Results 1 to 10 of about 5,435 (152)

Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous Albinism. [PDF]

Pigment Cell Melanoma Res
This study defines multi‐allele haplotypes, comprised of rare disease variants combined with common eQTL, sQTL and GWAS variants, for oculocutaneous albinism type 2 (OCA2). These haplotypes have implications for variant pathogenicity assessments and phenotypic variability.
Gillis MF, Ames MR, Lundh L, Gotea V, Elnitski L, Donovan F, NISC Comparative Sequencing Program, Adeyemo A, Rotimi C, Brooks B, Zein W, Gahl W, Oetting WS, Adams DR, Loftus SK.   +14 more
europepmc   +2 more sources

Sentinel Nystagmus: The Key to Identifying Type II Oculocutaneous Albinism (OCA2) in the Pediatric Setting. [PDF]

Case Rep Pediatr
Purpose To present a case of type II oculocutaneous albinism (OCA2) diagnosed in infancy following the finding of nystagmus, and to review the diagnostic process and the management of this disorder. Observation A 4‐month‐old female presented with subtle, roving eyes that were initially attributed to normal development.
Niknam J, Petrosyan A, Agustin V, Shoubaki A.   +3 more
europepmc   +2 more sources

Rare Germline Variants in CDKN2A-Negative Children and Adolescents With Cutaneous Melanoma. [PDF]

Pigment Cell Melanoma Res
Individuals with childhood and adolescent melanoma carry inherited mutations in shelterin complex genes, pigmentation genes and MBD4, but have fewer MC1R R‐alleles than adults with melanoma. Created with BioRender.com. ABSTRACT Cutaneous melanoma is a complex disease influenced by both environmental and genetic factors. Inherited susceptibility plays a
Johansson PA, Palmer JM, Bui-Raborn LT, Xu M, Jones KM, Higson H, Liu J, Brooks KM, Pritchard AL, Hayward NK, Brown KM.   +10 more
europepmc   +2 more sources

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations. [PDF]

J Dermatol
ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Okamura K, Suzuki T.
europepmc   +2 more sources

Genetic Diagnosis of Oculocutaneous Albinism Type 1A: A Novel <i>TYR</i> Variant. [PDF]

Clin Case Rep
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 ...
Shihab RN, Hamid RT, Neissi M, Mohammadi-Asl J, Sheikh-Hosseini M, Nekouei E.   +5 more
europepmc   +2 more sources

Genotypic and phenotypic analysis of an oculocutaneous albinism patient: a case report and review of the literature [PDF]

Journal of Medical Case Reports
Background Oculocutaneous albinism is a rare autosomal recessive disorder caused by congenital melanin deficiency, resulting in hypopigmentation of the eyes, hair, and skin.
Qian Ma, Weiwei Wang
doaj   +2 more sources

Retinal Pigment Epithelium-Targeting Gene Therapy Corrects Ocular Symptoms in Mouse and Rat Models of Oculocutaneous Albinism Type I. [PDF]

MedComm (2020)
RPE‐targeted gene therapy restored melanin expression and relieved ocular dysfunction. By optimizing the injection method, a wider range of melanin expression and better therapeutic effects have been achieved. ABSTRACT Oculocutaneous albinism (OCA) represents a genetically heterogeneous autosomal recessive condition marked by reduced melanin production
Song L, Ren C, Luo M, Su J, Jin X, Fu J, Xu Q, Wu X, Liu F, Ye Q, Hu M, Liu M, Li Q, An Y, Li M, Wang Q, She K, Lu F, Yang Y.   +18 more
europepmc   +2 more sources

Case Report: Genetic analysis of oculocutaneous albinism type 2 caused by a new mutation in the OCA2 [PDF]

Frontiers in Pediatrics
Oculocutaneous albinism (OCA) is a condition inherited in an autosomal recessive manner, leading to reduced pigmentation in the skin, hair, and eyes. Oculocutaneous albinism type 2 (OCA2) is one of the most common forms of OCA, caused by OCA2 mutations ...
Lei Luo, Min Ma, Yanzhang Yang, Hui Zhao
doaj   +2 more sources

A recessive coat color dilution in Dexter cattle attributed to a missense mutation in SLC45A2. [PDF]

Anim Genet
Abstract Three colors of Dexter cattle are currently recognized: black, red, and dun. In Dexters, dun is determined by a recessive genotype of TYRP1 (b/b) that dilutes an otherwise black animal (MC1R genotype ED/−); this variant does not impact red cattle.
Fuller AM, Davidson C, Petersen JL.
europepmc   +2 more sources

Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients [PDF]

Biomedicines
Background: oculocutaneous albinism (OCA) is a hereditary impairment of skin, hair, and eye pigmentation. The most common form of albinism is autosomal recessive albinism, caused by mutations in the TYR gene, accounting for approximately 40–50% of all ...
Olga Shchagina, Anna Stepanova, Polina Mishakova, Vitaliy Kadyshev, Nina Demina, Ludmila Bessonova, Sofya Ionova, Daria Guseva, Andrey Marakhonov, Rena Zinchenko, Sergey Kutsev, Aleksander Polyakov   +11 more
doaj   +2 more sources