Associated Papers
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
Wolfram Syndrome-2, a Cause of Severe Gastrointestinal Bleeding: A Case Series and a Literature Review.
Ateya R et al.
Jpgn Reports, 2023
Wolfram Syndrome Type 2: A Systematic Review of a Not Easily Identifiable Clinical Spectrum.
Rosanio FM et al.
International Journal of Environmental Research and Public Health, 2022
Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome.
Ren Z et al.
Bmc Endocrine Disorders, 2021
Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.
Moles-Fernández A et al.
Cancers, 2021
Novel mutations and the ophthalmologic characters in Chinese patients with Wolfram Syndrome.
Zhang Y et al.
Orphanet Journal of Rare Diseases, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
Astuti D et al.
Human Mutation, 2017
A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions.
Rouzier C et al.
Human Molecular Genetics, 2017
GLP-1-RA Corrects Mitochondrial Labile Iron Accumulation and Improves β-Cell Function in Type 2 Wolfram Syndrome.
Danielpur L et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2.
Mozzillo E et al.
Bmc Medical Genetics, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Wolfram syndrome 1 and Wolfram syndrome 2.
Rigoli L et al.
Current Opinion in Pediatrics, 2012
Current developments in Wolfram syndrome.
Ganie MA et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2009
A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2.
Amr S et al.
American Journal of Human Genetics, 2007