Ontology highlight
ABSTRACT:
SUBMITTER: Lessel D
PROVIDER: S-EPMC7670403 | biostudies-literature | 2020 Nov
REPOSITORIES: biostudies-literature
Lessel Davor D Zeitler Daniela M DM Reijnders Margot R F MRF Kazantsev Andriy A Hassani Nia Fatemeh F Bartholomäus Alexander A Martens Victoria V Bruckmann Astrid A Graus Veronika V McConkie-Rosell Allyn A McDonald Marie M Lozic Bernarda B Tan Ee-Shien ES Gerkes Erica E Johannsen Jessika J Denecke Jonas J Telegrafi Aida A Zonneveld-Huijssoon Evelien E Lemmink Henny H HH Cham Breana W M BWM Kovacevic Tanja T Ramsdell Linda L Foss Kimberly K Le Duc Diana D Mitter Diana D Syrbe Steffen S Merkenschlager Andreas A Sinnema Margje M Panis Bianca B Lazier Joanna J Osmond Matthew M Hartley Taila T Mortreux Jeremie J Busa Tiffany T Missirian Chantal C Prasun Pankaj P Lüttgen Sabine S Mannucci Ilaria I Lessel Ivana I Schob Claudia C Kindler Stefan S Pappas John J Rabin Rachel R Willemsen Marjolein M Gardeitchik Thatjana T Löhner Katharina K Rump Patrick P Dias Kerith-Rae KR Evans Carey-Anne CA Andrews Peter Ian PI Roscioli Tony T Brunner Han G HG Chijiwa Chieko C Lewis M E Suzanne MES Jamra Rami Abou RA Dyment David A DA Boycott Kym M KM Stegmann Alexander P A APA Kubisch Christian C Tan Ene-Choo EC Mirzaa Ghayda M GM McWalter Kirsty K Kleefstra Tjitske T Pfundt Rolph R Ignatova Zoya Z Meister Gunter G Kreienkamp Hans-Jürgen HJ
Nature communications 20201116 1
ARGONAUTE-2 and associated miRNAs form the RNA-induced silencing complex (RISC), which targets mRNAs for translational silencing and degradation as part of the RNA interference pathway. Despite the essential nature of this process for cellular function, there is little information on the role of RISC components in human development and organ function. We identify 13 heterozygous mutations in AGO2 in 21 patients affected by disturbances in neurological development. Each of the identified single a ...[more]