(Q40745220)

23 September 2017

A new type of mutation causes a splicing defect in ATM. (English)

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23 September 2017

2

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23 September 2017

Thilo Dörk

5

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Cristiana Stuani

series ordinal

3

object named as

Cristiana Stuani

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23 September 2017

Franco Pagani

1

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23 September 2017

Regina Bendix

series ordinal

4

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23 September 2017

Francisco E Baralle

series ordinal

6

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23 September 2017

language of work or name

English

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publication date

11 March 2002

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23 September 2017

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23 September 2017

30

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23 September 2017

426-429

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23 September 2017

4

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https://scigraph.springernature.com/pub.10.1038/ng858

23 September 2017

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cites work

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

1 reference

7 January 2021

A point mutation in the human estrogen receptor gene is associated with the expression of an abnormal estrogen receptor mRNA containing a 69 novel nucleotide insertion

1 reference

7 January 2021

A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations

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7 January 2021

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

1 reference

7 January 2021

The genetic defect in ataxia-telangiectasia

1 reference

7 January 2021

A compensatory base change in U1 snRNA suppresses a 5' splice site mutation

1 reference

7 January 2021

Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping

1 reference

7 January 2021

The HIV-1 5' LTR poly(A) site is inactivated by U1 snRNP interaction with the downstream major splice donor site.

1 reference

7 January 2021

Regulation of alternative polyadenylation by U1 snRNPs and SRp20.

1 reference

7 January 2021

U1 snRNP inhibits pre-mRNA polyadenylation through a direct interaction between U1 70K and poly(A) polymerase.

1 reference

7 January 2021

Association with terminal exons in pre-mRNAs: a new role for the U1 snRNP?

1 reference

7 January 2021

The mechanism of somatic inhibition of Drosophila P-element pre-mRNA splicing: multiprotein complexes at an exon pseudo-5' splice site control U1 snRNP binding

1 reference

7 January 2021

Modulation of P-element pre-mRNA splicing by a direct interaction between PSI and U1 snRNP 70K protein.

1 reference

7 January 2021

An intronic splicing enhancer binds U1 snRNPs to enhance splicing and select 5' splice sites

1 reference

7 January 2021

U1 small nuclear RNA-promoted exon selection requires a minimal distance between the position of U1 binding and the 3' splice site across the exon

1 reference

7 January 2021

Generation of alternative Ultrabithorax isoforms and stepwise removal of a large intron by resplicing at exon-exon junctions.

1 reference

7 January 2021

Dual utilization of an acceptor/donor splice site governs the alternative splicing of the IRF-3 gene

1 reference

7 January 2021

Multiple splicing defects in an intronic false exon

1 reference

7 January 2021

Human genomic sequences that inhibit splicing

1 reference

7 January 2021

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

1 reference

7 January 2021

Splicing Factors Induce Cystic Fibrosis Transmembrane Regulator Exon 9 Skipping through a Nonevolutionary Conserved Intronic Element

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG858

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Dimensions Publication ID

23 September 2017

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1 reference