Varaico: Literature-Extracted Genetic Variants

Gene:PROP1
Variant:p.S156insFs
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PROP1

NM_006261.5:p.S156insFs

Associated Papers

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

Almatrafi AM et al.

Medicina (kaunas, Lithuania), 2023

Marked phenotypic variable expression among brothers with duplication of Xq27.1 involving the SOX3 gene.

Rosolowsky ET et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 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

Genetic regulation of pituitary gland development in human and mouse.

Kelberman D et al.

Endocrine Reviews, 2009

Identification and analysis of prophet of Pit-1-binding sites in human Pit-1 gene.

Ikeshita N et al.

Endocrinology, 2008

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

Congenital combined pituitary hormone deficiency attributable to a novel PROP1 mutation (467insT).

Nose O et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 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

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