(Q30811549)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27412785%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

title

Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27412785%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

1 reference

2

1 reference

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18 March 2020

17

Kevin Eggan

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27412785%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Jennifer J. Trowbridge

15

object named as

Jennifer J Trowbridge

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27412785%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

author name string

Aaron Burberry

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27412785%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Jin-Yuan Wang

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27412785%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Rob Moccia

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27412785%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Daniel A Mordes

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27412785%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Morag H Stewart

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27412785%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Satomi Suzuki-Uematsu

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27412785%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Sulagna Ghosh

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27412785%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Ajay Singh

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27412785%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Florian T Merkle

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27412785%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Kathryn Koszka

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27412785%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Quan-Zhen Li

12

1 reference

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18 March 2020

Leonard Zon

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27412785%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Derrick J Rossi

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27412785%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

Luigi D Notarangelo

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27412785%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

language of work or name

English

0 references

publication date

1 July 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27412785%20AND%20SRC:MED&resulttype=core&format=json

Science Translational Medicine

18 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27412785%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

volume

8

1 reference

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18 March 2020

issue

347

1 reference

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18 March 2020

page(s)

347ra93

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27412785%20AND%20SRC:MED&resulttype=core&format=json

C9orf72 ablation causes immune dysregulation characterized by leukocyte expansion, autoantibody production, and glomerulonephropathy in mice.

18 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024536

Autoimmune Hemolysis: A Journey through Time

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024536

C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024536

Regulation of T-cell activation and migration by the kinase TBK1 during neuroinflammation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024536

Breaking peripheral immune tolerance to CNS antigens in neurodegenerative diseases: boosting autoimmunity to fight-off chronic neuroinflammation.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024536

OutKnocker: a web tool for rapid and simple genotyping of designer nuclease edited cell lines

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024536

Linking susceptibility genes and pathogenesis mechanisms using mouse models of systemic lupus erythematosus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024536

The IL-23-IL-17 immune axis: from mechanisms to therapeutic testing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024536

C9orf72 nucleotide repeat structures initiate molecular cascades of disease.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024536

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024536

Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024536

The mouse C9ORF72 ortholog is enriched in neurons known to degenerate in ALS and FTD.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024536

RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024536

Autoimmune disease preceding amyotrophic lateral sclerosis: an epidemiologic study

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024536

Immune-mediated mechanisms in the pathoprogression of amyotrophic lateral sclerosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024536

Hepatic manifestations in hematological disorders

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024536

The changing scene of amyotrophic lateral sclerosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024536

The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024536

The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024536

Regulatory T-lymphocytes mediate amyotrophic lateral sclerosis progression and survival

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024536

Linking complement and anti-dsDNA antibodies in the pathogenesis of systemic lupus erythematosus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024536

Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024536

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024536

Autoimmunity in amyotrophic lateral sclerosis: past and present

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024536

Auto-reconstitution of the T-cell compartment by radioresistant hematopoietic cells following lethal irradiation and bone marrow transplantation.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024536

The role of extracellular DNA in autoimmunity in SLE.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024536

T lymphocytes potentiate endogenous neuroprotective inflammation in a mouse model of ALS.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024536

The Immunological Genome Project: networks of gene expression in immune cells.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024536

Are the IKKs and IKK-related kinases TBK1 and IKK-epsilon similarly activated?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024536

Identification of autoantibody clusters that best predict lupus disease activity using glomerular proteome arrays

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024536

Insertion of a targeting construct in a Hoxd-10 allele can influence the control of Hoxd-9 expression

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024536

Bone marrow histologic pattern--the best single prognostic parameter in chronic lymphocytic leukemia: a multivariate survival analysis of 329 cases.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024536

Amyotrophic lateral sclerosis

21 June 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAF6038

Pathophysiological insights into ALS with C9ORF72 expansions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAF6038

Efficient gene modulation in mouse epiblast using a Sox2Cre transgenic mouse strain

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAF6038

Exome sequencing uncovers hidden pathways in familial and sporadic ALS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAF6038

Mice lacking Tbk1 activity exhibit immune cell infiltrates in multiple tissues and increased susceptibility to LPS-induced lethality.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAF6038

Presence of dendritic cells, MCP-1, and activated microglia/macrophages in amyotrophic lateral sclerosis spinal cord tissue

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAF6038

C9orf72 is required for proper macrophage and microglial function in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAF6038

Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5024536

Diagnostic aspects of cervical lymphadenopathy in children in the developing world: a study of 1,877 surgical specimens

25 November 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAF6038

Control of V(D)J recombinational accessibility of the D beta 1 gene segment at the TCR beta locus by a germline promoter

21 January 2018

1 reference

12 December 2020

Comparison of normal blood picture of young adults from 18 inbred strains of mice

1 reference

12 December 2020

Interleukin-17 and interleukin-23 are elevated in serum and cerebrospinal fluid of patients with ALS: a reflection of Th17 cells activation?

1 reference

12 December 2020

Lymphocytic infiltration in the spinal cord of patients with amyotrophic lateral sclerosis

1 reference

12 December 2020

10.1126/SCITRANSLMED.AAF6038

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27412785%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27412785%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

1 reference