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

Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA

肽酶 ClpP 失活导致线粒体解聚酶 ClpX 及其相互作用的核蛋白和线粒体 DNA 的初级积累

Jana Key, Sylvia Torres-Odio, Nina C Bach, Suzana Gispert, Gabriele Koepf, Marina Reichlmeir, A Phillip West, Holger Prokisch, Peter Freisinger, William G Newman, Stavit Shalev, Stephan A Sieber, Ilka Wittig, Georg Auburger

A truncating MEIOB mutation responsible for familial primary ovarian insufficiency abolishes its interaction with its partner SPATA22 and their recruitment to DNA double-strand breaks

导致家族性原发性卵巢功能不全的截短型 MEIOB 突变会消除其与伴侣 SPATA22 的相互作用以及它们对 DNA 双链断裂的募集

Sandrine Caburet, Anne-Laure Todeschini, Cynthia Petrillo, Emmanuelle Martini, Nada D Farran, Bérangère Legois, Gabriel Livera, Johnny S Younis, Stavit Shalev, Reiner A Veitia

Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1

肿瘤抑制基因 BRCA1 纯合无义突变的存活机制

Aaron Seo, Orna Steinberg-Shemer, Sule Unal, Silvia Casadei, Tom Walsh, Fatma Gumruk, Stavit Shalev, Akiko Shimamura, Nurten Ayse Akarsu, Hannah Tamary, Mary-Claire King

Sequence variation in PPP1R13L results in a novel form of cardio-cutaneous syndrome

PPP1R13L 序列变异导致一种新型心脏皮肤综合征

Tzipora C Falik-Zaccai, Yiftah Barsheshet, Hanna Mandel, Meital Segev, Avraham Lorber, Shachaf Gelberg, Limor Kalfon, Shani Ben Haroush, Adel Shalata, Liat Gelernter-Yaniv, Sarah Chaim, Dorith Raviv Shay, Morad Khayat, Michal Werbner, Inbar Levi, Yishay Shoval, Galit Tal, Stavit Shalev, Eli Reuveni,

Novel Homozygous Missense Mutation in SPG20 Gene Results in Troyer Syndrome Associated with Mitochondrial Cytochrome c Oxidase Deficiency

SPG20 基因中新的纯合错义突变导致与线粒体细胞色素 c 氧化酶缺乏相关的 Troyer 综合征

Ronen Spiegel, Devorah Soiferman, Avraham Shaag, Stavit Shalev, Orly Elpeleg, Ann Saada

ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size

ALFY 控制的 DVL3 自噬调节 Wnt 信号,决定人类大脑大小

Rotem Kadir, Tamar Harel, Barak Markus, Yonatan Perez, Anna Bakhrat, Idan Cohen, Michael Volodarsky, Miora Feintsein-Linial, Elana Chervinski, Joel Zlotogora, Sara Sivan, Ramon Y Birnbaum, Uri Abdu, Stavit Shalev, Ohad S Birk

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation

身材矮小、甲发育不良、面部畸形和毛发稀少综合征是由 POC1A 突变引起的

Ofer Sarig, Sagi Nahum, Debora Rapaport, Akemi Ishida-Yamamoto, Dana Fuchs-Telem, Li Qiaoli, Ksenya Cohen-Katsenelson, Ronen Spiegel, Janna Nousbeck, Shirli Israeli, Zvi-Uri Borochowitz, Gilly Padalon-Brauch, Jouni Uitto, Mia Horowitz, Stavit Shalev, Eli Sprecher

Alopecia, neurological defects, and endocrinopathy syndrome caused by decreased expression of RBM28, a nucleolar protein associated with ribosome biogenesis

RBM28(一种与核糖体生物合成相关的核仁蛋白)表达下降引起的脱发、神经系统缺陷和内分泌病综合征

Janna Nousbeck, Ronen Spiegel, Akemi Ishida-Yamamoto, Margarita Indelman, Ayelet Shani-Adir, Noam Adir, Ehud Lipkin, Sivan Bercovici, Dan Geiger, Maurice A van Steensel, Peter M Steijlen, Reuven Bergman, Albrecht Bindereif, Mordechai Choder, Stavit Shalev, Eli Sprecher

A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma

SNAP29 基因突变(编码参与细胞内运输的 SNARE 蛋白)可导致一种新型神经皮肤综合征,其特征为脑发育不良、神经病变、鱼鳞病和掌跖角化病

Eli Sprecher, Akemi Ishida-Yamamoto, Mordechai Mizrahi-Koren, Debora Rapaport, Dorit Goldsher, Margarita Indelman, Orit Topaz, Ilana Chefetz, Hanni Keren, Timothy J O'brien, Dani Bercovich, Stavit Shalev, Dan Geiger, Reuven Bergman, Mia Horowitz, Hanna Mandel