Associated Papers
Curation of OCA2 Variants of Uncertain Significance From Chinese Oculocutaneous Albinism Patients Based on Multiplex Assays.
Yang Q et al.
Pigment Cell & Melanoma Research, 2025
Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family.
Wang Y et al.
Hereditas, 2024
Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism.
Jiang B et al.
Molecular Genetics & Genomic Medicine, 2024
The qMini assay identifies an overlooked class of splice variants.
Guan B et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Somatic Mutational Landscape in Mexican Patients: CDH1 Mutations and chr20q13.33 Amplifications Are Associated with Diffuse-Type Gastric Adenocarcinoma.
Cerrato-Izaguirre D et al.
International Journal of Molecular Sciences, 2022
Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.
Miao M et al.
Bmc Medical Genomics, 2022
Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene.
Marek-Yagel D et al.
Frontiers in Genetics, 2022
Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure.
Litts KM et al.
Translational Vision Science & Technology, 2021
A new type of oculocutaneous albinism with a novel OCA2 mutation.
Lee SY et al.
Yeungnam University Journal of Medicine, 2021
Current landscape of Oculocutaneous Albinism in Japan.
Okamura K et al.
Pigment Cell & Melanoma Research, 2021
Deregulated Immune Pathway Associated with Palbociclib Resistance in Preclinical Breast Cancer Models: Integrative Genomics and Transcriptomics.
Pandey K et al.
Genes, 2021
Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism.
Ma L et al.
Frontiers in Genetics, 2021
Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.
Rayner JE et al.
Plos One, 2020
NGS-based targeted resequencing identified rare subtypes of albinism: Providing accurate molecular diagnosis for Japanese patients with albinism.
Okamura K et al.
Pigment Cell & Melanoma Research, 2019
Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations.
Yang Q et al.
Bmc Medical Genetics, 2019
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Variants at the OCA2/HERC2 locus affect time to first cutaneous squamous cell carcinoma in solid organ transplant recipients collected using two different study designs.
Wei L et al.
The British Journal of Dermatology, 2017
Understanding mutational effects in digenic diseases.
Gazzo A et al.
Nucleic Acids Research, 2017
Skin Pigmentation Genetics for the Clinic.
Ainger SA et al.
Dermatology (basel, Switzerland), 2017
Genetic analyses of oculocutaneous albinism types 2 and 4 with eight novel mutations.
Okamura K et al.
Journal of Dermatological Science, 2016
Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.
Ilyas M et al.
Bmc Genomics, 2015
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
Oculocutaneous albinism (OCA) in Japanese patients: five novel mutations.
Okamura K et al.
Journal of Dermatological Science, 2014
Variants in melanogenesis-related genes associate with skin cancer risk among Japanese populations.
Yoshizawa J et al.
The Journal of Dermatology, 2014
Computational screening of disease-associated mutations in OCA2 gene.
Kamaraj B et al.
Cell Biochemistry and Biophysics, 2014
Association of melanogenesis genes with skin color variation among Japanese females.
Abe Y et al.
Journal of Dermatological Science, 2013
Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism.
Wei A et al.
Journal of Dermatological Science, 2011
Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism.
Preising MN et al.
Molecular Vision, 2011
Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism.
Grønskov K et al.
Investigative Ophthalmology & Visual Science, 2009
Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.
Hutton SM et al.
The Journal of Investigative Dermatology, 2008
Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4.
Suzuki T et al.
Journal of Dermatological Science, 2008
Two novel splice mutations of P gene in a Thai-Chinese patient with oculocutaneous albinism type II (OCA2).
Wattanasirichaigoon D et al.
Journal of Dermatological Science, 2008
OCA2 481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations.
Yuasa I et al.
Journal of Human Genetics, 2007
A patient with subclinical oculocutaneous albinism type 2 diagnosed on getting severely sunburned.
Kawai M et al.
Dermatology (basel, Switzerland), 2005
Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene.
Fridman C et al.
American Journal of Medical Genetics. Part A, 2003
High frequency of the Ala481Thr mutation of the P gene in the Japanese population.
Suzuki T et al.
American Journal of Medical Genetics. Part A, 2003
A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2).
Kato A et al.
Journal of Dermatological Science, 2003
Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.
Oetting WS et al.
Human Mutation, 1999
Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences.
Sviderskaya EV et al.
The Journal of Investigative Dermatology, 1997