Canales CP - Search Results

1

Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome.

Goh ES, Perez IC, Canales CP, Ruiz P, Agatep R, Yoon G, Chitayat D, Dror Y, Shago M, Goobie S, Sgro M, Walz K, Mendoza-Londono R. Goh ES, et al. Among authors: canales cp. Am J Med Genet A. 2012 Jul;158A(7):1579-88. doi: 10.1002/ajmg.a.35399. Epub 2012 May 25. Am J Med Genet A. 2012. PMID: 22639462

2

RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome.

Carmona-Mora P, Canales CP, Cao L, Perez IC, Srivastava AK, Young JI, Walz K. Carmona-Mora P, et al. Among authors: canales cp. PLoS One. 2012;7(9):e45155. doi: 10.1371/journal.pone.0045155. Epub 2012 Sep 18. PLoS One. 2012. PMID: 23028815 Free PMC article.

3

Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome.

Molina J, Carmona-Mora P, Chrast J, Krall PM, Canales CP, Lupski JR, Reymond A, Walz K. Molina J, et al. Among authors: canales cp. Hum Mol Genet. 2008 Aug 15;17(16):2486-95. doi: 10.1093/hmg/ddn148. Epub 2008 May 10. Hum Mol Genet. 2008. PMID: 18469339

4

Copy number variation and susceptibility to complex traits.

Canales CP, Walz K. Canales CP, et al. EMBO Mol Med. 2011 Jan;3(1):1-4. doi: 10.1002/emmm.201000111. Epub 2010 Dec 23. EMBO Mol Med. 2011. PMID: 21204264 Free PMC article.

5

Characterization of a Trpc6 Transgenic Mouse Associated with Early Onset FSGS.

Canales CP, Krall P, Kairath P, Perez IC, Fragoso MA, Carmona-Mora P, Ruiz P, Reiser J, Young JI, Walz K. Canales CP, et al. Br J Med Med Res. 2015;5(10):1198-2012. doi: 10.9734/bjmmr/2015/12493. Epub 2014 Oct 30. Br J Med Med Res. 2015. PMID: 34012910 Free PMC article.

6

Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome.

Carmona-Mora P, Encina CA, Canales CP, Cao L, Molina J, Kairath P, Young JI, Walz K. Carmona-Mora P, et al. Among authors: canales cp. BMC Mol Biol. 2010 Aug 25;11:63. doi: 10.1186/1471-2199-11-63. BMC Mol Biol. 2010. PMID: 20738874 Free PMC article.

7

Podocyte-specific overexpression of wild type or mutant trpc6 in mice is sufficient to cause glomerular disease.

Krall P, Canales CP, Kairath P, Carmona-Mora P, Molina J, Carpio JD, Ruiz P, Mezzano SA, Li J, Wei C, Reiser J, Young JI, Walz K. Krall P, et al. Among authors: canales cp. PLoS One. 2010 Sep 20;5(9):e12859. doi: 10.1371/journal.pone.0012859. PLoS One. 2010. PMID: 20877463 Free PMC article.

8

The nuclear localization pattern and interaction partners of GTF2IRD1 demonstrate a role in chromatin regulation.

Carmona-Mora P, Widagdo J, Tomasetig F, Canales CP, Cha Y, Lee W, Alshawaf A, Dottori M, Whan RM, Hardeman EC, Palmer SJ. Carmona-Mora P, et al. Among authors: canales cp. Hum Genet. 2015 Oct;134(10):1099-115. doi: 10.1007/s00439-015-1591-0. Epub 2015 Aug 15. Hum Genet. 2015. PMID: 26275350

9

RNA-Seq analysis of Gtf2ird1 knockout epidermal tissue provides potential insights into molecular mechanisms underpinning Williams-Beuren syndrome.

Corley SM, Canales CP, Carmona-Mora P, Mendoza-Reinosa V, Beverdam A, Hardeman EC, Wilkins MR, Palmer SJ. Corley SM, et al. Among authors: canales cp. BMC Genomics. 2016 Jun 13;17:450. doi: 10.1186/s12864-016-2801-4. BMC Genomics. 2016. PMID: 27295951 Free PMC article.

10

The role of GTF2IRD1 in the auditory pathology of Williams-Beuren Syndrome.

Canales CP, Wong AC, Gunning PW, Housley GD, Hardeman EC, Palmer SJ. Canales CP, et al. Eur J Hum Genet. 2015 Jun;23(6):774-80. doi: 10.1038/ejhg.2014.188. Epub 2014 Sep 24. Eur J Hum Genet. 2015. PMID: 25248400 Free PMC article.

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