Varaico: Literature-Extracted Genetic Variants

Gene:HESX1
Variant:p.Q117P
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HESX1

NM_003865.3:p.Q117P

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

Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.

Vishnopolska SA et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Identification of HESX1 mutations in Kallmann syndrome.

Newbern K et al.

Fertility and Sterility, 2013

Novel mutations associated with combined pituitary hormone deficiency.

Romero CJ et al.

Journal of Molecular Endocrinology, 2011

Genetic regulation of pituitary gland development in human and mouse.

Kelberman D et al.

Endocrine Reviews, 2009

Heterozygous mutation of HESX1 causing hypopituitarism and multiple anatomical malformations without features of septo-optic dysplasia.

Corneli G et al.

Journal of Endocrinological Investigation, 2008

DNMT1 interacts with the developmental transcriptional repressor HESX1.

Sajedi E et al.

Biochimica Et Biophysica Acta, 2008

Septo-optic dysplasia - novel insights into the aetiology.

Kelberman D et al.

Hormone Research, 2008

Hypothalamic and pituitary development: novel insights into the aetiology.

Kelberman D et al.

European Journal of Endocrinology, 2007

Panhypopituitarism: genetic versus acquired etiological factors.

Coya R et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2007

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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."