(Q36104721)

12 August 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31654069%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

title

Germline mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia (English)

1 reference

12 August 2017

Germ line mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31654069%20AND%20SRC:MED&resulttype=core&format=json

chronic lymphocytic leukemia

30 May 2020

main subject

lymphocyte

0 references

1 reference

Ben Kinnersley

2

0 references

Richard Houlston

object named as

Richard S Houlston

12

0 references

Daniel Catovsky

11

object named as

Daniel Catovsky

1 reference

12 August 2017

9

Claire Dearden

1 reference

12 August 2017

4

Peter Broderick

1 reference

12 August 2017

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31654069%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

6

Kevin Litchfield

1 reference

12 August 2017

8

Martin J S Dyer

2 references

12 August 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31654069%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

author name string

Helen E Speedy

1

2 references

12 August 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31654069%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

Daniel Chubb

3

2 references

12 August 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31654069%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

Philip J Law

5

2 references

12 August 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31654069%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

Sandrine Jayne

7

2 references

12 August 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31654069%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

George A Follows

10

2 references

12 August 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31654069%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

Ben Kinnersley

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31654069%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

Peter Broderick

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31654069%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

Claire Dearden

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31654069%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

Daniel Catovsky

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31654069%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

Richard S Houlston

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31654069%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

language of work or name

English

0 references

publication date

15 August 2016

1 reference

12 August 2017

1 November 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31654069%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

2 references

12 August 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31654069%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

volume

128

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31654069%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

issue

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31654069%20AND%20SRC:MED&resulttype=core&format=json

30 May 2020

page(s)

2319-2326

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31654069%20AND%20SRC:MED&resulttype=core&format=json

Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.

30 May 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

Telomere Replication Stress Induced by POT1 Inactivation Accelerates Tumorigenesis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

The ICR1000 UK exome series: a resource of gene variation in an outbred population

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

ATM and ATR Signaling Regulate the Recruitment of Human Telomerase to Telomeres

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

Mutations driving CLL and their evolution in progression and relapse

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

INPS: predicting the impact of non-synonymous variations on protein stability from sequence.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

Germline mutations in shelterin complex genes are associated with familial glioma

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

Obinutuzumab (GA101) in relapsed/refractory chronic lymphocytic leukemia: final data from the phase 1/2 GAUGUIN study

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

Ibrutinib versus ofatumumab in previously treated chronic lymphoid leukemia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

SuSPect: enhanced prediction of single amino acid variant (SAV) phenotype using network features

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

POT1 loss-of-function variants predispose to familial melanoma

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

Estimating telomere length from whole genome sequence data

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

A general framework for estimating the relative pathogenicity of human genetic variants

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

Idelalisib and rituximab in relapsed chronic lymphocytic leukemia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

A genome-wide association scan (GWAS) for mean telomere length within the COGS project: identified loci show little association with hormone-related cancer risk

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

Identification of seven loci affecting mean telomere length and their association with disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

Evolution and impact of subclonal mutations in chronic lymphocytic leukemia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

2 October 2017

Cancer statistics, 2012

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

T-Coffee: a web server for the multiple sequence alignment of protein and RNA sequences using structural information and homology extension

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

Stampy: a statistical algorithm for sensitive and fast mapping of Illumina sequence reads

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

Telomere length in prospective and retrospective cancer case-control studies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

Common variants at 2q37.3, 8q24.21, 15q21.3 and 16q24.1 influence chronic lymphocytic leukemia risk

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

Fast and accurate short read alignment with Burrows-Wheeler transform

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

Elevated risk of chronic lymphocytic leukemia and other indolent non-Hodgkin's lymphomas among relatives of patients with chronic lymphocytic leukemia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

A high-density SNP genome-wide linkage search of 206 families identifies susceptibility loci for chronic lymphocytic leukemia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

The POT1-TPP1 telomere complex is a telomerase processivity factor

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

Shelterin: the protein complex that shapes and safeguards human telomeres

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

Cohort profile: 1958 British birth cohort (National Child Development Study).

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

UCSF Chimera--a visualization system for exploratory research and analysis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

SIFT: Predicting amino acid changes that affect protein function

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

POT1 as a terminal transducer of TRF1 telomere length control

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

Telomere measurement by quantitative PCR

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

Cn3D: sequence and structure views for Entrez

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

mCSM: predicting the effects of mutations in proteins using graph-based signatures.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

A high-density SNP genomewide linkage scan for chronic lymphocytic leukemia-susceptibility loci

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

Common variation at 12q24.13 (OAS3) influences chronic lymphocytic leukemia risk.

2 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

Non-coding recurrent mutations in chronic lymphocytic leukaemia

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5271173

10.1182/BLOOD-2016-01-695692

21 October 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31654069%20AND%20SRC:MED&resulttype=core&format=json

release_wno3lonwpfb3pdi5cmiqiiwzwm

30 May 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/wno3lonwpfb3pdi5cmiqiiwzwm

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

12 August 2017

27528712

2 references

12 August 2017