Enhancer elements upstream of the SHOX gene are active in the developing limb

Nature·Dec 9

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Research has found that enhancer elements located upstream of the SHOX gene are active in the developing limb. Studies have also identified various genetic variations, including deletions and duplications, in the SHOX region that are associated with short stature and other phenotypic anomalies. The specific effects and mechanisms of these variations are being investigated through molecular analyses and characterization of the SHOX regulatory landscape.

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Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri-Weill dyschondrosteosis

Wiley Online Library·Nov 23

Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis -regulatory landscape

Nature·Dec 3

Spectrum of phenotypic anomalies in four families with deletion of the SHOX enhancer region

Springer Nature Link·Jul 23

Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene

Nature·Sep 24

Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature

Nature·Nov 9

Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri–Weill dyschondrosteosis

Nature·Mar 17

Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness

Nature·Oct 6

Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region

Nature·Sep 8

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