PMC Links for OMIM (Select 601218) - PMC

Select item 83274081.

Biallelic variants in ADARB1, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy

Reza Maroofian, Jiří Sedmík, Neda Mazaheri, Marcello Scala, Maha S Zaki, Liam P Keegan, Reza Azizimalamiri, Mahmoud Issa, Gholamreza Shariati, Alireza Sedaghat, Christian Beetz, Peter Bauer, Hamid Galehdari, Mary A O’Connell, Henry Houlden

J Med Genet. 2021 Jul; 58(7): 495–504. Published online 2020 Jul 27. doi: 10.1136/jmedgenet-2020-107048

PMCID:: PMC8327408

Abstract Article PDF–1.8M

Select item 71185842.

Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures

Tiong Yang Tan, Jiří Sedmík, Mark P. Fitzgerald, Rivka Sukenik Halevy, Liam P. Keegan, Ingo Helbig, Lina Basel-Salmon, Lior Cohen, Rachel Straussberg, Wendy K. Chung, Mayada Helal, Reza Maroofian, Henry Houlden, Jane Juusola, Simon Sadedin, Lynn Pais, Katherine B. Howell, Susan M. White, John Christodoulou, Mary A. O’Connell

Am J Hum Genet. 2020 Apr 2; 106(4): 467–483. Published online 2020 Mar 26. doi: 10.1016/j.ajhg.2020.02.015

PMCID:: PMC7118584

Abstract Article PDF–3.3M

Select item 57234353.

Dynamic landscape and regulation of RNA editing in mammals

Meng How Tan, Qin Li, Raghuvaran Shanmugam, Robert Piskol, Jennefer Kohler, Amy N. Young, Kaiwen Ivy Liu, Rui Zhang, Gokul Ramaswami, Kentaro Ariyoshi, Ankita Gupte, Liam P. Keegan, Cyril X. George, Avinash Ramu, Ni Huang, Elizabeth A. Pollina, Dena S. Leeman, Alessandra Rustighi, Y. P. Sharon Goh, GTEx Consortium, Ajay Chawla, Giannino Del Sal, Gary Peltz, Anne Brunet, Donald F. Conrad, Charles E. Samuel, Mary A. O’Connell, Carl R. Walkley, Kazuko Nishikura, Jin Billy Li

Nature. Author manuscript; available in PMC 2017 Dec 10.

Published in final edited form as: Nature. 2017 Oct 11; 550(7675): 249–254. doi: 10.1038/nature24041

PMCID:: PMC5723435

Abstract Article PDF–4.9M

Select item 18509594.

Inositol Hexakisphosphate Is Bound in the ADAR2 Core and Required for RNA Editing

Mark R. Macbeth, Heidi L. Schubert, Andrew P. VanDemark, Arunth T. Lingam, Christopher P. Hill, Brenda L. Bass

Science. Author manuscript; available in PMC 2007 Apr 10.

Published in final edited form as: Science. 2005 Sep 2; 309(5740): 1534–1539. doi: 10.1126/science.1113150

PMCID:: PMC1850959

Abstract Article PDF–1.5M

Select item 2320905.

Editing of glutamate receptor B subunit ion channel RNAs by four alternatively spliced DRADA2 double-stranded RNA adenosine deaminases.

F Lai, C X Chen, K C Carter, K Nishikura

Mol Cell Biol. 1997 May; 17(5): 2413–2424. doi: 10.1128/mcb.17.5.2413

PMCID:: PMC232090

Summary PDF–758K

Select item 207266.

Purification and characterization of a human RNA adenosine deaminase for glutamate receptor B pre-mRNA editing

Jing-Hua Yang, Pamela Sklar, Richard Axel, Tom Maniatis

Proc Natl Acad Sci U S A. 1997 Apr 29; 94(9): 4354–4359. doi: 10.1073/pnas.94.9.4354

PMCID:: PMC20726

Abstract Article PDF–361K

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