(Q30336138)

14 October 2017

0 references

Missense Mutations in hMLH1 and hMSH2 Are Associated with Exonic Splicing Enhancers (English)

1 reference

17 March 2024

1 reference

17 March 2024

4

Christopher I Amos

1 reference

14 October 2017

2

Olga Y Gorlova

1 reference

14 October 2017

1

Ivan P Gorlov

1 reference

14 October 2017

Marsha L. Frazier

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14526391

17 March 2024

Christopher I. Amos

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14526391

17 March 2024

language of work or name

English

0 references

publication date

1 October 2003

1 reference

PMC publication ID

1180494

full work available at URL

14 October 2017

http://www.cell.com/article/S0002929707619776/pdf

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14526391

https://europepmc.org/articles/PMC1180494

17 March 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14526391

https://europepmc.org/articles/PMC1180494?pdf=render

17 March 2024

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14526391

https://api.elsevier.com/content/article/PII:S0002929707619776?httpAccept=text/xml

17 March 2024

1 reference

https://api.elsevier.com/content/article/PII:S0002929707619776?httpAccept=text/plain

17 March 2024

1 reference

American Journal of Human Genetics

17 March 2024

published in

1 reference

14 October 2017

73

1 reference

14 October 2017

5

1 reference

14 October 2017

1157-1161

1 reference

Heterogeneous nuclear ribonucleoprotein particle A/B proteins and the control of alternative splicing of the mammalian heterogeneous nuclear ribonucleoprotein particle A1 pre-mRNA.

14 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180494

BRCA2 T2722R is a deleterious allele that causes exon skipping

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180494

Ratios of radical to conservative amino acid replacement are affected by mutational and compositional factors and may not be indicative of positive Darwinian selection

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180494

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180494

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180494

Alternative splicing of the adenylyl cyclase stimulatory G-protein G alpha(s) is regulated by SF2/ASF and heterogeneous nuclear ribonucleoprotein A1 (hnRNPA1) and involves the use of an unusual TG 3'-splice Site

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180494

Integrating mutation data and structural analysis of the TP53 tumor-suppressor protein

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180494

Pre-mRNA splicing in the new millennium

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180494

Sorting out the complexity of SR protein functions

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180494

Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180494

Exonic splicing enhancer motif recognized by human SC35 under splicing conditions

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180494

SR protein kinases: the splice of life

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180494

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180494

The IARC TP53 database: new online mutation analysis and recommendations to users

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180494

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180494

An exon splice enhancer mutation causes autosomal dominant GH deficiency

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/14526391

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutations predisposing to hereditary nonpolyposis colorectal cancer: Database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/14526391

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/378819

1 reference

14 October 2017

1 reference

PMC publication ID

1180494

14 October 2017

1 reference

PMC publication ID

1180494