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
Clinical and Genetic Characteristics of 23 Korean Patients with Haploinsufficiency of the Short-stature Homeobox-containing Gene.
Lee JS et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2021
Screening of SHOX gene sequence variants in Saudi Arabian children with idiopathic short stature.
Alharthi AA et al.
Korean Journal of Pediatrics, 2017
Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness.
Hirschfeldova K et al.
Journal of Human Genetics, 2017
A Track Record on SHOX: From Basic Research to Complex Models and Therapy.
Marchini A et al.
Endocrine Reviews, 2016
Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect.
Bunyan DJ et al.
American Journal of Medical Genetics. Part A, 2013
SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer.
Aza-Carmona M 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
High incidence of SHOX anomalies in individuals with short stature.
Huber C et al.
Journal of Medical Genetics, 2006
[SHOX haploinsufficiency].
Ogata T
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2006
Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer.
Fukami M et al.
American Journal of Medical Genetics. Part A, 2005
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 haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity.
Binder G et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
Statural growth in 31 Japanese patients with SHOX haploinsufficiency: support for a disadvantageous effect of gonadal estrogens.
Fukami M et al.
Endocrine Journal, 2004
SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features.
Ogata T et al.
The Journal of Clinical Endocrinology and Metabolism, 2002