Varaico: Literature-Extracted Genetic Variants

Gene:PROP1
Variant:p.R71C
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PROP1

NM_006261.5:p.R71C

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

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

Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.

Fang Q et al.

Endocrine Reviews, 2016

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

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

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

Guy JC et al.

Gene, 2004

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

Paracchini R et al.

Clinical Genetics, 2003

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