Splicing mutations in human genetic disorders: examples, detection, and confirmation

Nusinersen for the treatment of spinal muscular atrophy

(2017) Claudia A. Chiriboga   Expert Review of Neurotherapeutics

Deep intronic mutations and human disease

(2017) Rita Vaz-Drago et al.   HUMAN GENETICS

Mutations of Pre-mRNA Splicing Regulatory Elements: Are Predictions Moving Forward to Clinical Diagnostics?

(2017) Lucie Grodecká et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

A novel mutation (c.121-13T>A) in the polypyrimidine tract of the splice acceptor site of intron 2 causes exon 3 skipping in mitochondrial acetoacetyl-CoA thiolase gene

(2017) Yuka Aoyama et al.   Molecular Medicine Reports

Rules and tools to predict the splicing effects of exonic and intronic mutations

(2017) Kinji Ohno et al.   Wiley Interdisciplinary Reviews-RNA

Nusinersen for the treatment of spinal muscular atrophy

(2017) Claudia A. Chiriboga   Expert Review of Neurotherapeutics

Cas9/gRNA targeted excision of cystic fibrosis-causing deep-intronic splicing mutations restores normal splicing of CFTR mRNA

(2017) David J. Sanz et al.   PLoS One

The hnRNP family: insights into their role in health and disease

(2016) Thomas Geuens et al.   HUMAN GENETICS

Defective control of pre–messenger RNA splicing in human disease

(2016) Benoit Chabot et al.   JOURNAL OF CELL BIOLOGY

IntSplice: prediction of the splicing consequences of intronic single-nucleotide variations in the human genome

(2016) Akihide Shibata et al.   JOURNAL OF HUMAN GENETICS

The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer

(2016) Bruno Palhais et al.   MOLECULAR GENETICS AND METABOLISM

Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene

(2016) Johanna Känsäkoski et al.   Scientific Reports

Mechanisms and Regulation of Alternative Pre-mRNA Splicing

(2015) Yeon Lee et al.   Annual Review of Biochemistry

Antisense-mediated exon skipping: Taking advantage of a trick from Mother Nature to treat rare genetic diseases

(2014) Marcel Veltrop et al.   EXPERIMENTAL CELL RESEARCH

Experimental Assessment of Splicing Variants Using Expression Minigenes and Comparison with In Silico Predictions

(2014) Neeraj Sharma et al.   HUMAN MUTATION

Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing

(2014) WEIHONG XU et al.   INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE

A comprehensive survey of non-canonical splice sites in the human transcriptome

(2014) Guillermo E. Parada et al.   NUCLEIC ACIDS RESEARCH

In silico prediction of splice-altering single nucleotide variants in the human genome

(2014) Xueqiu Jian et al.   NUCLEIC ACIDS RESEARCH

Genomic HEXploring allows landscaping of novel potential splicing regulatory elements

(2014) Steffen Erkelenz et al.   NUCLEIC ACIDS RESEARCH

The human splicing code reveals new insights into the genetic determinants of disease

(2014) H. Y. Xiong et al.   SCIENCE

Exon-Skipping Antisense Oligonucleotides to Correct Missplicing in Neurogenetic Diseases

(2014) Kavitha Siva et al.   Nucleic Acid Therapeutics

Exon identity crisis: disease-causing mutations that disrupt the splicing code

(2014) Timothy Sterne-Weiler et al.   GENOME BIOLOGY

Spliceman--a computational web server that predicts sequence variations in pre-mRNA splicing

(2012) K. H. Lim et al.   BIOINFORMATICS

Newborn screening for cystic fibrosis: Polish 4 years’ experience with CFTR sequencing strategy

(2012) Agnieszka Sobczyńska-Tomaszewska et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Molecular Basis of Two-Exon Skipping (Exons 12 and 13) by c.1248+5g>a inOXCT1Gene: Study on Intermediates ofOXCT1Transcripts in Fibroblasts

(2012) Tomohiro Hori et al.   HUMAN MUTATION

Enhancers and silencers: an integrated and simple model for their function

(2012) Petros Kolovos et al.   Epigenetics & Chromatin

The significant other: splicing by the minor spliceosome

(2012) Janne J. Turunen et al.   Wiley Interdisciplinary Reviews-RNA

Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes

(2011) Jean Christophe Théry et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6

(2011) Michela Raponi et al.   HUMAN MUTATION

SpliceAid 2: A database of human splicing factors expression data and RNA target motifs

(2011) Francesco Piva et al.   HUMAN MUTATION

Kinetin Improves IKBKAP mRNA Splicing in Patients With Familial Dysautonomia

(2011) Felicia B Axelrod et al.   PEDIATRIC RESEARCH

A Novel Splice Variant in the N-propeptide of COL5A1 Causes an EDS Phenotype with Severe Kyphoscoliosis and Eye Involvement

(2011) Sofie Symoens et al.   PLoS One

Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes

(2011) K. H. Lim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Functional diversity of the hnRNPs: past, present and perspectives

(2010) Siew Ping Han et al.   BIOCHEMICAL JOURNAL

Incidence of Spinal Muscular Atrophy in Poland – More Frequent than Predicted?

(2010) Maria Jedrzejowska et al.   NEUROEPIDEMIOLOGY

Genome-Wide Association between Branch Point Properties and Alternative Splicing

(2010) André Corvelo et al.   PLoS Computational Biology

Ab initio prediction of mutation-induced cryptic splice-site activation and exon skipping

(2009) Petr Divina et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations

(2009) Eva Pros et al.   HUMAN MUTATION

XPCbranch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients

(2009) Sikandar G. Khan et al.   HUMAN MUTATION

Mechanisms of alternative splicing regulation: insights from molecular and genomics approaches

(2009) Mo Chen et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

SROOGLE: webserver for integrative, user-friendly visualization of splicing signals

(2009) S. Schwartz et al.   NUCLEIC ACIDS RESEARCH

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Alternative splicing and disease

(2008) Jamal Tazi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

SMN Deficiency Causes Tissue-Specific Perturbations in the Repertoire of snRNAs and Widespread Defects in Splicing

(2008) Zhenxi Zhang et al.   CELL

Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (IVS4+1A>G) of SEDL causes variable splicing isoforms in X-linked spondyloepiphyseal dysplasia tarda

(2008) Feng Xiong et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

RNA-binding proteins and post-transcriptional gene regulation

(2008) Tina Glisovic et al.   FEBS LETTERS

Nature and mRNA effect of 282 differentNF1point mutations: focus on splicing alterations

(2008) Eva Pros et al.   HUMAN MUTATION

In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G->A mutations in introns of the dystrophin gene

(2008) Y Habara et al.   JOURNAL OF MEDICAL GENETICS

RNA landscape of evolution for optimal exon and intron discrimination

(2008) C. Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Missense and nonsense mutations in the alternatively-spliced exon 2 ofCOL2A1cause the ocular variant of Stickler syndrome

(2007) Audrey McAlinden et al.   HUMAN MUTATION