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
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
Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.
Sobrier ML et al.
Human Molecular Genetics, 2016
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
Pit-1 mutation and lipoedema in a family.
Bano G et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2010
Genetic regulation of pituitary gland development in human and mouse.
Kelberman D et al.
Endocrine Reviews, 2009
A novel recessive splicing mutation in the POU1F1 gene causing combined pituitary hormone deficiency.
Carlomagno Y et al.
Journal of Endocrinological Investigation, 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
A novel germline mutation, IVS4+1G>A, of the POU1F1 gene underlying combined pituitary hormone deficiency.
Snabboon T et al.
Hormone Research, 2008
Congenital thyrotropin deficiency--from discovery to molecular biology, postgenome and preventive medicine.
Miyai K
Endocrine Journal, 2007
Identification and functional analysis of the novel S179R POU1F1 mutation associated with combined pituitary hormone deficiency.
Miyata I et al.
The Journal of Clinical Endocrinology and Metabolism, 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 transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism.
Kelberman D et al.
Annals of Medicine, 2006
Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects.
Lebl J et al.
European Journal of 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
Absent or delayed adrenarche in Pit-1/POU1F1 deficiency.
Taha D et al.
Hormone Research, 2005
The de novo Q167K mutation in the POU1F1 gene leads to combined pituitary hormone deficiency in an Italian patient.
Malvagia S et al.
Pediatric Research, 2003
New N-terminal located mutation (Q4ter) within the POU1F1-gene (PIT-1) causes recessive combined pituitary hormone deficiency and variable phenotype.
Salemi S et al.
Growth Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society, 2003
A novel nonsense mutation in the Pit-1 gene: evidence for a gene dosage effect.
Hashimoto Y et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Novel function of the transactivation domain of a pituitary-specific transcription factor, Pit-1.
Kishimoto M et al.
The Journal of Biological Chemistry, 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
Combined pituitary hormone deficiency caused by compound heterozygosity for two novel mutations in the POU domain of the Pit1/POU1F1 gene.
Hendriks-Stegeman BI et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
POU domain factors in the neuroendocrine system: lessons from developmental biology provide insights into human disease.
Andersen B et al.
Endocrine Reviews, 2001
A new C-terminal located mutation (V272ter) in the PIT-1 gene manifesting with severe congenital hypothyroidism. Possible functionality of the PIT-1 C-terminus.
Blankenstein O et al.
Hormone Research, 2001
Heritable disorders of pituitary development.
Parks JS et al.
The Journal of Clinical Endocrinology and Metabolism, 1999
Combined pituitary hormone deficiency: role of Pit-1 and Prop-1.
Pfäffle RW et al.
Acta Paediatrica (oslo, Norway : 1992). Supplement, 1999
The molecular genetics of growth hormone deficiency.
Procter AM et al.
Human Genetics, 1998
Rarity of PIT1 involvement in children from Russia with combined pituitary hormone deficiency.
Fofanova OV et al.
American Journal of Medical Genetics, 1998
Pro239Ser: a novel recessive mutation of the Pit-1 gene in seven Middle Eastern children with growth hormone, prolactin, and thyrotropin deficiency.
Pernasetti F et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
Severe congenital hypopituitarism with low prolactin levels and age-dependent anterior pituitary hypoplasia: a clue to a PIT-1 mutation.
Ward L et al.
The Journal of Pediatrics, 1998
[Molecular genetics of congenital isolated thyrotropin deficiency].
Miyai K
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1994
Mutations in the Pit-1 gene in children with combined pituitary hormone deficiency.
Ohta K et al.
Biochemical and Biophysical Research Communications, 1992
Pit-1 and pituitary function.
Pfäffle RW et al.
The Journal of Pediatric Endocrinology, 0
Clinical and molecular characterization of a Brazilian patient with Pit-1 deficiency.
Arnhold IJ et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 0