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TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, Lewis LR, Cherukuri P, Maskeri B, Hansen NF, Mullikin JC, Blakesley RW, Bouffard GG; NISC Comparative Sequencing Program; Gyapay G, Rieger S, Tönshoff B, Kern I, Soliman NA, Neuhaus TJ, Swoboda KJ, Kayserili H, Gallagher TE, Lewis RA, Bergmann C, Otto EA, Saunier S, Scambler PJ, Beales PL, Gleeson JG, Maher ER, Attié-Bitach T, Dollfus H, Johnson CA, Green ED, Gibbs RA, Hildebrandt F, Pierce EA, Katsanis N. Davis EE, et al. Nat Genet. 2011 Mar;43(3):189-96. doi: 10.1038/ng.756. Epub 2011 Jan 23. Nat Genet. 2011. PMID: 21258341 Free PMC article.
Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).
Hartley JL, Zachos NC, Dawood B, Donowitz M, Forman J, Pollitt RJ, Morgan NV, Tee L, Gissen P, Kahr WH, Knisely AS, Watson S, Chitayat D, Booth IW, Protheroe S, Murphy S, de Vries E, Kelly DA, Maher ER. Hartley JL, et al. Gastroenterology. 2010 Jun;138(7):2388-98, 2398.e1-2. doi: 10.1053/j.gastro.2010.02.010. Epub 2010 Feb 20. Gastroenterology. 2010. PMID: 20176027 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. 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.