The pathobiology of splicing (Q24634680)

Transcriptome sequencing to detect gene fusions in cancer

Europe PubMed Central

title

The pathobiology of splicing (English)

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Amanda J Ward

1

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author name string

Thomas A Cooper

series ordinal

2

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language of work or name

English

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publication date

January 2010

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published in

Journal of Pathology

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volume

220

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issue

2

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page(s)

152-63

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cites work

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Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy

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Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping

7 April 2017

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7 April 2017

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7 April 2017

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7 April 2017

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7 April 2017

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MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1

7 April 2017

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KLF6, a candidate tumor suppressor gene mutated in prostate cancer

7 April 2017

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Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9

7 April 2017

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Mutation spectrum of ATP7A, the gene defective in Menkes disease

7 April 2017

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Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase

21 January 2018

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7 April 2017

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Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

7 April 2017

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Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

7 April 2017

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Characterization of Heterogeneous Nuclear RNA-Protein Complexes In Vivo with Monoclonal Antibodies

7 April 2017

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Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

7 April 2017

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A postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heart

7 April 2017

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7 April 2017

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7 April 2017

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7 April 2017

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TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

7 April 2017

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7 April 2017

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7 April 2017

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7 April 2017

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A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

7 April 2017

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7 April 2017

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7 April 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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Tau exon 10 alternative splicing and tauopathies

27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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Cell motility is controlled by SF2/ASF through alternative splicing of the Ron protooncogene

27 September 2017

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27 September 2017

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Nova regulates brain-specific splicing to shape the synapse

27 September 2017

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27 September 2017

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KIT gene deletions at the intron 10-exon 11 boundary in GI stromal tumors

27 September 2017

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27 September 2017

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Pathways of apoptotic and non-apoptotic death in tumour cells

27 September 2017

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Krüppel-like factor 6 is frequently down-regulated and induces apoptosis in non-small cell lung cancer cells.

27 September 2017

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27 September 2017

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Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing

27 September 2017

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Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy

27 September 2017

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

27 September 2017

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Mechanism for elimination of a tumor suppressor: aberrant splicing of a brain-specific exon causes loss of function of Bin1 in melanoma.

27 September 2017

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A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.

27 September 2017

1 reference

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Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements

27 September 2017

1 reference

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BCL-X expression in multiple myeloma: possible indicator of chemoresistance

27 September 2017

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Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts

27 September 2017

1 reference

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27 September 2017

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27 September 2017

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Exon skipping and translation in patients with frameshift deletions in the dystrophin gene.

27 September 2017

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Myotonic dystrophy: another case of too many repeats?

27 September 2017

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27 September 2017

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

27 September 2017

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30 May 2018

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30 May 2018

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30 May 2018

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30 May 2018

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28 November 2018

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28 November 2018

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A Germline DNA Polymorphism Enhances Alternative Splicing of theKLF6Tumor Suppressor Gene and Is Associated with Increased Prostate Cancer Risk

28 November 2018

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28 November 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2855871

Cyclin-dependent kinase inhibition by the KLF6 tumor suppressor protein through interaction with cyclin D1.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2855871

Expression of splicing factors in human ovarian cancer.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2855871

Glycogen synthase kinase-3 plays a crucial role in tau exon 10 splicing and intranuclear distribution of SC35. Implications for Alzheimer's disease

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2855871

CDKN2A germline splicing mutation affecting both p16ink4 and p14arf RNA processing in a melanoma/neurofibroma kindred

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2855871

Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2855871

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2855871

Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy

28 November 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy

1 reference

12 December 2020

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

1 reference

12 December 2020

A comparison of the mutation spectra of Menkes disease and Wilson disease

1 reference

12 December 2020

A mutation-created novel intra-exonic pre-mRNA splice site causes constitutive activation of KIT in human gastrointestinal stromal tumors

1 reference

12 December 2020

Elongator, a Multisubunit Component of a Novel RNA Polymerase II Holoenzyme for Transcriptional Elongation

1 reference

12 December 2020

Overexpression of BCL-x protein in primary breast cancer is associated with high tumor grade and nodal metastases

1 reference

12 December 2020

An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN

1 reference

12 December 2020

Identifiers

DOI

10.1002/PATH.2649

1 reference

685999

685999

1 reference

1 reference

1 reference