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Results: 1 to 20 of 34

1.

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.

PMID:
23401257
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

A genetic polymorphism of FREM1 is associated with resistance against HIV infection in the Pumwani sex worker cohort.

Luo M, Sainsbury J, Tuff J, Lacap PA, Yuan XY, Hirbod T, Kimani J, Wachihi C, Ramdahin S, Bielawny T, Embree J, Broliden K, Ball TB, Plummer FA.

J Virol. 2012 Nov;86(21):11899-905. doi: 10.1128/JVI.01499-12. Epub 2012 Aug 22.

PMID:
22915813
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Evidence for additional FREM1 heterogeneity in Manitoba oculotrichoanal syndrome.

Mateo RK, Johnson R, Lehmann OJ.

Mol Vis. 2012;18:1301-11. Epub 2012 May 30.

PMID:
22690109
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Manitoba Oculotrichoanal Syndrome.

Li C, Slavotinek A, Chudley AE.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2008 Jul 09 [updated 2011 Oct 13].

5.

Partial monosomy 9p (9p22.2-->pter) and partial trisomy 18q (18q21.32-->qter) in a female infant with anorectal malformations.

Chen CP, Lin HM, Leung C, Lin SP, Su YN, Su JW, Chen YT, Wang W.

Genet Couns. 2012;23(2):201-6.

PMID:
22876578
[PubMed - indexed for MEDLINE]
6.

Distinct control of MyD88 adapter-dependent and Akt kinase-regulated responses by the interleukin (IL)-1RI co-receptor, TILRR.

Zhang X, Pino GM, Shephard F, Kiss-Toth E, Qwarnstrom EE.

J Biol Chem. 2012 Apr 6;287(15):12348-52. doi: 10.1074/jbc.C111.321711. Epub 2012 Jan 19.

PMID:
22262840
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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.

PMID:
21507892
[PubMed - indexed for MEDLINE]
8.

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.

PMID:
19732862
[PubMed - indexed for MEDLINE]
Free PMC Article
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
[PubMed - indexed for MEDLINE]
10.

Head blebs: a new mutation on chromosome 4 of the mouse.

Varnum DS, Fox SC.

J Hered. 1981 Jul-Aug;72(4):293.

PMID:
6793660
[PubMed - indexed for MEDLINE]
11.

Differential localization profile of Fras1/Frem proteins in epithelial basement membranes of newborn and adult mice.

Pavlakis E, Makrygiannis AK, Chiotaki R, Chalepakis G.

Histochem Cell Biol. 2008 Oct;130(4):785-93. doi: 10.1007/s00418-008-0453-4. Epub 2008 Jun 18.

PMID:
18563433
[PubMed - indexed for MEDLINE]
12.

Novel lethal mouse mutants produced in balancer chromosome screens.

Hentges KE, Nakamura H, Furuta Y, Yu Y, Thompson DM, O'Brien W, Bradley A, Justice MJ.

Gene Expr Patterns. 2006 Aug;6(6):653-65. Epub 2006 Feb 8.

PMID:
16466971
[PubMed - indexed for MEDLINE]
13.

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.

PMID:
23536828
[PubMed - indexed for MEDLINE]
Free PMC Article
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.

PMID:
23221805
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.

Vissers LE, Cox TC, Maga AM, Short KM, Wiradjaja F, Janssen IM, Jehee F, Bertola D, Liu J, Yagnik G, Sekiguchi K, Kiyozumi D, van Bokhoven H, Marcelis C, Cunningham ML, Anderson PJ, Boyadjiev SA, Passos-Bueno MR, Veltman JA, Smyth I, Buckley MF, Roscioli T.

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

PMID:
21931569
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

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
[PubMed - indexed for MEDLINE]
17.
18.

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
[PubMed - indexed for MEDLINE]
19.

Regulation of PDGFC signalling and extracellular matrix composition by FREM1 in mice.

Wiradjaja F, Cottle DL, Jones L, Smyth I.

Dis Model Mech. 2013 Nov;6(6):1426-33. doi: 10.1242/dmm.013748. Epub 2013 Aug 15.

PMID:
24046351
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

TILRR, a novel IL-1RI co-receptor, potentiates MyD88 recruitment to control Ras-dependent amplification of NF-kappaB.

Zhang X, Shephard F, Kim HB, Palmer IR, McHarg S, Fowler GJ, O'Neill LA, Kiss-Toth E, Qwarnstrom EE.

J Biol Chem. 2010 Mar 5;285(10):7222-32. doi: 10.1074/jbc.M109.073429. Epub 2009 Nov 25. Erratum in: J Biol Chem. 2010 Jun 4;285(23):18122.

PMID:
19940113
[PubMed - indexed for MEDLINE]
Free PMC Article

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