BRCA2 T2722R is a deleterious allele that causes exon skipping (Q37219028)

19 August 2017

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BRCA2 T2722R is a deleterious allele that causes exon skipping (English)

1 reference

19 August 2017

4

Olufunmilayo I Olopade

1 reference

19 August 2017

Adrian Robert Krainer

series ordinal

3

object named as

Adrian R Krainer

1 reference

19 August 2017

James D Fackenthal

1

1 reference

19 August 2017

Luca Cartegni

series ordinal

2

1 reference

19 August 2017

language of work or name

English

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publication date

19 July 2002

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American Journal of Human Genetics

19 August 2017

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19 August 2017

71

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19 August 2017

3

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19 August 2017

625-631

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

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379197

The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379197

Nonsense-mediated decay of mRNA for the selenoprotein phospholipid hydroperoxide glutathione peroxidase is detectable in cultured cells but masked or inhibited in rat tissues

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379197

Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379197

Exonic splicing enhancer motif recognized by human SC35 under splicing conditions

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379197

BRCA1 and BRCA2 in breast cancer families from Wales: moderate mutation frequency and two recurrent mutations in BRCA1

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379197

At least one intron is required for the nonsense-mediated decay of triosephosphate isomerase mRNA: a possible link between nuclear splicing and cytoplasmic translation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379197

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379197

Regulated tissue-specific expression of antagonistic pre-mRNA splicing factors.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379197

BRCA1 mutations and breast cancer in the general population: analyses in women before age 35 years and in women before age 45 years with first-degree family history

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379197

Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379197

Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379197

BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379197

The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379197

Evidence that translation reinitiation abrogates nonsense-mediated mRNA decay in mammalian cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379197

Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379197

When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379197

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379197

Splicing of messenger RNA precursors

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379197

The RNA binding protein YB-1 binds A/C-rich exon enhancers and stimulates splicing of the CD44 alternative exon v4.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379197

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379197

The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379197

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379197

A BRCA1 nonsense mutation causes exon skipping

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379197

Distinct functions of SR proteins in alternative pre-mRNA splicing.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379197

BRCA1 and BRCA2 mutation frequency in women evaluated in a breast cancer risk evaluation clinic

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379197

Risk models for familial ovarian and breast cancer

20 October 2018

1 reference

12 December 2020

An exon splice enhancer mutation causes autosomal dominant GH deficiency

1 reference

12 December 2020

A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17

1 reference

12 December 2020

BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer

1 reference

12 December 2020

Differential Contributions ofBRCA1andBRCA2to Early-Onset Breast Cancer

1 reference

12 December 2020

Identification of a 14 kb deletion involving the promoter region of BRCA1 in a breast cancer family

1 reference

12 December 2020

Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk

1 reference

12 December 2020

Population-based study of risk of breast cancer in carriers of BRCA2 mutation

1 reference

12 December 2020

The association of nonsense codons with exon skipping

1 reference

12 December 2020

Screening for germ-line rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions

1 reference

12 December 2020

Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations

1 reference

12 December 2020

Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer

1 reference

12 December 2020

Identification of a 3 kb Alu-mediated BRCA1 gene rearrangement in two breast/ovarian cancer families

1 reference

12 December 2020

Genetic testing for breast cancer susceptibility: frequency of BRCA1 and BRCA2 mutations

1 reference

12 December 2020

Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2. Australian Breast Cancer Family Study

1 reference

12 December 2020

Identifiers

DOI

10.1086/342192

1 reference

19 August 2017

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19 August 2017

1 reference