Associated Papers
Functional study of two siblings with isolated growth hormone deficiency and pituitary MR imaging abnormalities caused by a novel HESX1 variant.
Lei N et al.
Endocrine, 2025
Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.
Vishnopolska SA et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Inherited Eye Diseases with Retinal Manifestations through the Eyes of Homeobox Genes.
Markitantova Y et al.
International Journal of Molecular Sciences, 2020
Congenital Hypopituitarism During the Neonatal Period: Epidemiology, Pathogenesis, Therapeutic Options, and Outcome.
Bosch I Ara L et al.
Frontiers in Pediatrics, 2020
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations.
Madeira JL et al.
Clinical Endocrinology, 2017
MAPK pathway control of stem cell proliferation and differentiation in the embryonic pituitary provides insights into the pathogenesis of papillary craniopharyngioma.
Haston S et al.
Development (cambridge, England), 2017
Pituitary Hypoplasia.
Gangat M et al.
Endocrinology and Metabolism Clinics of North America, 2017
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.
Fang Q et al.
Endocrine Reviews, 2016
HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype.
Fang Q et al.
Clinical Endocrinology, 2016
SOX2 regulates the hypothalamic-pituitary axis at multiple levels.
Jayakody SA et al.
The Journal of Clinical Investigation, 2012
HESX1- and TCF3-mediated repression of Wnt/β-catenin targets is required for normal development of the anterior forebrain.
Andoniadou CL et al.
Development (cambridge, England), 2011
Novel mutations associated with combined pituitary hormone deficiency.
Romero CJ et al.
Journal of Molecular Endocrinology, 2011
Genetic regulation of pituitary gland development in human and mouse.
Kelberman D et al.
Endocrine Reviews, 2009
A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency.
Diaczok D et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Heterozygous mutation of HESX1 causing hypopituitarism and multiple anatomical malformations without features of septo-optic dysplasia.
Corneli G et al.
Journal of Endocrinological Investigation, 2008
DNMT1 interacts with the developmental transcriptional repressor HESX1.
Sajedi E et al.
Biochimica Et Biophysica Acta, 2008
Septo-optic dysplasia - novel insights into the aetiology.
Kelberman D et al.
Hormone Research, 2008
Hypothalamic and pituitary development: novel insights into the aetiology.
Kelberman D et al.
European Journal of Endocrinology, 2007
HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.
McNay DE et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism.
Kelberman D et al.
Annals of Medicine, 2006
Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter?
Dattani MT
Clinical Endocrinology, 2005
Pituitary hormone deficiencies due to transcription factor gene alterations.
Reynaud R et al.
Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 2004
Novel insights into the aetiology and pathogenesis of hypopituitarism.
Dattani MT
Hormone Research, 2004
A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction.
Carvalho LR et al.
The Journal of Clinical Investigation, 2003
Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism.
Sajedi E et al.
Disease Models & Mechanisms, 0