Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM6_ESM.xlsx › snv-indel-plp-summary
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
39974082 (PubMed )
Supplement: media-5.xlsx › TableS4A-snv-indel-plp-summary
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Green DJ et al.
Nature Communications, 2024
39349469 (PubMed )
Supplement: 41467_2024_52763_MOESM4_ESM.xlsx › supp_data_1
Molecular Modeling of the Multiple-Substrate Activity of the Human Recombinant Intra-Melanosomal Domain of Tyrosinase and Its OCA1B-Related Mutant Variant P406L.
Dolinska MB et al.
International Journal of Molecular Sciences, 2024
Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families.
Zaman Q et al.
Gene, 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
Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations.
Gul H et al.
Annals of Human Genetics, 2019
Structure of Human Tyrosinase Related Protein 1 Reveals a Binuclear Zinc Active Site Important for Melanogenesis.
Lai X et al.
Angewandte Chemie (international Ed. in English), 2017
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.
Shahzad M et al.
Scientific Reports, 2017
28266639 (PubMed )
Supplement: srep44185-s1.pdf
Mutational analysis of oculocutaneous albinism: a compact review.
Kamaraj B et al.
Biomed Research International, 2014
In silico screening and molecular dynamics simulation of disease-associated nsSNP in TYRP1 gene and its structural consequences in OCA3.
Kamaraj B et al.
Biomed Research International, 2013
[Identification of a novel pathogenic mutation in MATP gene with oculocutaneous albinism type IV from a consanguineous marriage family].
Xu B et al.
Zhonghua Yi Xue Za Zhi, 2012
Oculocutaneous albinism type 3 (OCA3): analysis of two novel mutations in TYRP1 gene in two Chinese patients.
Zhang KH et al.
Cell Biochemistry and Biophysics, 2011
Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects.
Rooryck C et al.
Pigment Cell & Melanoma Research, 2008
Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient.
Rooryck C et al.
Pigment Cell Research, 2006
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