Varaico: Literature-Extracted Genetic Variants

Gene:HESX1
Variant:p.E149K
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HESX1

NM_003865.3:p.E149K

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

DNA binding analysis of rare variants in homeodomains reveals homeodomain specificity-determining residues.

Kock KH et al.

Nature Communications, 2024

38600112 (PubMed )
Supplement: 41467_2024_47396_MOESM5_ESM.xls › variants

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

Vishnopolska SA et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Development of the Pituitary Gland.

Alatzoglou KS et al.

Comprehensive Physiology, 2020

Pituitary stalk interruption syndrome is characterized by genetic heterogeneity.

Brauner R et al.

Plos One, 2020

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

Fang Q et al.

Endocrine Reviews, 2016

Identification of HESX1 mutations in Kallmann syndrome.

Newbern K et al.

Fertility and Sterility, 2013

Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD).

Alatzoglou KS et al.

Indian Journal of Pediatrics, 2012

Novel mutations associated with combined pituitary hormone deficiency.

Romero CJ et al.

Journal of Molecular Endocrinology, 2011

A novel homozygous HESX1 mutation causes panhypopituitarism without midline defects and optic nerve anomalies.

Durmaz B et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2011

Genetic causes and treatment of isolated growth hormone deficiency-an update.

Alatzoglou KS et al.

Nature Reviews. Endocrinology, 2010

Genetic regulation of pituitary gland development in human and mouse.

Kelberman D et al.

Endocrine Reviews, 2009

Growth without growth hormone and similar dysmorphic features in three patients with sporadic combined pituitary hormone deficiencies.

Gat-Yablonski G et al.

Hormone Research, 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

HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.

McNay DE et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

Genetics of septo-optic dysplasia.

Kelberman D et al.

Pituitary, 2007

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