PMC Links for Nucleotide (Select 1519315605) - PMC

Select item 56388661.

Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance

Kashyap A. Patel, Jarno Kettunen, Markku Laakso, Alena Stančáková, Thomas W. Laver, Kevin Colclough, Matthew B. Johnson, Marc Abramowicz, Leif Groop, Päivi J. Miettinen, Maggie H. Shepherd, Sarah E. Flanagan, Sian Ellard, Nobuya Inagaki, Andrew T. Hattersley, Tiinamaija Tuomi, Miriam Cnop, Michael N. Weedon

Nat Commun. 2017; 8: 888. Published online 2017 Oct 12. doi: 10.1038/s41467-017-00895-9

PMCID:: PMC5638866

Article PDF–670K

Select item 48821902.

Widespread expansion of protein interaction capabilities by alternative splicing

Xinping Yang, Jasmin Coulombe-Huntington, Shuli Kang, Gloria M. Sheynkman, Tong Hao, Aaron Richardson, Song Sun, Fan Yang, Yun A. Shen, Ryan R. Murray, Kerstin Spirohn, Bridget E. Begg, Miquel Duran-Frigola, Andrew MacWilliams, Samuel J. Pevzner, Quan Zhong, Shelly A. Wanamaker, Stanley Tam, Lila Ghamsari, Nidhi Sahni, Song Yi, Maria D. Rodriguez, Dawit Balcha, Guihong Tan, Michael Costanzo, Brenda Andrews, Charles Boone, Xianghong J. Zhou, Kourosh Salehi-Ashtiani, Benoit Charloteaux, Alyce A. Chen, Michael A. Calderwood, Patrick Aloy, Frederick P. Roth, David E. Hill, Lilia M. Iakoucheva, Yu Xia, Marc Vidal

Cell. Author manuscript; available in PMC 2017 Feb 11.

Published in final edited form as: Cell. 2016 Feb 11; 164(4): 805–817. doi: 10.1016/j.cell.2016.01.029

PMCID:: PMC4882190

Article PDF–1.9M

Select item 47952033.

Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus

Francis H Sansbury, Birgül Kirel, Richard Caswell, Hana Lango Allen, Sarah E Flanagan, Andrew T Hattersley, Sian Ellard, Charles J Shaw-Smith

Eur J Hum Genet. 2015 Dec; 23(12): 1744–1748. Published online 2015 Aug 12. doi: 10.1038/ejhg.2015.161

Correction in:: Eur J Hum Genet. 2015 Dec; 23(12): 1750.

PMCID:: PMC4795203

Article PDF–431K

Select item 30427414.

Functional analysis of Rfx6 and mutant variants associated with neonatal diabetes

Esther J. Pearl, Zeina Jarikji, Marko E. Horb

Dev Biol. Author manuscript; available in PMC 2012 Mar 1.

Published in final edited form as: Dev Biol. 2011 Mar 1; 351(1): 135–145. Published online 2011 Jan 4. doi: 10.1016/j.ydbio.2010.12.043

PMCID:: PMC3042741

Article PDF–2.4M

Select item 28967185.

Rfx6 Directs Islet Formation and Insulin Production in Mice and Humans

Stuart B. Smith, Hui-Qi Qu, Nadine Taleb, Nina Kishimoto, David W. Scheel, Yang Lu, Ann-Marie Patch, Rosemary Grabs, Juehu Wang, Francis C. Lynn, Takeshi Miyatsuka, John Mitchell, Rina Seerke, Julie Désir, Serge Vanden Eijnden, Marc Abramowicz, Nadine Kacet, Jacques Weill, Marie-Éve Renard, Mattia Gentile, Inger Hansen, Ken Dewar, Andrew T. Hattersley, Rennian Wang, Maria E. Wilson, Jeffrey D. Johnson, Constantin Polychronakos, Michael S. German

Nature. Author manuscript; available in PMC 2010 Aug 11.

Published in final edited form as: Nature. 2010 Feb 11; 463(7282): 775–780. doi: 10.1038/nature08748

PMCID:: PMC2896718

Article PDF–933K

Select item 25333306.

Identification and characterization of novel human tissue-specific RFX transcription factors

Syed Aftab, Lucie Semenec, Jeffrey Shih-Chieh Chu, Nansheng Chen

BMC Evol Biol. 2008; 8: 226. Published online 2008 Aug 1. doi: 10.1186/1471-2148-8-226

PMCID:: PMC2533330

Article PDF–436K

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