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Items: 1 to 20 of 98

1.

FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.

Alazami AM, Shaheen R, Alzahrani F, Snape K, Saggar A, Brinkmann B, Bavi P, Al-Gazali LI, Alkuraya FS.

Am J Hum Genet. 2009 Sep;85(3):414-8. doi: 10.1016/j.ajhg.2009.08.010. Erratum in: Am J Hum Genet. 2009 Nov;85(5):756.

2.

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

Smyth I, Du X, Taylor MS, Justice MJ, Beutler B, Jackson IJ.

Proc Natl Acad Sci U S A. 2004 Sep 14;101(37):13560-5. Epub 2004 Sep 2.

3.

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

Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M.

J Med Genet. 2011 Jun;48(6):375-82. doi: 10.1136/jmg.2011.089631. Epub 2011 Apr 20.

4.

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

Kiyozumi D, Sugimoto N, Sekiguchi K.

Proc Natl Acad Sci U S A. 2006 Aug 8;103(32):11981-6. Epub 2006 Jul 31.

5.

The Fras1/Frem family of extracellular matrix proteins: structure, function, and association with Fraser syndrome and the mouse bleb phenotype.

Petrou P, Makrygiannis AK, Chalepakis G.

Connect Tissue Res. 2008;49(3):277-82. doi: 10.1080/03008200802148025.

PMID:
18661360
6.

Molecular study of 33 families with Fraser syndrome new data and mutation review.

van Haelst MM, Maiburg M, Baujat G, Jadeja S, Monti E, Bland E, Pearce K; Fraser Syndrome Collaboration Group, Hennekam RC, Scambler PJ.

Am J Med Genet A. 2008 Sep 1;146A(17):2252-7. doi: 10.1002/ajmg.a.32440.

PMID:
18671281
7.

The role of Fras1/Frem proteins in the structure and function of basement membrane.

Pavlakis E, Chiotaki R, Chalepakis G.

Int J Biochem Cell Biol. 2011 Apr;43(4):487-95. doi: 10.1016/j.biocel.2010.12.016. Epub 2010 Dec 21. Review.

PMID:
21182980
8.

Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.

Nathanson J, Swarr DT, Singer A, Liu M, Chinn A, Jones W, Hurst J, Khalek N, Zackai E, Slavotinek A.

Am J Med Genet A. 2013 Mar;161A(3):473-8. doi: 10.1002/ajmg.a.35736. Epub 2013 Feb 8.

9.

Overlapping and divergent localization of Frem1 and Fras1 and its functional implications during mouse embryonic development.

Petrou P, Chiotaki R, Dalezios Y, Chalepakis G.

Exp Cell Res. 2007 Mar 10;313(5):910-20. Epub 2006 Dec 23.

PMID:
17240369
10.

Novel frem1-related mouse phenotypes and evidence of genetic interactions with gata4 and slit3.

Beck TF, Shchelochkov OA, Yu Z, Kim BJ, Hernández-García A, Zaveri HP, Bishop C, Overbeek PA, Stockton DW, Justice MJ, Scott DA.

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

11.

Basement membrane localization of Frem3 is independent of the Fras1/Frem1/Frem2 protein complex within the sublamina densa.

Petrou P, Pavlakis E, Dalezios Y, Chalepakis G.

Matrix Biol. 2007 Oct;26(8):652-8. Epub 2007 Jun 6.

PMID:
17596926
12.

Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs.

Jadeja S, Smyth I, Pitera JE, Taylor MS, van Haelst M, Bentley E, McGregor L, Hopkins J, Chalepakis G, Philip N, Perez Aytes A, Watt FM, Darling SM, Jackson I, Woolf AS, Scambler PJ.

Nat Genet. 2005 May;37(5):520-5. Epub 2005 Apr 17.

PMID:
15838507
13.

Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein.

McGregor L, Makela V, Darling SM, Vrontou S, Chalepakis G, Roberts C, Smart N, Rutland P, Prescott N, Hopkins J, Bentley E, Shaw A, Roberts E, Mueller R, Jadeja S, Philip N, Nelson J, Francannet C, Perez-Aytes A, Megarbane A, Kerr B, Wainwright B, Woolf AS, Winter RM, Scambler PJ.

Nat Genet. 2003 Jun;34(2):203-8.

PMID:
12766769
14.

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

Beck TF, Veenma D, Shchelochkov OA, Yu Z, Kim BJ, Zaveri HP, van Bever Y, Choi S, Douben H, Bertin TK, Patel PI, Lee B, Tibboel D, de Klein A, Stockton DW, Justice MJ, Scott DA.

Hum Mol Genet. 2013 Mar 1;22(5):1026-38. doi: 10.1093/hmg/dds507. Epub 2012 Dec 5.

15.

Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome.

Slavotinek A, Li C, Sherr EH, Chudley AE.

Am J Med Genet A. 2006 Sep 15;140(18):1909-14.

PMID:
16894541
16.

Spatiotemporal distribution of Fras1/Frem proteins during mouse embryonic development.

Chiotaki R, Petrou P, Giakoumaki E, Pavlakis E, Sitaru C, Chalepakis G.

Gene Expr Patterns. 2007 Feb;7(4):381-8. Epub 2006 Dec 16.

PMID:
17251066
17.

Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.

Kohl S, Hwang DY, Dworschak GC, Hilger AC, Saisawat P, Vivante A, Stajic N, Bogdanovic R, Reutter HM, Kehinde EO, Tasic V, Hildebrandt F.

J Am Soc Nephrol. 2014 Sep;25(9):1917-22. doi: 10.1681/ASN.2013101103. Epub 2014 Apr 3.

19.

An autosomal recessive syndrome of nasal anomalies associated with renal and anorectal malformations.

Al-Gazali LI, Bakir M, Hamud OA, Gerami S.

Clin Dysmorphol. 2002 Jan;11(1):33-8.

PMID:
11822703
20.

Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.

Weston MD, Eudy JD, Fujita S, Yao S, Usami S, Cremers C, Greenberg J, Ramesar R, Martini A, Moller C, Smith RJ, Sumegi J, Kimberling WJ.

Am J Hum Genet. 2000 Apr;66(4):1199-210. Epub 2000 Mar 22. Erratum in: Am J Hum Genet 2000 Jun;66(6):2020. Greenburg J [corrected to Greenberg J].

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