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
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
Screening of SHOX gene sequence variants in Saudi Arabian children with idiopathic short stature.
Alharthi AA et al.
Korean Journal of Pediatrics, 2017
Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature.
Sandberg ES et al.
Case Reports in Endocrinology, 2017
A Track Record on SHOX: From Basic Research to Complex Models and Therapy.
Marchini A et al.
Endocrine Reviews, 2016
A founder EIF2AK4 mutation causes an aggressive form of pulmonary arterial hypertension in Iberian Gypsies.
Tenorio J et al.
Clinical Genetics, 2015
Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis.
Hisado-Oliva A et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
Langer mesomelic dysplasia in early fetuses: two cases and a literature review.
Ambrosetti F et al.
Fetal and Pediatric Pathology, 2014
NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development.
Aza-Carmona M et al.
Plos One, 2014
Identification of novel SHOX target genes in the developing limb using a transgenic mouse model.
Beiser KU et al.
Plos One, 2014
A170P mutation in SHOX gene in a patient not presenting with Madelung deformity.
Alvarez-Mora MI et al.
Journal of Clinical Pathology, 2012
Clinical utility gene card for: Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD).
Albuisson J et al.
European Journal of Human Genetics : Ejhg, 2012
Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.
Barca-Tierno V et al.
European Journal of Human Genetics : Ejhg, 2011
Pseudoautosomal inheritance of Léri-Weill syndrome: what does it mean?
Evers C et al.
Clinical Genetics, 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
Tall stature and gonadal dysgenesis in a non-mosaic girl 45,X.
Fernandez R et al.
Hormone Research in Paediatrics, 2010
Functional analysis of human mutations in homeodomain transcription factor PITX3.
Sakazume S et al.
Bmc Molecular Biology, 2007
SHOX at a glance: from gene to protein.
Marchini A et al.
Archives of Physiology and Biochemistry, 2007
Compound heterozygosity of SHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD).
Campos-Barros A et al.
American Journal of Medical Genetics. Part A, 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
PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands.
Benito-Sanz S et al.
Human Mutation, 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
A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri-Weill dyschondrosteosis and Langer dysplasia.
Sabherwal N et al.
Journal of Medical Genetics, 2004
Short stature and dysmorphology associated with defects in the SHOX gene.
Leka SK et al.
Hormones (athens, Greece), 0