(Q73884535)

English

Characterization of the effects of mutations in the putative branchpoint sequence of intron 4 on the splicing within the human lecithin:cholesterol acyltransferase gene

scientific article published on 01 June 2000

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10849435%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

Characterization of the effects of mutations in the putative branchpoint sequence of intron 4 on the splicing within the human lecithin:cholesterol acyltransferase gene (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10849435%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

author name string

Li M

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10849435%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

Pritchard PH

2

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7 November 2019

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1 June 2000

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7 November 2019

Journal of Biological Chemistry

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7 November 2019

275

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7 November 2019

24

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7 November 2019

18079-18084

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7 November 2019

Dynamic RNA-RNA interactions in the spliceosome

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M910197199

21 January 2018

Initial splice-site recognition and pairing during pre-mRNA splicing

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M910197199

21 January 2018

Pre-mRNA splicing

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M910197199

21 January 2018

Splicing of messenger RNA precursors

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M910197199

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M910197199

21 January 2018

Splice-Site Mutations in Atherosclerosis Candidate Genes

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M910197199

21 January 2018

Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M910197199

21 January 2018

Genetic variation at a splicing branch point in intron 9 of the low density lipoprotein (LDL)-receptor gene: a rare mutation that disrupts mRNA splicing in a patient with familial hypercholesterolaemia and a common polymorphism

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M910197199

21 January 2018

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

https://api.crossref.org/works/10.1074%2FJBC.M910197199

21 January 2018

Recognition of the TACTAAC box during mRNA splicing in yeast involves base pairing to the U2-like snRNA.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M910197199

21 January 2018

Mammalian pre-mRNA branch site selection by U2 snRNP involves base pairing.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M910197199

21 January 2018

A compensatory base change in human U2 snRNA can suppress a branch site mutation

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M910197199

21 January 2018

Point mutations identify the conserved, intron-contained TACTAAC box as an essential splicing signal sequence in yeast

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M910197199

21 January 2018

Nonconsensus branch-site sequences in the in vitro splicing of transcripts of mutant rabbit beta-globin genes

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M910197199

21 January 2018

Intron sequences involved in lariat formation during pre-mRNA splicing.

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M910197199

21 January 2018

Cryptic branch point activation allows accurate in vitro splicing of human beta-globin intron mutants

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M910197199

21 January 2018

Interaction of U2AF65 RS region with pre-mRNA branch point and promotion of base pairing with U2 snRNA [corrected]

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M910197199

21 January 2018

Genetics of LCAT (lecithin: cholesterol acyltransferase) deficiency

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M910197199

21 January 2018

Human lecithin-cholesterol acyltransferase gene: complete gene sequence and sites of expression

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M910197199

21 January 2018

An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease).

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M910197199

21 January 2018

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

https://api.crossref.org/works/10.1074%2FJBC.M910197199

21 January 2018

Baboon lecithin cholesterol acyltransferase (LCAT): cDNA sequences of two alleles, evolution, and gene expression

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M910197199

21 January 2018

Cloning and expression of human lecithin-cholesterol acyltransferase cDNA

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M910197199

21 January 2018

Site-directed mutagenesis by overlap extension using the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M910197199

21 January 2018

[72] Identification of regulatory elements of cloned genes with functional assays

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M910197199

21 January 2018

The role of the mammalian branchpoint sequence in pre-mRNA splicing

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M910197199

21 January 2018

UACUAAC is the preferred branch site for mammalian mRNA splicing

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M910197199

21 January 2018

Molecular consequences of specific intron mutations on yeast mRNA splicing in vivo and in vitro

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M910197199

21 January 2018

The branchpoint residue is recognized during commitment complex formation before being bulged out of the U2 snRNA-pre-mRNA duplex

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M910197199

21 January 2018

Identifiers

10.1074/JBC.M910197199

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10849435%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10849435%20AND%20SRC:MED&resulttype=core&format=json

7 November 2019

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