PMC Links for Protein (Select 1624763215) - PMC

Select item 62516121.

A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos

Qian Yu, Bingying Lin, Shangqian Xie, Song Gao, Wei Li, Yizhi Liu, Hongwei Wang, Danping Huang, Zhi Xie

Hum Mol Genet. 2018 Jul 1; 27(13): 2357–2366. Published online 2018 Apr 24. doi: 10.1093/hmg/ddy144

PMCID:: PMC6251612

Select item 54048422.

Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2

Myoung Keun Lee, John R. Shaffer, Elizabeth J. Leslie, Ekaterina Orlova, Jenna C. Carlson, Eleanor Feingold, Mary L. Marazita, Seth M. Weinberg

PLoS One. 2017; 12(4): e0176566. Published online 2017 Apr 25. doi: 10.1371/journal.pone.0176566

PMCID:: PMC5404842

Abstract Article PDF–5.6M

Select item 41479863.

Mild Recessive Mutations in Six Fraser Syndrome–Related Genes Cause Isolated Congenital Anomalies of the Kidney and Urinary Tract

Stefan Kohl, Daw-Yang Hwang, Gabriel C. Dworschak, Alina C. Hilger, Pawaree Saisawat, Asaf Vivante, Natasa Stajic, Radovan Bogdanovic, Heiko M. Reutter, Elijah O. Kehinde, Velibor Tasic, Friedhelm Hildebrandt

J Am Soc Nephrol. 2014 Sep; 25(9): 1917–1922. Published online 2014 Apr 3. doi: 10.1681/ASN.2013101103

PMCID:: PMC4147986

Abstract Article

Select item 28441714.

TILRR, a Novel IL-1RI Co-receptor, Potentiates MyD88 Recruitment to Control Ras-dependent Amplification of NF-κB

Xiao Zhang, Freya Shephard, Hong B. Kim, Ian R. Palmer, Selina McHarg, Gregory J. S. Fowler, Luke A. J. O'Neill, Endre Kiss-Toth, Eva E. Qwarnstrom

J Biol Chem. 2010 Mar 5; 285(10): 7222–7232. Published online 2009 Nov 25. doi: 10.1074/jbc.M109.073429

Correction in:: J Biol Chem. 2010 Jun 4; 285(23): 18122.

PMCID:: PMC2844171

Abstract Article PDF–2.8M

Select item 27715335.

FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome

Anas M. Alazami, Ranad Shaheen, Fatema Alzahrani, Katie Snape, Anand Saggar, Bernd Brinkmann, Prashant Bavi, Lihadh I. Al-Gazali, Fowzan S. Alkuraya

Am J Hum Genet. 2009 Sep 11; 85(3): 414–418. doi: 10.1016/j.ajhg.2009.08.010

Correction in:: Am J Hum Genet. 2009 Nov 13; 85(5): 756.

PMCID:: PMC2771533

Abstract Article PDF–518K

Select item 5187946.

The extracellular matrix gene Frem1 is essential for the normal adhesion of the embryonic epidermis

Ian Smyth, Xin Du, Martin S. Taylor, Monica J. Justice, Bruce Beutler, Ian J. Jackson

Proc Natl Acad Sci U S A. 2004 Sep 14; 101(37): 13560–13565. Published online 2004 Sep 2. doi: 10.1073/pnas.0402760101

PMCID:: PMC518794

Abstract Article PDF–779K

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