(Q73111324)

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Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects

scientific article published on 01 January 1999

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scholarly article

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1 November 2019

Mutation screening of the entire coding regions of the TSC1 and the TSC2 gene with the protein truncation test (PTT) identifies frequent splicing defects (English)

1 reference

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1 November 2019

author name string

Mayer K

1

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1 November 2019

Ballhausen W

2

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1 November 2019

Rott HD

3

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1 November 2019

publication date

1 January 1999

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1 November 2019

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1 November 2019

14

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401-411

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1 November 2019

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1 November 2019

Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.

1 reference

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21 January 2018

Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients

1 reference

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21 January 2018

Multiple products in the protein truncation test due to alternative splicing in the adenomatous polyposis coli (APC) gene.

1 reference

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21 January 2018

Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability

1 reference

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21 January 2018

Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis

1 reference

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21 January 2018

Rapid identification of RT-PCR clones containing translation-terminating mutations

1 reference

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21 January 2018

Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome

1 reference

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21 January 2018

Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene

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21 January 2018

Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas

1 reference

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21 January 2018

Identification and characterization of the tuberous sclerosis gene on chromosome 16

1 reference

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21 January 2018

A complete protein truncation test for BRCA1 and BRCA2.

1 reference

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21 January 2018

Phenotypes of the tuberous sclerosis complex with a revision of diagnostic criteria

1 reference

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21 January 2018

The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor

1 reference

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21 January 2018

Interrelationships of the pathways of mRNA decay and translation in eukaryotic cells

1 reference

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21 January 2018

Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis

1 reference

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21 January 2018

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance

1 reference

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21 January 2018

Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene

1 reference

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21 January 2018

Role of the tuberous sclerosis gene-2 product in cell cycle control. Loss of the tuberous sclerosis gene-2 induces quiescent cells to enter S phase

1 reference

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21 January 2018

A role of the tuberous sclerosis gene-2 product during neuronal differentiation

1 reference

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21 January 2018

Inactivation of the cyclin-dependent kinase inhibitor p27 upon loss of the tuberous sclerosis complex gene-2

1 reference

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21 January 2018

Binary specification of nonsense codons by splicing and cytoplasmic translation

1 reference

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21 January 2018

Mutations in the TSC2 gene: analysis of the complete coding sequence using the protein truncation test (PTT).

1 reference

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21 January 2018

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

1 reference

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21 January 2018

Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products

1 reference

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21 January 2018

Identification of tuberin, the tuberous sclerosis-2 product. Tuberin possesses specific Rap1GAP activity

1 reference

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21 January 2018

Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.

1 reference

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21 January 2018

The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis

1 reference

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21 January 2018

Identifiers

10.1002/(SICI)1098-1004(199911)14:5<401::AID-HUMU6>3.0.CO;2-R

0 references

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10533066%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

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