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
DNA binding analysis of rare variants in homeodomains reveals homeodomain specificity-determining residues.
Kock KH et al.
Nature Communications, 2024
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Tooze RS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
A Track Record on SHOX: From Basic Research to Complex Models and Therapy.
Marchini A et al.
Endocrine Reviews, 2016
A Deletion of More than 800 kb Is the Most Recurrent Mutation in Chilean Patients with SHOX Gene Defects.
Poggi H et al.
Hormone Research in Paediatrics, 2015
NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development.
Aza-Carmona M et al.
Plos One, 2014
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
Protein localization in disease and therapy.
Hung MC et al.
Journal of Cell Science, 2011
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 jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis.
Kant SG et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
Prediction of disease-related mutations affecting protein localization.
Laurila K et al.
Bmc Genomics, 2009
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
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
Impairment of SHOX nuclear localization as a cause for Léri-Weill syndrome.
Sabherwal N et al.
Journal of Cell Science, 2004
Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation.
Shears DJ et al.
American Journal of Medical Genetics, 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
SHOX point mutations in dyschondrosteosis.
Huber C et al.
Journal of Medical Genetics, 2001