(Q34459602)

2 August 2017

title

A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome (English)

1 reference

2 August 2017

Hans Gerd Kehl

9

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Gillian I. Rice

object named as

Gillian I Rice

7

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Yanick J. Crow

object named as

Yanick J Crow

13

0 references

Peter Nürnberg

11

object named as

Peter Nürnberg

1 reference

2 August 2017

1

Frank Rutsch

1 reference

2 August 2017

10

Holger Thiele

1 reference

2 August 2017

Mary MacDougall

2

1 reference

2 August 2017

Changming Lu

3

1 reference

2 August 2017

Insa Buers

4

1 reference

2 August 2017

Olga Mamaeva

5

1 reference

2 August 2017

Yvonne Nitschke

6

1 reference

2 August 2017

Heidi Erlandsen

8

1 reference

2 August 2017

Wolfgang Höhne

12

1 reference

2 August 2017

Annette Feigenbaum

14

1 reference

2 August 2017

Raoul C Hennekam

15

1 reference

2 August 2017

language of work or name

English

0 references

publication date

22 January 2015

1 reference

American Journal of Human Genetics

2 August 2017

published in

1 reference

2 August 2017

volume

96

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2 August 2017

issue

2

1 reference

2 August 2017

page(s)

275-282

1 reference

Aicardi-Goutières syndrome is caused by IFIH1 mutations.

2 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320263

Association of innate immune IFIH1 gene polymorphisms with dilated cardiomyopathy in a Chinese population

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320263

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320263

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320263

Cytosolic sensing of viruses

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320263

Structural basis for dsRNA recognition, filament formation, and antiviral signal activation by MDA5

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320263

Functional analysis of the RNF114 psoriasis susceptibility gene implicates innate immune responses to double-stranded RNA in disease pathogenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320263

A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.

6 July 2018

1 reference

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320263

Fast and accurate short read alignment with Burrows-Wheeler transform

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320263

Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320263

A human type 1 diabetes susceptibility locus maps to chromosome 21q22.3

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320263

A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320263

The DEAD-box protein family of RNA helicases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320263

DExD/H box RNA helicases: from generic motors to specific dissociation functions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320263

Distinct and essential roles of transcription factors IRF-3 and IRF-7 in response to viruses for IFN-alpha/beta gene induction

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320263

Helicase motifs: the engine that powers DNA unwinding

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320263

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320263

Establishment of Singleton-Merten syndrome pulp cells: evidence of mineralization dysregulation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320263

Sequencing-based approach identified three new susceptibility loci for psoriasis

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320263

Association study of IFIH1 rs1990760 polymorphism with systemic lupus erythematosus in a Chinese population.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320263

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4320263

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

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25620204

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2014.12.014

1 reference

2 August 2017

1 reference

2 August 2017

1 reference