Ruti Parvari相关文献与解析，生知库 | 链接生命科学的每一步

Functional defects in hiPSCs-derived cardiomyocytes from patients with a PLEKHM2-mutation associated with dilated cardiomyopathy and left ventricular non-compaction

患有扩张型心肌病和左心室致密化不全的 PLEKHM2 突变患者的 hiPSC 衍生心肌细胞存在功能缺陷

Nataly Korover, Sharon Etzion, Alexander Cherniak, Tatiana Rabinski, Aviva Levitas, Yoram Etzion, Rivka Ofir, Ruti Parvari, Smadar Cohen

心血管

A Missense Variation in PHACTR2 Associates with Impaired Actin Dynamics, Dilated Cardiomyopathy, and Left Ventricular Non-Compaction in Humans

PHACTR2 的错义变异与人类肌动蛋白动力学受损、扩张型心肌病和左心室致密化不全有关

期刊:International Journal of Molecular Sciences

影响因子:0.7

doi:10.3390/ijms24021388

Pierre Majdalani, Aviva Levitas, Hanna Krymko, Leonel Slanovic, Alex Braiman, Uzi Hadad, Salam Dabsan, Amir Horev, Raz Zarivach, Ruti Parvari

Dock10 Regulates Cardiac Function under Neurohormonal Stress

Dock10 在神经激素应激下调节心脏功能

期刊:International Journal of Molecular Sciences

影响因子:0.7

doi:10.3390/ijms23179616

Liad Segal, Sharon Etzion, Sigal Elyagon, Moran Shahar, Hadar Klapper-Goldstein, Aviva Levitas, Michael S Kapiloff, Ruti Parvari, Yoram Etzion

神经

发表日期：2022

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Pathogenic variations in Germ Cell Nuclear Acidic Peptidase (GCNA) are associated with human male infertility

生殖细胞核酸肽酶（GCNA）的致病性变异与男性不育有关。

期刊:European Journal of Human Genetics

影响因子:3.7

doi:10.1038/s41431-021-00946-2

Maram Arafat # ，Sandra E Kleiman # ，Ali AbuMadighem ，Atif Zeadna ，Eliahu Levitas ，Iris Har Vardi ，Shimi Barda ，Ofer Lehavi ，Ron Hauser ，Eitan Lunenfeld ，Mahmoud Huleihel ，Moran Gershoni ，Ruti Parvari

Human

发表日期：2021

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A Novel Recessive Mutation in SPEG Causes Early Onset Dilated Cardiomyopathy

SPEG 中的一种新型隐性突变可导致早发性扩张型心肌病

期刊:PLoS Genetics

影响因子:

doi:10.1371/journal.pgen.1009000

Aviva Levitas, Emad Muhammad, Yuan Zhang, Isaac Perea Gil, Ricardo Serrano, Nashielli Diaz, Maram Arafat, Alexandra A Gavidia, Michael S Kapiloff, Mark Mercola, Yoram Etzion, Ruti Parvari, Ioannis Karakikes

PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction

PLEKHM2 突变导致溶酶体定位异常、自噬通量受损并与隐性扩张型心肌病和左心室心肌致密化不全相关

期刊:Human Molecular Genetics

影响因子:3.1

doi:10.1093/hmg/ddv423

Emad Muhammad, Aviva Levitas, Sonia R Singh, Alex Braiman, Rivka Ofir, Sharon Etzion, Val C Sheffield, Yoram Etzion, Lucie Carrier, Ruti Parvari

Essential role of carbonic anhydrase XII in secretory gland fluid and HCO3 (-) secretion revealed by disease causing human mutation

致病人类突变揭示碳酸酐酶 XII 在分泌腺液和 HCO3 (-) 分泌中的重要作用

期刊:Journal of Physiology-London

影响因子:2.1

doi:10.1113/JP271378

Jeong Hee Hong, Emad Muhammad, Changyu Zheng, Eli Hershkovitz, Soliman Alkrinawi, Neta Loewenthal, Ruti Parvari, Shmuel Muallem

Human calmodulin methyltransferase: expression, activity on calmodulin, and Hsp90 dependence

人类钙调蛋白甲基转移酶：表达、钙调蛋白活性和 Hsp90 依赖性

期刊:PLoS One

影响因子:2.9

doi:10.1371/journal.pone.0052425

Sophia Magen, Roberta Magnani, Sitvanit Haziza, Eli Hershkovitz, Robert Houtz, Franca Cambi, Ruti Parvari

Human

发表日期：2012

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Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1

由编码运动蛋白轻链 1 的 DNAL1 纯合突变引起的原发性纤毛运动障碍

期刊:American Journal of Human Genetics

影响因子:8.1

doi:10.1016/j.ajhg.2011.03.018

Masha Mazor, Soliman Alkrinawi, Vered Chalifa-Caspi, Esther Manor, Val C Sheffield, Micha Aviram, Ruti Parvari

信号转导

发表日期：2011

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Plekhm2 acts as an autophagy modulator in murine heart and cardiofibroblasts

Plekhm2 在小鼠心脏和心脏成纤维细胞中充当自噬调节剂

Functional defects in hiPSCs-derived cardiomyocytes from patients with a PLEKHM2-mutation associated with dilated cardiomyopathy and left ventricular non-compaction

患有扩张型心肌病和左心室致密化不全的 PLEKHM2 突变患者的 hiPSC 衍生心肌细胞存在功能缺陷

A Missense Variation in PHACTR2 Associates with Impaired Actin Dynamics, Dilated Cardiomyopathy, and Left Ventricular Non-Compaction in Humans

PHACTR2 的错义变异与人类肌动蛋白动力学受损、扩张型心肌病和左心室致密化不全有关

Dock10 Regulates Cardiac Function under Neurohormonal Stress

Dock10 在神经激素应激下调节心脏功能

Pathogenic variations in Germ Cell Nuclear Acidic Peptidase (GCNA) are associated with human male infertility

生殖细胞核酸肽酶（GCNA）的致病性变异与男性不育有关。

A Novel Recessive Mutation in SPEG Causes Early Onset Dilated Cardiomyopathy

SPEG 中的一种新型隐性突变可导致早发性扩张型心肌病

PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction

PLEKHM2 突变导致溶酶体定位异常、自噬通量受损并与隐性扩张型心肌病和左心室心肌致密化不全相关

Essential role of carbonic anhydrase XII in secretory gland fluid and HCO3 (-) secretion revealed by disease causing human mutation

致病人类突变揭示碳酸酐酶 XII 在分泌腺液和 HCO3 (-) 分泌中的重要作用

Human calmodulin methyltransferase: expression, activity on calmodulin, and Hsp90 dependence

人类钙调蛋白甲基转移酶：表达、钙调蛋白活性和 Hsp90 依赖性

Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1

由编码运动蛋白轻链 1 的 DNAL1 纯合突变引起的原发性纤毛运动障碍