Canales C - Search Results

1

Hyperexcitability and translational phenotypes in a preclinical model of SYNGAP1 mutations.

Fenton TA, Haouchine OY, Hallam EL, Smith EM, Jackson KC, Rahbarian D, Canales C, Adhikari A, Nord AS, Ben-Shalom R, Silverman JL. Fenton TA, et al. Among authors: canales c. bioRxiv [Preprint]. 2023 Jul 26:2023.07.24.550093. doi: 10.1101/2023.07.24.550093. bioRxiv. 2023. PMID: 37546838 Free PMC article. Preprint.

2

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.

3

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

4

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.

5

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.

6

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

7

Parallel functional testing identifies enhancers active in early postnatal mouse brain.

Lambert JT, Su-Feher L, Cichewicz K, Warren TL, Zdilar I, Wang Y, Lim KJ, Haigh JL, Morse SJ, Canales CP, Stradleigh TW, Castillo Palacios E, Haghani V, Moss SD, Parolini H, Quintero D, Shrestha D, Vogt D, Byrne LC, Nord AS. Lambert JT, et al. Among authors: canales cp. Elife. 2021 Oct 4;10:e69479. doi: 10.7554/eLife.69479. Elife. 2021. PMID: 34605404 Free PMC article.

8

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.

9

Deletion of a non-canonical regulatory sequence causes loss of Scn1a expression and epileptic phenotypes in mice.

Haigh JL, Adhikari A, Copping NA, Stradleigh T, Wade AA, Catta-Preta R, Su-Feher L, Zdilar I, Morse S, Fenton TA, Nguyen A, Quintero D, Agezew S, Sramek M, Kreun EJ, Carter J, Gompers A, Lambert JT, Canales CP, Pennacchio LA, Visel A, Dickel DE, Silverman JL, Nord AS. Haigh JL, et al. Genome Med. 2021 Apr 26;13(1):69. doi: 10.1186/s13073-021-00884-0. Genome Med. 2021. PMID: 33910599 Free PMC article.

10

Hyperexcitability and translational phenotypes in a preclinical model of SYNGAP1 mutations.

Silverman JL, Fenton T, Haouchine O, Hallam E, Smith E, Jackson K, Rahbarian D, Canales C, Adhikari A, Nord A, Ben-Shalom R. Silverman JL, et al. Among authors: canales c. Res Sq [Preprint]. 2023 Sep 13:rs.3.rs-3246655. doi: 10.21203/rs.3.rs-3246655/v1. Res Sq. 2023. PMID: 37790402 Free PMC article. Preprint.

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