(Q28265079)

18

object named as

Christian Kubisch

0 references

Josef Högel

14

object named as

Josef Högel

0 references

author name string

Davor Lessel

1

0 references

Fuki M Hisama

2

0 references

Katalin Szakszon

3

0 references

Bidisha Saha

4

0 references

Alexander Barrios Sanjuanelo

5

0 references

Bonnie A Salbert

6

0 references

Pamela D Steele

7

0 references

W Ted Brown

9

0 references

Charles Piussan

10

0 references

Henri Plauchu

11

0 references

Judit Szilvássy

12

0 references

Edit Horkay

13

0 references

George M Martin

15

0 references

Alan J Herr

16

0 references

Junko Oshima

Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers

17

0 references

language of work or name

English

0 references

publication date

November 2015

0 references

published in

Human Mutation

0 references

volume

36

0 references

issue

11

0 references

page(s)

1070-9

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684254

Identification of a novel mutation in the polymerase delta 1 (POLD1) gene in a lipodystrophic patient affected by mandibular hypoplasia, deafness, progeroid features (MDPL) syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684254

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684254

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684254

DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684254

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684254

Age-dependent down-regulation of DNA polymerase δ1 in human lymphocytes

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684254

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684254

A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684254

Structural basis of high-fidelity DNA synthesis by yeast DNA polymerase delta

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684254

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684254

The spectrum of WRN mutations in Werner syndrome patients

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684254

LMNA mutations in atypical Werner's syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684254

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684254

Werner protein recruits DNA polymerase delta to the nucleolus

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684254

Building a replisome from interacting pieces: sliding clamp complexed to a peptide from DNA polymerase and a polymerase editing complex

20 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684254

20 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684254

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684254

Functional interaction between the Werner Syndrome protein and DNA polymerase delta

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684254

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4684254

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

29 September 2017

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.22833

An association of Hutchinson–Gilford progeria and malignancy

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.22833

No detectable mutations at Werner helicase locus in progeria

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26172944

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

[Atypical Werner syndrome: Atypical progeroid syndrome: A case report]

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26172944