Varaico: Literature-Extracted Genetic Variants

Gene:SHOX
Variant:p.R153L
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SHOX

NM_000451.4:p.R153L

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

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

SHOX triggers the lysosomal pathway of apoptosis via oxidative stress.

Hristov G et al.

Human Molecular Genetics, 2014

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

Beiser KU 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

Short stature homeoboxcontaining gene and idiopathic short stature.

Iughetti L et al.

Expert Review of Endocrinology & Metabolism, 2009

BNP is a transcriptional target of the short stature homeobox gene SHOX.

Marchini A et al.

Human Molecular Genetics, 2007

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

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

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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