Varaico: Literature-Extracted Genetic Variants

Gene:SHOX
Variant:p.Y141D
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SHOX

NM_000451.4:p.Y141D

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

Identification and Tissue-Specific Characterization of Novel SHOX-Regulated Genes in Zebrafish Highlights SOX Family Members Among Other Genes.

Hoffmann S et al.

Frontiers in Genetics, 2021

A Track Record on SHOX: From Basic Research to Complex Models and Therapy.

Marchini A et al.

Endocrine Reviews, 2016

Identification of novel SHOX target genes in the developing limb using a transgenic mouse model.

Beiser KU et al.

Plos One, 2014

FGFR3 is a target of the homeobox transcription factor SHOX in limb development.

Decker E et al.

Human Molecular Genetics, 2011

The novel human SHOX allelic variant database.

Niesler B et al.

Human Mutation, 2007

SHOX at a glance: from gene to protein.

Marchini A et al.

Archives of Physiology and Biochemistry, 2007

Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency.

Rappold G et al.

Journal of Medical Genetics, 2007

Growth hormone is effective in treatment of short stature associated with short stature homeobox-containing gene deficiency: Two-year results of a randomized, controlled, multicenter trial.

Blum WF et al.

The Journal of Clinical Endocrinology and Metabolism, 2007

Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis.

Schneider KU et al.

Human Mutation, 2005

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