Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma (Q33751971)

29 July 2017

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma (English)

1 reference

29 July 2017

45

Meredith Yeager

0 references

Alexander Eggermont

37

Alexander Eggermont

0 references

Mark Lathrop

38

Mark Lathrop

1 reference

Brigitte Bressac-de Paillerets

29 July 2017

8

Brigitte Bressac-de Paillerets

0 references

Amaury Vaysse

Amaury Vaysse

24

0 references

Cristina Pellegrini

Cristina Pellegrini

35

0 references

Lorenza Pastorino

Lorenza Pastorino

20

0 references

William Bruno

William Bruno

19

0 references

Maria Concetta Fargnoli

Maria Concetta Fargnoli

6

0 references

Paola Queirolo

Paola Queirolo

21

0 references

Sharon A. Savage

Sharon A Savage

42

0 references

Florence Demenais

Florence Demenais

47

0 references

Eduardo Nagore

Eduardo Nagore

9

0 references

Ketty Peris

Ketty Peris

39

0 references

Stephen Chanock

48

Stephen J Chanock

1 reference

29 July 2017

14

Zhaoming Wang

1 reference

29 July 2017

Marie-Françoise Avril

10

Marie Francoise Avril

1 reference

29 July 2017

52

Maria Teresa Landi

1 reference

29 July 2017

50

Alisa M Goldstein

1 reference

29 July 2017

5

Donato Calista

1 reference

29 July 2017

7

Paola Ghiorzo

1 reference

French Familial Melanoma Study Group

29 July 2017

18

French Familial Melanoma Study Group

1 reference

29 July 2017

23

Zaida Garcia-Casado

1 reference

29 July 2017

25

Hamida Mohamdi

1 reference

29 July 2017

49

Margaret A Tucker

1 reference

29 July 2017

46

Lynn R Goldin

1 reference

29 July 2017

30

Paula L Hyland

1 reference

29 July 2017

11

Neil E Caporaso

1 reference

29 July 2017

4

Melissa Rotunno

1 reference

NCI DCEG Cancer Sequencing Working Group

29 July 2017

16

NCI DCEG Cancer Sequencing Working Group

1 reference

NCI DCEG Cancer Genomics Research Laboratory

29 July 2017

17

NCI DCEG Cancer Genomics Research Laboratory

1 reference

29 July 2017

Sarangan Ravichandran

36

Sarangan Ravichandran

1 reference

29 July 2017

43

Joshua N Sampson

1 reference

29 July 2017

Yasser Riazalhosseini

26

Yasser Riazalhosseini

1 reference

29 July 2017

Jianxin Shi

1

1 reference

29 July 2017

Xiaohong R Yang

2

1 reference

29 July 2017

Bari Ballew

3

1 reference

29 July 2017

Mary L McMaster

12

1 reference

29 July 2017

Michael Cullen

13

1 reference

29 July 2017

Xijun Zhang

15

1 reference

29 July 2017

Jose Banuls-Roca

22

1 reference

29 July 2017

Mario Foglio

27

1 reference

29 July 2017

Fanélie Jouenne

28

1 reference

29 July 2017

Xing Hua

29

1 reference

29 July 2017

Jinhu Yin

31

1 reference

29 July 2017

Haritha Vallabhaneni

32

1 reference

29 July 2017

Weihang Chai

33

1 reference

29 July 2017

Paola Minghetti

34

1 reference

29 July 2017

Giovanna Bianchi Scarra

40

1 reference

29 July 2017

Giorgio Landi

41

1 reference

29 July 2017

Ji He

44

1 reference

29 July 2017

Yie Liu

51

1 reference

29 July 2017

language of work or name

English

0 references

publication date

30 March 2014

1 reference

29 July 2017

1 reference

29 July 2017

46

1 reference

29 July 2017

5

1 reference

29 July 2017

482-486

1 reference

describes a project that uses

29 July 2017

ImageQuant

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4056593/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

exact match

https://scigraph.springernature.com/pub.10.1038/ng.2941

0 references

cites work

POT1 loss-of-function variants predispose to familial melanoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

Defective repair of oxidative base lesions by the DNA glycosylase Nth1 associates with multiple telomere defects

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

TERT promoter mutations in familial and sporadic melanoma

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

On the interplay of telomeres, nevi and the risk of melanoma

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

Long telomeres bypass the requirement for telomere maintenance in human tumorigenesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

Copy number variation detection and genotyping from exome sequence data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

CTC1 deletion results in defective telomere replication, leading to catastrophic telomere loss and stem cell exhaustion

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

Germline mutations in BAP1 predispose to melanocytic tumors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

A framework for variation discovery and genotyping using next-generation DNA sequencing data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

BRCA2 acts as a RAD51 loader to facilitate telomere replication and capping

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

Increased telomere fragility and fusions resulting from TRF1 deficiency lead to degenerative pathologies and increased cancer in mice

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

POT1 association with TRF2 regulates telomere length

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

Mammalian telomeres resemble fragile sites and require TRF1 for efficient replication

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

Common genetic variants in candidate genes and risk of familial lymphoid malignancies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

Detection of sharing by descent, long-range phasing and haplotype imputation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

Jalview Version 2--a multiple sequence alignment editor and analysis workbench

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

How shelterin protects mammalian telomeres

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

Environment And Genetics in Lung cancer Etiology (EAGLE) study: an integrative population-based case-control study of lung cancer

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

Analysis of telomere length and telomerase activity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

PLINK: a tool set for whole-genome association and population-based linkage analyses

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

The POT1-TPP1 telomere complex is a telomerase processivity factor

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

An increase in telomere sister chromatid exchange in murine embryonic stem cells possessing critically shortened telomeres

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

Human telomeres maintain their overhang length at senescence

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

Structure of human POT1 bound to telomeric single-stranded DNA provides a model for chromosome end-protection

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

Strand-specific fluorescence in situ hybridization: the CO-FISH family

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

DNA self-recognition in the structure of Pot1 bound to telomeric single-stranded DNA

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

DNA damage foci at dysfunctional telomeres

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

Nucleotide shuffling and ssDNA recognition in Oxytricha nova telomere end-binding protein complexes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

POT1 as a terminal transducer of TRF1 telomere length control

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

Crystal structure of the N-terminal domain of Oxytricha nova telomere end-binding protein alpha subunit both uncomplexed and complexed with telomeric ssDNA

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

Genetic epidemiology of cutaneous melanoma: a global perspective

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

DNA G-quartets in a 1.86 A resolution structure of an Oxytricha nova telomeric protein-DNA complex

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

The telomerase reverse transcriptase is limiting and necessary for telomerase function in vivo.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

T-Coffee: A novel method for fast and accurate multiple sequence alignment

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

Telomeres in the mouse have large inter-chromosomal variations in the number of T2AG3 repeats

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

Germline p16 mutations in familial melanoma

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

Assignment of a locus for familial melanoma, MLM, to chromosome 9p13-p22

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4056593

Genetic susceptibility in familial melanoma from northeastern Italy.

21 June 2018

1 reference

A natural history of melanomas and dysplastic nevi

21 January 2018

1 reference

Influence of Genes, Nevi, and Sun Sensitivity on Melanoma Risk in a Family Sample Unselected by Family History and in Melanoma-Prone Families

21 January 2018

1 reference

Variants at chromosome 20 (ASIP locus) and melanoma risk.

21 January 2018

1 reference

Estimating the age of rare disease mutations: the example of Triple-A syndrome.

21 January 2018

1 reference

Homozygotes for CDKN2 (p16) germline mutation in Dutch familial melanoma kindreds

21 January 2018

1 reference

Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism

21 January 2018

1 reference

Familial melanoma, pancreatic cancer and germline CDKN2A mutations

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24686846

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Population-Based Prevalence of CDKN2A Mutations in Utah Melanoma Families

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24686846

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.2941

1 reference

29 July 2017

1 reference

29 July 2017

1 reference