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Items: 1 to 20 of 60

1.
Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism
Beilei Jiang, Hua Zhang, Yuling Kan, Xueping Gao, Zhaoli Du, Quan Liu
Mol Genet Genomic Med. 2024 Jan; 12(1): e2297. Published online 2023 Oct 26. doi: 10.1002/mgg3.2297
PMCID:
PMC10767448
AbstractArticlePDF–4.9M
2.
Native American genetic ancestry and pigmentation allele contributions to skin color in a Caribbean population
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 Cheng
eLife. 2023; 12: e77514. Published online 2023 Jun 9. doi: 10.7554/eLife.77514
PMCID:
PMC10371226
AbstractArticlePDF–2.0M
3.
Key molecules associated with thyroid carcinoma prognosis: A study based on transcriptome sequencing and GEO datasets
Miaoyu Bai, Shanjia Ke, Hongjun Yu, Yanan Xu, Yue Yu, Shounan Lu, Chaoqun Wang, Jingjing Huang, Yong Ma, Wenjie Dai, Yaohua Wu
Front Immunol. 2022; 13: 964891. Published online 2022 Aug 17. doi: 10.3389/fimmu.2022.964891
PMCID:
PMC9428590
AbstractArticlePDF–13M
4.
Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families
Muhammad Shakil, Abida Akbar, Nazish Mahmood Aisha, Intzar Hussain, Muhammad Ikram Ullah, Muhammad Atif, Haiba Kaul, Ali Amar, Muhammad Zahid Latif, Muhammad Atif Qureshi, Saqib Mahmood
Genes (Basel) 2022 Mar; 13(3): 503. Published online 2022 Mar 12. doi: 10.3390/genes13030503
PMCID:
PMC8950407
AbstractArticlePDF–2.4M
5.
Further insight into the global variability of the OCA2-HERC2 locus for human pigmentation from multiallelic markers
Philippe Suarez, Karine Baumer, Diana Hall
Sci Rep. 2021; 11: 22530. Published online 2021 Nov 18. doi: 10.1038/s41598-021-01940-w
PMCID:
PMC8602267
AbstractArticlePDF–1.7M
6.
A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus
Stacie K. Loftus, Linnea Lundh, Dawn E. Watkins-Chow, Laura L. Baxter, Erola Pairo-Castineira, NISC Comparative Sequencing Program, Ian J. Jackson, William S. Oetting, William J. Pavan, David R. Adams
Hum Mutat. Author manuscript; available in PMC 2022 Oct 1.
Published in final edited form as: Hum Mutat. 2021 Oct; 42(10): 1239–1253. Published online 2021 Aug 1. doi: 10.1002/humu.24257
PMCID:
PMC8435020
AbstractArticlePDF–941K
7.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
8.
Genetic Causes of Oculocutaneous Albinism in Pakistani Population
Zureesha Sajid, Sairah Yousaf, Yar M. Waryah, Tauqeer A. Mughal, Tasleem Kausar, Mohsin Shahzad, Ali R. Rao, Ansar A. Abbasi, Rehan S. Shaikh, Ali M. Waryah, Saima Riazuddin, Zubair M. Ahmed
Genes (Basel) 2021 Apr; 12(4): 492. Published online 2021 Mar 28. doi: 10.3390/genes12040492
PMCID:
PMC8066997
AbstractArticlePDF–4.7M
9.
SLC45A2 protein stability and regulation of melanosome pH determine melanocyte pigmentation
Linh Le, Iliana E. Escobar, Tina Ho, Ariel J. Lefkovith, Emily Latteri, Kirk D. Haltaufderhyde, Megan K. Dennis, Lynn Plowright, Elena V. Sviderskaya, Dorothy C. Bennett, Elena Oancea, Michael S. Marks
Mol Biol Cell. 2020 Nov 15; 31(24): 2687–2702. doi: 10.1091/mbc.E20-03-0200
PMCID:
PMC7927184
AbstractArticlePDF–2.9M
10.
Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants
Jenna E. Rayner, David L. Duffy, Darren J. Smit, Kasturee Jagirdar, Katie J. Lee, Brian De’Ambrosis, B. Mark Smithers, Erin K. McMeniman, Aideen M. McInerney-Leo, Helmut Schaider, Mitchell S. Stark, H. Peter Soyer, Richard A. Sturm
PLoS One. 2020; 15(9): e0238529. Published online 2020 Sep 23. doi: 10.1371/journal.pone.0238529
PMCID:
PMC7510969
AbstractArticlePDF–887K
11.
The distinctive geographic patterns of common pigmentation variants at the OCA2 gene
Kenneth K. Kidd, Andrew J. Pakstis, Michael P. Donnelly, Ozlem Bulbul, Lotfi Cherni, Cemal Gurkan, Longli Kang, Hui Li, Libing Yun, Peristera Paschou, Kelly A. Meiklejohn, Eva Haigh, William C. Speed
Sci Rep. 2020; 10: 15433. Published online 2020 Sep 22. doi: 10.1038/s41598-020-72262-6
PMCID:
PMC7508881
AbstractArticlePDF–1.7M
12.
Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report
Hairong Wang, Yang Wan, Yun Yang, Hao Li, Liangwei Mao, Shuyang Gao, Jingjing Xu, Jing Wang
BMC Med Genet. 2019; 20: 130. Published online 2019 Jul 25. doi: 10.1186/s12881-019-0850-7
PMCID:
PMC6659248
AbstractArticlePDF–1.4M
13.
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
L. Wei, D.C. Allain, M.N. Bernhardt, J.L. Gillespie, S.B. Peters, O.H. Iwenofu, H.H. Nelson, S.T. Arron, A.E. Toland
Br J Dermatol. Author manuscript; available in PMC 2018 Oct 1.
Published in final edited form as: Br J Dermatol. 2017 Oct; 177(4): 1066–1073. Published online 2017 Sep 8. doi: 10.1111/bjd.15618
PMCID:
PMC5650498
AbstractArticlePDF–265K
14.
Architecture of the human interactome defines protein communities and disease networks
Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper
Nature. Author manuscript; available in PMC 2017 Nov 17.
Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366
PMCID:
PMC5531611
AbstractArticlePDF–2.7M
15.
A Genetic Mechanism for Convergent Skin Lightening during Recent Human Evolution
Zhaohui Yang, Hua Zhong, Jing Chen, Xiaoming Zhang, Hui Zhang, Xin Luo, Shuhua Xu, Hua Chen, Dongsheng Lu, Yinglun Han, Jinkun Li, Lijie Fu, Xuebin Qi, Yi Peng, Kun Xiang, Qiang Lin, Yan Guo, Ming Li, Xiangyu Cao, Yanfeng Zhang, Shiyu Liao, Yingmei Peng, Lin Zhang, Xiaosen Guo, Shanshan Dong, Fan Liang, Jun Wang, Andrew Willden, Hong Seang Aun, Bun Serey, Tuot Sovannary, Long Bunnath, Ham Samnom, Graeme Mardon, Qingwei Li, Anming Meng, Hong Shi, Bing Su
Mol Biol Evol. 2016 May; 33(5): 1177–1187. Published online 2016 Jan 6. doi: 10.1093/molbev/msw003
PMCID:
PMC4839214
AbstractArticlePDF–782K
16.
Report of a Novel OCA2 Gene Mutation and an Investigation of Two OCA2 Variants on Melanoma Predisposition in a Familial Melanoma Pedigree
Jason E. Hawkes, Pamela B. Cassidy, Prashiela Manga, Raymond E. Boissy, David Goldgar, Lisa Cannon-Albright, Scott R. Florell, Sancy A. Leachman
J Dermatol Sci. Author manuscript; available in PMC 2016 Mar 2.
Published in final edited form as: J Dermatol Sci. 2013 Jan; 69(1): 30–37. Published online 2012 Oct 13. doi: 10.1016/j.jdermsci.2012.09.016
PMCID:
PMC4775076
AbstractArticlePDF–543K
17.
Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism
Yun Wang, Zhi Wang, Mengping Chen, Ning Fan, Jie Yang, Lu Liu, Ying Wang, Xuyang Liu
PLoS One. 2015; 10(4): e0125651. Published online 2015 Apr 28. doi: 10.1371/journal.pone.0125651
PMCID:
PMC4412409
AbstractArticlePDF–554K
18.
An intracellular anion channel critical for pigmentation
Nicholas W Bellono, Iliana E Escobar, Ariel J Lefkovith, Michael S Marks, Elena Oancea
eLife. 2014; 3: e04543. Published online 2014 Dec 16. doi: 10.7554/eLife.04543
PMCID:
PMC4270065
AbstractArticlePDF–2.2M
19.
Gene Network Analysis in a Pediatric Cohort Identifies Novel Lung Function Genes
Bruce A. Ong, Jin Li, Joseph M. McDonough, Zhi Wei, Cecilia Kim, Rosetta Chiavacci, Frank Mentch, Jason B. Caboot, Jonathan Spergel, Julian L. Allen, Patrick M. A. Sleiman, Hakon Hakonarson
PLoS One. 2013; 8(9): e72899. Published online 2013 Sep 2. doi: 10.1371/journal.pone.0072899
PMCID:
PMC3759429
AbstractArticlePDF–120K
20.
Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans
Mingfeng Zhang, Fengju Song, Liming Liang, Hongmei Nan, Jiangwen Zhang, Hongliang Liu, Li-E. Wang, Qingyi Wei, Jeffrey E. Lee, Christopher I. Amos, Peter Kraft, Abrar A. Qureshi, Jiali Han
Hum Mol Genet. 2013 Jul 15; 22(14): 2948–2959. Published online 2013 Apr 1. doi: 10.1093/hmg/ddt142
PMCID:
PMC3690971
AbstractArticlePDF–208K

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