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

CAKUT variants in PRPF8, DYRK2, and CEP78: implications for splicing and ciliogenesis

PRPF8、DYRK2 和 CEP78 中的 CAKUT 变异:对剪接和纤毛发生的影响

Merz, Lea M; Shril, Shirlee; Carrocci, Tucker J; Rezi, Csenge K; Zeps, Natalie J; Jiménez-Izquierdo, Rafael; Bergmann, Florian; Petriman, Narcis Adrian; Kolvenbach, Caroline M; Mertens, Nils D; Johansen, Søren L; Halbritter, Jan; Hilger, Alina Christine; Mohiuddin, Shaikh Qureshi Wasay; Hentges, Kathryn E; Rasouly, Hila Milo; Gharavi, Ali G; Yoshida, Kiyotsugu; Lorentzen, Esben; Calzado, Marco; Kispert, Andreas; Yoshida, Saishu; Pedersen, Lotte B; Hoskins, Aaron A; Buerger, Florian; Hildebrandt, Friedhelm

Loss-of-function mutations in CEP78 cause male infertility in humans and mice

CEP78基因的功能缺失突变会导致人类和小鼠的雄性不育。

Xueguang Zhang ,Rui Zheng ,Chen Liang ,Haotian Liu ,Xiaozhen Zhang ,Yongyi Ma ,Mohan Liu ,Wei Zhang ,Yang Yang ,Man Liu ,Chuan Jiang ,Qingjia Ren ,Yan Wang ,Suren Chen ,Yihong Yang ,Ying Shen

CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels

CEP78位于CEP350的下游,通过负调控CP110水平来控制初级纤毛的生物合成。

André Brás Gonçalves ,Sarah Kirstine Hasselbalch # ,Beinta Biskopstø Joensen # ,Sebastian Patzke ,Pernille Martens ,Signe Krogh Ohlsen ,Mathieu Quinodoz ,Konstantinos Nikopoulos ,Reem Suleiman ,Magnus Per Damsø Jeppesen ,Catja Weiss ,Søren Tvorup Christensen ,Carlo Rivolta ,Jens S Andersen ,Pietro Farinelli ,Lotte Bang Pedersen

Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss

长读测序揭示导致视锥-视杆营养不良和听力损失的 CEP78 复杂结构变异

Giulia Ascari, Nanna D Rendtorff, Marieke De Bruyne, Julie De Zaeytijd, Michel Van Lint, Miriam Bauwens, Mattias Van Heetvelde, Gavin Arno, Julie Jacob, David Creytens, Jo Van Dorpe, Thalia Van Laethem, Toon Rosseel, Tim De Pooter, Peter De Rijk, Wouter De Coster, Björn Menten, Alfredo Dueñas Rey, M

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility

CEP78 中第一个错义变异的功能表征,该等位基因是与视锥细胞营养不良、听力丧失和男性生育能力下降相关的创始等位基因

Giulia Ascari, Frank Peelman, Pietro Farinelli, Toon Rosseel, Nina Lambrechts, Kirsten A Wunderlich, Matias Wagner, Konstantinos Nikopoulos, Pernille Martens, Irina Balikova, Lara Derycke, Gabriële Holtappels, Olga Krysko, Thalia Van Laethem, Sarah De Jaegere, Brecht Guillemyn, Riet De Rycke, Jan De

Centrosome Protein 78 Is Overexpressed in Muscle-Invasive Bladder Cancer and Is Associated with Tumor Molecular Subtypes and Mutation Signatures

着丝粒蛋白 78 在肌层浸润性膀胱癌中过表达且与肿瘤分子亚型和突变特征相关

Xiaoli Huang, Yang Yan, Rong Wei, Hu Liu, Xingchen Zhu, Dexi Bi, Qing Wei, Xudong Yao

CEP78 is mutated in a distinct type of Usher syndrome

CEP78基因突变与一种特殊的Usher综合征有关。

Fu, Qing; Xu, Mingchu; Chen, Xue; Sheng, Xunlun; Yuan, Zhisheng; Liu, Yani; Li, Huajin; Sun, Zixi; Li, Huiping; Yang, Lizhu; Wang, Keqing; Zhang, Fangxia; Li, Yumei; Zhao, Chen; Sui, Ruifang; Chen, Rui

Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss

编码中心体蛋白78的CEP78基因的双等位基因截断突变会导致视锥细胞-视杆细胞变性并伴有感音神经性听力损失。

Namburi, Prasanthi; Ratnapriya, Rinki; Khateb, Samer; Lazar, Csilla H; Kinarty, Yael; Obolensky, Alexey; Erdinest, Inbar; Marks-Ohana, Devorah; Pras, Eran; Ben-Yosef, Tamar; Newman, Hadas; Gross, Menachem; Swaroop, Anand; Banin, Eyal; Sharon, Dror

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects

CEP78 突变导致与初级纤毛缺陷相关的视锥细胞-视杆细胞营养不良和听力丧失

Konstantinos Nikopoulos, Pietro Farinelli, Basilio Giangreco, Chrysanthi Tsika, Beryl Royer-Bertrand, Martial K Mbefo, Nicola Bedoni, Ulrika Kjellström, Ikram El Zaoui, Silvio Alessandro Di Gioia, Sara Balzano, Katarina Cisarova, Andrea Messina, Sarah Decembrini, Sotiris Plainis, Styliani V Blazaki,

Cytoplasmic ATXN7L3B Interferes with Nuclear Functions of the SAGA Deubiquitinase Module

细胞质 ATXN7L3B 干扰 SAGA 去泛素化酶模块的核功能

Wenqian Li, Boyko S Atanassov, Xianjiang Lan, Ryan D Mohan, Selene K Swanson, Aimee T Farria, Laurence Florens, Michael P Washburn, Jerry L Workman, Sharon Y R Dent