Varaico: Literature-Extracted Genetic Variants

Gene:PROP1
Variant:p.F117I
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PROP1

NM_006261.5:p.F117I

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

41279221 (PubMed )
Supplement: media-2.xlsx › SuppTable2

Comparison of clinical characteristics of a pediatric cohort with combined pituitary hormone deficiency caused by mutation of the PROP1 gene or of other origins.

Zygmunt-Górska A et al.

Hormones (athens, Greece), 2024

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

Mutations Within the Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency

Bulut FD et al.

Journal of Clinical Research in Pediatric 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

Detection of genetic hypopituitarism in an adult population of idiopathic pituitary insufficiency patients with growth hormone deficiency.

Nyström HF et al.

Pituitary, 2011

[Genetic background of inherited multiple pituitary hormone deficiency. Mutations of PROP1 gene in Hungary].

Halász Z

Orvosi Hetilap, 2011

Mutations and pituitary morphology in a series of 82 patients with PROP1 gene defects.

Obermannova B et al.

Hormone Research in Paediatrics, 2011

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

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

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

Auxological and endocrine phenotype in a population-based cohort of patients with PROP1 gene defects.

Lebl J et al.

European Journal of Endocrinology, 2005

A novel PROP1 gene mutation (157delA) in Japanese siblings with combined anterior pituitary hormone deficiency.

Tatsumi KI et al.

Clinical Endocrinology, 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

Novel insights into the aetiology and pathogenesis of hypopituitarism.

Dattani MT

Hormone Research, 2004

Two new PROP1 gene mutations responsible for compound pituitary hormone deficiency.

Paracchini R et al.

Clinical Genetics, 2003

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

Familial combined pituitary hormone deficiency caused by PROP-1 gene mutation. Growth patterns and MRI studies in untreated subjects.

Crone J et al.

Hormone Research, 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

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

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

The molecular basis for developmental disorders of the pituitary gland in man.

Dattani MT et al.

Clinical Genetics, 2000

Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301-302delAG) in the prophet of Pit-1 gene.

Pernasetti F et al.

The Journal of Clinical Endocrinology and Metabolism, 2000

"Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency.

Deladoëy J et al.

The Journal of Clinical Endocrinology and Metabolism, 1999

Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene.

Mendonca BB et al.

The Journal of Clinical Endocrinology and Metabolism, 1999

The molecular genetics of growth hormone deficiency.

Procter AM et al.

Human Genetics, 1998

Mutations in PROP1 cause familial combined pituitary hormone deficiency.

Wu W et al.

Nature Genetics, 1998

PROP-1 gene mutations in a 63-year-old woman presenting with osteoporosis and hyperlipidaemia.

Andrikoula M et al.

Hormones (athens, Greece), 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."