Loss-of-function mutation in GATA4 causes anomalies of human testicular development - Lourenço, Diana; Brauner, Raja; Rybczyńska, Magda; Nihoul-Fékété, Claire; McElreavey, Ken; Bashamboo, Anu (Proceedings of the National Academy of Sciences - PNAS, 2011)
Keywords: Adolescent; Amino Acid Sequence; Binding sites; Biochemistry; Biological Sciences; Cardiovascular disease; Cardiovascular diseases; Cell Nucleus - metabolism; Child; Child, Preschool; Congenital heart defects; Disorders of Sex Development - complications; Disorders of Sex Development - genetics; Disorders of Sex Development - metabolism; DNA; DNA Mutational Analysis; DNA-Binding Proteins - metabolism; Family Health; Female; Follow-Up Studies; GATA transcription factors; GATA4 Transcription Factor - genetics; GATA4 Transcription Factor - metabolism; Genealogy; Genes; Genetic mutation; Genetic vectors; Green Fluorescent Proteins - genetics; Green Fluorescent Proteins - metabolism; Heart Defects, Congenital - complications; heart diseases; HEK293 Cells; heterozygosity; Hormones; Human subjects; Humans; Infant, Newborn; loss-of-function mutation; Male; missense mutation; Molecular Sequence Data; mutants; Mutation; neonates; open reading frames; Pedigree; Protein Binding; protein-protein interactions; Proteins; Sequence Homology, Amino Acid; Steroidogenic Factor 1 - metabolism; Testes; Testicular development; Testis - abnormalities; Testis - metabolism; Transcription factors; Transcription Factors - metabolism; Urogenital system; Zinc; zinc finger motif