Results 31 to 40 of about 4,797 (115)

Genetic Analysis of Oculocutaneous Albinism Type1A (OCA1A) in an Iranian Family [PDF]

Iranian Journal of Public Health, 2010
Background: Oculocutaneous albinism type1 (OCA1) is characterized by the absence of melanin pigmentation. The muta­tion on TYR gene makes OCA1 as an autosomal recessive genetic disorder.
H Pour-Jafari , A Zamanian , B Pour-Jafari   +2 more
doaj   +1 more source

Oculocutaneous albinism and autism: a case report and review of literature [PDF]

Düşünen Adam Psikiyatri ve Nörolojik Bilimler Dergisi, 2013
Autistic disorder is a highly heritable disorder characterized by impaired communication, social interaction, and repetitive behaviors. Several inherited medical and psychological disorders have been reported in association with childhood autism and many
selma tural hesapcioglu
doaj  

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, Nato D. Vashakmadze, Natella V. Suhanova, Grigorii V. Revunenekov, Olga B. Gordeeva, Maria V. Egorova, Dmitriy S. Ovchinnikov, Vitaliy V. Kadyshev, Rena A. Zhinchenko, Leyla S. Namazova-Baranova   +9 more
doaj   +1 more source

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   +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, Jianjian Zhu, Jing Wang, Yazhou Huang, Jibo Zhang, Chao Wang, Yuan Zhou, Dan Peng, Dan Peng   +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, Yuyao Qu, Zhengyan Ye, Zheng Li, Yuanyan Zhang, Longjiong Luo, Shaokang Li, Wei Zhao, Ming Wang, Ralph Bock, Jianmin Wan, Junjie Tan   +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, Beatrice Mussio Fornazier Volpini, Gabriela Alves dos Santos, Maria Josefa Penon Rujula   +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, Enhui Wang, Yize Li, Yanfang Yang, Zhaofeng Zhang, Junbo Wang, Yanfei Jiang, Chunyue Zhao   +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, William Boswell, Jessica Parker, Kang Du, Manfred Schartl, Yuan Lu   +5 more
wiley   +1 more source

Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication

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, Aleksandra Jezela-Stanek, Dorota Gieruszczak-Bialek, Monika Kugaudo, Agata Cieslikowska, Magdalena Pelc, Malgorzata Krajewska-Walasek   +6 more
doaj   +1 more source