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Literature DB >> 26802932

Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations.

Michihiro Kono¹, Fumihiro Matsumoto², Yasuhiro Suzuki², Mutsumi Suganuma¹, Hirotomo Saitsu³, Yasutomo Ito⁴, Sakuhei Fujiwara⁵, Shinichi Moriwaki⁶, Kazuhiko Matsumoto⁷, Naomichi Matsumoto³, Yasushi Tomita¹, Kazumitsu Sugiura¹, Masashi Akiyama⁸.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2016 PMID： 26802932 DOI： 10.1016/j.jid.2015.12.034

Source DB: PubMed Journal: J Invest Dermatol ISSN： 0022-202X Impact factor: 8.551

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Cited

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9 in total

Review 1. Monogenic Lupus.

Authors: Mindy S Lo
Journal: Curr Rheumatol Rep Date: 2016-12 Impact factor: 4.592

2. Case Report: Aicardi-Goutières Syndrome Type 6 and Dyschromatosis Symmetrica Hereditaria With Congenital Heart Disease and Mitral Valve Calcification - Phenotypic Variants Caused by Adenosine Deaminase Acting on the RNA 1 Gene Homozygous Mutations.

Authors: Lingjuan Liu; Lu Zhang; Peng Huang; Jie Xiong; Yangyang Xiao; Cheng Wang; Dingan Mao; Liqun Liu
Journal: Front Pediatr Date: 2022-06-27 Impact factor: 3.569

Review 3. Autoimmunity and Cancer-Two Sides of the Same Coin.

Authors: Justyna Sakowska; Łukasz Arcimowicz; Martyna Jankowiak; Ines Papak; Aleksandra Markiewicz; Katarzyna Dziubek; Małgorzata Kurkowiak; Sachin Kote; Karolina Kaźmierczak-Siedlecka; Karol Połom; Natalia Marek-Trzonkowska; Piotr Trzonkowski
Journal: Front Immunol Date: 2022-05-13 Impact factor: 8.786

4. Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

Authors: Gillian I Rice; Naoki Kitabayashi; Magalie Barth; Tracy A Briggs; Annabel C E Burton; Maria Luisa Carpanelli; Alfredo M Cerisola; Cindy Colson; Russell C Dale; Federica Rachele Danti; Niklas Darin; Begoña De Azua; Valentina De Giorgis; Christian G L De Goede; Isabelle Desguerre; Corinne De Laet; Atieh Eslahi; Michael C Fahey; Penny Fallon; Alex Fay; Elisa Fazzi; Mark P Gorman; Nirmala Rani Gowrinathan; Marie Hully; Manju A Kurian; Nicolas Leboucq; Jean-Pierre S-M Lin; Matthew A Lines; Soe S Mar; Reza Maroofian; Laura Martí-Sanchez; Gary McCullagh; Majid Mojarrad; Vinodh Narayanan; Simona Orcesi; Juan Dario Ortigoza-Escobar; Belén Pérez-Dueñas; Florence Petit; Keri M Ramsey; Magnhild Rasmussen; François Rivier; Pilar Rodríguez-Pombo; Agathe Roubertie; Tommy I Stödberg; Mehran Beiraghi Toosi; Annick Toutain; Florence Uettwiller; Nicole Ulrick; Adeline Vanderver; Amy Waldman; John H Livingston; Yanick J Crow
Journal: Neuropediatrics Date: 2017-04-10 Impact factor: 1.947

Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations.

Review 1. Monogenic Lupus.

2. Case Report: Aicardi-Goutières Syndrome Type 6 and Dyschromatosis Symmetrica Hereditaria With Congenital Heart Disease and Mitral Valve Calcification - Phenotypic Variants Caused by Adenosine Deaminase Acting on the RNA 1 Gene Homozygous Mutations.

Review 3. Autoimmunity and Cancer-Two Sides of the Same Coin.

4. Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease.

Review 5. Functions of the RNA Editing Enzyme ADAR1 and Their Relevance to Human Diseases.

6. Analysis of genotype/phenotype correlations in Japanese patients with dyschromatosis symmetrica hereditaria.

Review 7. Clinical and Genetic Review of Hereditary Acral Reticulate Pigmentary Disorders.

Review 8. Dermatologic and Dermatopathologic Features of Monogenic Autoinflammatory Diseases.

Review 9. The role of RNA editing enzyme ADAR1 in human disease.