(Q47816362)

5 February 2018

title

Three novel types of splicing aberrations in the tuberous sclerosis TSC2 gene caused by mutations apart from splice consensus sequences (English)

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5 February 2018

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K Mayer

1

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5 February 2018

W Ballhausen

series ordinal

2

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5 February 2018

W Leistner

series ordinal

3

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5 February 2018

H Rott

series ordinal

4

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5 February 2018

publication date

1 November 2000

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5 February 2018

Biochimica et Biophysica Acta

published in

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5 February 2018

volume

1502

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5 February 2018

issue

3

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5 February 2018

page(s)

495-507

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5 February 2018

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34

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7 January 2021

Identification and characterization of the tuberous sclerosis gene on chromosome 16

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin

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7 January 2021

The human gene mutation database

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Optimal computer folding of large RNA sequences using thermodynamics and auxiliary information

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7 January 2021

The 216-nucleotide intron of the E1A pre-mRNA contains a hairpin structure that permits utilization of unusually distant branch acceptors

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

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7 January 2021

Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations

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7 January 2021

High rate of mosaicism in tuberous sclerosis complex

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7 January 2021

Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD

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7 January 2021

A new three allele polymorphism at distal 21q22.3, a region relatively devoid of polymorphic markers. Mutations in brief no. 212. Online

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7 January 2021

Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects

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7 January 2021

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

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7 January 2021

A G-->A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900072-7

7 January 2021

Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defects

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900072-7

7 January 2021

Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900072-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900072-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900072-7

7 January 2021

Construction of a novel database containing aberrant splicing mutations of mammalian genes

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900072-7

7 January 2021

Exon recognition in vertebrate splicing

1 reference

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7 January 2021

Tyrosinemia type 1--complex splicing defects and a missense mutation in the fumarylacetoacetase gene

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900072-7

7 January 2021

Two mutations remote from an exon/intron junction in the beta-hexosaminidase beta-subunit gene affect 3'-splice site selection and cause Sandhoff disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900072-7

7 January 2021

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900072-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900072-7

7 January 2021

Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900072-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900072-7

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900072-7

7 January 2021

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/10.1016%2FS0925-4439%2800%2900072-7

7 January 2021

AnEcoRV polymorphism in exon 40 of the tuberous sclerosis 2 (TSC2) gene

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900072-7

7 January 2021

Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900072-7

7 January 2021

RNA processing and clinical variability in neurofibromatosis type I (NF1)

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900072-7

7 January 2021

Phenotypic variability associated with 14 splice-site mutations in the NF2 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900072-7

7 January 2021

10.1016/S0925-4439(00)00072-7

Identifiers

DOI

1 reference

5 February 2018

1 reference

5 February 2018