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Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier?

Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier?

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Werner syndrome: Clinical features, pathogenesis and potential therapeutic interventions How Research on Human Progeroid and Antigeroid Syndromes Can Contribute to the Longevity Dividend Initiative WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations.

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Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier?

http://www.wikidata.org/entity/Q57755320

description

im Oktober 2014 veröffentlichter wissenschaftlicher Artikel

@de

scientific article published on 02 July 2014

@en

wetenschappelijk artikel

@nl

наукова стаття, опублікована в жовтні 2014

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name

Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier?

@en

Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier?

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type

label

Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier?

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Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier?

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prefLabel

Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier?

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Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier?

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American Journal of Medical Genetics

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Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier?

@en

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Bahar Kaymakamzade

http://www.w3.org/2001/XMLSchema#string

Bidisha Saha

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Christian Kubisch

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Fuki Hisama

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George M Martin

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Gulay Nurlu

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Holger Thiele

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Junko Oshima

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Peter Nürnberg

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Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

SAMHD1 restricts the replication of human immunodeficiency virus type 1 by depleting the intracellular pool of deoxynucleoside triphosphates

Nuclease activity of the human SAMHD1 protein implicated in the Aicardi-Goutieres syndrome and HIV-1 restriction.

SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage.

Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression

Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke

WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.

Aicardi-Goutières syndrome (AGS).

An apoptosis-inducing genotoxin differentiates heterozygotic carriers for Werner helicase mutations from wild-type and homozygous mutants.

Familial Aicardi-Goutières syndrome due toSAMHD1mutations is associated with chronic arthropathy and contractures

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2510-2513

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scholarly article

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10.1002/AJMG.A.36664

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10

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164A

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Y Gürsoy-Ozdemir

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2014-07-02T00:00:00Z

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24989684

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4167236

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