Varaico: Literature-Extracted Genetic Variants

Gene:PROP1
Variant:p.W194*
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PROP1

NM_006261.5:p.W194*

Associated Papers

Association of Homozygous PROP1 Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency.

Almatrafi AM et al.

Medicina (kaunas, Lithuania), 2023

Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.

Jullien N et al.

Clinical Endocrinology, 2021

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

Combined pituitary hormone deficiency: current and future status.

Castinetti F et al.

Journal of Endocrinological Investigation, 2015

[Genetic aspects of growth hormone deficiency].

Reynaud R et al.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2011

Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency.

Pfäffle R et al.

Best Practice & Research. Clinical Endocrinology & Metabolism, 2011

Genetic regulation of pituitary gland development in human and mouse.

Kelberman D et al.

Endocrine Reviews, 2009

Identification and analysis of prophet of Pit-1-binding sites in human Pit-1 gene.

Ikeshita N et al.

Endocrinology, 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

Hypothalamic and pituitary development: novel insights into the aetiology.

Kelberman D et al.

European Journal of Endocrinology, 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

An uncommon phenotype with familial central hypogonadism caused by a novel PROP1 gene mutant truncated in the transactivation domain.

Reynaud R et al.

The Journal of Clinical Endocrinology and Metabolism, 2005

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

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