The role of TBX18 in congenital heart defects in humans not confirmed
Author:
Funder
Junior Scientific Masterclass, University Medical Center Groningen
ZonMw
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s41431-022-01242-3.pdf
Reference16 articles.
1. Vivante A, Kleppa MJ, Schulz J, Kohl S, Sharma A, Chen J, et al. Mutations in TBX18 cause dominant urinary tract malformations via transcriptional dysregulation of ureter development. Am J Hum Genet. 2015;97:291–301.
2. Ovejero D, Garcia-Giralt N, Martínez-Gil N, Rabionet R, Balcells S, Grinberg D, et al. Clinical description and genetic analysis of a novel familial skeletal dysplasia characterized by high bone mass and lucent bone lesions. Bone. 2022;161:116450.
3. Papaioannou VE. The T-box gene family: emerging roles in development, stem cells and cancer. Development. 2014;141:3819–33.
4. Greulich F, Rudat C, Kispert A. Mechanisms of T-box gene function in the developing heart. Cardiovasc Res. 2011;91:212–22.
5. Wiese C, Grieskamp T, Airik R, Mommersteeg MTM, Gardiwal A, de Gier-de Vries C, et al. Formation of the sinus node head and differentiation of sinus node myocardium are independently regulated by Tbx18 and Tbx3. Circ Res. 2009;104:388–97.
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