PMC Links for Gene (Select 298185) - PMC

Select item 42949421.

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1

Anne M Slavotinek, Sergio E Baranzini, Denny Schanze, Cassandre Labelle-Dumais, Kieran M Short, Ryan Chao, Mani Yahyavi, Emilia K Bijlsma, Catherine Chu, Stacey Musone, Ashleigh Wheatley, Pui-Yan Kwok, Sandra Marles, Jean-Pierre Fryns, A Murat Maga, Mohamed G Hassan, Douglas B Gould, Lohith Madireddy, Chumei Li, Timothy C Cox, Ian Smyth, Albert E Chudley, Martin Zenker

J Med Genet. Author manuscript; available in PMC 2015 Jan 15.

Published in final edited form as: J Med Genet. 2011 Jun; 48(6): 375–382. Published online 2011 Apr 20. doi: 10.1136/jmg.2011.089631

PMCID:: PMC4294942

Abstract Article PDF–1.3M

Select item 35941802.

Novel Frem1-Related Mouse Phenotypes and Evidence of Genetic Interactions with Gata4 and Slit3

Tyler F. Beck, Oleg A. Shchelochkov, Zhiyin Yu, Bum Jun Kim, Andrés Hernández-García, Hitisha P. Zaveri, Colin Bishop, Paul A. Overbeek, David W. Stockton, Monica J. Justice, Daryl A. Scott

PLoS One. 2013; 8(3): e58830. Published online 2013 Mar 11. doi: 10.1371/journal.pone.0058830

PMCID:: PMC3594180

Abstract Article PDF–6.3M

Select item 35619153.

Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice

Tyler F. Beck, Danielle Veenma, Oleg A. Shchelochkov, Zhiyin Yu, Bum Jun Kim, Hitisha P. Zaveri, Yolande van Bever, Sunju Choi, Hannie Douben, Terry K. Bertin, Pragna I. Patel, Brendan Lee, Dick Tibboel, Annelies de Klein, David W. Stockton, Monica J. Justice, Daryl A. Scott

Hum Mol Genet. 2013 Mar 1; 22(5): 1026–1038. Published online 2012 Dec 5. doi: 10.1093/hmg/dds507

Correction in:: Hum Mol Genet. 2020 Mar 15; 29(6): 1054.

PMCID:: PMC3561915

Abstract Article PDF–1.0M

Select item 31695414.

Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice

Lisenka E. L. M. Vissers, Timothy C. Cox, A. Murat Maga, Kieran M. Short, Fenny Wiradjaja, Irene M. Janssen, Fernanda Jehee, Debora Bertola, Jia Liu, Garima Yagnik, Kiyotoshi Sekiguchi, Daiji Kiyozumi, Hans van Bokhoven, Carlo Marcelis, Michael L. Cunningham, Peter J. Anderson, Simeon A. Boyadjiev, Maria Rita Passos-Bueno, Joris A. Veltman, Ian Smyth, Michael F. Buckley, Tony Roscioli

PLoS Genet. 2011 Sep; 7(9): e1002278. Published online 2011 Sep 8. doi: 10.1371/journal.pgen.1002278

PMCID:: PMC3169541

Abstract Article PDF–2.2M

Select item 5187945.

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

Select item 15676846.

Breakdown of the reciprocal stabilization of QBRICK/Frem1, Fras1, and Frem2 at the basement membrane provokes Fraser syndrome-like defects

Daiji Kiyozumi, Nagisa Sugimoto, Kiyotoshi Sekiguchi

Proc Natl Acad Sci U S A. 2006 Aug 8; 103(32): 11981–11986. Published online 2006 Jul 31. doi: 10.1073/pnas.0601011103

PMCID:: PMC1567684

Abstract Article PDF–2.3M

Select item 25290347.

Transcriptome-based systematic identification of extracellular matrix proteins

Ri-ichiroh Manabe, Ko Tsutsui, Tomiko Yamada, Mina Kimura, Itsuko Nakano, Chisei Shimono, Noriko Sanzen, Yutaka Furutani, Tomohiko Fukuda, Yasuko Oguri, Keiko Shimamoto, Daiji Kiyozumi, Yuya Sato, Yoshikazu Sado, Haruki Senoo, Shohei Yamashina, Shiro Fukuda, Jun Kawai, Nobuo Sugiura, Koji Kimata, Yoshihide Hayashizaki, Kiyotoshi Sekiguchi

Proc Natl Acad Sci U S A. 2008 Sep 2; 105(35): 12849–12854. Published online 2008 Aug 29. doi: 10.1073/pnas.0803640105

PMCID:: PMC2529034

Abstract Article PDF–1.1M

Select item 31780598.

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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