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. Identification of a new gene mutated in Fraser syndromeand mouse myelencephalic blebs. Nat Genet. 2005 May;37(5):520-5.
Kohl S, Hwang DY, Dworschak GC, Hilger AC, Saisawat P, Vivante A, Stajic N,Bogdanovic R, Reutter HM, Kehinde EO, Tasic V, Hildebrandt F. Mild recessivemutations in six Fraser syndrome-related genes cause isolated congenitalanomalies of the kidney and urinary tract. J Am Soc Nephrol. 2014Sep;25(9):1917-22. doi: 10.1681/ASN.2013101103.
Pavlakis E, Chiotaki R, Chalepakis G. The role of Fras1/Frem proteins in thestructure and function of basement membrane. Int J Biochem Cell Biol. 2011Apr;43(4):487-95. doi: 10.1016/j.biocel.2010.12.016.
Petrou P, Makrygiannis AK, Chalepakis G. The Fras1/Frem family ofextracellular matrix proteins: structure, function, and association with Frasersyndrome and the mouse bleb phenotype. Connect Tissue Res. 2008;49(3):277-82.doi: 10.1080/03008200802148025.
Short K, Wiradjaja F, Smyth I. Let's stick together: the role of the Fras1 andFrem proteins in epidermal adhesion. IUBMB Life. 2007 Jul;59(7):427-35. Review.
van Haelst MM, Maiburg M, Baujat G, Jadeja S, Monti E, Bland E, Pearce K;Fraser Syndrome Collaboration Group, Hennekam RC, Scambler PJ. Molecular study of33 families with Fraser syndrome new data and mutation review. Am J Med Genet A. 2008 Sep 1;146A(17):2252-7. doi: 10.1002/ajmg.a.32440.
Contributor
MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register
: Vivi Li
You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
OK
Confirm
Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?