(Q41911446)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23630135%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

title

Schimke Immunoosseous Dysplasia associated with undifferentiated carcinoma and a novel SMARCAL1 mutation in a child (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23630135%20AND%20SRC:MED&resulttype=core&format=json

undifferentiated carcinoma

29 February 2020

main subject

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23630135%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

author name string

Clinton Carroll

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23630135%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Akosua Badu-Nkansah

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23630135%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Alireza Baradaran-Heravi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23630135%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

David Cortez

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23630135%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Haydar Frangoul

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23630135%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

publication date

29 April 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23630135%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

published in

Pediatric Blood Cancer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23630135%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

volume

60

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23630135%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

issue

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23630135%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

page(s)

E88-90

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23630135%20AND%20SRC:MED&resulttype=core&format=json

RAPADILINO RECQL4 mutant protein lacks helicase and ATPase activity

29 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713188

Novel mutations target distinct subgroups of medulloblastoma.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713188

Dental abnormalities in Schimke immuno-osseous dysplasia.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713188

Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713188

SMARCAL1 catalyzes fork regression and Holliday junction migration to maintain genome stability during DNA replication

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713188

Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713188

The Werner and Bloom syndrome proteins help resolve replication blockage by converting (regressed) holliday junctions to functional replication forks

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713188

SMARCAL1 and replication stress: an explanation for SIOD?

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713188

The annealing helicase HARP protects stalled replication forks

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713188

The annealing helicase HARP is recruited to DNA repair sites via an interaction with RPA

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713188

The SIOD disorder protein SMARCAL1 is an RPA-interacting protein involved in replication fork restart

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713188

The annealing helicase SMARCAL1 maintains genome integrity at stalled replication forks

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713188

HARP is an ATP-driven annealing helicase

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713188

Identification of multiple distinct Snf2 subfamilies with conserved structural motifs.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713188

R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713188

Longevity in Schimke immuno-osseous dysplasia

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713188

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713188

Combined modality treatment for locally advanced squamous-cell carcinoma of the oropharynx in a woman with Bloom's syndrome: a case report and review of the literature

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713188

Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713188

Squamous cell carcinoma of the tongue in a patient with Rothmund-Thomson syndrome

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713188

SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713188

Molecular assessment of thymic capacities in patients with Schimke immuno-osseous dysplasia.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713188

Cerebellar atrophy in Schimke-immuno-osseous dysplasia.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713188

Schimke immunoosseous dysplasia: suggestions of genetic diversity.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713188

The Bloom's syndrome helicase can promote the regression of a model replication fork.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3713188

Loss of BRG1/BRM in human lung cancer cell lines and primary lung cancers: correlation with poor prognosis

18 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23630135

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Bladder carcinoma with Werner syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23630135

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Schimke-immuno-osseous dysplasia: new mutation with weak genotype-phenotype correlation in siblings

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23630135

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/PBC.24542

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23630135%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23630135%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference