(Q28975769)

21 March 2017

title

Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease (English)

1 reference

NSE3 homolog, SMC5-SMC6 complex component

21 March 2017

main subject

1 reference

NSE1 homolog, SMC5-SMC6 complex component

GOA release 2020-03-11

1 reference

cellular response to hydroxyurea

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Aaron Alt

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Jan Palecek

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Antony W. Oliver

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Johanne Murray

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

2

Marije P Hennus

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

20

Eric Hennekam

2 references

21 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

author name string

Magdalena Harakalova

7

2 references

21 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Lucie Vondrova

10

2 references

21 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Ron Hochstenbach

11

2 references

21 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Stef van Lieshout

14

2 references

21 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Ivo Renkens

16

2 references

21 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Karen Duran

17

2 references

21 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Gijs van Haaften

30

2 references

21 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Saskia N van der Crabben

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Grant A McGregor

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Deborah I Ritter

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Sandesh C S Nagamani

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Ivan K Chinn

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Joris M van Montfrans

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Suzanne W Terheggen-Lagro

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Markus J van Roosmalen

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Isaac J Nijman

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Wigard P Kloosterman

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Jordan S Orange

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Peter M van Hasselt

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

David A Wheeler

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Alan R Lehmann

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Laurence H Pearl

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

Sharon E Plon

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

language of work or name

English

0 references

publication date

1 August 2016

1 reference

Journal of Clinical Investigation

21 March 2017

published in

2 references

21 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

volume

126

2 references

21 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

issue

8

2 references

21 March 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

page(s)

2881-2892

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

describes a project that uses

10 June 2020

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4966312/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

The Matchmaker Exchange: a platform for rare disease gene discovery

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

NIH Image to ImageJ: 25 years of image analysis

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

Interactions between the Nse3 and Nse4 components of the SMC5-6 complex identify evolutionarily conserved interactions between MAGE and EID Families

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

MAGE-RING Protein Complexes Comprise a Family of E3 Ubiquitin Ligases

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

ATM and Artemis promote homologous recombination of radiation-induced DNA double-strand breaks in G2

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

Identification of the proteins, including MAGEG1, that make up the human SMC5-6 protein complex

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

Ubc9- and mms21-mediated sumoylation counteracts recombinogenic events at damaged replication forks

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

Dynamic molecular linkers of the genome: the first decade of SMC proteins

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

A necdin/MAGE-like gene in the chromosome 15 autism susceptibility region: expression, imprinting, and mapping of the human and mouse orthologues

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

An overview of the MAGE gene family with the identification of all human members of the family

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

Characterization of a novel human SMC heterodimer homologous to the Schizosaccharomyces pombe Rad18/Spr18 complex

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

dbSNP: the NCBI database of genetic variation

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

Biallelic inactivation of BRCA2 in Fanconi anemia

23 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

Essential Roles of the Smc5/6 Complex in Replication through Natural Pausing Sites and Endogenous DNA Damage Tolerance

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

Kite Proteins: a Superfamily of SMC/Kleisin Partners Conserved Across Bacteria, Archaea, and Eukaryotes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

NSMCE2 suppresses cancer and aging in mice independently of its SUMO ligase activity

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

Resolving complex chromosome structures during meiosis: versatile deployment of Smc5/6.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

Pediatric acute respiratory distress syndrome: consensus recommendations from the Pediatric Acute Lung Injury Consensus Conference

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

Advanced methods of microscope control using μManager software

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

The melanoma-associated antigen 1 (MAGEA1) protein stimulates the E3 ubiquitin-ligase activity of TRIM31 within a TRIM31-MAGEA1-NSE4 complex

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

Restriction of replication fork regression activities by a conserved SMC complex.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

Functional interplay between cohesin and Smc5/6 complexes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

Whole-genome sequence variation, population structure and demographic history of the Dutch population

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

Dominant missense mutations in ABCC9 cause Cantú syndrome.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

Analysis of the Nse3/MAGE-binding domain of the Nse4/EID family proteins

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

Double-strand breaks in heterochromatin move outside of a dynamic HP1a domain to complete recombinational repair.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

Roles of vertebrate Smc5 in sister chromatid cohesion and homologous recombinational repair.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

Mre11-Rad50-Nbs1 conformations and the control of sensing, signaling, and effector responses at DNA double-strand breaks

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

The Smc5/6 complex and Esc2 influence multiple replication-associated recombination processes in Saccharomyces cerevisiae

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

Hydroxyurea-stalled replication forks become progressively inactivated and require two different RAD51-mediated pathways for restart and repair.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

Smc5/6 maintains stalled replication forks in a recombination-competent conformation.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

Homologous recombination is necessary for normal lymphocyte development

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

Smc5/6 is required for repair at collapsed replication forks

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

The Smc5-Smc6 DNA repair complex. bridging of the Smc5-Smc6 heads by the KLEISIN, Nse4, and non-Kleisin subunits

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

Requirement of the MRN complex for ATM activation by DNA damage

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

Early diagnosis of ataxia-telangiectasia using radiosensitivity testing

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

The MAGE proteins: emerging roles in cell cycle progression, apoptosis, and neurogenetic disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

Immunodeficiency associated with DNA repair defects

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

The rad18 gene of Schizosaccharomyces pombe defines a new subgroup of the SMC superfamily involved in DNA repair.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

Survey of radiosensitivity in a variety of human cell strains.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

The influence of caffeine on cell survival in excision-proficient and excision-deficient xeroderma pigmentosum and normal human cell strains following ultraviolet-light irradiation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

SMC6 is an essential gene in mice, but a hypomorphic mutant in the ATPase domain has a mild phenotype with a range of subtle abnormalities.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

The defect in humoral immunity in patients with Nijmegen breakage syndrome is explained by defects in peripheral B lymphocyte maturation.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4966312

Abnormalities in glucose homeostasis in critically ill children

26 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/27427983

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Smc5/6: a link between DNA repair and unidirectional replication?

1 reference

https://pubmed.ncbi.nlm.nih.gov/27427983

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI82890

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27427983%20AND%20SRC:MED&resulttype=core&format=json

10 June 2020

2 references