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Items: 1 to 20 of 125

1.

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.

3.

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
4.

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
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.

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
7.

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
8.

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.

9.

Ultrastructural localization of Fras1 in the sublamina densa of embryonic epithelial basement membranes.

Dalezios Y, Papasozomenos B, Petrou P, Chalepakis G.

Arch Dermatol Res. 2007 Sep;299(7):337-43. Epub 2007 Jun 19.

PMID:
17576586
10.

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
11.

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
12.

A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1.

Takamiya K, Kostourou V, Adams S, Jadeja S, Chalepakis G, Scambler PJ, Huganir RL, Adams RH.

Nat Genet. 2004 Feb;36(2):172-7. Epub 2004 Jan 18.

PMID:
14730302
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.

AMACO is a component of the basement membrane-associated Fraser complex.

Richardson RJ, Gebauer JM, Zhang JL, Kobbe B, Keene DR, Karlsen KR, Richetti S, Wohl AP, Sengle G, Neiss WF, Paulsson M, Hammerschmidt M, Wagener R.

J Invest Dermatol. 2014 May;134(5):1313-22. doi: 10.1038/jid.2013.492. Epub 2013 Nov 14.

15.

Supramodular nature of GRIP1 revealed by the structure of its PDZ12 tandem in complex with the carboxyl tail of Fras1.

Long J, Wei Z, Feng W, Yu C, Zhao YX, Zhang M.

J Mol Biol. 2008 Feb 1;375(5):1457-68. Epub 2007 Dec 4.

PMID:
18155042
16.

Basement membrane assembly of the integrin α8β1 ligand nephronectin requires Fraser syndrome-associated proteins.

Kiyozumi D, Takeichi M, Nakano I, Sato Y, Fukuda T, Sekiguchi K.

J Cell Biol. 2012 May 28;197(5):677-89. doi: 10.1083/jcb.201203065. Epub 2012 May 21.

17.

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.

18.

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
19.

Basement membrane distortions impair lung lobation and capillary organization in the mouse model for fraser syndrome.

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

J Biol Chem. 2005 Mar 18;280(11):10350-6. Epub 2004 Dec 28.

20.

Mutations in GRIP1 cause Fraser syndrome.

Vogel MJ, van Zon P, Brueton L, Gijzen M, van Tuil MC, Cox P, Schanze D, Kariminejad A, Ghaderi-Sohi S, Blair E, Zenker M, Scambler PJ, Ploos van Amstel HK, van Haelst MM.

J Med Genet. 2012 May;49(5):303-6. doi: 10.1136/jmedgenet-2011-100590. Epub 2012 Apr 17.

PMID:
22510445

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