PMC Links for Gene (Select 387700) - PMC

Select item 29040021.

Alterations of the 5′Untranslated Region of SLC16A12 Lead to Age-Related Cataract

Jurian Zuercher, John Neidhardt, Istvan Magyar, Stephan Labs, Anthony T. Moore, Felix C. Tanner, Naushin Waseem, Daniel F. Schorderet, Francis L. Munier, Shomi Bhattacharya, Wolfgang Berger, Barbara Kloeckener-Gruissem

Invest Ophthalmol Vis Sci. 2010 Jul; 51(7): 3354–3361. doi: 10.1167/iovs.10-5193

PMCID:: PMC2904002

Abstract Article PDF–268K

Select item 24272142.

Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining Juvenile Cataract with Microcornea and Renal Glucosuria

Barbara Kloeckener-Gruissem, Kristof Vandekerckhove, Gudrun Nürnberg, John Neidhardt, Christina Zeitz, Peter Nürnberg, Isaak Schipper, Wolfgang Berger

Am J Hum Genet. 2008 Mar 3; 82(3): 772–779. Published online 2008 Feb 29. doi: 10.1016/j.ajhg.2007.12.013

PMCID:: PMC2427214

Abstract Article PDF–1.0M

Select item 48498313.

Mutation in the Monocarboxylate Transporter 12 Gene Affects Guanidinoacetate Excretion but Does Not Cause Glucosuria

Nasser Dhayat, Alexandre Simonin, Manuel Anderegg, Ganesh Pathare, Benjamin P Lüscher, Christine Deisl, Giuseppe Albano, David Mordasini, Matthias A. Hediger, Daniel V. Surbek, Bruno Vogt, Jörn Oliver Sass, Barbara Kloeckener-Gruissem, Daniel G. Fuster

J Am Soc Nephrol. 2016 May; 27(5): 1426–1436. Published online 2015 Sep 16. doi: 10.1681/ASN.2015040411

PMCID:: PMC4849831

Abstract Article

Select item 37233084.

The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter

Jeannette Abplanalp, Endre Laczko, Nancy J. Philp, John Neidhardt, Jurian Zuercher, Philipp Braun, Daniel F. Schorderet, Francis L. Munier, François Verrey, Wolfgang Berger, Simone M.R. Camargo, Barbara Kloeckener-Gruissem

Hum Mol Genet. 2013 Aug 15; 22(16): 3218–3226. Published online 2013 Apr 10. doi: 10.1093/hmg/ddt175

PMCID:: PMC3723308

Abstract Article PDF–325K

Select item 31760215.

Juvenile Cataract-Associated Mutation of Solute Carrier SLC16A12 Impairs Trafficking of the Protein to the Plasma Membrane

John J. Castorino, Shannon M. Gallagher-Colombo, Alex V. Levin, Paul G. FitzGerald, Jessica Polishook, Barbara Kloeckener-Gruissem, Eric Ostertag, Nancy J. Philp

Invest Ophthalmol Vis Sci. 2011 Aug; 52(9): 6774–6784. Published online 2011 Aug 29. doi: 10.1167/iovs.10-6579

PMCID:: PMC3176021

Abstract Article PDF–3.5M

Select item 63350996.

Blood-Brain Barrier: From Physiology to Disease and Back

Melanie D. Sweeney, Zhen Zhao, Axel Montagne, Amy R. Nelson, Berislav V. Zlokovic

Physiol Rev. 2019 Jan 1; 99(1): 21–78. Published online 2018 Oct 3. doi: 10.1152/physrev.00050.2017

PMCID:: PMC6335099

Abstract Article

Select item 40502507.

Differential effects of Tat proteins derived from HIV-1 subtypes B and recombinant CRF02_AG on human brain microvascular endothelial cells: implications for blood–brain barrier dysfunction

Shawna M Woollard, Biju Bhargavan, Fang Yu, Georgette D Kanmogne

J Cereb Blood Flow Metab. 2014 Jun; 34(6): 1047–1059. Published online 2014 Mar 26. doi: 10.1038/jcbfm.2014.54

PMCID:: PMC4050250

Abstract Article PDF–932K

Select item 13802258.

A Scan of Chromosome 10 Identifies a Novel Locus Showing Strong Association with Late-Onset Alzheimer Disease

Andrew Grupe, Yonghong Li, Charles Rowland, Petra Nowotny, Anthony L. Hinrichs, Scott Smemo, John S. K. Kauwe, Taylor J. Maxwell, Sara Cherny, Lisa Doil, Kristina Tacey, Ryan van Luchene, Amanda Myers, Fabienne Wavrant-De Vrièze, Mona Kaleem, Paul Hollingworth, Luke Jehu, Catherine Foy, Nicola Archer, Gillian Hamilton, Peter Holmans, Chris M. Morris, Joseph Catanese, John Sninsky, Thomas J. White, John Powell, John Hardy, Michael O’Donovan, Simon Lovestone, Lesley Jones, John C. Morris, Leon Thal, Michael Owen, Julie Williams, Alison Goate

Am J Hum Genet. 2006 Jan; 78(1): 78–88. Published online 2005 Nov 15. doi: 10.1086/498851

PMCID:: PMC1380225

Abstract Article PDF–329K

Select item 71699839.

A reference map of the human binary protein interactome

Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood

Nature. Author manuscript; available in PMC 2020 Oct 8.

Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x

PMCID:: PMC7169983

Abstract Article PDF–5.4M

Select item 13924110.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

Select item 317805911.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

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