(Q35102528)

6 August 2017

Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma (English)

1 reference

6 August 2017

1 reference

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Carlos López Otín

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Lauren Aoude

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Antonia Pritchard

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

Carla Daniela Robles-Espinoza

11 June 2020

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Peter Johansson

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Vanessa F Bonazzi

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Susan Woods

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Mitchell S. Stark

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Grant W. Montgomery

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Nick Martin

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Thomas M. Keane

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Håkan Olsson

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Nelleke A Gruis

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Timothy Bishop

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Graham J Mann

35

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Julia A Newton Bishop

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

32

Jeffrey M Trent

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

10

Jane M Palmer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

4

Karin Wadt

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

33

Göran Jönsson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

5

Mark Harland

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

7

Michael Gartside

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

14

Judith Symmons

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

19

Ken Dutton-Regester

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

22

Remco van Doorn

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

29

Christian Ingvar

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

30

Ake Borg

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

author name string

Jiyeon Choi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Andrew J Ramsay

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Xijun Zhang

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Kristine Jones

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Elizabeth A Holland

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Helen Schmid

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Helen Snowden

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Kevin M Brown

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

David J Adams

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Nicholas K Hayward

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

Anne-Marie Gerdes

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

language of work or name

English

0 references

publication date

13 December 2014

1 reference

Journal of the National Cancer Institute

6 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

volume

107

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

POT1 loss-of-function variants predispose to familial melanoma

11 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334787

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334787

Whole-exome sequencing of 2,000 Danish individuals and the role of rare coding variants in type 2 diabetes

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334787

POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334787

TERT promoter mutations in familial and sporadic melanoma

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334787

Rate of de novo mutations and the importance of father's age to disease risk

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334787

TPP1 OB-fold domain controls telomere maintenance by recruiting telomerase to chromosome ends

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334787

Germline mutations in BAP1 predispose to melanocytic tumors

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334787

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334787

Loss of Rap1 induces telomere recombination in the absence of NHEJ or a DNA damage signal

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334787

The Sequence Alignment/Map format and SAMtools

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334787

Fast and accurate short read alignment with Burrows-Wheeler transform

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334787

The Queensland Study of Melanoma: environmental and genetic associations (Q-MEGA); study design, baseline characteristics, and repeatability of phenotype and sun exposure measures

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334787

The POT1-TPP1 telomere complex is a telomerase processivity factor

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334787

TPP1 is a homologue of ciliate TEBP-beta and interacts with POT1 to recruit telomerase

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334787

Shelterin: the protein complex that shapes and safeguards human telomeres

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334787

POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334787

PTOP interacts with POT1 and regulates its localization to telomeres

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334787

TIN2 is a tankyrase 1 PARP modulator in the TRF1 telomere length control complex

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334787

POT1 as a terminal transducer of TRF1 telomere length control

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334787

Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334787

High-risk Melanoma Susceptibility Genes and Pancreatic Cancer, Neural System Tumors, and Uveal Melanoma across GenoMEL

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334787

Anticipated uptake of genetic testing for familial melanoma in an Australian sample: An exploratory study.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334787

Genetic and environmental contributions to size, color, shape, and other characteristics of melanocytic naevi in a sample of adolescent twins

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4334787

CDKN2A Variants in a Population-Based Sample of Queensland Families With Melanoma

27 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FJNCI%2FDJU408

The Queensland Familial Melanoma Project: study design and characteristics of participants

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25505254

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/JNCI/DJU408

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

11 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json

11 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25505254%20AND%20SRC:MED&resulttype=core&format=json