Variants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency
Published 2020 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Variants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency
Authors
Keywords
-
Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume -, Issue -, Pages -
Publisher
Springer Science and Business Media LLC
Online
2020-07-09
DOI
10.1038/s41431-020-0676-y
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Co-occurrence of genomic imbalances on Xp22.1 in the SHOX region and 15q25.2 in a girl with short stature, precocious puberty, urogenital malformations and bone anomalies
- (2019) Alice Monzani et al. BMC Medical Genomics
- miRWalk: An online resource for prediction of microRNA binding sites
- (2018) Carsten Sticht et al. PLoS One
- VarSome: the human genomic variant search engine
- (2018) Christos Kopanos et al. BIOINFORMATICS
- Comparison of SHOX and associated elements duplications distribution between patients (Lėri-Weill dyschondrosteosis/idiopathic short stature) and population sample
- (2017) Katerina Hirschfeldova et al. GENE
- Improving clinical diagnosis in SHOX deficiency: the importance of growth velocity
- (2017) Giulia Genoni et al. PEDIATRIC RESEARCH
- A Track Record on SHOX: From Basic Research to Complex Models and Therapy
- (2016) Antonio Marchini et al. ENDOCRINE REVIEWS
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature
- (2015) Maki Fukami et al. JOURNAL OF HUMAN GENETICS
- TheCDKN2A/p16INK4a5′UTR sequence and translational regulation: impact of novel variants predisposing to melanoma
- (2015) Virginia Andreotti et al. Pigment Cell & Melanoma Research
- Functional analysis of four LDLR 5′UTR and promoter variants in patients with familial hypercholesterolaemia
- (2014) Amna Khamis et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Genetic Evaluation of Short Stature
- (2014) Andrew Dauber et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Diagnostic screening identifies a wide range of mutations involving theSHOXgene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect
- (2013) David J. Bunyan et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Alternative 5’ Untranslated Regions Are Involved in Expression Regulation of Human Heme Oxygenase-1
- (2013) Marcel Kramer et al. PLoS One
- Phenotypic characterization of patients with deletions in the 3’-flanking SHOXregion
- (2013) Sarina G. Kant et al. PeerJ
- A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus
- (2012) Oliver Semler et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Before It Gets Started: Regulating Translation at the 5′ UTR
- (2012) Patricia R. Araujo et al. COMPARATIVE AND FUNCTIONAL GENOMICS
- Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature
- (2011) Sara Benito-Sanz et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri–Weill dyschondrosteosis
- (2011) K. Hirschfeldova et al. GENE
- Functional analysis of CDKN2A/p16INK4a 5′-UTR variants predisposing to melanoma
- (2010) Alessandra Bisio et al. HUMAN MOLECULAR GENETICS
- Clinical and Molecular Evaluation ofSHOX/PAR1 Duplications in Léri-Weill Dyschondrosteosis (LWD) and Idiopathic Short Stature (ISS)
- (2010) S. Benito-Sanz et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- The mechanism of eukaryotic translation initiation and principles of its regulation
- (2010) Richard J. Jackson et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Leg Length, Body Proportion, and Health: A Review with a Note on Beauty
- (2010) Barry Bogin et al. International Journal of Environmental Research and Public Health
- Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain
- (2009) J Chen et al. JOURNAL OF MEDICAL GENETICS
- Human Splicing Finder: an online bioinformatics tool to predict splicing signals
- (2009) François-Olivier Desmet et al. NUCLEIC ACIDS RESEARCH
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationFind the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
Search