Associated Papers
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var
Early and severe tricuspid valve dysplasia in a fetus with cardiospondylocarpofacial syndrome due to a variant c.616T>G p.(Tyr206Asp) in MAP3K7.
Vasishta S et al.
Prenatal Diagnosis, 2023
Frontometaphyseal dysplasia 2 associated with thoracic deformity, and pulmonary arterial hypertension: a case report and review of literature.
Sun Z et al.
Archivos Argentinos De Pediatria, 2022
Generation of the induced pluripotent stem cell line UNIBSi017-A from an individual with cardiospondylocarpofacial syndrome and the MAP3K7 c.737-7A > G variant.
Calamaio S et al.
Stem Cell Research, 2022
Expanding the phenotypic spectrum of cardiospondylocarpofacial syndrome: From a detailed clinical and radiological observation of a boy with a novel missense variant in MAP3K7.
Minatogawa M et al.
American Journal of Medical Genetics. Part A, 2022
Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy.
Micale L et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2020
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder.
Morlino S et al.
European Journal of Human Genetics : Ejhg, 2018
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