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CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.
Merveille AC, Davis EE, Becker-Heck A, Legendre M, Amirav I, Bataille G, Belmont J, Beydon N, Billen F, Clément A, Clercx C, Coste A, Crosbie R, de Blic J, Deleuze S, Duquesnoy P, Escalier D, Escudier E, Fliegauf M, Horvath J, Hill K, Jorissen M, Just J, Kispert A, Lathrop M, Loges NT, Marthin JK, Momozawa Y, Montantin G, Nielsen KG, Olbrich H, Papon JF, Rayet I, Roger G, Schmidts M, Tenreiro H, Towbin JA, Zelenika D, Zentgraf H, Georges M, Lequarré AS, Katsanis N, Omran H, Amselem S. Merveille AC, et al. Among authors: towbin ja. Nat Genet. 2011 Jan;43(1):72-8. doi: 10.1038/ng.726. Epub 2010 Dec 5. Nat Genet. 2011. PMID: 21131972 Free PMC article.
The molecular basis of vascular disorders.
Towbin JA, Casey B, Belmont J. Towbin JA, et al. Am J Hum Genet. 1999 Mar;64(3):678-84. doi: 10.1086/302303. Am J Hum Genet. 1999. PMID: 10053000 Free PMC article. Review. No abstract available.
Molecular genetics of heterotaxy syndromes.
Belmont JW, Mohapatra B, Towbin JA, Ware SM. Belmont JW, et al. Among authors: towbin ja. Curr Opin Cardiol. 2004 May;19(3):216-20. doi: 10.1097/00001573-200405000-00005. Curr Opin Cardiol. 2004. PMID: 15096953 Review.
Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly.
Roessler E, Ouspenskaia MV, Karkera JD, Vélez JI, Kantipong A, Lacbawan F, Bowers P, Belmont JW, Towbin JA, Goldmuntz E, Feldman B, Muenke M. Roessler E, et al. Among authors: towbin ja. Am J Hum Genet. 2008 Jul;83(1):18-29. doi: 10.1016/j.ajhg.2008.05.012. Epub 2008 Jun 5. Am J Hum Genet. 2008. PMID: 18538293 Free PMC article.
Dilation of the aortic root in mitochondrial disease patients.
Brunetti-Pierri N, Pignatelli R, Fouladi N, Towbin JA, Belmont JW, Craigen WJ, Wong LJ, Jefferies JL, Scaglia F. Brunetti-Pierri N, et al. Among authors: towbin ja. Mol Genet Metab. 2011 Jun;103(2):167-70. doi: 10.1016/j.ymgme.2011.02.007. Epub 2011 Feb 18. Mol Genet Metab. 2011. PMID: 21406331
537 results