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Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives
M Ritelli, M Venturini, V Cinquina, N Chiarelli… - Orphanet Journal of …, 2020 - Springer
Abstract Background The Ehlers-Danlos syndromes (EDS) are rare connective tissue
disorders consisting of 13 subtypes with overlap** features including joint hypermobility …
disorders consisting of 13 subtypes with overlap** features including joint hypermobility …
TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility
A Engwerda, EKSM Leenders, B Frentz… - European Journal of …, 2021 - nature.com
Deletions that include the gene TAB2 and TAB2 loss-of-function variants have previously
been associated with congenital heart defects and cardiomyopathy. However, other …
been associated with congenital heart defects and cardiomyopathy. However, other …
Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy
H Liu, AG Giguet‐Valard, T Simonet… - Human …, 2020 - Wiley Online Library
Herein, we report the screening of a large panel of genes in a series of 80 fetuses with
congenital heart defects (CHDs) and/or heterotaxy and no cytogenetic anomalies. There …
congenital heart defects (CHDs) and/or heterotaxy and no cytogenetic anomalies. There …
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease
Numerous genetic studies have established a role for rare genomic variants in Congenital
Heart Disease (CHD) at the copy number variation (CNV) and de novo variant (DNV) level …
Heart Disease (CHD) at the copy number variation (CNV) and de novo variant (DNV) level …
TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay
J Hanson, D Brezavar, S Hughes… - Clinical …, 2022 - Wiley Online Library
Congenital heart defects (CHD) are the most commonly occurring birth defect and can occur
in isolation or with additional clinical features comprising a genetic syndrome. Autosomal …
in isolation or with additional clinical features comprising a genetic syndrome. Autosomal …
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder
S Morlino, M Castori, C Dordoni, V Cinquina… - European Journal of …, 2018 - nature.com
Heterozygous variants in MAP3K7, encoding the transforming growth factor-β-activated
kinase 1 (TAK1), are associated with the ultrarare cardiospondylocarpofacial syndrome …
kinase 1 (TAK1), are associated with the ultrarare cardiospondylocarpofacial syndrome …
A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family
J Chen, H Yuan, K **e, X Wang, L Tan, Y Zou… - BMC Cardiovascular …, 2020 - Springer
Background TAB2 is an activator of MAP 3 K7/TAK1, which is required for the IL-1 induced
signal pathway. Microdeletions encompassing TAB2 have been detected in various patients …
signal pathway. Microdeletions encompassing TAB2 have been detected in various patients …
Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family
TR Caulfield, JE Richter Jr, EE Brown… - … Genetics & Genomic …, 2018 - Wiley Online Library
Background Haploinsufficiency of TAB 2 is known to cause congenital heart defects and
cardiomyopathy due to its important roles in cardiovascular tissue, both during development …
cardiomyopathy due to its important roles in cardiovascular tissue, both during development …
Growth restriction and congenital heart disease caused by a novel TAB2 mutation: A case report
Q Deng, X Wang, J Gao, X **a… - Experimental and …, 2023 - spandidos-publications.com
Congenital heart disease (CHD) is a malformation present from birth caused by the
abnormal development of the heart and large blood vessels during the prenatal …
abnormal development of the heart and large blood vessels during the prenatal …
[HTML][HTML] Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c. 737-7A> G variant alters the TGFβ-mediated α-SMA …
Transforming growth factor beta-activated kinase 1 (TAK1) is a highly conserved kinase
protein encoded by MAP3K7, and activated by multiple extracellular stimuli, growth factors …
protein encoded by MAP3K7, and activated by multiple extracellular stimuli, growth factors …