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Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies.
Andreeva TV, Tyazhelova TV, Rykalina VN, Gusev FE, Goltsov AY, Zolotareva OI, Aliseichik MP, Borodina TA, Grigorenko AP, Reshetov DA, Ginter EK, Amelina SS, Zinchenko RA, Rogaev EI. Andreeva TV, et al. Among authors: borodina ta. Sci Rep. 2016 May 24;6:26440. doi: 10.1038/srep26440. Sci Rep. 2016. PMID: 27216912 Free PMC article.
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions.
Tschernoster N, Erger F, Kohl S, Reusch B, Wenzel A, Walsh S, Thiele H, Becker C, Franitza M, Bartram MP, Kömhoff M, Schumacher L, Kukat C, Borodina T, Quedenau C, Nürnberg P, Rinschen MM, Driller JH, Pedersen BP, Schlingmann KP, Hüttel B, Bockenhauer D, Beck B, Altmüller J. Tschernoster N, et al. Among authors: borodina t. Genome Med. 2023 Aug 23;15(1):62. doi: 10.1186/s13073-023-01215-1. Genome Med. 2023. PMID: 37612755 Free PMC article.
Mutant phosphodiesterase 3A protects the kidney from hypertension-induced damage.
Sholokh A, Walter S, Markó L, McMurray BJ, Sunaga-Franze DY, Xu M, Zühlke K, Russwurm M, Bartolomaeus TUP, Langanki R, Qadri F, Heuser A, Patzak A, Forslund SK, Bähring S, Borodina T, Persson PB, Maass PG, Bader M, Klussmann E. Sholokh A, et al. Among authors: borodina t. Kidney Int. 2023 Aug;104(2):388-393. doi: 10.1016/j.kint.2023.04.026. Epub 2023 May 25. Kidney Int. 2023. PMID: 37244472 No abstract available.
92 results