Associated Papers
Identifying genetic defects in oculocutaneous albinism patients of West Bengal, Eastern India.
Dutta T et al.
Molecular Biology Reports, 2024
Ancestral origins of TYR and OCA2 gene mutations in oculocutaneous albinism from two admixed populations in Colombia.
Cárdenas WA et al.
Plos One, 2024
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Michaud V et al.
Nature Communications, 2022
35803923 (PubMed )
Supplement: 41467_2022_31392_MOESM4_ESM.xlsx › Supplementary-Table_1
Mapping the TYR gene reveals novel and previously reported variants in Eastern Indian patients highlighting preponderance of the same changes in multiple unrelated ethnicities.
Ganguly K et al.
Annals of Human Genetics, 2020
Identification and Computational Analysis of Novel TYR and SLC45A2 Gene Mutations in Pakistani Families With Identical Non-syndromic Oculocutaneous Albinism.
Bibi N et al.
Frontiers in Genetics, 2020
32849781 (PubMed )
Supplement: Data_Sheet_2.docx
Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene.
Monfermé S et al.
The British Journal of Ophthalmology, 2019
Oculocutaneous albinism (OCA) in Colombia: first molecular screening of the TYR and OCA2 genes in South America.
Urtatiz O et al.
Journal of Dermatological Science, 2014
Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).
Ghodsinejad Kalahroudi V et al.
Plos One, 2014
Analysis of MC1R variants in Indian oculocutaneous albinism patients: highlighting the risk of skin cancer among albinos.
Sengupta M et al.
Journal of Genetics, 2013
[An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals].
Sanabria D et al.
Biomedica : Revista Del Instituto Nacional De Salud, 2012
Molecular and functional studies of tyrosinase variants among Indian oculocutaneous albinism type 1 patients.
Chaki M et al.
The Journal of Investigative Dermatology, 2011
Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis.
He N et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2007
OCA1 in different ethnic groups of india is primarily due to founder mutations in the tyrosinase gene.
Chaki M et al.
Annals of Human Genetics, 2006
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