inherited disorders of pigmentation. Some albinos may have a certain degree of melanin production and, consequently, may develop pigmented lesions during their lives.
ZALAUDEK, IRIS
core +2 more sources