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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. McGregor L, et al. Among authors: scambler pj. Nat Genet. 2003 Jun;34(2):203-8. doi: 10.1038/ng1142. Nat Genet. 2003. PMID: 12766769
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. Jadeja S, et al. Among authors: scambler pj. Nat Genet. 2005 May;37(5):520-5. doi: 10.1038/ng1549. Epub 2005 Apr 17. Nat Genet. 2005. PMID: 15838507
Expression of Fraser syndrome genes in normal and polycystic murine kidneys.
Kerecuk L, Long DA, Ali Z, Anders C, Kolatsi-Joannou M, Scambler PJ, Woolf AS. Kerecuk L, et al. Among authors: scambler pj. Pediatr Nephrol. 2012 Jun;27(6):991-8. doi: 10.1007/s00467-012-2100-5. Epub 2011 Oct 13. Pediatr Nephrol. 2012. PMID: 21993971 Free PMC article.
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. van Haelst MM, et al. Among authors: scambler pj. Am J Med Genet A. 2008 Sep 1;146A(17):2252-7. doi: 10.1002/ajmg.a.32440. Am J Med Genet A. 2008. PMID: 18671281
233 results