Clinical impact of variants in non-coding regions of SHOX – Current knowledge-Reference-Cited by-同舟云学术

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Clinical impact of variants in non-coding regions of SHOX – Current knowledge

Published:2022-04 Issue: Volume:818 Page:146238
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Spurna Zuzana,Capkova Pavlina,Srovnal Josef,Duchoslavova Jana,Punova Lucia,Aleksijevic Darina,Vrtel Radek

Funder

Ministerstvo zdravotnictvi Ceske republiky

Palacky University Olomouc

European Regional Development Fund

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference67 articles.

1. Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin;Alexandrou;J Genet.,2016

2. Screening of SHOX gene sequence variants in Saudi Arabian children with idiopathic short stature;Alharthi;Korean J Pediatr.,2017

3. SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer;Aza-Carmona;Hum. Mol. Genet.,2011

4. Variants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency;Babu;Eur. J. Hum. Genet.,2021

5. Identification of novel SHOX target genes in the developing limb using a transgenic mouse model;Beiser;PLoS One,2014

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Mild phenotypes in patients with different deletions in the 3′ enhancer region of SHOX;European Journal of Human Genetics;2024-06-24

2. SHOX Deletion and Idiopathic Short Stature: What Does the Clinician Need to Know? Case Series Report;Diagnostics;2022-12-29

3. Approach to the Patient With Short Stature: Genetic Testing;The Journal of Clinical Endocrinology & Metabolism;2022-11-10

4. Bassa statura patologica e alterazioni del gene SHOX;L'Endocrinologo;2022-09-21

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