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

Transcriptome analysis of atad3-null zebrafish embryos elucidates possible disease mechanisms

对atad3基因敲除斑马鱼胚胎的转录组分析阐明了可能的疾病机制

Ezer, Shlomit; Ronin, Nathan; Yanovsky-Dagan, Shira; Rotem-Bamberger, Shahar; Halstuk, Orli; Wexler, Yair; Ben-Moshe, Zohar; Plaschkes, Inbar; Benyamini, Hadar; Saada, Ann; Inbal, Adi; Harel, Tamar

RNA Analysis Enables Resolution and Reclassification of Reportedly Benign Synonymous Variants

RNA分析能够解析和重新分类据报道为良性的同义变异

Fuchs, Adina; Kobal, Inbar; Popper, Dov; Porat, Shay; Rosenbloom, Joshua I; Slae, Mordechai; Yanovsky Dagan, Shira; Meiner, Vardiella; Molho-Pessach, Vered; Daum, Hagit; Harel, Tamar

Differentiation shifts from a reversible to an irreversible heterochromatin state at the DM1 locus

在 DM1 基因座处,分化从可逆异染色质状态转变为不可逆异染色质状态

Tayma Handal #, Sarah Juster #, Manar Abu Diab #, Shira Yanovsky-Dagan, Fouad Zahdeh, Uria Aviel, Roni Sarel-Gallily, Shir Michael, Ester Bnaya, Shulamit Sebban, Yosef Buganim, Yotam Drier, Vincent Mouly, Stefan Kubicek, Walther J A A van den Broek, Derick G Wansink, Silvina Epsztejn-Litman, Rachel

Talin1 dysfunction is genetically linked to systemic capillary leak syndrome

Talin1 功能障碍与系统性毛细血管渗漏综合征存在遗传相关性

Naama Elefant, Georgia Rouni, Christina Arapatzi, Danit Oz-Levi, Racheli Sion-Sarid, William Js Edwards, Neil J Ball, Shira Yanovsky-Dagan, Alana R Cowell, Vardiella Meiner, Vladimir Vainstein, Sofia Grammenoudi, Doron Lancet, Benjamin T Goult, Tamar Harel, Vassiliki Kostourou

Complex rearrangement in TBC1D4 in an individual with diabetes due to severe insulin resistance syndrome

严重胰岛素抵抗综合征导致糖尿病患者TBC1D4基因发生复杂重排

Cahn, Avivit; Mor-Shaked, Hagar; Rosenberg-Fogler, Hallel; Pollack, Rena; Tolhuis, Bas; Sharma, Gaurav; Schultz, Eric; Yanovsky-Dagan, Shira; Harel, Tamar

USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms

导致X连锁智力障碍的USP27X变异体通过不同的机制破坏蛋白质功能。

Intisar Koch,Maya Slovik,Yuling Zhang,Bingyu Liu,Martin Rennie,Emily Konz,Benjamin Cogne,Muhannad Daana,Laura Davids,Illja J Diets,Nina B Gold,Alexander M Holtz,Bertrand Isidor,Hagar Mor-Shaked,Juanita Neira Fresneda,Karen Y Niederhoffer,Mathilde Nizon,Rolph Pfundt,Meh Simon,Apa Stegmann,Maria J Guillen Sacoto,Marijke Wevers,Tahsin Stefan Barakat,Shira Yanovsky-Dagan,Boyko S Atanassov,Rachel Toth,Chengjiang Gao,Francisco Bustos,Tamar Harel

Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder

巩固双等位基因MAPKAPK5致病变异与一种独特的综合征性神经发育障碍的关联

Maroofian, Reza; Efthymiou, Stephanie; Suri, Mohnish; Rahman, Fatima; Zaki, Maha S; Maqbool, Shazia; Anwa, Najwa; Ruiz-Pérez, Victor L; Yanovsky-Dagan, Shira; Elpeleg, Orly; Sudhakar, Sniya; Mankad, Kshitij; Harel, Tamar; Houlden, Henry

A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay

NUSAP1基因中一种反复出现的新生突变能够逃脱无义介导的mRNA降解,并导致小头畸形、癫痫和发育迟缓。

Mo, Alisa; Paz-Ebstein, Emuna; Yanovsky-Dagan, Shira; Lai, Abbe; Mor-Shaked, Hagar; Gilboa, Tal; Yang, Edward; Shao, Diane D; Walsh, Christopher A; Harel, Tamar

DMPK hypermethylation in sperm cells of myotonic dystrophy type 1 patients

1型强直性肌营养不良患者精子细胞中DMPK高甲基化

Yanovsky-Dagan, Shira; Cohen, Eliora; Megalli, Pauline; Altarescu, Gheona; Schonberger, Oshrat; Eldar-Geva, Talia; Epsztejn-Litman, Silvina; Eiges, Rachel

CRISPR/Cas9-induced gene conversion between ATAD3 paralogs

CRISPR/Cas9诱导的ATAD3旁系同源基因之间的基因转换

Yanovsky-Dagan, Shira; Frumkin, Ayala; Lupski, James R; Harel, Tamar