The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations

TAK1-TABs Complex: A Central Signalosome in Inflammatory Responses

(2021) Yan-Ran Xu et al.   Frontiers in Immunology

TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility

(2021) Aafke Engwerda et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Expanding the phenotypic spectrum of cardiospondylocarpofacial syndrome: From a detailed clinical and radiological observation of a boy with a novel missense variant in MAP3K7

(2021) Mari Minatogawa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay

(2021) Jennifer Hanson et al.   CLINICAL GENETICS

Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy

(2020) Lucia Micale et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Nosology and classification of genetic skeletal disorders: 2019 revision

(2019) Geert R. Mortier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cardiovascular disease in Noonan syndrome

(2018) Mary Ella Pierpont et al.   CURRENT OPINION IN PEDIATRICS

A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder

(2018) Silvia Morlino et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Expansion of the clinical spectrum of frontometaphyseal dysplasia 2 caused by the recurrent mutation p.Pro485Leu in MAP3K7

(2018) Alice Costantini et al.   European Journal of Medical Genetics

Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family

(2018) Thomas R. Caulfield et al.   Molecular Genetics & Genomic Medicine

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report

(2018) Anwar Baban et al.   BMC Medical Genetics

The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function

(2018) Martina Proietti Onori et al.   HUMAN MUTATION

TAK1 mediates convergence of cellular signals for death and survival

(2018) Sabreena Aashaq et al.   APOPTOSIS

Heterozygous Mutations in MAP3K7 , Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome

(2016) Carine Le Goff et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

(2016) Emma M. Wade et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Frontometaphyseal dysplasia and keloid formation withoutFLNAmutations

(2015) Hanneke Basart et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

TAK1 is activated by TGF-β signaling and controls axonal growth during brain development

(2014) Jingwen Yu et al.   Journal of Molecular Cell Biology

TAK1, more than just innate immunity

(2012) Liang Dai et al.   IUBMB LIFE

Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)-A distinct syndrome?

(2010) Sérgio B. Sousa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Noonan Syndrome and Related Disorders: A Review of Clinical Features and Mutations in Genes of the RAS/MAPK Pathway

(2009) Alexander A.L. Jorge et al.   Hormone Research in Paediatrics