Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation
about
Editing independent effects of ADARs on the miRNA/siRNA pathwaysMutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signatureMolecular diversity through RNA editing: a balancing act.Five novel mutations in the ADAR1 gene associated with dyschromatosis symmetrica hereditaria.Oligophrenin-1 (OPHN1), a gene involved in X-linked intellectual disability, undergoes RNA editing and alternative splicing during human brain development.Transcriptome-wide identification of adenosine-to-inosine editing using the ICE-seq method.A Phenotypic Screen for Functional Mutants of Human Adenosine Deaminase Acting on RNA 1.Mechanistic insights into editing-site specificity of ADARs.A biochemical landscape of A-to-I RNA editing in the human brain transcriptome.Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.ADARs: allies or enemies? The importance of A-to-I RNA editing in human disease: from cancer to HIV-1.Dyschromatosis symmetrica hereditaria.Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes.Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.A to I editing in disease is not fake news.Clinical and Genetic Review of Hereditary Acral Reticulate Pigmentary Disorders.A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.Analysis of genotype/phenotype correlations in Japanese patients with dyschromatosis symmetrica hereditaria.
P2860
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P2860
Dystonia, mental deterioration, and dyschromatosis symmetrica hereditaria in a family with ADAR1 mutation
description
2006 nî lūn-bûn
@nan
2006 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Dystonia, mental deterioration ...... n a family with ADAR1 mutation
@ast
Dystonia, mental deterioration ...... n a family with ADAR1 mutation
@en
Dystonia, mental deterioration ...... n a family with ADAR1 mutation
@nl
type
label
Dystonia, mental deterioration ...... n a family with ADAR1 mutation
@ast
Dystonia, mental deterioration ...... n a family with ADAR1 mutation
@en
Dystonia, mental deterioration ...... n a family with ADAR1 mutation
@nl
prefLabel
Dystonia, mental deterioration ...... n a family with ADAR1 mutation
@ast
Dystonia, mental deterioration ...... n a family with ADAR1 mutation
@en
Dystonia, mental deterioration ...... n a family with ADAR1 mutation
@nl
P2093
P356
P1433
P1476
Dystonia, mental deterioration ...... n a family with ADAR1 mutation
@en
P2093
Kunihiro Yoshida
Noriyuki Suzuki
Shu-Ichi Ikeda
Takao Hashimoto
Tamio Suzuki
Yasushi Tomita
Yoshiki Sekijima
P2860
P304
P356
10.1002/MDS.21011
P407
P577
2006-09-01T00:00:00Z