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The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
Smith UM, Consugar M, Tee LJ, McKee BM, Maina EN, Whelan S, Morgan NV, Goranson E, Gissen P, Lilliquist S, Aligianis IA, Ward CJ, Pasha S, Punyashthiti R, Malik Sharif S, Batman PA, Bennett CP, Woods CG, McKeown C, Bucourt M, Miller CA, Cox P, Algazali L, Trembath RC, Torres VE, Attie-Bitach T, Kelly DA, Maher ER, Gattone VH 2nd, Harris PC, Johnson CA. Smith UM, et al. Among authors: consugar m. Nat Genet. 2006 Feb;38(2):191-6. doi: 10.1038/ng1713. Epub 2006 Jan 15. Nat Genet. 2006. PMID: 16415887
B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.
Hopp K, Heyer CM, Hommerding CJ, Henke SA, Sundsbak JL, Patel S, Patel P, Consugar MB, Czarnecki PG, Gliem TJ, Torres VE, Rossetti S, Harris PC. Hopp K, et al. Among authors: consugar mb. Hum Mol Genet. 2011 Jul 1;20(13):2524-34. doi: 10.1093/hmg/ddr151. Epub 2011 Apr 14. Hum Mol Genet. 2011. PMID: 21493627 Free PMC article.
Investigation of primary cilia in the pathogenesis of biliary atresia.
Hartley JL, O'Callaghan C, Rossetti S, Consugar M, Ward CJ, Kelly DA, Harris PC. Hartley JL, et al. Among authors: consugar m. J Pediatr Gastroenterol Nutr. 2011 Apr;52(4):485-8. doi: 10.1097/MPG.0b013e318200eb6f. J Pediatr Gastroenterol Nutr. 2011. PMID: 21407107 Free PMC article. No abstract available.
Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families.
Paul BM, Consugar MB, Ryan Lee M, Sundsbak JL, Heyer CM, Rossetti S, Kubly VJ, Hopp K, Torres VE, Coto E, Clementi M, Bogdanova N, de Almeida E, Bichet DG, Harris PC. Paul BM, et al. Among authors: consugar mb. Kidney Int. 2014 Feb;85(2):383-92. doi: 10.1038/ki.2013.227. Epub 2013 Jun 12. Kidney Int. 2014. PMID: 23760289 Free PMC article.
30 results