Varaico: Literature-Extracted Genetic Variants

Gene:PROP1
Variant:p.Q83*
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PROP1

NM_006261.5:p.Q83*

Associated Papers

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

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

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

Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency.

Ziemnicka K et al.

Journal of Applied Genetics, 2016

Combined pituitary hormone deficiency: current and future status.

Castinetti F et al.

Journal of Endocrinological Investigation, 2015

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

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

Tatsumi KI et al.

Clinical Endocrinology, 2004

Prolonged jaundice and hypothyroidism as the presenting symptoms in a neonate with a novel Prop1 gene mutation (Q83X).

Voutetakis A et al.

European Journal of Endocrinology, 2004

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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