(Q88431812)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29680930%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

2 references

6 November 2020

19 November 2020

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

1 reference

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24 March 2020

1 reference

6 November 2020

DNA mutational analysis

1 reference

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

19 November 2020

corrigendum / erratum

0 references

author

Monika Gos

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29680930%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

author name string

Abramowicz Anna

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29680930%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

publication date

21 April 2018

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29680930%20AND%20SRC:MED&resulttype=core&format=json

Journal of Applied Genetics

24 March 2020

1 August 2018

2 references

6 November 2020

19 November 2020

3 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29680930%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

6 November 2020

19 November 2020

59

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29680930%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29680930%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

page(s)

253-268

1 reference

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Creative Commons Attribution 4.0 International

24 March 2020

copyright license

2 references

6 November 2020

Prediction of human mRNA donor and acceptor sites from the DNA sequence.

19 November 2020

cites work

1 reference

12 December 2020

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1 reference

12 December 2020

Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information

1 reference

12 December 2020

Prediction of complete gene structures in human genomic DNA

1 reference

12 December 2020

Analysis of donor splice sites in different eukaryotic organisms.

1 reference

12 December 2020

Improved splice site detection in Genie

1 reference

12 December 2020

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia

1 reference

12 December 2020

GeneSplicer: a new computational method for splice site prediction

1 reference

12 December 2020

A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition.

1 reference

12 December 2020

Polypyrimidine tract binding protein antagonizes exon definition

1 reference

12 December 2020

Splicing regulation as a potential genetic modifier

1 reference

12 December 2020

Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1.

1 reference

12 December 2020

Alternative splicing: multiple control mechanisms and involvement in human disease

1 reference

12 December 2020

Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

12 December 2020

Predictive identification of exonic splicing enhancers in human genes

1 reference

12 December 2020

Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I

1 reference

12 December 2020

Nonsense-associated altered splicing: a frame-dependent response distinct from nonsense-mediated decay

1 reference

12 December 2020

Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.

1 reference

12 December 2020

Pre-mRNA splicing and human disease

1 reference

12 December 2020

Mfold web server for nucleic acid folding and hybridization prediction

1 reference

12 December 2020

Pfold: RNA secondary structure prediction using stochastic context-free grammars

1 reference

12 December 2020

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

12 December 2020

Transcript analysis of the cystic fibrosis splicing mutation 1525-1G>A shows use of multiple alternative splicing sites and suggests a putative role of exonic splicing enhancers.

1 reference

12 December 2020

Gene structure prediction from consensus spliced alignment of multiple ESTs matching the same genomic locus.

1 reference

12 December 2020

Comparative analysis detects dependencies among the 5' splice-site positions

1 reference

12 December 2020

Computational definition of sequence motifs governing constitutive exon splicing.

1 reference

12 December 2020

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

1 reference

12 December 2020

Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation

1 reference

12 December 2020

Factor IX polypyrimidine tract mutation analysis using mRNA from peripheral blood leukocytes

1 reference

12 December 2020

Systematic identification and analysis of exonic splicing silencers.

1 reference

12 December 2020

Alternative splicing induced by nonsense mutations in the immunoglobulin mu VDJ exon is independent of truncation of the open reading frame

1 reference

12 December 2020

Human-mouse comparative analysis reveals that branch-site plasticity contributes to splicing regulation

1 reference

12 December 2020

Splicing in action: assessing disease causing sequence changes

1 reference

12 December 2020

Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2.

1 reference

12 December 2020

Comparative analysis identifies exonic splicing regulatory sequences--The complex definition of enhancers and silencers

1 reference

12 December 2020

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers

1 reference

12 December 2020

Minigene reporter for identification and analysis of cis elements and trans factors affecting pre-mRNA splicing

1 reference

12 December 2020

Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia

1 reference

12 December 2020

Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing.

1 reference

12 December 2020

Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5' splice-site disruption.

1 reference

12 December 2020

SplicePort--an interactive splice-site analysis tool

1 reference

12 December 2020

The protein truncation test in mutation detection and molecular diagnosis

1 reference

12 December 2020

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

1 reference

12 December 2020

hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing

1 reference

12 December 2020

RNA-binding proteins and post-transcriptional gene regulation

1 reference

12 December 2020

RNA landscape of evolution for optimal exon and intron discrimination

1 reference

12 December 2020

SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing

1 reference

12 December 2020

Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations

1 reference

12 December 2020

Alternative splicing and disease

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The pathobiology of splicing

1 reference

12 December 2020

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

1 reference

12 December 2020

Incidence of spinal muscular atrophy in Poland--more frequent than predicted?

1 reference

12 December 2020

Functional diversity of the hnRNPs: past, present and perspectives

1 reference

12 December 2020

Genome-wide association between branch point properties and alternative splicing

1 reference

12 December 2020

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

1 reference

12 December 2020

A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Kinetin improves IKBKAP mRNA splicing in patients with familial dysautonomia

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The significant other: splicing by the minor spliceosome

1 reference

12 December 2020

Molecular basis of two-exon skipping (exons 12 and 13) by c.1248+5g>a in OXCT1 gene: study on intermediates of OXCT1 transcripts in fibroblasts

1 reference

12 December 2020

The missing puzzle piece: splicing mutations

1 reference

12 December 2020

A novel donor splice-site mutation of major intrinsic protein gene associated with congenital cataract in a Chinese family

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases

1 reference

12 December 2020

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

1 reference

12 December 2020

Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions

1 reference

12 December 2020

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

1 reference

12 December 2020

Genomic HEXploring allows landscaping of novel potential splicing regulatory elements.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis

1 reference

12 December 2020

Mechanisms and Regulation of Alternative Pre-mRNA Splicing

1 reference

12 December 2020

RNA-Binding Proteins: Splicing Factors and Disease

1 reference

12 December 2020

Defective control of pre-messenger RNA splicing in human disease

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Deep intronic mutations and human disease

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Nusinersen for the treatment of spinal muscular atrophy.

1 reference

12 December 2020

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

1 reference

12 December 2020

Alternative Splicing in Genetic Diseases: Improved Diagnosis and Novel Treatment Options

1 reference

12 December 2020

10.1007/S13353-018-0444-7

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29680930%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29680930%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

1 reference