Varaico: Literature-Extracted Genetic Variants

Gene:PROP1
Variant:p.R73C
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PROP1

NM_006261.5:p.R73C

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

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

Almatrafi AM et al.

Medicina (kaunas, Lithuania), 2023

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _B__Y2H-SI_disMut_edgotypes

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

Jullien N et al.

Clinical Endocrinology, 2021

Hypopituitarism in five PROP1 mutation siblings: long-lasting natural course and the effects of growth hormone replacement introduction in middle adulthood.

Doknic M et al.

Pituitary, 2020

Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery.

Correa FA et al.

Archives of Endocrinology and Metabolism, 2019

Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary.

Penta L et al.

International Journal of Molecular Sciences, 2019

Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomes.

Blum WF et al.

Ebiomedicine, 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

Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.

Fujikura K

Plos One, 2016

Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort.

De Rienzo F et al.

Clinical Endocrinology, 2015

Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism.

Fritez N et al.

Clinical Endocrinology, 2015

Identification of SNPs within the sheep PROP1 gene and their effects on wool traits.

Zeng XC et al.

Molecular Biology Reports, 2011

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

Halász Z

Orvosi Hetilap, 2011

Genetic regulation of pituitary gland development in human and mouse.

Kelberman D et al.

Endocrine Reviews, 2009

A novel missense (A79V) mutation of goat PROP1 gene and its association with production traits.

Lan X et al.

Molecular Biology Reports, 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

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

Genetic screening of combined pituitary hormone deficiency: experience in 195 patients.

Reynaud R et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

Combined pituitary hormone deficiency (CPHD) due to a complete PROP1 deletion.

Abrão MG et al.

Clinical Endocrinology, 2006

Waxing and waning of a pituitary mass in a young woman with combined pituitary hormone deficiency (CPHD) due to a PROP-1 mutation.

Nascif SO et al.

Pituitary, 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

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

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

Tatsumi KI et al.

Clinical Endocrinology, 2004

A familial form of congenital hypopituitarism due to a PROP1 mutation in a large kindred: phenotypic and in vitro functional studies.

Reynaud R et al.

The Journal of Clinical Endocrinology and Metabolism, 2004

Conserved amino acid sequences confer nuclear localization upon the Prophet of Pit-1 pituitary transcription factor protein.

Guy JC et al.

Gene, 2004

Pituitary magnetic resonance imaging in 15 patients with Prop1 gene mutations: pituitary enlargement may originate from the intermediate lobe.

Voutetakis A et al.

The Journal of Clinical Endocrinology and Metabolism, 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

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

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

Adrenocorticotrope deficiency with clinical evidence for late onset in combined pituitary hormone deficiency caused by a homozygous 301-302delAG mutation of the PROP1 gene.

Lamesch C et al.

Pituitary, 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

PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency.

Vallette-Kasic S 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

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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