日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language (NEDMIAL) Due to DHX30 Mutations: First Indian Report of Two Cases

由DHX30基因突变引起的伴有严重运动障碍和语言缺失的神经发育障碍(NEDMIAL):印度首例两例病例报告

Gunasekaran, Pradeep Kumar; Sharma, Yashu; Bhatia, Vikas; Saini, Arushi Gahlot

A Novel De Novo Mutation of the DHX30 Gene in a Patient With Neurodevelopmental Disorder, Severe Motor Impairment, and Absent Language (NEDMIAL)

神经发育障碍、严重运动障碍和语言缺失(NEDMIAL)患者中DHX30基因的新型从头突变

Alomaim, Mohammad M; Mushiba, Aziza M

Seneca Valley Virus Induces DHX30 Cleavage to Antagonize Its Antiviral Effects

塞内卡谷病毒诱导DHX30裂解以拮抗其抗病毒作用

Wei Wen ,Zixuan Zheng ,Haoyuan Wang ,Qiongqiong Zhao ,Mengge Yin ,Huanchun Chen ,Xiangmin Li ,Ping Qian

Conformational change of RNA-helicase DHX30 by ALS/FTD-linked FUS induces mitochondrial dysfunction and cytosolic aggregates

ALS/FTD相关FUS引起的RNA解旋酶DHX30构象变化可导致线粒体功能障碍和胞质聚集。

Hikiami, Ryota; Morimura, Toshifumi; Ayaki, Takashi; Tsukiyama, Tomoyuki; Morimura, Naoko; Kusui, Makiko; Wada, Hideki; Minamiyama, Sumio; Shodai, Akemi; Asada-Utsugi, Megumi; Muramatsu, Shin-Ichi; Ueki, Takatoshi; Takahashi, Ryosuke; Urushitani, Makoto

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

DHX30 相关神经发育障碍的基因型-表型相关性和新分子见解

Ilaria Mannucci, Nghi D P Dang, Hannes Huber, Jaclyn B Murry, Jeff Abramson, Thorsten Althoff, Siddharth Banka, Gareth Baynam, David Bearden, Ana Beleza-Meireles, Paul J Benke, Siren Berland, Tatjana Bierhals, Frederic Bilan, Laurence A Bindoff, Geir Julius Braathen, Øyvind L Busk, Jirat Chenbhanich

A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30

一名日本成年人和两名女孩患有由DHX30基因新生错义突变引起的NEDMIAL

Ueda, Kimiko; Araki, Atsushi; Fujita, Atsushi; Matsumoto, Naomichi; Uehara, Tomoko; Suzuki, Hisato; Takenouchi, Toshiki; Kosaki, Kenjiro; Okamoto, Nobuhiko

DHX30 Coordinates Cytoplasmic Translation and Mitochondrial Function Contributing to Cancer Cell Survival

DHX30 协调细胞质翻译和线粒体功能,促进癌细胞存活

Bartolomeo Bosco, Annalisa Rossi, Dario Rizzotto, Meriem Hadjer Hamadou, Alessandra Bisio, Sebastiano Giorgetta, Alicia Perzolli, Francesco Bonollo, Angeline Gaucherot, Frédéric Catez, Jean-Jacques Diaz, Erik Dassi, Alberto Inga

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

DHX30基因的新生错义突变会损害整体翻译并导致神经发育障碍

Lessel, Davor; Schob, Claudia; Küry, Sébastien; Reijnders, Margot R F; Harel, Tamar; Eldomery, Mohammad K; Coban-Akdemir, Zeynep; Denecke, Jonas; Edvardson, Shimon; Colin, Estelle; Stegmann, Alexander P A; Gerkes, Erica H; Tessarech, Marine; Bonneau, Dominique; Barth, Magalie; Besnard, Thomas; Cogné, Benjamin; Revah-Politi, Anya; Strom, Tim M; Rosenfeld, Jill A; Yang, Yaping; Posey, Jennifer E; Immken, LaDonna; Oundjian, Nelly; Helbig, Katherine L; Meeks, Naomi; Zegar, Kelsey; Morton, Jenny; The Ddd Study; Schieving, Jolanda H; Claasen, Ana; Huentelman, Matthew; Narayanan, Vinodh; Ramsey, Keri; Brunner, Han G; Elpeleg, Orly; Mercier, Sandra; Bézieau, Stéphane; Kubisch, Christian; Kleefstra, Tjitske; Kindler, Stefan; Lupski, James R; Kreienkamp, Hans-Jürgen

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

DHX30基因的新生错义突变会损害整体翻译并导致神经发育障碍

Davor Lessel ,Claudia Schob ,Sébastien Küry ,Margot R F Reijnders ,Tamar Harel ,Mohammad K Eldomery ,Zeynep Coban-Akdemir ,Jonas Denecke ,Shimon Edvardson ,Estelle Colin ,Alexander P A Stegmann ,Erica H Gerkes ,Marine Tessarech ,Dominique Bonneau ,Magalie Barth ,Thomas Besnard ,Benjamin Cogné ,Anya Revah-Politi ,Tim M Strom ,Jill A Rosenfeld ,Yaping Yang ,Jennifer E Posey ,LaDonna Immken ,Nelly Oundjian ,Katherine L Helbig ,Naomi Meeks ,Kelsey Zegar ,Jenny Morton ,Ana Claasen ,Matthew Huentelman ,Vinodh Narayanan ,Keri Ramsey ,Orly Elpeleg ,Sandra Mercier ,Stéphane Bézieau ,Christian Kubisch ,Tjitske Kleefstra ,Stefan Kindler ,James R Lupski ,Hans-Jürgen Kreienkamp

HIV-1 and two avian retroviral 5' untranslated regions bind orthologous human and chicken RNA binding proteins

HIV-1 和两种禽类逆转录病毒 5' 非翻译区与人类和鸡的直系同源 RNA 结合蛋白结合

Matthew Stake, Deepali Singh, Gatikrushna Singh, J Marcela Hernandez, Rebecca Kaddis Maldonado, Leslie J Parent, Kathleen Boris-Lawrie