(Q35129273)

6 August 2017

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features (English)

1 reference

SprT-like N-terminal domain

6 August 2017

1 reference

GOA release 2020-03-11

hepatocellular carcinoma

1 reference

27

Gudrun Nürnberg

0 references

Christian Kubisch

37

Christian Kubisch

0 references

Simon von Ameln

Simon von Ameln

19

0 references

Davor Lessel

Davor Lessel

1

0 references

David J Amor

David J Amor

34

0 references

Paul J. Lockhart

Paul J Lockhart

4

0 references

Ivan Đikić

Ivan Dikic

35

0 references

Peter Nürnberg

28

Peter Nürnberg

1 reference

6 August 2017

Marina Degoricija

21

0 references

Raimundo Freire

Raimundo Freire

12

0 references

Josef Högel

20

Josef Högel

1 reference

6 August 2017

17

Martin B Delatycki

1 reference

6 August 2017

26

Janine Altmüller

1 reference

6 August 2017

25

Holger Thiele

1 reference

ORCID Public Data File 2021

6 August 2017

1 reference

Martin Burkhalter

Martin D Burkhalter

23

1 reference

ORCID Public Data File 2021

author name string

Bruno Vaz

2

1 reference

6 August 2017

Swagata Halder

3

1 reference

6 August 2017

Ivana Marinovic-Terzic

5

1 reference

6 August 2017

Jaime Lopez-Mosqueda

6

1 reference

6 August 2017

Melanie Philipp

7

1 reference

6 August 2017

Joe C H Sim

8

1 reference

6 August 2017

Katherine R Smith

9

1 reference

6 August 2017

Judith Oehler

10

1 reference

6 August 2017

Elisa Cabrera

11

1 reference

6 August 2017

Kate Pope

13

1 reference

6 August 2017

Amsha Nahid

14

1 reference

6 August 2017

Fiona Norris

15

1 reference

6 August 2017

Richard J Leventer

16

1 reference

6 August 2017

Gotthold Barbi

18

1 reference

6 August 2017

Regina Fertig

22

1 reference

6 August 2017

Kay Hofmann

24

1 reference

6 August 2017

Melanie Bahlo

29

1 reference

6 August 2017

George M Martin

30

1 reference

6 August 2017

Cora M Aalfs

31

1 reference

6 August 2017

Junko Oshima

32

1 reference

6 August 2017

Janos Terzic

33

1 reference

6 August 2017

Kristijan Ramadan

36

1 reference

6 August 2017

language of work or name

English

0 references

publication date

28 September 2014

1 reference

6 August 2017

1 reference

6 August 2017

46

1 reference

6 August 2017

11

1 reference

6 August 2017

1239-1244

1 reference

describes a project that uses

6 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4343211/fullTextXML

inferred from PubMed Central ID database lookup

exact match

https://scigraph.springernature.com/pub.10.1038/ng.3103

0 references

cites work

Search and insights into novel genetic alterations leading to classical and atypical Werner syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

Causes and consequences of replication stress

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

Break-induced replication repair of damaged forks induces genomic duplications in human cells.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian or Pakistani Ancestry

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

Role of p97/VCP (Cdc48) in genome stability

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

Regulation of error-prone translesion synthesis by Spartan/C1orf124.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

DVC1 (C1orf124) recruits the p97 protein segregase to sites of DNA damage

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

DVC1 (C1orf124) is a DNA damage-targeting p97 adaptor that promotes ubiquitin-dependent responses to replication blocks

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

Characterization of human Spartan/C1orf124, an ubiquitin-PCNA interacting regulator of DNA damage tolerance

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

Proliferating cell nuclear antigen (PCNA)-binding protein C1orf124 is a regulator of translesion synthesis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

Spartan/C1orf124 is important to prevent UV-induced mutagenesis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

Spartan/C1orf124, a reader of PCNA ubiquitylation and a regulator of UV-induced DNA damage response

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

Molecular markers for cancer prognosis and treatment: have we struck gold?

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

13 July 2018

Hepatocellular carcinoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

Zebrafish mRNA sequencing deciphers novelties in transcriptome dynamics during maternal to zygotic transition

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

Exome sequencing and functional analysis identifies BANF1 mutation as the cause of a hereditary progeroid syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

53BP1 nuclear bodies form around DNA lesions generated by mitotic transmission of chromosomes under replication stress

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

Progeria syndromes and ageing: what is the connection?

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

Architecture of inherited susceptibility to common cancer

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

Maintaining genome stability at the replication fork

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

Generating linkage mapping files from Affymetrix SNP chip data

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

The epidemiology of hepatocellular cancer: from the perspectives of public health problem to tumor biology

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

Essential function of Chk1 can be uncoupled from DNA damage checkpoint and replication control

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

Mutation at the polymerase active site of mouse DNA polymerase delta increases genomic instability and accelerates tumorigenesis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

Molecular bases of progeroid syndromes.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

LMNA mutations in atypical Werner's syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

Estimation of the inbreeding coefficient through use of genomic data

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

ATR and ATRIP: partners in checkpoint signaling

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

The Werner syndrome gene: the molecular basis of RecQ helicase-deficiency diseases

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

Replicon clusters are stable units of chromosome structure: evidence that nuclear organization contributes to the efficient activation and propagation of S phase in human cells

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

Genetic syndromes in man with potential relevance to the pathobiology of aging

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

Coronary artery disease in a Werner syndrome-like form of progeria characterized by low levels of progerin, a splice variant of lamin A.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

HapCUT: an efficient and accurate algorithm for the haplotype assembly problem

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

The RecQ helicase WRN is required for normal replication fork progression after DNA damage or replication fork arrest

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

The impact of a negligent G2/M checkpoint on genomic instability and cancer induction.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

Atypical progeroid syndrome: an unknown helicase gene defect?

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4343211

Variegated translocation mosaicism in human skin fibroblast cultures

27 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25261934

12 December 2020

inferred from PubMed ID database lookup

Role for BLM in replication-fork restart and suppression of origin firing after replicative stress

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25261934

12 December 2020

inferred from PubMed ID database lookup

Ki-67 expression as a prognostic marker in patients with hepatocellular carcinoma

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25261934

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/NG.3103

1 reference

release_aqmuiczd7rb6pfytcyrm7x5qye

6 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/aqmuiczd7rb6pfytcyrm7x5qye

24 November 2022

mapped directly with Wikidata item

PMCID

4343211

1 reference

6 August 2017

1 reference