Associated Papers
Decoding the mechanisms of cooperative DNA binding by the Paired-like homeodomain family.
Cain B et al.
Biorxiv : the Preprint Server for Biology, 2025
Clinical and genetic landscape of epilepsies with absence seizures and single-gene etiology.
Balestrini S et al.
Epilepsia, 2025
DNA binding analysis of rare variants in homeodomains reveals homeodomain specificity-determining residues.
Kock KH et al.
Nature Communications, 2024
Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.
Vishnopolska SA et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.
Jullien N et al.
Clinical Endocrinology, 2021
The Molecular Basis of Congenital Hypopituitarism and Related Disorders.
Gregory LC et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Development of the Pituitary Gland.
Alatzoglou KS et al.
Comprehensive Physiology, 2020
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
Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes.
Blum WF et al.
Ebiomedicine, 2018
Genetic causes of optic nerve hypoplasia.
Chen CA et al.
Journal of Medical Genetics, 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
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
Molecular analysis of PROP1, POU1F1, LHX3, and HESX1 in Turkish patients with combined pituitary hormone deficiency: a multicenter study.
Baş F et al.
Endocrine, 2015
Human gene-centered transcription factor networks for enhancers and disease variants.
Fuxman Bass JI et al.
Cell, 2015
Identification of HESX1 mutations in Kallmann syndrome.
Newbern K et al.
Fertility and Sterility, 2013
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
A novel HESX1 splice mutation causes isolated GH deficiency by interfering with mRNA processing.
Vivenza D et al.
European Journal of Endocrinology, 2011
Genetic forms of hypopituitarism and their manifestation in the neonatal period.
Alatzoglou KS et al.
Early Human Development, 2009
A novel SNP of the Hesx1 gene in bovine and its associations with average daily gain.
Lai X et al.
Molecular Biology Reports, 2009
Growth without growth hormone and similar dysmorphic features in three patients with sporadic combined pituitary hormone deficiencies.
Gat-Yablonski G et al.
Hormone Research, 2009
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
Developmental disorders of the hypothalamus and pituitary gland associated with congenital hypopituitarism.
Mehta A et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 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
HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.
McNay DE et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Hypopituitarism oddities: congenital causes.
Kelberman D et al.
Hormone Research, 2007
Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities.
Sobrier ML et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
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
Enhanced repression by HESX1 as a cause of hypopituitarism and septooptic dysplasia.
Cohen RN et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
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
Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient.
Tajima T et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Genetic characterization of growth hormone deficiency and resistance: implications for treatment with recombinant growth hormone.
Baumann G
American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice, 2002
Molecular effects of novel mutations in Hesx1/HESX1 associated with human pituitary disorders.
Brickman JM et al.
Development (cambridge, England), 2001
Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia.
Thomas PQ et al.
Human Molecular Genetics, 2001
Molecular genetics of septo-optic dysplasia.
Dattani ML et al.
Hormone Research, 2000
Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse.
Dattani MT et al.
Nature Genetics, 1998
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