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The missing puzzle piece: splicing mutations
scientific article
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instance of
scholarly article
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PubMed
title
The missing puzzle piece: splicing mutations
(English)
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stated in
PubMed
author name string
Lewandowska MA
series ordinal
1
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PubMed
language of work or name
English
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PubMed
publication date
2013
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PubMed
published in
International Journal of Clinical and Experimental Pathology
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volume
6
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PubMed
issue
12
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PubMed
page(s)
2675-82
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PubMed
cites work
DBASS3 and DBASS5: databases of aberrant 3'- and 5'-splice sites
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843248
retrieved
7 April 2017
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843248
retrieved
7 April 2017
The Sequence of the Human Genome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843248
retrieved
7 April 2017
A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843248
retrieved
7 April 2017
ESEfinder: A web resource to identify exonic splicing enhancers
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843248
retrieved
7 April 2017
Predictive identification of exonic splicing enhancers in human genes
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843248
retrieved
7 April 2017
Human epigenome data reveal increased CpG methylation in alternatively spliced sites and putative exonic splicing enhancers
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843248
retrieved
28 September 2017
Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843248
retrieved
28 September 2017
Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843248
retrieved
28 September 2017
Pre-mRNA splicing: life at the centre of the central dogma
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843248
retrieved
28 September 2017
A variable dinucleotide repeat in the CFTR gene contributes to phenotype diversity by forming RNA secondary structures that alter splicing
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843248
retrieved
28 September 2017
Splicing double: insights from the second spliceosome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843248
retrieved
28 September 2017
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
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843248
retrieved
28 September 2017
Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843248
retrieved
28 September 2017
Pre-mRNA splicing in the absence of an SR protein RS domain
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843248
retrieved
28 September 2017
Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843248
retrieved
28 September 2017
T-->G or T-->A mutation introduced in the branchpoint consensus sequence of intron 4 of lecithin:cholesterol acyltransferase (LCAT) gene: intron retention causing LCAT deficiency
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843248
retrieved
28 September 2017
A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843248
retrieved
28 September 2017
An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease).
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843248
retrieved
28 September 2017
Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843248
retrieved
28 September 2017
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843248
retrieved
28 September 2017
An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843248
retrieved
31 May 2018
Identification of twenty-one new mutations in the factor IX gene by SSCP analysis
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843248
retrieved
31 May 2018
Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843248
retrieved
28 November 2018
Aberrant splicing in the LMNA gene caused by a novel mutation on the polypyrimidine tract of intron 5
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843248
retrieved
28 November 2018
A KCNH2 branch point mutation causing aberrant splicing contributes to an explanation of genotype-negative long QT syndrome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843248
retrieved
28 November 2018
A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843248
retrieved
28 November 2018
Splicing-related catalysis by protein-free snRNAs
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843248
retrieved
28 November 2018
SR proteins escort the U4/U6.U5 tri-snRNP to the spliceosome
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3843248
retrieved
28 November 2018
Functional recognition of 5' splice site by U4/U6.U5 tri-snRNP defines a novel ATP-dependent step in early spliceosome assembly
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24294354
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Germline splicing mutations of CDKN2A predispose to melanoma
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24294354
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
The organization of 3' splice-site sequences in mammalian introns
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24294354
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Four Novel Cystic Fibrosis Mutations in Splice Junction Sequences Affecting the CFTR Nucleotide Binding Folds
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24294354
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
A Novel Mutation in the Cystic Fibrosis Gene in Patients with Pulmonary Disease but Normal Sweat Chloride Concentrations
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24294354
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Novel mutations in African American patients with glycogen storage disease Type II. Mutations in brief no. 209. Online
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24294354
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24294354
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Silent exonic mutation in the acid-alpha-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24294354
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Characterization of the effects of mutations in the putative branchpoint sequence of intron 4 on the splicing within the human lecithin:cholesterol acyltransferase gene
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/24294354
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
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3843248
1 reference
stated in
PubMed
PubMed ID
24294354
1 reference
stated in
PubMed
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