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
DNA binding analysis of rare variants in homeodomains reveals homeodomain specificity-determining residues.
Kock KH et al.
Nature Communications, 2024
GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings in ANOS1, RNF216, WDR11, FGFR1, CHD7, and POLR3A Genes in a Case Series and Review of the Literature.
Neocleous V et al.
Frontiers in Endocrinology, 2020
Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery.
Correa FA et al.
Archives of Endocrinology and Metabolism, 2019
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
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.
Fang Q et al.
Endocrine Reviews, 2016
Molecular analysis of the PROP1 and HESX1 genes in patients with septo-optic dysplasia and/or pituitary hormone deficiency.
Cruz JB et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2010
Genetic regulation of pituitary gland development in human and mouse.
Kelberman D et al.
Endocrine Reviews, 2009
Basic science and clinical research advances in the pituitary transcription factors: Pit-1 and Prop-1.
Kerr J et al.
Current Opinion in Endocrinology, Diabetes, and Obesity, 2008
PROP1 gene analysis in Portuguese patients with combined pituitary hormone deficiency.
Lemos MC et al.
Clinical Endocrinology, 2006
Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion.
Abrão MG et al.
Clinical Endocrinology, 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
A novel PROP1 gene mutation (157delA) in Japanese siblings with combined anterior pituitary hormone deficiency.
Tatsumi KI et al.
Clinical Endocrinology, 2004
Long-term growth hormone therapy in adulthood results in significant linear growth in siblings with a PROP-1 gene mutation.
Lee JK et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
Genetic defects in GH synthesis and secretion.
Bona G et al.
European Journal of Endocrinology, 2004
Pituitary magnetic resonance imaging in 15 patients with Prop1 gene mutations: pituitary enlargement may originate from the intermediate lobe.
Voutetakis A et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
Prolonged jaundice and hypothyroidism as the presenting symptoms in a neonate with a novel Prop1 gene mutation (Q83X).
Voutetakis A et al.
European Journal of Endocrinology, 2004
Novel TSHbeta subunit gene mutation causing congenital central hypothyroidism in a newborn male.
Morales AE et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2004
Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism.
Vono-Toniolo J et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2004
Cushing's disease as the first clinical manifestation of multiple endocrine neoplasia type 1 (MEN1) associated with an R460X mutation of the MEN1 gene.
Matsuzaki LN et al.
Clinical Endocrinology, 2004
Two new PROP1 gene mutations responsible for compound pituitary hormone deficiency.
Paracchini R et al.
Clinical Genetics, 2003
Combined pituitary hormone deficiency in Australian children: clinical and genetic correlates.
McLennan K et al.
Clinical Endocrinology, 2003
Familial combined pituitary hormone deficiency due to a novel mutation R99Q in the hot spot region of Prophet of Pit-1 presenting as constitutional growth delay.
Vieira TC et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Long-term follow-up of childhood-onset hypopituitarism in patients with the PROP-1 gene mutation.
Pavel ME et al.
Hormone Research, 2003
Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes.
Osorio MG et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
A unique case of combined pituitary hormone deficiency caused by a PROP1 gene mutation (R120C) associated with normal height and absent puberty.
Arroyo A et al.
Clinical Endocrinology, 2002
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
Genetic defects in the development and function of the anterior pituitary gland.
Cushman LJ et al.
Annals of Medicine, 2002
Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to PROP1 mutation.
Riepe FG et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency.
Vallette-Kasic S et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
Combined pituitary hormone deficiency caused by a novel mutation of a highly conserved residue (F88S) in the homeodomain of PROP-1.
Osorio MG et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
PROP-1 gene mutations in a 63-year-old woman presenting with osteoporosis and hyperlipidaemia.
Andrikoula M et al.
Hormones (athens, Greece), 0