(Q81168138)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15608654%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

title

An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites (English)

1 reference

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6 January 2020

main subject

Peutz-Jeghers syndrome

1 reference

2

1 reference

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6 January 2020

Alessandro Stella

4

1 reference

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6 January 2020

Adrian Robert Krainer

6

1 reference

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6 January 2020

Michelle L Hastings

1

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author name string

Daniel Traum

3

1 reference

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6 January 2020

Ginevra Guanti

5

1 reference

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6 January 2020

publication date

19 December 2004

1 reference

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Nature Structural & Molecular Biology

6 January 2020

published in

1 reference

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6 January 2020

volume

12

1 reference

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6 January 2020

issue

1

1 reference

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6 January 2020

page(s)

54-59

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https://scigraph.springernature.com/pub.10.1038/nsmb873

6 January 2020

exact match

0 references

cites work

LKB1--a master tumour suppressor of the small intestine and beyond

1 reference

Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome.

31 March 2020

1 reference

A serine/threonine kinase gene defective in Peutz-Jeghers syndrome

31 March 2020

1 reference

Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase

31 March 2020

1 reference

Loss of the Lkb1 tumour suppressor provokes intestinal polyposis but resistance to transformation

31 March 2020

1 reference

The tumor suppressor LKB1 kinase directly activates AMP-activated kinase and regulates apoptosis in response to energy stress

31 March 2020

1 reference

LKB1 is a master kinase that activates 13 kinases of the AMPK subfamily, including MARK/PAR-1

31 March 2020

1 reference

Regulation of the TSC pathway by LKB1: evidence of a molecular link between tuberous sclerosis complex and Peutz-Jeghers syndrome

31 March 2020

1 reference

Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients.

31 March 2020

1 reference

Pre-mRNA splicing in the new millennium

31 March 2020

1 reference

Splicing double: insights from the second spliceosome

31 March 2020

1 reference

A computational scan for U12-dependent introns in the human genome sequence

31 March 2020

1 reference

Analysis of canonical and non-canonical splice sites in mammalian genomes

31 March 2020

1 reference

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

31 March 2020

1 reference

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

31 March 2020

1 reference

Intrinsic differences between authentic and cryptic 5' splice sites

31 March 2020

1 reference

Functions of SR proteins in the U12-dependent AT-AC pre-mRNA splicing pathway.

31 March 2020

1 reference

Normal and mutant human β-globin pre-mRNAs are faithfully and efficiently spliced in vitro

31 March 2020

1 reference

Initial recognition of U12-dependent introns requires both U11/5' splice-site and U12/branchpoint interactions

31 March 2020

1 reference

The human 18S U11/U12 snRNP contains a set of novel proteins not found in the U2-dependent spliceosome

31 March 2020

1 reference

Branchpoint selection in the splicing of U12-dependent introns in vitro

31 March 2020

1 reference

Terminal intron dinucleotide sequences do not distinguish between U2- and U12-dependent introns

31 March 2020

1 reference

Role of the 3' splice site in U12-dependent intron splicing

31 March 2020

1 reference

Allele-specific genetic interactions between Prp8 and RNA active site residues suggest a function for Prp8 at the catalytic core of the spliceosome.

31 March 2020

1 reference

Functional interactions of Prp8 with both splice sites at the spliceosomal catalytic center

31 March 2020

1 reference

The human Prp8 protein is a component of both U2- and U12-dependent spliceosomes

31 March 2020

1 reference

AT-AC pre-mRNA splicing mechanisms and conservation of minor introns in voltage-gated ion channel genes

31 March 2020

1 reference

Evolutionary fates and origins of U12-type introns.

31 March 2020

1 reference

Categorization and characterization of transcript-confirmed constitutively and alternatively spliced introns and exons from human

31 March 2020

1 reference

The divergent U12-type spliceosome is required for pre-mRNA splicing and is essential for development in Drosophila

31 March 2020

1 reference

Mutation detection in the med and medJ alleles of the sodium channel Scn8a. Unusual splicing due to a minor class AT-AC intron

31 March 2020

1 reference

Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4

31 March 2020

1 reference

Splice junctions, branch point sites, and exons: sequence statistics, identification, and applications to genome project

31 March 2020

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NSMB873

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15608654%20AND%20SRC:MED&resulttype=core&format=json

6 January 2020

1 reference