ReviewBioMed research international2014
Mutational analysis of oculocutaneous albinism: a compact review.
Review in BioMed research international, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
61 citing papers in PubMed, 153 citations in OpenAlex.
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- A Recessive oca2 Mutation Underlies Albinism in Xiphophorus Fish.Pigment cell & melanoma research · 2026Article
- Clinical Manifestations and Genetic Spectrum of Oculocutaneous Albinism Type 2 in Chinese Patients.Genes · 2026Article
- Cave evolution on repeat: reuse of the same genomic regions across lineages but not across traits inbioRxiv : the preprint server for biology · 2026Article
- Identification of TYR gene variants associated with white coat color in Hanwoo cattle using whole-genome sequencing.BMC genomics · 2026Article
- Genetic Diagnosis of Oculocutaneous Albinism Type 1A: A NovelClinical case reports · 2025Article
- Germline Non-CDKN2A Variants in Melanoma and Associated Hereditary Cancer Syndromes.Diseases (Basel, Switzerland) · 2025Review
- Advancing Insights into Pediatric Macular Diseases: A Comprehensive Review.Journal of clinical medicine · 2025Review
- Deciphering gene-smoking interactions in age-related macular degeneration through cross-biobank genomic integration.Tobacco induced diseases · 2025Article
- Tyrp1 is the mendelian determinant of the Axolotl (Ambystoma mexicanum) copper mutant.Scientific reports · 2024Article
- Functional analysis of two mutation sites in the OCA2 gene.Scientific reports · 2024Article
- What Have We Learned about the Prevention of NMSC from Albino Patients from Malawi? Secondary Prevention Maintained over Time.Cancers · 2024Article
- Validity of Xiphophorus fish as models for human disease.Disease models & mechanisms · 2024Review
- Expression and Mutation ofThe journal of poultry science · 2024Article
- Advances in the engineering of the outer blood-retina barrier: From in-vitro modelling to cellular therapy.Bioactive materials · 2024Review
- Chromosome-level reference genome for North American bison (Bison bison) and variant database aids in identifying albino mutation.G3 (Bethesda, Md.) · 2023Article
- Uncovering Footprints of Natural Selection Through Spectral Analysis of Genomic Summary Statistics.Molecular biology and evolution · 2023Article
- Article
- Genetic analyses of Vietnamese patients with oculocutaneous albinism.Journal of clinical laboratory analysis · 2022Article
1 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Oculocutaneous albinism (OCA) is an autosomal recessive disorder caused by either complete lack of or a reduction of melanin biosynthesis in the melanocytes. The OCA1A is the most severe type with a complete lack of melanin production throughout life, while the milder forms OCA1B, OCA2, OCA3, and OCA4 show some pigment accumulation over time. Mutations in TYR, OCA2, TYRP1, and SLC45A2 are mainly responsible for causing oculocutaneous albinism. Recently, two new genes SLC24A5 and C10orf11 are identified that are responsible to cause OCA6 and OCA7, respectively. Also a locus has been mapped to the human chromosome 4q24 region which is responsible for genetic cause of OCA5. In this paper, we summarized the clinical and molecular features of OCA genes. Further, we reviewed the screening of pathological mutations of OCA genes and its molecular mechanism of the protein upon mutation by in silico approach. We also reviewed TYR (T373K, N371Y, M370T, and P313R), OCA2 (R305W), TYRP1 (R326H and R356Q) mutations and their structural consequences at molecular level. It is observed that the pathological genetic mutations and their structural and functional significance of OCA genes will aid in development of personalized medicine for albinism patients.
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