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Select item 109424671.

Mitochondrial Raf1 Regulates Glutamine Catabolism

Ronald L. Shanderson, Ian D. Ferguson, Zurab Siprashvili, Luca Ducoli, Albert M. Li, Weili Miao, Suhas Srinivasan, Mary Grace Velasco, Yang Li, Jiangbin Ye, Paul A. Khavari

Version 1. bioRxiv. Preprint. 2024 Mar 9. doi: 10.1101/2024.03.08.581297

PMCID:: PMC10942467

Abstract Article PDF–6.5M

Select item 92703192.

The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism

Vincent Michaud, Eulalie Lasseaux, David J. Green, Dave T. Gerrard, Claudio Plaisant, UK Biobank Eye and Vision Consortium, Tomas Fitzgerald, Ewan Birney, Benoît Arveiler, Graeme C. Black, Panagiotis I. Sergouniotis

Nat Commun. 2022; 13: 3939. Published online 2022 Jul 8. doi: 10.1038/s41467-022-31392-3

PMCID:: PMC9270319

Abstract Article PDF–957K

Select item 91089843.

Identification and characterization of two novel noncoding tyrosinase (TYR) gene variants leading to oculocutaneous albinism type 1

Chaoyi Li, Qian Chen, Junjiao Wu, Jie Ren, Mengfei Zhang, Huakun Wang, Jinchen Li, Yu Tang

J Biol Chem. 2022 May; 298(5): 101922. Published online 2022 Apr 10. doi: 10.1016/j.jbc.2022.101922

PMCID:: PMC9108984

Abstract Article PDF–2.0M

Select item 89504074.

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

Abstract Article PDF–2.4M

Select item 88064335.

Identification of TYR, TYRP1, DCT and LARP7 as related biomarkers and immune infiltration characteristics of vitiligo via comprehensive strategies

Jiayu Zhang, Rongguo Yu, Xiaoyu Guo, Yuanxia Zou, Sixuan Chen, Kai Zhou, Yi Chen, YongRong Li, Su Gao, Yifei Wu

Bioengineered. 2021; 12(1): 2214–2227. Published online 2021 Jun 9. doi: 10.1080/21655979.2021.1933743

PMCID:: PMC8806433

Abstract Article PDF–3.5M

Select item 87220506.

Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism 1B in an Indian family along with intellectual disability associated with chromosomal copy number variations

Somprakash Dhangar, Purvi Panchal, Jagdeeshwar Ghatanatti, Jitendra Suralkar, Anjali Shah, Babu Rao Vundinti

BMC Med Genomics. 2022; 15: 2. Published online 2022 Jan 3. doi: 10.1186/s12920-021-01152-1

Correction in:: BMC Med Genomics. 2022; 15: 11.

PMCID:: PMC8722050

Abstract Article PDF–2.1M

Select item 82318447.

Targeting Melanoma-Initiating Cells by Caffeine: In Silico and In Vitro Approaches

Claudio Tabolacci, Martina Cordella, Stefania Rossi, Marialaura Bonaccio, Adriana Eramo, Carlo Mischiati, Simone Beninati, Licia Iacoviello, Antonio Facchiano, Francesco Facchiano

Molecules. 2021 Jun; 26(12): 3619. Published online 2021 Jun 13. doi: 10.3390/molecules26123619

PMCID:: PMC8231844

Abstract Article PDF–6.9M

Select item 80669978.

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

Abstract Article PDF–4.7M

Select item 79263079.

EDEM3 Domains Cooperate to Perform Its Overall Cell Functioning

Georgiana Manica, Simona Ghenea, Cristian V. A. Munteanu, Eliza C. Martin, Cristian Butnaru, Marius Surleac, Gabriela N. Chiritoiu, Petruta R. Alexandru, Andrei-Jose Petrescu, Stefana M. Petrescu

Int J Mol Sci. 2021 Feb; 22(4): 2172. Published online 2021 Feb 22. doi: 10.3390/ijms22042172

PMCID:: PMC7926307

Abstract Article PDF–4.2M

Select item 751096910.

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

Abstract Article PDF–887K

Select item 748577711.

Association between brown eye colour in rs12913832:GG individuals and SNPs in TYR, TYRP1, and SLC24A4

Olivia S. Meyer, Maja M. B. Lunn, Sara L. Garcia, Anne B. Kjærbye, Niels Morling, Claus Børsting, Jeppe D. Andersen

PLoS One. 2020; 15(9): e0239131. Published online 2020 Sep 11. doi: 10.1371/journal.pone.0239131

PMCID:: PMC7485777

Abstract Article PDF–804K

Select item 743285912.

UP256 Inhibits Hyperpigmentation by Tyrosinase Expression/Dendrite Formation via Rho-Dependent Signaling and by Primary Cilium Formation in Melanocytes

Min Cheol Kang, Jae-Wook Lee, Taek Hwan Lee, Lalita Subedi, Hussain M. Wahedi, Seon-Gil Do, Eunju Shin, Eun-Yi Moon, Sun Yeou Kim

Int J Mol Sci. 2020 Aug; 21(15): 5341. Published online 2020 Jul 28. doi: 10.3390/ijms21155341

PMCID:: PMC7432859

Abstract Article PDF–2.1M

Select item 704507613.

Tyrosinase gene mutations in the Chinese Han population with OCA1

NING LIU, XIANG DONG KONG, HUI RONG SHI, QING HUA WU, MIAO JIANG

Genet Res (Camb) 2014; 96: e14. Published online 2014 Nov 12. doi: 10.1017/S0016672314000160

PMCID:: PMC7045076

Abstract Article PDF–123K

Select item 677799214.

The TYRP1-mediated protection of human tyrosinase activity does not involve stable interactions of tyrosinase domains.

Monika B. Dolinska, Paul T. Wingfield, Kenneth L. Young, II, Yuri V. Sergeev

Pigment Cell Melanoma Res. Author manuscript; available in PMC 2020 Nov 1.

Published in final edited form as: Pigment Cell Melanoma Res. 2019 Nov; 32(6): 753–765. Published online 2019 Jun 3. doi: 10.1111/pcmr.12791

PMCID:: PMC6777992

Abstract Article PDF–2.2M

Select item 650411915.

Oncogenic functions of protein kinase D2 and D3 in regulating multiple cancer‐related pathways in breast cancer

Yan Liu, Jian Li, Zhifang Ma, Jun Zhang, Yuzhi Wang, Zhenghong Yu, Xue Lin, Zhi Xu, Qian Su, Li An, Yehui Zhou, Xinxing Ma, Yiwen Yang, Feifei Wang, Qingfei Chen, Yunchao Zhang, Jilinlin Wang, Huilin Zheng, Aihua Shi, Shuang Yu, Jingzhong Zhang, Weiyong Zhao, Liming Chen

Cancer Med. 2019 Feb; 8(2): 729–741. Published online 2019 Jan 16. doi: 10.1002/cam4.1938

PMCID:: PMC6504119

Abstract Article PDF–1.3M

Select item 620813316.

Interaction between G-coupled Protein Receptor 143 and tyrosinase: Implications for understanding Ocular Albinism Type-1

Elisabetta De Filippo, Anke C. Schiedel, Prashiela Manga

J Invest Dermatol. Author manuscript; available in PMC 2018 Oct 31.

Published in final edited form as: J Invest Dermatol. 2017 Feb; 137(2): 457–465. Published online 2016 Oct 6. doi: 10.1016/j.jid.2016.09.022

PMCID:: PMC6208133

Abstract Article PDF–822K

Select item 598832617.

Membrane-associated human tyrosinase is an enzymatically active monomeric glycoprotein

Nicole J. Kus, Monika B. Dolinska, Kenneth L. Young, II, Emilios K. Dimitriadis, Paul T. Wingfield, Yuri V. Sergeev

PLoS One. 2018; 13(6): e0198247. Published online 2018 Jun 5. doi: 10.1371/journal.pone.0198247

PMCID:: PMC5988326

Abstract Article PDF–5.2M

Select item 556869418.

Oculocutaneous Albinism Type 1: Link between Mutations, Tyrosinase Conformational Stability, and Enzymatic Activity

Monika B. Dolinska, Nicole Kus, Katie Farney, Paul T. Wingfield, Brian P. Brooks, Yuri V. Sergeev

Pigment Cell Melanoma Res. Author manuscript; available in PMC 2017 Aug 23.

Published in final edited form as: Pigment Cell Melanoma Res. 2017 Jan; 30(1): 41–52. doi: 10.1111/pcmr.12546

PMCID:: PMC5568694

Abstract Article PDF–1.7M

Select item 555356819.

A role for mitochondrial translation in promotion of viability in K-Ras mutant cells

Timothy D. Martin, Danielle R. Cook, Mei Yuk Choi, Mamie Z. Li, Kevin M. Haigis, Stephen J. Elledge

Cell Rep. Author manuscript; available in PMC 2017 Aug 11.

Published in final edited form as: Cell Rep. 2017 Jul 11; 20(2): 427–438. doi: 10.1016/j.celrep.2017.06.061

PMCID:: PMC5553568

Abstract Article PDF–1.8M

Select item 549362820.

Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B)

Chelsea S. Norman, Luke O’Gorman, Jane Gibson, Reuben J. Pengelly, Diana Baralle, J. Arjuna Ratnayaka, Helen Griffiths, Matthew Rose-Zerilli, Megan Ranger, David Bunyan, Helena Lee, Rhiannon Page, Tutte Newall, Fatima Shawkat, Christopher Mattocks, Daniel Ward, Sarah Ennis, Jay E. Self

Sci Rep. 2017; 7: 4415. Published online 2017 Jun 30. doi: 10.1038/s41598-017-04401-5