PMC Links for GEO Profiles (Select 131497068) - PMC

Select item 102003051.

Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophy

Michelle C do Rosario, Guillermo Rodriguez Bey, Bruce Nmezi, Fang Liu, Talia Oranburg, Ana S A Cohen, Keith A Coffman, Maya R Brown, Kirill Kiselyov, Quinten Waisfisz, Myrthe T Flohil, Shahyan Siddiqui, Jill A Rosenfeld, Alejandro Iglesias, Katta Mohan Girisha, Nicole I Wolf, Quasar Saleem Padiath, Anju Shukla

Brain. 2022 Dec; 145(12): 4202–4209. Published online 2022 Aug 12. doi: 10.1093/brain/awac295

PMCID:: PMC10200305

Abstract Article PDF–1006K

Select item 95308472.

Transmembrane 163 (TMEM163) protein interacts with specific mammalian SLC30 zinc efflux transporter family members

Adrian Escobar, Daniel J. Styrpejko, Saima Ali, Math P. Cuajungco

Biochem Biophys Rep. 2022 Dec; 32: 101362. Published online 2022 Oct 1. doi: 10.1016/j.bbrep.2022.101362

PMCID:: PMC9530847

Abstract Article PDF–4.8M

Select item 90315253.

Functional Study of TMEM163 Gene Variants Associated with Hypomyelination Leukodystrophy

Huifang Yan, Shuyan Yang, Yiming Hou, Saima Ali, Adrian Escobar, Kai Gao, Ruoyu Duan, Thomas Kubisiak, Junyu Wang, Yu Zhang, Jiangxi Xiao, Yuwu Jiang, Ting Zhang, Ye Wu, Margit Burmeister, Qiang Wang, Math P. Cuajungco, Jingmin Wang

Cells. 2022 Apr; 11(8): 1285. Published online 2022 Apr 9. doi: 10.3390/cells11081285

PMCID:: PMC9031525

Abstract Article PDF–3.5M

Select item 80202684.

A zinc transporter, transmembrane protein 163, is critical for the biogenesis of platelet dense granules

Yefeng Yuan, Teng Liu, Xiahe Huang, Yuanying Chen, Weilin Zhang, Ting Li, Lin Yang, Quan Chen, Yingchun Wang, Aihua Wei, Wei Li

Blood. 2021 Apr 1; 137(13): 1804–1817. Prepublished online 2021 Jan 29. doi: 10.1182/blood.2020007389

PMCID:: PMC8020268

Abstract Article

Select item 79267075.

Transmembrane 163 (TMEM163) Protein: A New Member of the Zinc Efflux Transporter Family

Daniel J. Styrpejko, Math P. Cuajungco

Biomedicines. 2021 Feb; 9(2): 220. Published online 2021 Feb 21. doi: 10.3390/biomedicines9020220

PMCID:: PMC7926707

Abstract Article PDF–1019K

Select item 73370986.

TMEM163 Regulates ATP-Gated P2X Receptor and Behavior

Elizabeth J. Salm, Patrick J. Dunn, Lili Shan, Miwako Yamasaki, Nathalie M. Malewicz, Taisuke Miyazaki, Joongkyu Park, Akio Sumioka, R. Richard L. Hamer, Wei-Wu He, Megumi Morimoto-Tomita, Robert H. LaMotte, Susumu Tomita

Cell Rep. Author manuscript; available in PMC 2020 Jul 6.

Published in final edited form as: Cell Rep. 2020 Jun 2; 31(9): 107704. doi: 10.1016/j.celrep.2020.107704

PMCID:: PMC7337098

Abstract Article PDF–1.5M

Select item 68643167.

Transmembrane 163 (TMEM163) protein effluxes zinc

Vanessa B. Sanchez, Saima Ali, Adrian Escobar, Math P. Cuajungco

Arch Biochem Biophys. Author manuscript; available in PMC 2020 Nov 30.

Published in final edited form as: Arch Biochem Biophys. 2019 Nov 30; 677: 108166. Published online 2019 Nov 4. doi: 10.1016/j.abb.2019.108166

PMCID:: PMC6864316

Abstract Article PDF–1.6M

Select item 57899068.

Genetics of the human face: Identification of large-effect single gene variants

Daniel J. M. Crouch, Bruce Winney, Willem P. Koppen, William J. Christmas, Katarzyna Hutnik, Tammy Day, Devendra Meena, Abdelhamid Boumertit, Pirro Hysi, Ayrun Nessa, Tim D. Spector, Josef Kittler, Walter F. Bodmer

Proc Natl Acad Sci U S A. 2018 Jan 23; 115(4): E676–E685. Published online 2018 Jan 4. doi: 10.1073/pnas.1708207114

PMCID:: PMC5789906

Abstract Article PDF–1.4M

Select item 55171529.

The Mucolipin-1 (TRPML1) Ion Channel, Transmembrane-163 (TMEM163) Protein, and Lysosomal Zinc Handling

Math P. Cuajungco, Kirill Kiselyov

Front Biosci (Landmark Ed) Author manuscript; available in PMC 2018 Mar 1.

Published in final edited form as: Front Biosci (Landmark Ed). 2017 Mar 1; 22: 1330–1343. Published online 2017 Mar 1. doi: 10.2741/4546

PMCID:: PMC5517152

Abstract Article PDF–672K

Select item 420526710.

Cellular Zinc Levels are Modulated by Trpml1-Tmem163 Interaction

Math P. Cuajungco, Luigi C. Basilio, Joshua Silva, Thomas Hart, Jonathan Tringali, Cheng-Chang Chen, Martin Biel, Christian Grimm

Traffic. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Traffic. 2014 Nov; 15(11): 1247–1265. Published online 2014 Sep 2. doi: 10.1111/tra.12205

PMCID:: PMC4205267

Abstract Article PDF–705K

Select item 414667311.

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson’s disease

Mike A Nalls, Nathan Pankratz, Christina M. Lill, Chuong B Do, Dena G. Hernandez, Mohamad Saad, Anita L. DeStefano, Eleanna Kara, Jose Bras, Manu Sharma, Claudia Schulte, Margaux F. Keller, Sampath Arepalli, Christopher Letson, Connor Edsall, Hreinn Stefansson, Xinmin Liu, Hannah Pliner, Joseph H. Lee, Rong Cheng, International Parkinson’s Disease Genomics Consortium (IPDGC), Parkinson’s Study Group (PSG) Parkinson’s Research: The Organized GENetics Initiative (PROGENI), 23andMe, Gene PD, NeuroGenetics Research Consortium (NGRC), Hussman Institute of Human Genomics (HIHG), The Ashkenazi Jewish Dataset Investigator, Cohorts for Health and Aging Research in Genetic Epidemiology (CHARGE), North American Brain Expression Consortium (NABEC), United Kingdom Brain Expression Consortium (UKBEC), Greek Parkinson’s Disease Consortium, Alzheimer Genetic Analysis Group, M. Arfan Ikram, John P.A. Ioannidis, Georgios M. Hadjigeorgiou, Joshua C. Bis, Maria Martinez, Joel S. Perlmutter, Alison Goate, Karen Marder, Brian Fiske, Margaret Sutherland, Georgia Xiromerisiou, Richard H. Myers, Lorraine N Clark, Kari Stefansson, John A. Hardy, Peter Heutink, Honglei Chen, Nicholas W. Wood, Henry Houlden, Haydeh Payami, Alexis Brice, William K Scott, Thomas Gasser, Lars Bertram, Nicholas Eriksson, Tatiana Foroud, Andrew B. Singleton

Nat Genet. Author manuscript; available in PMC 2015 Mar 1.

Published in final edited form as: Nat Genet. 2014 Sep; 46(9): 989–993. Published online 2014 Jul 27. doi: 10.1038/ng.3043

PMCID:: PMC4146673

Abstract Article PDF–487K

Select item 411210212.

Shared genetic susceptibility to ischemic stroke and coronary artery disease – a genome-wide analysis of common variants

Martin Dichgans, Rainer Malik, Inke R. König, Jonathan Rosand, Robert Clarke, Solveig Gretarsdottir, Gudmar Thorleifsson, Braxton D. Mitchell, Themistocles L. Assimes, Christopher Levi, Christopher J. O′Donnell, Myriam Fornage, Unnur Thorsteinsdottir, Bruce M. Psaty, Christian Hengstenberg, Sudha Seshadri, Jeanette Erdmann, Joshua C. Bis, Annette Peters, Giorgio B. Boncoraglio, Winfried März, James F. Meschia, Sekar Kathiresan, M. Arfan Ikram, Ruth McPherson, Kari Stefansson, Cathie Sudlow, Muredach P. Reilly, John R. Thompson, Pankaj Sharma, Jemma C. Hopewell, John C. Chambers, Hugh Watkins, Peter M. Rothwell, Robert Roberts, the METASTROKE Consortium, the CARDIoGRAM consortium, the C4D consortium, the International Stroke Genetics Consortium, Hugh S. Markus, Nilesh J. Samani, Martin Farrall, Heribert Schunkert

Stroke. Author manuscript; available in PMC 2015 Jan 1.

Published in final edited form as: Stroke. 2014 Jan; 45(1): 24–36. Published online 2013 Nov 21. doi: 10.1161/STROKEAHA.113.002707

PMCID:: PMC4112102

Abstract Article PDF–979K

Select item 358119313.

Genome-Wide Association Study for Type 2 Diabetes in Indians Identifies a New Susceptibility Locus at 2q21

Rubina Tabassum, Ganesh Chauhan, Om Prakash Dwivedi, Anubha Mahajan, Alok Jaiswal, Ismeet Kaur, Khushdeep Bandesh, Tejbir Singh, Benan John Mathai, Yogesh Pandey, Manickam Chidambaram, Amitabh Sharma, Sreenivas Chavali, Shantanu Sengupta, Lakshmi Ramakrishnan, Pradeep Venkatesh, Sanjay K. Aggarwal, Saurabh Ghosh, Dorairaj Prabhakaran, Reddy K. Srinath, Madhukar Saxena, Monisha Banerjee, Sandeep Mathur, Anil Bhansali, Viral N. Shah, Sri Venkata Madhu, Raman K. Marwaha, Analabha Basu, Vinod Scaria, Mark I. McCarthy, DIAGRAM, INDICO, Radha Venkatesan, Viswanathan Mohan, Nikhil Tandon, Dwaipayan Bharadwaj

Diabetes. 2013 Mar; 62(3): 977–986. Published online 2013 Feb 14. doi: 10.2337/db12-0406