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Slow-twitch skeletal muscle defects accompany cardiac dysfunction in transgenic mice with a mutation in the myosin regulatory light chain.
Kazmierczak K, Liang J, Yuan CC, Yadav S, Sitbon YH, Walz K, Ma W, Irving TC, Cheah JX, Gomes AV, Szczesna-Cordary D. Kazmierczak K, et al. Among authors: walz k. FASEB J. 2019 Mar;33(3):3152-3166. doi: 10.1096/fj.201801402R. Epub 2018 Oct 26. FASEB J. 2019. PMID: 30365366 Free PMC article.
In summary, even though R58Q expression was restricted to the heart of mice, functional similarities were clearly observed between the hearts and slow-twitch skeletal muscle, suggesting that MYL2 mutated models of hypertrophic cardiomyopathy may be useful research tools to study …
In summary, even though R58Q expression was restricted to the heart of mice, functional similarities were clearly observed between the heart …
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. Among authors: walz k. 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.
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.
Walz K, Cohen D, Neilsen PM, Foster J 2nd, Brancati F, Demir K, Fisher R, Moffat M, Verbeek NE, Bjørgo K, Lo Castro A, Curatolo P, Novelli G, Abad C, Lei C, Zhang L, Diaz-Horta O, Young JI, Callen DF, Tekin M. Walz K, et al. Hum Genet. 2015 Feb;134(2):181-90. doi: 10.1007/s00439-014-1509-2. Epub 2014 Nov 21. Hum Genet. 2015. PMID: 25413698 Clinical Trial.
ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice.
Diaz-Horta O, Abad C, Sennaroglu L, Foster J 2nd, DeSmidt A, Bademci G, Tokgoz-Yilmaz S, Duman D, Cengiz FB, Grati M, Fitoz S, Liu XZ, Farooq A, Imtiaz F, Currall BB, Morton CC, Nishita M, Minami Y, Lu Z, Walz K, Tekin M. Diaz-Horta O, et al. Among authors: walz k. Proc Natl Acad Sci U S A. 2016 May 24;113(21):5993-8. doi: 10.1073/pnas.1522512113. Epub 2016 May 9. Proc Natl Acad Sci U S A. 2016. PMID: 27162350 Free PMC article.
FOXF2 is required for cochlear development in humans and mice.
Bademci G, Abad C, Incesulu A, Elian F, Reyahi A, Diaz-Horta O, Cengiz FB, Sineni CJ, Seyhan S, Atli EI, Basmak H, Demir S, Nik AM, Footz T, Guo S, Duman D, Fitoz S, Gurkan H, Blanton SH, Walter MA, Carlsson P, Walz K, Tekin M. Bademci G, et al. Among authors: walz k. Hum Mol Genet. 2019 Apr 15;28(8):1286-1297. doi: 10.1093/hmg/ddy431. Hum Mol Genet. 2019. PMID: 30561639 Free PMC article.
Dysfunction of GRAP, encoding the GRB2-related adaptor protein, is linked to sensorineural hearing loss.
Li C, Bademci G, Subasioglu A, Diaz-Horta O, Zhu Y, Liu J, Mitchell TG, Abad C, Seyhan S, Duman D, Cengiz FB, Tokgoz-Yilmaz S, Blanton SH, Farooq A, Walz K, Zhai RG, Tekin M. Li C, et al. Among authors: walz k. Proc Natl Acad Sci U S A. 2019 Jan 22;116(4):1347-1352. doi: 10.1073/pnas.1810951116. Epub 2019 Jan 4. Proc Natl Acad Sci U S A. 2019. PMID: 30610177 Free PMC article.
105 results