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Year Number of Results
2019 13
2020 14
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2022 15
2023 15
2024 9

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Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis.
Zhong Z, Gu L, Zheng X, Ma N, Wu Z, Duan J, Zhang J, Chen J. Zhong Z, et al. Pigment Cell Melanoma Res. 2019 Sep;32(5):672-686. doi: 10.1111/pcmr.12790. Epub 2019 May 29. Pigment Cell Melanoma Res. 2019. PMID: 31077556 Free PMC article.
This study shows that OCA1 is the most common (75/114) and OCA2 ranks the second most common (16/114) in Chinese. 99 patients of our cohort were caused by variants of all the known nsOCA genes. Cutaneous phenotypes of OCA1, OCA2, and OCA4 patients were shown in this …
This study shows that OCA1 is the most common (75/114) and OCA2 ranks the second most common (16/114) in Chinese. 99 patients of our …
Current landscape of Oculocutaneous Albinism in Japan.
Okamura K, Suzuki T. Okamura K, et al. Pigment Cell Melanoma Res. 2021 Mar;34(2):190-203. doi: 10.1111/pcmr.12927. Epub 2020 Oct 7. Pigment Cell Melanoma Res. 2021. PMID: 32969595 Review.
In our survey of 190 Japanese OCA patients/families, OCA4 is the most common subtype (25.3%) followed by OCA1 (20.0%), HPS1 (14.7%), and OCA2 (8.4%). Similar to the A481T variant in OCA2, which is associated with a mild form of OCA2 and skin color variation, …
In our survey of 190 Japanese OCA patients/families, OCA4 is the most common subtype (25.3%) followed by OCA1 (20.0%), HPS1 (14.7%), and …
Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families.
Shakil M, Akbar A, Aisha NM, Hussain I, Ullah MI, Atif M, Kaul H, Amar A, Latif MZ, Qureshi MA, Mahmood S. Shakil M, et al. Genes (Basel). 2022 Mar 12;13(3):503. doi: 10.3390/genes13030503. Genes (Basel). 2022. PMID: 35328057 Free PMC article.
The most common causative genes in non-syndromic OCA are TYR and OCA2 and HSP1 is in the syndromic albinism. The objective of this study was to identify pathogenic variants in congenital OCA families from Pakistan. ...The identification of new and previous pathogenic varia …
The most common causative genes in non-syndromic OCA are TYR and OCA2 and HSP1 is in the syndromic albinism. The objective of this st …
Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center.
Seguy PH, Korobelnik JF, Delyfer MN, Michaud V, Arveiler B, Lasseaux E, Gattoussi S, Rougier MB, Trin K, Morice-Picard F, Ghomashchi N, Coste V. Seguy PH, et al. Invest Ophthalmol Vis Sci. 2023 Sep 1;64(12):26. doi: 10.1167/iovs.64.12.26. Invest Ophthalmol Vis Sci. 2023. PMID: 37707835 Free PMC article.
In the population aged over 6 years, there was no statistical difference in binocular visual acuity between the OCA1, OCA2, and OCA4 forms (P = 0.27). There was difference in ametropia between the three forms (P = 0.003). A two-by-two comparison using the Bonferroni correc …
In the population aged over 6 years, there was no statistical difference in binocular visual acuity between the OCA1, OCA2, and OCA4 …
Structural insights into pink-eyed dilution protein (Oca2).
Mesdaghi S, Murphy DL, Simpkin AJ, Rigden DJ. Mesdaghi S, et al. Biosci Rep. 2023 Jul 26;43(7):BSR20230060. doi: 10.1042/BSR20230060. Biosci Rep. 2023. PMID: 37431738 Free PMC article.
Recent innovations in computational structural biology have opened an opportunity to revise our current understanding of the structure and function of clinically important proteins. This study centres on human Oca2 which is located on mature melanosomal membranes. Mutation …
Recent innovations in computational structural biology have opened an opportunity to revise our current understanding of the structure and f …
Concurrent PANK2 and OCA2 variants in a patient with retinal dystrophy, hypopigmented irides and neurodegeneration.
Wong EWN, Cheng SSW, Woo TTY, Lam RF, Lai FHP. Wong EWN, et al. Ophthalmic Genet. 2023 Aug;44(4):403-407. doi: 10.1080/13816810.2022.2135107. Epub 2022 Nov 4. Ophthalmic Genet. 2023. PMID: 36330599
PURPOSE: To report a case of concurrent pantothenate kinase-associated neurodegeneration (PKAN) and oculocutaneous albinism (OCA) with dual PANK2 and OCA2 variants in a Chinese patient who presented with early-onset reduced vision, nyctalopia, and neurological symptoms. .. …
PURPOSE: To report a case of concurrent pantothenate kinase-associated neurodegeneration (PKAN) and oculocutaneous albinism (OCA) with dual …
Mutational Analysis of TYR, OCA2, SLC45A2, and TYRP1 Genes Identifies Novel and Reported Mutations in Chinese Families with Oculocutaneous Albinism.
Xu B, Chen X, Li H. Xu B, et al. Altern Ther Health Med. 2023 Oct;29(7):278-283. Altern Ther Health Med. 2023. PMID: 37471664 Free article.
RESULTS: Analysis of 40 pedigrees led to a molecular diagnosis for the patients or their parents: 24 (60%) had OCA1, 12 (30%) had OCA2, 1 (2.5%) had OCA3, and 2 (5%) had OCA4. Furthermore, 2.5% of the patients harbored only one heterozygous mutation in OCA2. The mos …
RESULTS: Analysis of 40 pedigrees led to a molecular diagnosis for the patients or their parents: 24 (60%) had OCA1, 12 (30%) had OCA2 …
Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.
Rayner JE, Duffy DL, Smit DJ, Jagirdar K, Lee KJ, De'Ambrosis B, Smithers BM, McMeniman EK, McInerney-Leo AM, Schaider H, Stark MS, Soyer HP, Sturm RA. Rayner JE, et al. PLoS One. 2020 Sep 23;15(9):e0238529. doi: 10.1371/journal.pone.0238529. eCollection 2020. PLoS One. 2020. PMID: 32966289 Free PMC article.
This study assessed previously reported coding variants in albinism genes (TYR, OCA2, TYRP1, SLC45A2, SLC24A5, LRMDA) and common intronic, regulatory variants of OCA2 in individuals with amelanotic/hypomelanotic melanoma, pigmented melanoma cases and controls. ...Va …
This study assessed previously reported coding variants in albinism genes (TYR, OCA2, TYRP1, SLC45A2, SLC24A5, LRMDA) and common intr …
Integrative functional genomic analyses identify genetic variants influencing skin pigmentation in Africans.
Feng Y, Xie N, Inoue F, Fan S, Saskin J, Zhang C, Zhang F, Hansen MEB, Nyambo T, Mpoloka SW, Mokone GG, Fokunang C, Belay G, Njamnshi AK, Marks MS, Oancea E, Ahituv N, Tishkoff SA. Feng Y, et al. Nat Genet. 2024 Feb;56(2):258-272. doi: 10.1038/s41588-023-01626-1. Epub 2024 Jan 10. Nat Genet. 2024. PMID: 38200130
We combine Hi-C, genome editing and melanin assays to identify regulatory elements for MFSD12, HMG20B, OCA2, MITF, LEF1, TRPS1, BLOC1S6 and CYB561A3 that impact melanin levels in vitro and modulate human skin color. We found that independent mutations in an OCA2 enh …
We combine Hi-C, genome editing and melanin assays to identify regulatory elements for MFSD12, HMG20B, OCA2, MITF, LEF1, TRPS1, BLOC1 …
Genome-wide association studies and polygenic risk scores for skin cancer: clinically useful yet?
Roberts MR, Asgari MM, Toland AE. Roberts MR, et al. Br J Dermatol. 2019 Dec;181(6):1146-1155. doi: 10.1111/bjd.17917. Epub 2019 Jul 7. Br J Dermatol. 2019. PMID: 30908599 Free PMC article. Review.
Six loci in pigmentation genes overlap between these three cancers (ASIP/RALY, IRF4, MC1R, OCA2, SLC45A2 and TYR). Additional loci overlap for cSCC/BCC and BCC/melanoma, but no other loci are shared between cSCC and melanoma. ...
Six loci in pigmentation genes overlap between these three cancers (ASIP/RALY, IRF4, MC1R, OCA2, SLC45A2 and TYR). Additional loci ov …
74 results