Associated Papers
A novel TBX19 gene mutation in patients with isolated ACTH deficiency from distinct families with a common geographical origin.
Charnay T et al.
Frontiers in Endocrinology, 2022
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
Evaluation of growth and puberty in a child with a novel TBX19 gene mutation and review of the literature.
Abali ZY et al.
Hormones (athens, Greece), 2019
A Novel TBX19 Gene Mutation in a Case of Congenital Isolated Adrenocorticotropic Hormone Deficiency Presenting with Recurrent Respiratory Tract Infections.
Akcan N et al.
Frontiers in Endocrinology, 2017
Edgotype: a fundamental link between genotype and phenotype.
Sahni N et al.
Current Opinion in Genetics & Development, 2013
Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations.
Couture C et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Protein interactions in human genetic diseases.
Schuster-Böckler B et al.
Genome Biology, 2008
The TPIT gene mutation M86R associated with isolated adrenocorticotropin deficiency interferes with protein: protein interactions.
Vallette-Kasic S et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Molecular mechanisms of pituitary differentiation and regulation: implications for hormone deficiencies and hormone resistance syndromes.
Drouin J
Frontiers of Hormone Research, 2006
Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations.
Vallette-Kasic S et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
[Tpit mutations reveal a new model of pituitary differentiation and account for isolated ACTH deficiency].
Pulichino AM et al.
Medecine Sciences : M/s, 2004
TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency.
Metherell LA et al.
European Journal of Endocrinology, 2004
Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency.
Pulichino AM et al.
Genes & Development, 2003
Genetic defects in the development and function of the anterior pituitary gland.
Cushman LJ et al.
Annals of Medicine, 2002