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Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2).
Boucher C, Sandford R. Boucher C, et al. Eur J Hum Genet. 2004 May;12(5):347-54. doi: 10.1038/sj.ejhg.5201162. Eur J Hum Genet. 2004. PMID: 14872199 Review.
Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.
Whibley AC, Plagnol V, Tarpey PS, Abidi F, Fullston T, Choma MK, Boucher CA, Shepherd L, Willatt L, Parkin G, Smith R, Futreal PA, Shaw M, Boyle J, Licata A, Skinner C, Stevenson RE, Turner G, Field M, Hackett A, Schwartz CE, Gecz J, Stratton MR, Raymond FL. Whibley AC, et al. Among authors: boucher ca. Am J Hum Genet. 2010 Aug 13;87(2):173-88. doi: 10.1016/j.ajhg.2010.06.017. Epub 2010 Jul 22. Am J Hum Genet. 2010. PMID: 20655035 Free PMC article.
Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location.
Boucher CA, Sargent CA, Ogata T, Affara NA. Boucher CA, et al. J Med Genet. 2001 Sep;38(9):591-8. doi: 10.1136/jmg.38.9.591. J Med Genet. 2001. PMID: 11546827 Free PMC article.
The critical region of overlap defining the AZFa male infertility interval of proximal Yq contains three transcribed sequences.
Sargent CA, Boucher CA, Kirsch S, Brown G, Weiss B, Trundley A, Burgoyne P, Saut N, Durand C, Levy N, Terriou P, Hargreave T, Cooke H, Mitchell M, Rappold GA, Affara NA. Sargent CA, et al. Among authors: boucher ca. J Med Genet. 1999 Sep;36(9):670-7. J Med Genet. 1999. PMID: 10507722 Free PMC article.
More than colocalizing with polycystin-1, polycystin-L is in the centrosome.
Bui-Xuan EF, Li Q, Chen XZ, Boucher CA, Sandford R, Zhou J, Basora N. Bui-Xuan EF, et al. Among authors: boucher ca. Am J Physiol Renal Physiol. 2006 Aug;291(2):F395-406. doi: 10.1152/ajprenal.00282.2005. Epub 2006 Apr 11. Am J Physiol Renal Physiol. 2006. PMID: 16609150
Receptor protein tyrosine phosphatases are novel components of a polycystin complex.
Boucher CA, Ward HH, Case RL, Thurston KS, Li X, Needham A, Romero E, Hyink D, Qamar S, Roitbak T, Powell S, Ward C, Wilson PD, Wandinger-Ness A, Sandford RN. Boucher CA, et al. Biochim Biophys Acta. 2011 Oct;1812(10):1225-38. doi: 10.1016/j.bbadis.2010.11.006. Epub 2010 Nov 29. Biochim Biophys Acta. 2011. PMID: 21126580 Free PMC article.
The first extracellular PKD1 domain of polycystin-1 interacts with the first Ig domain of RPTPσ, while the polycystin-1 C-terminus of polycystin-1 interacts with the regulatory D2 phosphatase domain of RPTPγ. ...The polycystin-1 C-terminus is an in vitro substrate o …
The first extracellular PKD1 domain of polycystin-1 interacts with the first Ig domain of RPTPσ, while the polycystin-1 C-terminus of …
Molecular pathogenesis of autosomal dominant polycystic kidney disease.
Yoder BK, Mulroy S, Eustace H, Boucher C, Sandford R. Yoder BK, et al. Among authors: boucher c. Expert Rev Mol Med. 2006 Jan 17;8(2):1-22. doi: 10.1017/S1462399406010362. Expert Rev Mol Med. 2006. PMID: 16515728 Review.
A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat.
Boucher CA, King SK, Carey N, Krahe R, Winchester CL, Rahman S, Creavin T, Meghji P, Bailey ME, Chartier FL, et al. Boucher CA, et al. Hum Mol Genet. 1995 Oct;4(10):1919-25. doi: 10.1093/hmg/4.10.1919. Hum Mol Genet. 1995. PMID: 8595416
A novel poly(A)-binding protein gene (PABPC5) maps to an X-specific subinterval in the Xq21.3/Yp11.2 homology block of the human sex chromosomes.
Blanco P, Sargent CA, Boucher CA, Howell G, Ross M, Affara NA. Blanco P, et al. Among authors: boucher ca. Genomics. 2001 May 15;74(1):1-11. doi: 10.1006/geno.2001.6530. Genomics. 2001. PMID: 11374897
Characterization of the human Xq21.3/Yp11 homology block and conservation of organization in primates.
Sargent CA, Boucher CA, Blanco P, Chalmers IJ, Highet L, Hall N, Ross N, Crow T, Affara NA. Sargent CA, et al. Among authors: boucher ca. Genomics. 2001 Apr 1;73(1):77-85. doi: 10.1006/geno.2000.6491. Genomics. 2001. PMID: 11352568
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