(Q55436386)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22888040%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

title

SMARCAL1 deficiency predisposes to non-Hodgkin lymphoma and hypersensitivity to genotoxic agents in vivo (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22888040%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

1 reference

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22888040%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

P O Mari

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22888040%20AND%20SRC:MED&resulttype=core&format=json

Malgorzata J. M. Nowaczyk

11 February 2020

14

object named as

Malgorzata J M Nowaczyk

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22888040%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

author name string

Alireza Baradaran-Heravi

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22888040%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Anja Raams

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22888040%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Joanna Lubieniecka

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22888040%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Kyoung Sang Cho

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22888040%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Kristi A DeHaai

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22888040%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Yutong Xue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22888040%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Michael Rauth

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22888040%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Ann Haskins Olney

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22888040%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Mary Shago

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22888040%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Kunho Choi

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22888040%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Rosanna A Weksberg

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22888040%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Weidong Wang

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22888040%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Nicolaas G J Jaspers

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22888040%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Cornelius F Boerkoel

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22888040%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

language of work or name

English

0 references

publication date

7 August 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22888040%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

11 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22888040%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

volume

158A

1 reference

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11 February 2020

issue

9

1 reference

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11 February 2020

page(s)

2204-2213

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22888040%20AND%20SRC:MED&resulttype=core&format=json

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

11 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=3429644

The HARP domain dictates the annealing helicase activity of HARP/SMARCAL1.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429644

Recombination centres and the orchestration of V(D)J recombination

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429644

The DNA Damage Response: Making It Safe to Play with Knives

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429644

Schimke immunoosseous dysplasia: defining skeletal features

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429644

Identification of SMARCAL1 as a component of the DNA damage response

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429644

The annealing helicase HARP protects stalled replication forks

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429644

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429644

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429644

The annealing helicase SMARCAL1 maintains genome integrity at stalled replication forks

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429644

HARP is an ATP-driven annealing helicase

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429644

Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429644

The non-Hodgkin lymphomas: a review of the epidemiologic literature

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429644

First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429644

Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429644

Schimke immuno-osseous dysplasia: a clinicopathological correlation

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429644

The epidemiology of non-Hodgkin lymphoma

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429644

Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429644

Anti-tumour compounds illudin S and Irofulven induce DNA lesions ignored by global repair and exclusively processed by transcription- and replication-coupled repair pathways.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429644

V(D)J recombination: RAG proteins, repair factors, and regulation

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429644

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429644

Cloning and characterization of HARP/SMARCAL1: a prokaryotic HepA-related SNF2 helicase protein from human and mouse

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429644

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429644

Excess of rare cancers in Werner syndrome (adult progeria)

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429644

Chondroitin-6-sulphaturia, defective cellular immunity, and nephrotic syndrome.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429644

Schimke immuno-osseous dysplasia: a newly recognized multisystem disease.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429644

Non-hodgkin lymphoma in a child with schimke immuno-osseous dysplasia.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429644

Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429644

Detection of apoptosis by terminal deoxynucleotidyl transferase-mediated dUTP nick-end labeling and acridine orange in Drosophila embryos and adult male gonads.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429644

Schimke immunoosseous dysplasia: suggestions of genetic diversity.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429644

Association of migraine-like headaches with Schimke immuno-osseous dysplasia.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429644

Impact of DNA ligase IV on nonhomologous end joining pathways during class switch recombination in human cells.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429644

Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasia.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429644

IgG4 deficiency with Rothmund-Thomson syndrome: a case report

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3429644

Schimke immuno-osseous dysplasia: two cases

12 August 2018

1 reference

12 December 2020

Successful bone marrow transplantation in a patient with Schimke immuno-osseous dysplasia

1 reference

12 December 2020

Dental findings in the Schimke immuno-osseous dysplasia

1 reference

12 December 2020

Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.35532

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22888040%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22888040%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

PubMed publication ID

22888040

1 reference