Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome. (Q30371093)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

case report

0 references

title

Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

Determinants of brachial-ankle pulse wave velocity and carotid-femoral pulse wave velocity in healthy Koreans.

28 February 2020

16

object named as

Shin Yi Jang

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

24

Duk-Kyung Kim

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

14

Yong Seok Lee

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

author name string

Mi-Ae Jang

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Eun Kyoung Kim

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Hesung Now

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Nhung T H Nguyen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Woo-Jong Kim

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Joo-Yeon Yoo

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Jinhyuk Lee

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Yun-Mi Jeong

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Cheol-Hee Kim

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Ok-Hwa Kim

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Seongsoo Sohn

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Seong-Hyeuk Nam

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Yoojin Hong

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Jong-Won Kim

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Myung-Shik Lee

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

So Young Lim

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Ki-Sun Sung

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Ki-Tae Park

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Byoung Joon Kim

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Joo-Heung Lee

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Changwon Kee

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

Chang-Seok Ki

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

language of work or name

English

0 references

publication date

22 January 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

28 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

volume

96

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

page(s)

266-274

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

28 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=4320253

Autoimmune disorders associated with gain of function of the intracellular sensor MDA5.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320253

Defining the functional determinants for RNA surveillance by RIG-I

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320253

5'-Triphosphate-RNA-independent activation of RIG-I via RNA aptamer with enhanced antiviral 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=4320253

Structural basis for the activation of innate immune pattern-recognition receptor RIG-I by viral RNA

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320253

Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320253

Retinoic acid inducible gene-I, more than a virus sensor

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320253

Molecular imaging insights into early inflammatory stages of arterial and aortic valve calcification

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320253

Inflammation and the osteogenic regulation of vascular calcification: a review and perspective

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320253

CHARMM: the biomolecular simulation program

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320253

Identification of loss of function mutations in human genes encoding RIG-I and MDA5: implications for resistance to type I diabetes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320253

Intermediate vimentin filaments and their role in intracellular organelle distribution

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320253

The RNA helicase RIG-I has an essential function in double-stranded RNA-induced innate antiviral responses

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320253

Accumulation of mutant myocilins in ER leads to ER stress and potential cytotoxicity in human trabecular meshwork cells

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320253

Identification of a gene that causes primary open angle glaucoma.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320253

An unusual syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320253

A Syndrome of Widened Medullary Cavities of Bone, Aortic Calcification, Abnormal Dentition, and Muscular Weakness (The Singleton—Merten 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=4320253

Singleton-merten syndrome and impaired cardiac function.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320253

Aortic Msx2-Wnt calcification cascade is regulated by TNF-alpha-dependent signals in diabetic Ldlr-/- mice.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320253

Generalized born model with a simple smoothing function.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320253

Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320253

Trabecular meshwork cellularity in primary open-angle glaucoma and nonglaucomatous normals

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25620203

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Singleton-Merten syndrome: an autosomal dominant disorder with variable expression

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25620203

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2014.11.019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25620203%20AND%20SRC:MED&resulttype=core&format=json

28 February 2020

1 reference