Associated Papers
Functional Properties of POU1F1 Mutants in the Transcriptional Regulation of the Thyrotropin β Gene Compared with the Prolactin Gene.
Kawauchi Y et al.
International Journal of Molecular Sciences, 2025
Identification of POU1F1 Variants in Vietnamese Patients with Combined Pituitary Hormone Deficiency.
Nguyen HT et al.
International Journal of Molecular Sciences, 2025
POU1F1/Pou1f1 c.143-83A > G Variant Disrupts the Branch Site in Pre-mRNA and Leads to Dwarfism.
Akiba K et al.
Endocrinology, 2022
IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency.
Fourneaux R et al.
European Journal of Endocrinology, 2022
Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature.
Chen WY et al.
Molecular Genetics and Metabolism Reports, 2021
POU1F1 mutations in combined pituitary hormone deficiency: differing spectrum of mutations in a Western-Indian cohort and systematic analysis of world literature.
Jadhav S et al.
Pituitary, 2021
Advances in differential diagnosis and management of growth hormone deficiency in children.
Hage C et al.
Nature Reviews. Endocrinology, 2021
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.
Gergics P et al.
American Journal of Human Genetics, 2021
Congenital Hypopituitarism During the Neonatal Period: Epidemiology, Pathogenesis, Therapeutic Options, and Outcome.
Bosch I Ara L et al.
Frontiers in Pediatrics, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Genetic variation in thyroid folliculogenesis influences susceptibility to hypothyroidism-induced hearing impairment.
Mortensen AH et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2019
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Farwell Hagman KD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.
Fang Q et al.
Endocrine Reviews, 2016
Genetic causes of isolated and combined pituitary hormone deficiency.
Giordano M
Best Practice & Research. Clinical Endocrinology & Metabolism, 2016
Required enhancer-matrin-3 network interactions for a homeodomain transcription program.
Skowronska-Krawczyk D et al.
Nature, 2014
Vertical transmission of hypopituitarism: critical importance of appropriate interpretation of thyroid function tests and levothyroxine therapy during pregnancy.
Pine-Twaddell E et al.
Thyroid : Official Journal of the American Thyroid Association, 2013
Two novel mutations in the POU1F1 gene generate null alleles through different mechanisms leading to combined pituitary hormone deficiency.
Turton JP et al.
Clinical Endocrinology, 2012
Identification of a novel mutation in the exon 2 splice donor site of the POU1F1/PIT-1 gene in Japanese identical twins with mild combined pituitary hormone deficiency.
Inoue H et al.
Clinical Endocrinology, 2012
Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarism.
Takagi M et al.
Plos One, 2012
A novel POU1F1 mutation (p.Thr168IlefsX7) associated with an early and severe form of combined pituitary hormone deficiency: functional analysis and follow-up from infancy to adulthood.
Tenenbaum-Rakover Y et al.
Clinical Endocrinology, 2011
Novel mutations associated with combined pituitary hormone deficiency.
Romero CJ et al.
Journal of Molecular Endocrinology, 2011
[Genetic background of inherited multiple pituitary hormone deficiency. Mutations of PROP1 gene in Hungary].
Halász Z
Orvosi Hetilap, 2011
Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency.
Pfäffle R et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2011
PROP1, HESX1, POU1F1, LHX3 and LHX4 mutation and deletion screening and GH1 P89L and IVS3+1/+2 mutation screening in a Dutch nationwide cohort of patients with combined pituitary hormone deficiency.
de Graaff LC et al.
Hormone Research in Paediatrics, 2010
Genetics of isolated growth hormone deficiency.
Mullis PE
Journal of Clinical Research in Pediatric Endocrinology, 2010
Genetic regulation of pituitary gland development in human and mouse.
Kelberman D et al.
Endocrine Reviews, 2009
The molecular basis of hypopituitarism.
Romero CJ et al.
Trends in Endocrinology and Metabolism: Tem, 2009
Genetic forms of hypopituitarism and their manifestation in the neonatal period.
Alatzoglou KS et al.
Early Human Development, 2009
Congenital hypopituitarism: clinical, molecular and neuroradiological correlates.
Mehta A et al.
Clinical Endocrinology, 2009
A novel recessive splicing mutation in the POU1F1 gene causing combined pituitary hormone deficiency.
Carlomagno Y et al.
Journal of Endocrinological Investigation, 2009
The candidate gene approach to the diagnosis of monogenic disorders.
Dattani MT
Hormone Research, 2009
Role of transcription factors in midline central nervous system and pituitary defects.
Kelberman D et al.
Endocrine Development, 2009
Multiple pituitary hormone deficiency caused by pit-I mutation and the challenges of management in a developing country.
Ayoola OO et al.
Annals of Ibadan Postgraduate Medicine, 2008
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
[Clinical and genetic aspects of combined pituitary hormone deficiencies].
Castinetti F et al.
Annales D'endocrinologie, 2008
A novel germline mutation, IVS4+1G>A, of the POU1F1 gene underlying combined pituitary hormone deficiency.
Snabboon T et al.
Hormone Research, 2008
Hypothalamic and pituitary development: novel insights into the aetiology.
Kelberman D et al.
European Journal of Endocrinology, 2007
Congenital thyrotropin deficiency--from discovery to molecular biology, postgenome and preventive medicine.
Miyai K
Endocrine Journal, 2007
Genetics of growth hormone deficiency.
Mullis PE
Endocrinology and Metabolism Clinics of North America, 2007
Hypopituitarism oddities: congenital causes.
Kelberman D et al.
Hormone Research, 2007
Involvement of the pituitary-specific transcription factor pit-1 in somatolactotrope cell growth and death: an approach using dominant-negative pit-1 mutants.
Pellegrini I et al.
Molecular Endocrinology (baltimore, Md.), 2006
Pituitary transcription factors: from congenital deficiencies to gene therapy.
Quentien MH et al.
Journal of Neuroendocrinology, 2006
[Combined deficiency of TSH, GH, and PRL (PIT1 abnormality and PROP1 abnormality)].
Tatsumi KI
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2006
The role of CBP/p300 interactions and Pit-1 dimerization in the pathophysiological mechanism of combined pituitary hormone deficiency.
Cohen RN 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
Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.
Turton JP et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter?
Dattani MT
Clinical Endocrinology, 2005
The role of growth hormone in determining birth size and early postnatal growth, using congenital growth hormone deficiency (GHD) as a model.
Mehta A et al.
Clinical Endocrinology, 2005
Three novel mutations in POU1F1 in Israeli patients with combined pituitary hormone deficiency.
Gat-Yablonski G et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2005