(Q49874702)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29358286%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

title

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29358286%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29358286%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

49

Ivona Aksentijevich

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29358286%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

48

Daniel L Kastner

1 reference

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9 April 2020

36

Elaine F Remmers

1 reference

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9 April 2020

32

Martha M Quezado

1 reference

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9 April 2020

27

Julie E Niemela

1 reference

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9 April 2020

43

Katherine R Calvo

1 reference

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9 April 2020

45

Massimo Gadina

1 reference

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9 April 2020

41

Raman Sood

1 reference

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9 April 2020

44

Sergio D Rosenzweig

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29358286%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

13

Wanxia Li Tsai

1 reference

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9 April 2020

4

Yong Hwan Park

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29358286%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

33

Amanda K Ombrello

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29358286%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

29

Manfred Boehm

1 reference

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9 April 2020

17

Wuhong Pei

1 reference

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9 April 2020

31

JaeJin Chae

1 reference

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9 April 2020

1

Angeliki Giannelou

1 reference

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9 April 2020

8

Anna Sediva

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29358286%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

20

Jehad H Edwan

1 reference

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9 April 2020

Gustavo Gutierrez-Cruz

39

object named as

Gustavo Gutierrez-Cruz

1 reference

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9 April 2020

12

Elisavet Serti

1 reference

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9 April 2020

30

Barbara Rehermann

1 reference

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9 April 2020

author name string

Hongying Wang

2

1 reference

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9 April 2020

Qing Zhou

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29358286%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Mones S Abu-Asab

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29358286%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Kris Ylaya

6

1 reference

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9 April 2020

Deborah L Stone

7

1 reference

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9 April 2020

Rola Sleiman

9

1 reference

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9 April 2020

Lucie Sramkova

10

1 reference

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9 April 2020

Deepika Bhatla

11

1 reference

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9 April 2020

Dan Yang

14

1 reference

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9 April 2020

Kevin Bishop

15

1 reference

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9 April 2020

Blake Carrington

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29358286%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Stephen Brooks

19

1 reference

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9 April 2020

Sarita Joshi

21

1 reference

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9 April 2020

Seraina Prader

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29358286%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Daniela Kaiser

23

1 reference

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9 April 2020

William C Owen

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29358286%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Abdullah Al Sonbul

25

1 reference

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9 April 2020

Yu Zhang

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29358286%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

Shawn M Burgess

28

1 reference

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9 April 2020

Rebecca H Buckley

34

1 reference

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9 April 2020

Alexi A Grom

35

1 reference

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9 April 2020

Jana M Pachlopnik

37

1 reference

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9 April 2020

Helen C Su

38

1 reference

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9 April 2020

Stephen M Hewitt

40

1 reference

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9 April 2020

Kimberly Risma

42

1 reference

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9 April 2020

Markus Hafner

46

1 reference

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9 April 2020

Hong-Wei Sun

47

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29358286%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

language of work or name

English

0 references

publication date

22 January 2018

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29358286%20AND%20SRC:MED&resulttype=core&format=json

Annals of the Rheumatic Diseases

9 April 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29358286%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

volume

77

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29358286%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29358286%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

page(s)

612-619

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29358286%20AND%20SRC:MED&resulttype=core&format=json

The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation

9 April 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5890629

Patient-specific induced pluripotent stem cells to evaluate the pathophysiology of TRNT1-associated Retinitis pigmentosa.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5890629

Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5890629

Abnormal B-cell maturation in the bone marrow of patients with germline mutations in PIK3CD.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5890629

Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5890629

TRNT1 deficiency: clinical, biochemical and molecular genetic features

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5890629

Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblasts.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5890629

Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5890629

The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5890629

Necroptosis and its role in inflammation

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5890629

New players driving inflammation in monogenic autoinflammatory diseases

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5890629

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5890629

A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD).

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5890629

Necroptosis: the release of damage-associated molecular patterns and its physiological relevance

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5890629

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5890629

A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5890629

Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5890629

tRNAs marked with CCACCA are targeted for degradation

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5890629

Dynamics of the degradation of ubiquitinated proteins by proteasomes and autophagy: association with sequestosome 1/p62.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5890629

Autophagy proteins regulate innate immune responses by inhibiting the release of mitochondrial DNA mediated by the NALP3 inflammasome

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5890629

A role for mitochondria in NLRP3 inflammasome activation

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5890629

Mechanisms of cross-talk between the ubiquitin-proteasome and autophagy-lysosome systems

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5890629

Natural killer cells are polarized toward cytotoxicity in chronic hepatitis C in an interferon-alfa-dependent manner

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5890629

Necrosis is associated with IL-6 production but apoptosis is not.

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5890629

IL-6 mediates hypoferremia of inflammation by inducing the synthesis of the iron regulatory hormone hepcidin

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5890629

Crystal structure of the human CCA-adding enzyme: insights into template-independent polymerization

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5890629

RIP kinase-dependent necrosis drives lethal systemic inflammatory response syndrome

30 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5890629

Homozygous N-terminal missense mutation in TRNT1 leads to progressive B-cell immunodeficiency in adulthood

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5890629

10.1136/ANNRHEUMDIS-2017-212401

30 November 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29358286%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29358286%20AND%20SRC:MED&resulttype=core&format=json

9 April 2020

1 reference