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New connections between splicing and human disease
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scholarly article
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stated in
PubMed
title
New connections between splicing and human disease
(English)
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author
Richard A Padgett
object named as
Richard A. Padgett
series ordinal
1
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language of work or name
English
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stated in
PubMed
publication date
April 2012
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stated in
PubMed
published in
Trends in Genetics
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stated in
PubMed
volume
28
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stated in
PubMed
issue
4
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stated in
PubMed
page(s)
147-54
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stated in
PubMed
cites work
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I
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=3319163
retrieved
21 March 2017
Mutations in the pre-replication complex cause Meier-Gorlin 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=3319163
retrieved
21 March 2017
The U2AF35-related protein Urp contacts the 3' splice site to promote U12-type intron splicing and the second step of U2-type intron 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=3319163
retrieved
21 March 2017
The pathobiology of 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=3319163
retrieved
21 March 2017
Binding of the human Prp31 Nop domain to a composite RNA-protein platform in U4 snRNP
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=3319163
retrieved
21 March 2017
U12DB: a database of orthologous U12-type spliceosomal introns
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=3319163
retrieved
21 March 2017
RNA structural requirements for the association of the spliceosomal hPrp31 protein with the U4 and U4atac small nuclear ribonucleoproteins
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=3319163
retrieved
21 March 2017
A reappraisal of non-consensus mRNA 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=3319163
retrieved
21 March 2017
Spliced segments at the 5′ terminus of adenovirus 2 late mRNA
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=3319163
retrieved
21 March 2017
Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts
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=3319163
retrieved
21 March 2017
Alternative isoform regulation in human tissue transcriptomes
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=3319163
retrieved
21 March 2017
The spliceosome: design principles of a dynamic RNP machine
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=3319163
retrieved
21 March 2017
A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel 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=3319163
retrieved
21 March 2017
Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA
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=3319163
retrieved
21 March 2017
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism
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=3319163
retrieved
21 March 2017
An early evolutionary origin for the minor 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=3319163
retrieved
21 March 2017
Splicing of a rare class of introns by the U12-dependent 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=3319163
retrieved
21 March 2017
A novel spliceosome containing U11, U12, and U5 snRNPs excises a minor class (AT-AC) intron in vitro
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=3319163
retrieved
21 March 2017
Requirement of U12 snRNA for in vivo splicing of a minor class of eukaryotic nuclear pre-mRNA introns
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=3319163
retrieved
21 March 2017
Conserved sequences in a class of rare eukaryotic nuclear introns with non-consensus 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=3319163
retrieved
21 March 2017
Pre-mRNA splicing: awash in a sea of proteins
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=3319163
retrieved
7 April 2017
Identification and characterization of a spinal muscular atrophy-determining gene
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=3319163
retrieved
7 April 2017
Frequent pathway mutations of splicing machinery in myelodysplasia
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=3319163
retrieved
7 April 2017
RNA and 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=3319163
retrieved
7 April 2017
SF3B1 and other novel cancer genes in chronic lymphocytic leukemia
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=3319163
retrieved
28 September 2017
The spliceosome as an indicted conspirator in myeloid malignancies
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=3319163
retrieved
28 September 2017
Mechanisms and pathways of growth failure in primordial dwarfism.
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=3319163
retrieved
28 September 2017
Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene
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=3319163
retrieved
28 September 2017
Loss of exon identity is a common mechanism of human inherited 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=3319163
retrieved
28 September 2017
The spliceosomal proteome: at the heart of the largest cellular ribonucleoprotein machine
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=3319163
retrieved
28 September 2017
Gene expression profiling of U12-type spliceosome mutant Drosophila reveals widespread changes in metabolic pathways
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=3319163
retrieved
28 September 2017
U12 type introns were lost at multiple occasions during evolution
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=3319163
retrieved
28 September 2017
SR proteins and related factors in alternative 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=3319163
retrieved
28 September 2017
Deciphering the assembly pathway of Sm-class U snRNPs
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=3319163
retrieved
28 September 2017
Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling
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=3319163
retrieved
28 September 2017
Splicing in disease: disruption of the splicing code and the decoding machinery
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=3319163
retrieved
28 September 2017
Pre-mRNA splicing and retinitis pigmentosa
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=3319163
retrieved
28 September 2017
The abundance of the spliceosomal snRNPs is not limiting the splicing of U12-type introns
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=3319163
retrieved
28 September 2017
Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway.
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=3319163
retrieved
28 September 2017
Multiple links between transcription and 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=3319163
retrieved
28 September 2017
Diversity of vertebrate splicing factor U2AF35: identification of alternatively spliced U2AF1 mRNAS.
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=3319163
retrieved
28 September 2017
Human U4/U6.U5 and U4atac/U6atac.U5 tri-snRNPs exhibit similar protein compositions
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=3319163
retrieved
28 September 2017
A computational scan for U12-dependent introns in the human genome sequence
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=3319163
retrieved
28 September 2017
Evolutionary fates and origins of U12-type introns.
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=3319163
retrieved
28 September 2017
An amazing sequence arrangement at the 5' ends of adenovirus 2 messenger RNA.
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=3319163
retrieved
28 September 2017
Reduced fidelity of branch point recognition and alternative splicing induced by the anti-tumor drug spliceostatin A
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=3319163
retrieved
31 May 2018
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin 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=3319163
retrieved
31 May 2018
Identification of both shared and distinct proteins in the major and minor spliceosomes
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=3319163
retrieved
31 May 2018
Overexpression of the SR proteins ASF/SF2 and SC35 influences alternative splicing in vivo in diverse ways
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=3319163
retrieved
31 May 2018
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin 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=3319163
retrieved
28 November 2018
SF3B1, a splicing factor is frequently mutated in refractory anemia with ring sideroblasts
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22397991
retrieved
12 December 2020
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Identifiers
DOI
10.1016/J.TIG.2012.01.001
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
199051
OpenCitations bibliographic resource ID
199051
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
199051
PMC publication ID
3319163
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
199051
PubMed publication ID
22397991
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
199051
ResearchGate publication ID
221684635
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