(Q34013525)

30 July 2017

title

The dual effect of the lupus-associated polymorphism rs10516487 on BANK1 gene expression and protein localization (English)

1 reference

30 July 2017

author

Marta E Alarcón-Riquelme

series ordinal

3

1 reference

30 July 2017

S V Kozyrev

1

1 reference

30 July 2017

M Bernal-Quirós

series ordinal

2

1 reference

30 July 2017

C Castillejo-López

series ordinal

4

1 reference

30 July 2017

publication date

8 September 2011

1 reference

30 July 2017

1 reference

30 July 2017

volume

13

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30 July 2017

issue

2

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30 July 2017

page(s)

129-138

1 reference

describes a project that uses

30 July 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3291805/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus.

5 July 2018

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A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus

5 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291805

Association of BANK1 and TNFSF4 with systemic lupus erythematosus in Hong Kong Chinese

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291805

Replication of the BANK1 genetic association with systemic lupus erythematosus in a European-derived population

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291805

Combinatorial control of exon recognition.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291805

BANK negatively regulates Akt activation and subsequent B cell responses

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291805

Somatic mosaicism in a male with an exon skipping mutation in PDHA1 of the pyruvate dehydrogenase complex results in a milder phenotype

5 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291805

Distribution of SR protein exonic splicing enhancer motifs in human protein-coding genes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291805

The switch in alternative splicing of cyclic AMP-response element modulator protein CREM{tau}2{alpha} (activator) to CREM{alpha} (repressor) in human myometrial cells is mediated by SRp40.

5 July 2018

1 reference

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Understanding alternative splicing: towards a cellular code

5 July 2018

1 reference

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Serine/arginine-rich protein-dependent suppression of exon skipping by exonic splicing enhancers

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291805

Genomic variants in exons and introns: identifying the splicing spoilers

5 July 2018

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A functional domain of Dof that is required for fibroblast growth factor signaling

5 July 2018

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5 July 2018

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Listening to silence and understanding nonsense: exonic mutations that affect splicing

5 July 2018

1 reference

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

5 July 2018

1 reference

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BANK regulates BCR-induced calcium mobilization by promoting tyrosine phosphorylation of IP(3) receptor

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291805

BCAP: the tyrosine kinase substrate that connects B cell receptor to phosphoinositide 3-kinase activation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291805

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291805

Sorting out the complexity of SR protein functions

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291805

Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291805

Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291805

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291805

Identification of functional exonic splicing enhancer motifs recognized by individual SR proteins

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291805

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291805

Pre-mRNA splicing by complementation with purified human U1, U2, U4/U6 and U5 snRNPs

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291805

Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus

5 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2011.62

Isolation of proteins that interact with the signal transduction molecule Dof and identification of a functional domain conserved between Dof and vertebrate BCAP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2011.62

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2011.62

New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2011.62

Protein phosphorylation and kinome profiling reveal altered regulation of multiple signaling pathways in B lymphocytes from patients with systemic lupus erythematosus

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2011.62

Aggregate formation and synaptic abnormality induced by DSCR1.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291805

Genome-wide association mapping identifies multiple loci for a canine SLE-related disease complex

29 October 2018

1 reference

https://api.crossref.org/works/10.1038%2FGENE.2011.62

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

21 January 2018

1 reference

12 December 2020

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

12 December 2020

Branch site haplotypes that control alternative splicing

1 reference

12 December 2020

Distribution of exonic splicing enhancer elements in human genes

1 reference

12 December 2020

Overexpression of SR proteins and splice variants modulates chondrogenesis

1 reference

12 December 2020

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

12 December 2020

A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder

1 reference

12 December 2020

Alternative splicing during chondrogenesis: Modulation of fibronectin exon EIIIA splicing by SR proteins

1 reference

12 December 2020

Identifiers

DOI

10.1038/GENE.2011.62

1 reference

Dimensions Publication ID

30 July 2017

0 references

1 reference

30 July 2017

1 reference