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
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Tooze RS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Association of Homozygous PROP1 Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency.
Almatrafi AM et al.
Medicina (kaunas, Lithuania), 2023
Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals.
Shiga N et al.
Human Genome Variation, 2022
Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery.
Correa FA et al.
Archives of Endocrinology and Metabolism, 2019
A Large PROP1 Gene Deletion in a Turkish Pedigree.
Gorar S et al.
Case Reports in Endocrinology, 2018
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
Genetic regulation of pituitary gland development in human and mouse.
Kelberman D et al.
Endocrine Reviews, 2009
[Evaluation of pituitary imaging in patients with prop-1 gene mutation].
Tkacenko N et al.
Medicina (kaunas, Lithuania), 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
Role of the thyrotropin-releasing hormone stimulation test in diagnosis of congenital central hypothyroidism in infants.
van Tijn DA et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Molecular analysis of PROP1, PIT1, HESX1, LHX3, and LHX4 shows high frequency of PROP1 mutations in patients with familial forms of combined pituitary hormone deficiency.
Vieira TC et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2007
High prevalence of PROP1 gene mutations in Hungarian patients with childhood-onset combined anterior pituitary hormone deficiency.
Halász Z et al.
Endocrine, 2006
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
Genetic defects in GH synthesis and secretion.
Bona G et al.
European Journal of Endocrinology, 2004
Conserved amino acid sequences confer nuclear localization upon the Prophet of Pit-1 pituitary transcription factor protein.
Guy JC et al.
Gene, 2004
Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism.
Vono-Toniolo J et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2004
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
A prismatic case: A 31-year old man who did not miss his pituitary.
Petzold S et al.
Hormones (athens, Greece), 0