DExD/H-box RNA helicases (DDX/DHX) are encoded by a large paralogous gene family; in a subset of these human helicase genes, path-ogenic variation causes neurodevelopmental disorder (NDD) traits and cancer. DHX9 encodes a BRCA1-interacting nuclear helicase regu-lating transcription, R-loops, and homologous recombination and exhibits the highest mutational constraint of all DDX/DHX paralogs but remains unassociated with disease traits in OMIM

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease / Daniel G Calame 1 , Tianyu Guo 2 , Chen Wang 2 , Lillian Garrett 3 , Angad Jolly 4 , Moez Dawood 5 , Alina Kurolap 6 , Noa Zunz Henig 6 , Jawid M Fatih , Isabella Herman , Haowei Du , Tadahiro Mitani , Lore Becker , Birgit Rathkolb , Raffaele Gerlini , Claudia Seisenberger , Susan Marschall , Jill V Hunter , Amanda Gerard , Alexis Heidlebaugh , Thomas Challman , Rebecca C Spillmann , Shalini N Jhangiani , Zeynep Coban-Akdemir , Seema Lalani , Lingxiao Liu , Anya Revah-Politi , Alejandro Iglesias , Edwin Guzman , Evan Baugh , Nathalie Boddaert , Sophie Rondeau , Clothide Ormieres , Giulia Barcia , Queenie K G Tan , Isabelle Thiffault , Tomi Pastinen , Kazim Sheikh , Suur Biliciler , Davide Mei , Federico Melani , Vandana Shashi , Yuval Yaron , Mary Steele , Emma Wakeling , Elsebet Østergaard , Lusine Nazaryan-Petersen ; Undiagnosed Diseases Network; Francisca Millan , Teresa Santiago-Sim , Julien Thevenon , Ange-Line Bruel , Christel Thauvin-Robinet , Denny Popp , Konrad Platzer , Pawel Gawlinski , Wojciech Wiszniewski , Dana Marafi , Davut Pehlivan , Jennifer E Posey , Richard A Gibbs , Valerie Gailus-Durner , Renzo Guerrini , Helmut Fuchs , Martin Hrabě de Angelis , Sabine M Hölter , Hoi-Hung Cheung , Shen Gu , James R Lupski. - In: AMERICAN JOURNAL OF HUMAN GENETICS. - ISSN 0002-9297. - ELETTRONICO. - 110:(2023), pp. 1394-1413. [10.1016/j.ajhg.2023.06.013]

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

Davide Mei;Federico Melani;Renzo Guerrini;
2023

Abstract

DExD/H-box RNA helicases (DDX/DHX) are encoded by a large paralogous gene family; in a subset of these human helicase genes, path-ogenic variation causes neurodevelopmental disorder (NDD) traits and cancer. DHX9 encodes a BRCA1-interacting nuclear helicase regu-lating transcription, R-loops, and homologous recombination and exhibits the highest mutational constraint of all DDX/DHX paralogs but remains unassociated with disease traits in OMIM
2023
110
1394
1413
Daniel G Calame 1 , Tianyu Guo 2 , Chen Wang 2 , Lillian Garrett 3 , Angad Jolly 4 , Moez Dawood 5 , Alina Kurolap 6 , Noa Zunz Henig 6 , Jawi...espandi
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/1328296
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