PMC Links for Protein (Select 7019335) - PMC

Select item 67450281.

Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12–q13.3

Xueshan Xiao, Wenmin Sun, Jiamin Ouyang, Shiqiang Li, Xiaoyun Jia, Zhiqun Tan, J. Fielding Hejtmancik, Qingjiong Zhang

Hum Genet. 2019; 138(10): 1077–1090. Published online 2019 Jun 6. doi: 10.1007/s00439-019-02039-z

PMCID:: PMC6745028

Select item 65272432.

Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice

Sarah J. Garnai, Michelle L. Brinkmeier, Ben Emery, Tomas S. Aleman, Louise C. Pyle, Biliana Veleva-Rotse, Robert A. Sisk, Frank W. Rozsa, Ayse Bilge Ozel, Jun Z. Li, Sayoko E. Moroi, Steven M. Archer, Cheng-mao Lin, Sarah Sheskey, Laurel Wiinikka-Buesser, James Eadie, Jill E. Urquhart, Graeme C.M. Black, Mohammad I. Othman, Michael Boehnke, Scot A. Sullivan, Gregory L. Skuta, Hemant S. Pawar, Alexander E. Katz, Laryssa A. Huryn, Robert B. Hufnagel, The Genomic Ascertainment Cohort, Sally A. Camper, Julia E. Richards, Lev Prasov

PLoS Genet. 2019 May; 15(5): e1008130. Published online 2019 May 2. doi: 10.1371/journal.pgen.1008130

PMCID:: PMC6527243

Abstract Article PDF–6.4M

Select item 63017213.

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders

Hongjian Qi, Lan Yu, Xueya Zhou, Julia Wynn, Haoquan Zhao, Yicheng Guo, Na Zhu, Alexander Kitaygorodsky, Rebecca Hernan, Gudrun Aspelund, Foong-Yen Lim, Timothy Crombleholme, Robert Cusick, Kenneth Azarow, Melissa E. Danko, Dai Chung, Brad W. Warner, George B. Mychaliska, Douglas Potoka, Amy J. Wagner, Mahmoud ElFiky, Jay M. Wilson, Debbie Nickerson, Michael Bamshad, Frances A. High, Mauro Longoni, Patricia K. Donahoe, Wendy K. Chung, Yufeng Shen

PLoS Genet. 2018 Dec; 14(12): e1007822. Published online 2018 Dec 10. doi: 10.1371/journal.pgen.1007822

PMCID:: PMC6301721

Abstract Article PDF–2.7M

Select item 27570904.

Identification of Myelin-gene Regulatory Factor as a Critical Transcriptional Regulator Required for CNS Myelination

Ben Emery, Dritan Agalliu, John D. Cahoy, Trent A. Watkins, Jason C. Dugas, Sara B. Mulinyawe, Adilijan Ibrahim, Keith L. Ligon, David H. Rowitch, Ben A. Barres

Cell. Author manuscript; available in PMC 2010 Jul 10.

Published in final edited form as: Cell. 2009 Jul 10; 138(1): 172–185. doi: 10.1016/j.cell.2009.04.031