Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 119 Records) |
Query Trace: OCA2[original query] |
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Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation in recently admixed populations.
BMC genetics 2019 Jul 20 (1): 59. Lona-Durazo Frida, Hernandez-Pacheco Natalia, Fan Shaohua, Zhang Tongwu, Choi Jiyeon, Kovacs Michael A, Loftus Stacie K, Le Phuong, Edwards Melissa, Fortes-Lima Cesar A, Eng Celeste, Huntsman Scott, Hu Donglei, Gómez-Cabezas Enrique Javier, Marín-Padrón Lilia Caridad, Grauholm Jonas, Mors Ole, Burchard Esteban G, Norton Heather L, Pavan William J, Brown Kevin M, Tishkoff Sarah, Pino-Yanes Maria, Beleza Sandra, Marcheco-Teruel Beatriz, Parra Esteban |
Clinical and genetic variability in children with partial albinism. Scientific reports 2019 11 9 (1): 16576. Campbell Patrick, Ellingford Jamie M, Parry Neil R A, Fletcher Tracy, Ramsden Simon C, Gale Theodora, Hall Georgina, Smith Katherine, Kasperaviciute Dalia, Thomas Ellen, Lloyd I Chris, Douzgou Sofia, Clayton-Smith Jill, Biswas Susmito, Ashworth Jane L, Black Graeme C M, Sergouniotis Panagiotis |
Functional annotation of melanoma risk loci identifies novel susceptibility genes. Carcinogenesis 2019 Oct . Fang Shenying, Lu Jiachun, Zhou Xinke, Wang Yuling, Ross Merrick I, Gershenwald Jeffrey E, Cormier Janice N, Wargo Jennifer, Sui Dawen, Amos Christopher I, Lee Jeffrey |
Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants. PloS one 2020 9 15 (9): e0238529. Rayner Jenna E, Duffy David L, Smit Darren J, Jagirdar Kasturee, Lee Katie J, De'Ambrosis Brian, Smithers B Mark, McMeniman Erin K, McInerney-Leo Aideen M, Schaider Helmut, Stark Mitchell S, Soyer H Peter, Sturm Richard |
SLC45A2 protein stability and regulation of melanosome pH determine melanocyte pigmentation. Molecular biology of the cell 2020 9 31 (24): 2687-2702. Le Linh, Escobar Iliana E, Ho Tina, Lefkovith Ariel J, Latteri Emily, Haltaufderhyde Kirk D, Dennis Megan K, Plowright Lynn, Sviderskaya Elena V, Bennett Dorothy C, Oancea Elena, Marks Michael |
Association between brown eye colour in rs12913832:GG individuals and SNPs in TYR, TYRP1, and SLC24A4. PloS one 2020 9 15 (9): e0239131. Meyer Olivia S, Lunn Maja M B, Garcia Sara L, Kjærbye Anne B, Morling Niels, Børsting Claus, Andersen Jeppe |
Mitochondrial and Nuclear Mitochondrial Variants in Allergic Diseases. Allergy, asthma & immunology research 2020 Sep 12 (5): 877-884. Jang Haerin, Kim Mina, Hong Jung Yeon, Cho Hyung Ju, Kim Chang Hoon, Kim Yoon Hee, Sohn Myung Hyun, Kim Kyung W |
[Spectrum of pathological genetic variants among 405 Chinese pedigrees affected with oculocutaneous albinism]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 7 37 (7): 725-730. Wang Conghui, Chen Chen, Zhao Xuechao, Zhao Ganye, Liu Lina, Kong Xiangdo |
Skin pigmentation and genetic variants in an admixed Brazilian population of primarily European ancestry. International journal of legal medicine 2020 May . Andersen Jeppe D, Meyer Olivia S, Simão Filipa, Jannuzzi Juliana, Carvalho Elizeu, Andersen Mikkel M, Pereira Vania, Børsting Claus, Morling Niels, Gusmão Leon |
Clinical albinism score, presence of nystagmus and optic nerves defects are correlated with visual outcome in patients with oculocutaneous albinism. Ophthalmic genetics 2021 7 42 (5): 539-552. Dumitrescu Alina V, Tran Johnny, Pfeifer Wanda, Bhattarai Sajag V, Kemerley Andrew, Dunn Taylor V, Wang Kai, Scheetz Tod E, Drack Arle |
A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus. Human mutation 2021 7 42 (10): 1239-1253. Loftus Stacie K, Lundh Linnea, Watkins-Chow Dawn E, Baxter Laura L, Pairo-Castineira Erola, Nisc Comparative Sequencing Program , Jackson Ian J, Oetting William S, Pavan William J, Adams David |
Identification of OCA2 as a novel locus for the co-morbidity of asthma-plus-eczema.
Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology 2021 Jun . Margaritte-Jeannin Patricia, Budu-Aggrey Ashley, Ege Markus, Madore Anne-Marie, Linhard Christophe, Mohamdi Hamida, von Mutius Erika, Granell Raquel, Demenais Florence, Laprise Catherine, Bouzigon Emmanuelle, Dizier Marie-Hélè |
The Genetic Germline Background of Single and Multiple Primary Melanomas. Frontiers in molecular biosciences 2021 3 7 555630. De Summa Simona, Lasorella Antonia, Strippoli Sabino, Giudice Giuseppe, Guida Gabriella, Elia Rossella, Nacchiero Eleonora, Azzariti Amalia, Silvestris Nicola, Guida Michele, Guida Stefania, Tommasi Stefania, Pinto Rosamar |
Discordant phenotypes in twins with infantile nystagmus. Scientific reports 2021 2 11 (1): 2826. Aamir Abdullah, Kuht Helen J, McLean Rebecca J, Maconachie Gail D E, Sheth Viral, Dawar Basu, Purohit Ravi, Sylvius Nicolas, Hisaund Michael, Zubcov-Iwantscheff Alina, Proudlock Frank A, Gottlob Irene, Thomas Mervyn |
Genetic loci associated with skin pigmentation in African Americans and their effects on vitamin D deficiency.
PLoS genetics 2021 Feb 17 (2): e1009319. Batai Ken, Cui Zuxi, Arora Amit, Shah-Williams Ebony, Hernandez Wenndy, Ruden Maria, Hollowell Courtney M P, Hooker Stanley E, Bathina Madhavi, Murphy Adam B, Bonilla Carolina, Kittles Rick |
Further insight into the global variability of the OCA2-HERC2 locus for human pigmentation from multiallelic markers. Scientific reports 2021 11 11 (1): 22530. Suarez Philippe, Baumer Karine, Hall Dia |
Genome-wide association study identifies multiple genetic loci for skin color in Korean women.
The Journal of investigative dermatology 2021 10 . Seo Jung Yeon, You Seung Won, Shin Joong-Gon, Kim Yunkwan, Park Sun Gyoo, Won Hong-Hee, Kang Nae G |
Molecular genetic characterization of Congolese patients with oculocutaneous albinism. European journal of medical genetics 2022 9 65 (11): 104611. Laetitia Mavinga Mpola, Veronique Kakiese, Mamy Ngole Zita, Cathy Songo Mbodo, Aimé Lumaka, Race Valerie, Prosper Lukusa Tshilobo, Devriendt Koenra |
Identification of 12 OCA Cases in Chinese Population and Two Novel Variants. Frontiers in genetics 2022 8 13 926511. Zhong Zilin, Zhou Zheng, Chen Jianjun, Zhang J |
Investigating the genetic architecture of eye colour in a Canadian cohort. iScience 2022 Jun 25 (6): 104485. Lona-Durazo Frida, Thakur Rohit, Pairo-Castineira Erola, Funderburk Karen, Zhang Tongwu, Kovacs Michael A, Choi Jiyeon, Jackson Ian J, Brown Kevin M, Parra Esteban |
Abnormal foveal morphology in carriers of oculocutaneous albinism. The British journal of ophthalmology 2022 4 . Kuht Helen J, Thomas Mervyn G, McLean Rebecca J, Sheth Viral, Proudlock Frank A, Gottlob Ire |
NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism. BMC genomics 2022 4 23 (1): 332. Xiao Yuanyuan, Zhou Cong, Xie Hanbing, Huang Shuang, Wang Jing, Liu Shanli |
[Genetic testing and prenatal diagnosis for thirteen Chinese pedigrees affected with oculocutaneous albinism]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 1 39 (2): 143-147. Yang Yujiao, Mao Bin, Wang Qiong, Lie Shubing, Zhang Ruixuan, Zhao Xiu |
Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center. Investigative ophthalmology & visual science 2023 9 64 (12): 26. Paul-Henri Seguy, Jean-François Korobelnik, Marie-Noëlle Delyfer, Vincent Michaud, Benoit Arveiler, Eulalie Lasseaux, Sarra Gattoussi, Marie-Bénédicte Rougier, Kilian Trin, Fanny Morice-Picard, Nathalie Ghomashchi, Valentine Cos |
Mutational Analysis of TYR, OCA2, SLC45A2, and TYRP1 Genes Identifies Novel and Reported Mutations in Chinese Families with Oculocutaneous Albinism. Alternative therapies in health and medicine 2023 7 . Bei Xu, Xiaofei Chen, Hongyi |
Native American genetic ancestry and pigmentation allele contributions to skin color in a caribbean population. eLife 2023 6 12 . Khai C Ang, Victor A Canfield, Tiffany C Foster, Thaddeus D Harbaugh, Kathryn A Early, Rachel L Harter, Katherine P Reid, Shou Ling Leong, Yuka Kawasawa, Dajiang Liu, John W Hawley, Keith C Che |
Identification of Polymorphisms in the HERC2-OCA2 Gene Locus and their Association with Feather Color in Quail. The journal of poultry science 2023 5 60 (2): 2023013. Xiaohui Zhang, Yanxia Qi, Youzhi Pang, Bingjie Yuan, Xiaolong |
Genetic landscape of forensic DNA phenotyping markers among Mediterranean populations. Forensic science international 2023 12 354 111906. Dorra Becher, Haifa Jmel, Nadia Kheriji, Stefania Sarno, Rym Ke |
Diagnostic Yield of Genetic Testing for Ocular and Oculocutaneous Albinism in a Diverse United States Pediatric Population. Genes 2023 1 14 (1): . Chan Kyle S, Bohnsack Brenda L, Ing Alexander, Drackley Andy, Castelluccio Valerie, Zhang Kevin X, Ralay-Ranaivo Hanta, Rossen Jennifer |
Skin Phototype and Disease: A Comprehensive Genetic Approach to Pigmentary Traits Pleiotropy Using PRS in the GCAT Cohort.
Genes 2023 1 14 (1): . Farré Xavier, Blay Natalia, Cortés Beatriz, Carreras Anna, Iraola-Guzmán Susana, de Cid Rafa |
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- Page last updated:Jun 11, 2024
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