(Q24540131)

English

Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing?

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scholarly article

1 reference

Europe PubMed Central

6 July 2017

Congenital end-plate acetylcholinesterase deficiency caused by a nonsense mutation and an A-->G splice-donor-site mutation at position +3 of the collagenlike-tail-subunit gene (COLQ): how does G at position +3 result in aberrant splicing? (English)

1 reference

Europe PubMed Central

6 July 2017

congenital disorder

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object named as

K Ohno

1

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author name string

J M Brengman

2

1 reference

Europe PubMed Central

6 July 2017

K J Felice

3

1 reference

Europe PubMed Central

6 July 2017

D R Cornblath

4

1 reference

Europe PubMed Central

6 July 2017

A G Engel

5

1 reference

Europe PubMed Central

6 July 2017

language of work or name

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publication date

1 September 1999

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Europe PubMed Central

6 July 2017

American Journal of Human Genetics

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Europe PubMed Central

6 July 2017

65

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Europe PubMed Central

6 July 2017

635-644

1 reference

Europe PubMed Central

6 July 2017

3

1 reference

Europe PubMed Central

6 July 2017

Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

24 March 2017

Human endplate acetylcholinesterase deficiency caused by mutations in the collagen-like tail subunit (ColQ) of the asymmetric enzyme

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

24 March 2017

Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

24 March 2017

Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

24 March 2017

Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

24 March 2017

Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

24 March 2017

The splicing factor BBP interacts specifically with the pre-mRNA branchpoint sequence UACUAAC.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

24 March 2017

Molecular and cellular biology of cholinesterases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

24 March 2017

Exon recognition in vertebrate splicing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

7 April 2017

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

7 April 2017

Genetic analysis of collagen Q: roles in acetylcholinesterase and butyrylcholinesterase assembly and in synaptic structure and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

27 September 2017

Statistical features of human exons and their flanking regions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

27 September 2017

Splicing mutants and their second-site suppressors at the dihydrofolate reductase locus in Chinese hamster ovary cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

27 September 2017

Polypurine sequences within a downstream exon function as a splicing enhancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

27 September 2017

Alternative splicing of beta-tropomyosin pre-mRNA: multiple cis-elements can contribute to the use of the 5'- and 3'-splice sites of the nonmuscle/smooth muscle exon 6.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

27 September 2017

Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

27 September 2017

Collagens: molecular biology, diseases, and potentials for therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

27 September 2017

An intronic (A/U)GGG repeat enhances the splicing of an alternative intron of the chicken beta-tropomyosin pre-mRNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

27 September 2017

Human growth hormone as a reporter gene in regulation studies employing transient gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

27 September 2017

Selection of splice sites in pre-mRNAs with short internal exons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

27 September 2017

Combinatorial splicing of exon pairs by two-site binding of U1 small nuclear ribonucleoprotein particle

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

27 September 2017

A new myasthenic syndrome with end-plate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

27 September 2017

Reported in vivo splice-site mutations in the factor IX gene: severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

30 May 2018

At least two receptors of asymmetric acetylcholinesterase are present at the synaptic basal lamina of Torpedo electric organ

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

30 May 2018

Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

30 May 2018

Quaternary associations of acetylcholinesterase. II. The polyproline attachment domain of the collagen tail

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

30 May 2018

Congenital endplate acetylcholinesterase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

30 May 2018

A novel splice donor mutation affecting position +3 in intron 6 of the factor VIII gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

30 May 2018

The binding of acetylcholine to receptors and its removal from the synaptic cleft

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

30 May 2018

Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

30 May 2018

RNA secondary structure repression of a muscle-specific exon in HeLa cell nuclear extracts.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

30 May 2018

Functional differences among nonerythroid anion exchangers expressed in a transfected human cell line

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

30 May 2018

A mutational analysis of the polypyrimidine tract of introns. Effects of sequence differences in pyrimidine tracts on splicing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

29 November 2018

The role of exon sequences in splice site selection.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377969

29 November 2018

Multiple forms of acetylcholinesterase and their distribution in endplate and non-endplate regions of rat diaphragm muscle

1 reference

https://pubmed.ncbi.nlm.nih.gov/10441569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cellular localization of the molecular forms of acetylcholinesterase in rat diaphragm

1 reference

https://pubmed.ncbi.nlm.nih.gov/10441569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The U1 small nuclear RNA-protein complex selectively binds a 5' splice site in vitro

1 reference

https://pubmed.ncbi.nlm.nih.gov/10441569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Folding of collagen IV

1 reference

https://pubmed.ncbi.nlm.nih.gov/10441569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Control of Alternative Splicing by the Differential Binding of U1 Small Nuclear Ribonucleoprotein Particle

1 reference

https://pubmed.ncbi.nlm.nih.gov/10441569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A cis-acting selector of a 5' splice site. Cooperation between the sequence of the site and an upstream exonic element

1 reference

https://pubmed.ncbi.nlm.nih.gov/10441569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Construction of a novel database containing aberrant splicing mutations of mammalian genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/10441569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterisation of inherited and sporadic mutations in neurofibromatosis type-1

1 reference

https://pubmed.ncbi.nlm.nih.gov/10441569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two heparin-binding domains are present on the collagenic tail of asymmetric acetylcholinesterase

1 reference

https://pubmed.ncbi.nlm.nih.gov/10441569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Systematic screening for RNA with skipped exons--splicing mutations of the ferrochelatase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/10441569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An A-to-G Mutation at the +3-Position of Intron-8 of the HEXA Gene Is Associated with Exon 8 Skipping and Tay-Sachs Disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/10441569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bimolecular exon ligation by the human spliceosome

1 reference

https://pubmed.ncbi.nlm.nih.gov/10441569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation producing alternative splicing of exon 26 in the COL1A2 gene causes type IV osteogenesis imperfecta with intrafamilial clinical variability

1 reference

https://pubmed.ncbi.nlm.nih.gov/10441569

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cooperation of pre-mRNA sequence elements in splice site selection

1 reference

https://api.crossref.org/works/10.1086%2F302551

7 January 2021

based on heuristic

inferred from DOI database lookup

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Europe PubMed Central

6 July 2017

OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Europe PubMed Central

6 July 2017

1 reference

Europe PubMed Central

6 July 2017

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