Publications:

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In Vitro Reconstitution of the Melanin Pathway's Catalytic Activities Using Tyrosinase Nanoparticles.

International Journal Of Molecular Sciences

Osuna, Isabella I; Dolinska, Monika B MB; Sergeev, Yuri V YV

Publication Date: 2022-12-30

Variant appearance in text: TYR: R422Q

PubMed Link: 36614088

Variant Present in the following documents:

• Main text
• ijms-24-00639.pdf

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Genetic analyses of Vietnamese patients with oculocutaneous albinism.

Journal Of Clinical Laboratory Analysis

Thuong, Ma Thi Huyen MTH; Anh, Luong Thi Lan LTL; Nhung, Vu Phuong VP; Ngoc, Tran Thi Bich TTB; Lan, Hoang Thu HT; Phuong, Doan Kim DK; Ha, Nguyen Hai NH; Van Hai, Nong N; Ton, Nguyen Dang ND

Publication Date: 2022-09

Variant appearance in text: OCA1: R422Q

PubMed Link: 35870188

Variant Present in the following documents:

• Main text
• JCLA-36-e24625.pdf

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Characterization of Temperature-Dependent Kinetics of Oculocutaneous Albinism-Causing Mutants of Tyrosinase.

International Journal Of Molecular Sciences

Wachamo, Samuel A SA; Patel, Milan H MH; Varghese, Paul K PK; Dolinska, Monika B MB; Sergeev, Yuri V YV

Publication Date: 2021-07-21

Variant appearance in text: OCA1: R422Q

PubMed Link: 34360537

Variant Present in the following documents:

• Main text
• ijms-22-07771.pdf

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Aberrant visual population receptive fields in human albinism.

Journal Of Vision

Duwell, Ethan J EJ; Woertz, Erica N EN; Mathis, Jedidiah J; Carroll, Joseph J; DeYoe, Edgar A EA

Publication Date: 2021-05-03

Variant appearance in text: TYR: 1265G>A

PubMed Link: 34007988

Variant Present in the following documents:

• Main text

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Biophysical Compatibility of a Heterotrimeric Tyrosinase-TYRP1-TYRP2 Metalloenzyme Complex.

Frontiers In Pharmacology

Lavinda, Olga O; Manga, Prashiela P; Orlow, Seth J SJ; Cardozo, Timothy T

Publication Date: 2021

Variant appearance in text: TYR: R422Q

PubMed Link: 33995009

Variant Present in the following documents:

• Main text
• fphar-12-602206.pdf

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: TYR: R422Q

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: TYR: 1265G>A; Arg422Gln; rs61754393

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations.

Bmc Medical Genetics

Yang, Qi Q; Yi, Sheng S; Li, Mengting M; Xie, Bobo B; Luo, Jinsi J; Wang, Jin J; Rong, Xiuliang X; Zhang, Qinle Q; Qin, Zailong Z; Hang, Limei L; Feng, Shihan S; Fan, Xin X

Publication Date: 2019-06-13

Variant appearance in text: OCA1: 1265G>A

PubMed Link: 31196117

Variant Present in the following documents:

• Main text

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: TYR: 1265G>A; Arg422Gln

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis.

Pigment Cell & Melanoma Research

Zhong, Zilin Z; Gu, Li L; Zheng, Xiujie X; Ma, Nengjun N; Wu, Zehua Z; Duan, Juan J; Zhang, Jun J; Chen, Jianjun J

Publication Date: 2019-09

Variant appearance in text: OCA1: 1265G>A

PubMed Link: 31077556

Variant Present in the following documents:

• Main text
• PCMR-32-672.pdf

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Dynamic analysis of human tyrosinase intra-melanosomal domain and mutant variants to further understand oculocutaneous albinism type 1.

Journal Of Analytical & Pharmaceutical Research

Farney, S Katie SK; Dolinska, Monika B MB; Sergeev, Yuri V YV

Publication Date: 2018

Variant appearance in text: OCAIA: R422Q

PubMed Link: 30868138

Variant Present in the following documents:

• Main text

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One-year pilot study on the effects of nitisinone on melanin in patients with OCA-1B.

Jci Insight

Adams, David R DR; Menezes, Supriya S; Jauregui, Ramon R; Valivullah, Zaheer M ZM; Power, Bradley B; Abraham, Maria M; Jeffrey, Brett G BG; Garced, Angel A; Alur, Ramakrishna P RP; Cunningham, Denise D; Wiggs, Edythe E; Merideth, Melissa A MA; Chiang, Pei-Wen PW; Bernstein, Shanna S; Ito, Shosuke S; Wakamatsu, Kazumasa K; Jack, Rhona M RM; Introne, Wendy J WJ; Gahl, William A WA; Brooks, Brian P BP

Publication Date: 2019-01-24

Variant appearance in text: OCA1: R422Q

PubMed Link: 30674731

Variant Present in the following documents:

• jciinsight-4-124387.pdf

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: TYR: R422Q; rs61754393

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.

Cell & Bioscience

Gao, Jackson J; D'Souza, Leera L; Wetherby, Keith K; Antolik, Christian C; Reeves, Melissa M; Adams, David R DR; Tumminia, Santa S; Wang, Xinjing X

Publication Date: 2017

Variant appearance in text: TYR: 1265G>A

PubMed Link: 28451379

Variant Present in the following documents:

• Main text
• 13578_2017_Article_149.pdf

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Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity.

Pigment Cell & Melanoma Research

Dolinska, Monika B MB; Kus, Nicole J NJ; Farney, S Katie SK; Wingfield, Paul T PT; Brooks, Brian P BP; Sergeev, Yuri V YV

Publication Date: 2017-01

Variant appearance in text: OCA1: 1265G>A

PubMed Link: 27775880

Variant Present in the following documents:

• Main text

View BVdb publication page

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Large-Scale Recombinant Expression and Purification of Human Tyrosinase Suitable for Structural Studies.

Plos One

Lai, Xuelei X; Soler-Lopez, Montserrat M; Wichers, Harry J HJ; Dijkstra, Bauke W BW

Publication Date: 2016

Variant appearance in text: OCA1: R422Q

PubMed Link: 27551823

Variant Present in the following documents:

• Main text
• pone.0161697.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: OCA1A: R422Q

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: TYR: R422Q

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Albinism-causing mutations in recombinant human tyrosinase alter intrinsic enzymatic activity.

Plos One

Dolinska, Monika B MB; Kovaleva, Elena E; Backlund, Peter P; Wingfield, Paul T PT; Brooks, Brian P BP; Sergeev, Yuri V YV

Publication Date: 2014

Variant appearance in text: OCA1: R422Q

PubMed Link: 24392141

Variant Present in the following documents:

• Main text
• pone.0084494.pdf

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Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.

The Journal Of Investigative Dermatology

Hutton, Saunie M SM; Spritz, Richard A RA

Publication Date: 2008-10

Variant appearance in text: OCA1: 1265G>A

PubMed Link: 18463683

Variant Present in the following documents:

• Main text

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Temperature sensitive oculocutaneous albinism associated with missense changes in the tyrosinase gene.

The British Journal Of Ophthalmology

Wang, T T; Waters, C T CT; Jakins, T T; Yates, J R W JR; Trump, D D; Bradshaw, K K; Moore, A T AT

Publication Date: 2005-10

Variant appearance in text: OCA1: R422Q

PubMed Link: 16170149

Variant Present in the following documents:

• Main text

View BVdb publication page

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