Varaico: Literature-Extracted Genetic Variants

Gene:PROP1
Variant:p.R73H
Back to variants list

PROP1

NM_006261.5:p.R73H

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

Clinical Characteristics of Children with Combined Pituitary Hormone Deficiency and the Effects of Growth Hormone Treatment.

Besci Ö et al.

Klinische Padiatrie, 2025

Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes.

Kırkgöz T et al.

Archives of Endocrinology and Metabolism, 2023

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

Almatrafi AM et al.

Medicina (kaunas, Lithuania), 2023

Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.

Liu F et al.

Signal Transduction and Targeted Therapy, 2021

33563892 (PubMed )
Supplement: 41392_2020_412_MOESM17_ESM.xlsx › Supplementary_Table_S16

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

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

Fang Q et al.

Endocrine Reviews, 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

[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

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

Homeodomain revisited: a lesson from disease-causing mutations.

Chi YI

Human Genetics, 2005

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

Tatsumi KI et al.

Clinical Endocrinology, 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

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

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

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

Andrikoula M et al.

Hormones (athens, Greece), 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."