(Q79080728)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14508519%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

title

Germline splicing mutations of CDKN2A predispose to melanoma (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14508519%20AND%20SRC:MED&resulttype=core&format=json

genetic predisposition to disease

19 December 2019

main subject

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14508519

alternative mRNA splicing, via spliceosome

14 March 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14508519

14 March 2024

1 reference

https://api.crossref.org/works/10.1038/SJ.ONC.1206736

14 March 2024

1

Joanne C. Y. Loo

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14508519

14 March 2024

13

Jeffrey Weitzel

1 reference

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14 March 2024

author name string

Ling Liu

2

1 reference

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19 December 2019

AiHua Hao

3

1 reference

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19 December 2019

LuZhuang Gao

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14508519%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Ron Agatep

5

1 reference

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19 December 2019

Michael Shennan

6

1 reference

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19 December 2019

Anne Summers

7

1 reference

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19 December 2019

Carolyn Deters

10

1 reference

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19 December 2019

Ramon Fusaro

11

1 reference

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19 December 2019

Kathleen Blazer

12

1 reference

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19 December 2019

Norman Lassam

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14508519%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

Henry Lynch

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14508519%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

David Hogg

16

1 reference

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19 December 2019

Alisa M. Goldstein

8

1 reference

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14 March 2024

Margaret A. Tucker

9

1 reference

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14 March 2024

language of work or name

English

0 references

publication date

1 September 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14508519%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

25 September 2003

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14508519

full work available at URL

14 March 2024

https://www.nature.com/articles/1206736.pdf

file format

Portable Document Format

1 reference

https://api.crossref.org/works/10.1038/SJ.ONC.1206736

https://www.nature.com/articles/1206736

14 March 2024

1 reference

https://api.crossref.org/works/10.1038/SJ.ONC.1206736

14 March 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14508519%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

volume

22

1 reference

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19 December 2019

issue

41

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14508519%20AND%20SRC:MED&resulttype=core&format=json

19 December 2019

page(s)

6387-6394

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14508519%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/sj.onc.1206736

19 December 2019

exact match

0 references

cites work

Tumor suppressor p16INK4A: determination of solution structure and analyses of its interaction with cyclin-dependent kinase 4

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1206736

7 January 2021

A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1206736

7 January 2021

A common founder for the V126D CDKN2A mutation in seven North American melanoma-prone families.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1206736

7 January 2021

CDKN2 explains part of the clinical phenotype in Dutch familial atypical multiple-mole melanoma (FAMMM) syndrome families.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1206736

7 January 2021

A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1206736

7 January 2021

Haplotype analysis and age estimation of the 113insR CDKN2A founder mutation in Swedish melanoma families

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1206736

7 January 2021

Germline mutation of ARF in a melanoma kindred

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1206736

7 January 2021

Role of the cyclin-dependent kinase inhibitor CDKN2A in familial melanoma

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1206736

7 January 2021

Germline p16 mutations in familial melanoma

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1206736

7 January 2021

Tumor suppressor INK4: determination of the solution structure of p18INK4C and demonstration of the functional significance of loops in p18INK4C and p16INK4A

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1206736

7 January 2021

Mutation of the CDKN2A 5' UTR creates an aberrant initiation codon and predisposes to melanoma

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1206736

7 January 2021

Structure of the cyclin-dependent kinase inhibitor p19Ink4d

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1206736

7 January 2021

Phenotypic variation in eight extended CDKN2A germline mutation familial atypical multiple mole melanoma-pancreatic carcinoma-prone families: the familial atypical mole melanoma-pancreatic carcinoma syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1206736

7 January 2021

CDKN2A germline mutations in U.K. patients with familial melanoma and multiple primary melanomas

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1206736

7 January 2021

CDKN2A mutations in multiple primary melanomas

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1206736

7 January 2021

CDKN2A germline splicing mutation affecting both p16ink4 and p14arf RNA processing in a melanoma/neurofibroma kindred

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1206736

7 January 2021

Haplotype analysis of two recurrentCDKN2A mutations in 10 melanoma families: Evidence for common founders and independent mutations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1206736

7 January 2021

Cancer-associated mutations at the INK4a locus cancel cell cycle arrest by p16INK4a but not by the alternative reading frame protein p19ARF.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1206736

7 January 2021

A melanoma-associated germline mutation in exon 1beta inactivates p14ARF.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1206736

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1206736

7 January 2021

Lack of germline CDK6 mutations in familial melanoma

1 reference

https://api.crossref.org/works/10.1038%2FSJ.ONC.1206736

7 January 2021

The p16INK4a/CDKN2A tumor suppressor and its relatives.

24

1 reference

https://api.crossref.org/works/10.1038/SJ.ONC.1206736

14 March 2024

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14508519%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

19 December 2019

1018942042

0 references

Fatcat ID

release_a4mp7hvhorhqzgmoxfidbdigqe

0 references

1 reference