Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 73 Records) |
Query Trace: SLC45A2[original query] |
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Haplotypes from the SLC45A2 gene are associated with the presence of freckles and eye, hair and skin pigmentation in Brazil. Legal medicine (Tokyo, Japan) 2017 Mar 25 43-51. Fracasso Nádia Carolina de Aguiar, de Andrade Edilene Santos, Wiezel Cláudia Emília Vieira, Andrade Claudia Caixeta Franco, Zanão Lídia Renata, da Silva Mateus Spinelli, Marano Leonardo Arduino, Donadi Eduardo Antônio, C Castelli Erick, Simões Aguinaldo Luiz, Mendes-Junior Celso Teixei |
Genome-Wide Association Shows that Pigmentation Genes Play a Role in Skin Aging.
The Journal of investigative dermatology 2017 Sep 137 (9): 1887-1894. Law Matthew H, Medland Sarah E, Zhu Gu, Yazar Seyhan, Viñuela Ana, Wallace Leanne, Shekar Sri Niranjan, Duffy David L, Bataille Veronique, Glass Dan, Spector Tim D, Wood Diane, , Gordon Scott D, Barbour Julie M, Henders Anjali K, Hewitt Alex W, Montgomery Grant W, Sturm Richard A, Mackey David A, Green Adèle C, Martin Nicholas G, MacGregor Stua |
Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting. Pigment cell & melanoma research 2017 10 31 (2): 318-329. Marti Aurélie, Lasseaux Eulalie, Ezzedine Khaled, Léauté-Labrèze Christine, Boralevi Franck, Paya Clément, Coste Valentine, Deroissart Vincent, Arveiler Benoit, Taieb Alain, Morice-Picard Fan |
Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.
Journal of medical genetics 2018 Aug . Galván-Femenía Iván, Obón-Santacana Mireia, Piñeyro David, Guindo-Martinez Marta, Duran Xavier, Carreras Anna, Pluvinet Raquel, Velasco Juan, Ramos Laia, Aussó Susanna, Puig Lluis, Perucho Manuel, Torrents David, Moreno Victor, Sumoy Lauro, de Cid Rafa |
Genetic variants associated with skin photosensitivity in a southern European population from Spain. Photodermatology, photoimmunology & photomedicine 2018 Jul . Hernando Barbara, Sanz-Page Elena, Pitarch Gerard, Mahiques Laura, Valcuende-Cavero Francisca, Martinez-Cadenas Conra |
A 4-bp deletion promoter variant (rs984225803) is associated with mild OCA4 among Japanese patients. Pigment cell & melanoma research 2018 Jul . Okamura Ken, Hayashi Masahiro, Nakajima Osamu, Kono Michihiro, Abe Yuko, Hozumi Yutaka, Suzuki Tam |
Assessment of rosacea symptom severity by genome-wide association study and expression analysis highlights immuno-inflammatory and skin pigmentation genes.
Human molecular genetics 2018 May . Aponte Jennifer L, Chiano Mathias N, Yerges-Armstrong Laura M, Hinds David A, Tian Chao, Gupta Akansha, Guo Cong, Fraser Dana J, Freudenberg Johannes M, Rajpal Deepak K, Ehm Margaret G, Waterworth Dawn |
Associations between sun sensitive pigmentary genes and serum prostate specific antigen levels. PloS one 2018 13 (3): e0193893. Nair-Shalliker Visalini, Egger Sam, Chrzanowska Agata, Mason Rebecca, Waite Louise, Le Couteur David, Seibel Markus J, Handelsman David J, Cumming Robert, Smith David P, Armstrong Bruce |
Identification of Five Novel Variants in Chinese Oculocutaneous Albinism by Targeted Next-Generation Sequencing. Genetic testing and molecular biomarkers 2018 2 22 (4): 252-258. Qiu Biyuan, Ma Tao, Peng Chunyan, Zheng Xiaoqin, Yang Jiy |
Identification of a Homozygous Missense Mutation in the TYR Gene in a Chinese Family with OCA1. Current medical science 2018 10 38 (5): 932-936. Wang Yan, Zhou Yi-Fan, Shen Na, Zhu Yao-Wu, Tan Kun, Wang Xio |
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 |
Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma. Pigment cell & melanoma research 2019 Jun . Nathan Vaishnavi, Johansson Peter A, Palmer Jane M, Howlie Madeleine, Hamilton Hayley R, Wadt Karin, Jönsson Göran, Brooks Kelly M, Pritchard Antonia L, Hayward Nicholas |
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 |
[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 polymorphisms associated with increased risk of melanoma in a case-control sample from southern Brazil. BMC cancer 2020 Nov 20 (1): 1069. Reis Larissa B, Bakos Renato M, Vianna Fernanda S L, Macedo Gabriel S, Jacovas Vanessa C, Ribeiro-Dos-Santos André M, Santos Sidney, Bakos Lúcio, Ashton-Prolla Patric |
Detection of fusion gene transcripts in the blood samples of prostate cancer patients. Scientific reports 2021 8 11 (1): 16995. Yu Yan-Ping, Liu Silvia, Nelson Joel, Luo Jian-H |
Association of pigmentation related-genes polymorphisms and geographic environmental variables in the Chinese population. Hereditas 2021 Jul 158 (1): 24. Wang Yux |
Analysis of Skin Pigmentation and Genetic Ancestry in Three Subpopulations from Pakistan: Punjabi, Pashtun, and Baloch. Genes 2021 6 12 (5): . Shan Muhammad Adnan, Meyer Olivia Strunge, Refn Mie, Morling Niels, Andersen Jeppe Dyrberg, Børsting Cla |
A genome-wide association study identifies novel gene associations with facial skin wrinkling and mole count in Latin Americans.
The British journal of dermatology 2021 5 185 (5): 988-998. Chen Y, André M, Adhikari K, Blin M, Bonfante B, Mendoza-Revilla J, Fuentes-Guajardo M, Palmal S, Chacón-Duque J C, Hurtado M, Villegas V, Granja V, Jaramillo C, Arias W, Lozano R B, Everardo-Martínez P, Gómez-Valdés J, Villamil-Ramírez H, de Cerqueira C C S, Hünemeier T, Ramallo V, Gonzalez-José R, Schüler-Faccini L, Bortolini M-C, Acuña-Alonzo V, Canizales-Quinteros S, Gallo C, Poletti G, Bedoya G, Rothhammer F, Balding D, Tobin D J, Wang S, Faux P, Ruiz-Linares |
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 |
Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism. Acta chimica Slovenica 2021 12 68 (3): 683-692. Hovnik Tinka, Debeljak Maruša, Tekav?i? Pompe Manca, Bertok Sara, Battelino Tadej, Stirn Kranjc Branka, Trebušak Podkrajšek Katari |
Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program.
Genome medicine 2021 8 13 (1): 136. Cade Brian E, Lee Jiwon, Sofer Tamar, Wang Heming, Zhang Man, Chen Han, Gharib Sina A, Gottlieb Daniel J, Guo Xiuqing, Lane Jacqueline M, Liang Jingjing, Lin Xihong, Mei Hao, Patel Sanjay R, Purcell Shaun M, Saxena Richa, Shah Neomi A, Evans Daniel S, Hanis Craig L, Hillman David R, Mukherjee Sutapa, Palmer Lyle J, Stone Katie L, Tranah Gregory J, , Abecasis Gonçalo R, Boerwinkle Eric A, Correa Adolfo, Cupples L Adrienne, Kaplan Robert C, Nickerson Deborah A, North Kari E, Psaty Bruce M, Rotter Jerome I, Rich Stephen S, Tracy Russell P, Vasan Ramachandran S, Wilson James G, Zhu Xiaofeng, Redline Susan, |
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 |
Genetical Signature-An Example of a Personalized Skin Aging Investigation with Possible Implementation in Clinical Practice. Journal of personalized medicine 2023 9 13 (9): . Ramune Sepetiene, Vaiva Patamsyte, Paulius Valiukevicius, Emilija Gecyte, Vilius Skipskis, Dovydas Gecys, Zita Stanioniene, Svajunas Barakausk |
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 |
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:Apr 29, 2024
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