Varaico: Literature-Extracted Genetic Variants

Gene:SHOX
Variant:p.L132V
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SHOX

NM_000451.4:p.L132V

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

Screening of SHOX gene sequence variants in Saudi Arabian children with idiopathic short stature.

Alharthi AA et al.

Korean Journal of Pediatrics, 2017

Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency.

Montalbano A et al.

Embo Molecular Medicine, 2016

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

Marchini A et al.

Endocrine Reviews, 2016

NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development.

Aza-Carmona M et al.

Plos One, 2014

SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer.

Aza-Carmona M et al.

Human Molecular Genetics, 2011

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

Homeodomain revisited: a lesson from disease-causing mutations.

Chi YI

Human Genetics, 2005

SHOX mutations.

Hintz RL

Reviews in Endocrine & Metabolic Disorders, 2002

SHOX point mutations and deletions in Leri-Weill dyschondrosteosis.

Falcinelli C et al.

Journal of Medical Genetics, 2002

Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature.

Rappold GA et al.

The Journal of Clinical Endocrinology and Metabolism, 2002

Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia.

Grigelioniene G et al.

Human Genetics, 2000

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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."