Emuna相关文献与解析，生知库 | 链接生命科学的每一步

Homozygous Deletion of the Epigenetic Regulator PHF20 in Individuals With Neurodevelopmental Disorder.

神经发育障碍患者表观遗传调控因子 PHF20 的纯合缺失。

Dagan Shira Yanovsky, Xuan Hongwen, Rips Jonathan, Paz-Ebstein Emuna, Baer Talia, Gross Shira, Frumkin Ayala, Shi Xiaobing, Harel Tamar

神经科学

发表日期：2025

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Cellular stiffness sensing through talin 1 in tissue mechanical homeostasis

组织力学稳态中通过 talin 1 感知细胞刚度

期刊:Science Advances

影响因子:11.7

doi:10.1126/sciadv.adi6286

Manasa Chanduri，Abhishek Kumar，Dar Weiss，Nir Emuna，Igor Barsukov，Miusi Shi，Keiichiro Tanaka，Xinzhe Wang，Amit Datye，Jean Kanyo，Florine Collin，TuKiet Lam，Udo D Schwarz，Suxia Bai，Timothy Nottoli，Benjamin T Goult，Jay D Humphrey，Martin A Schwartz 0

Effects of Age, Sex, and Extracellular Matrix Integrity on Aortic Dilatation and Rupture in a Mouse Model of Marfan Syndrome

年龄、性别和细胞外基质完整性对马凡氏综合征小鼠模型主动脉扩张和破裂的影响

期刊:Arteriosclerosis Thrombosis and Vascular Biology

影响因子:7.4

doi:10.1161/ATVBAHA.123.319122

Dar Weiss, Bruno V Rego, Cristina Cavinato, David S Li, Yuki Kawamura, Nir Emuna, Jay D Humphrey

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。

期刊:Clinical Genetics

影响因子:2.3

doi:10.1111/cge.14335

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

Levodopa-responsive dystonia caused by biallelic PRKN exon inversion invisible to exome sequencing

由双等位基因PRKN外显子倒位引起的左旋多巴反应性肌张力障碍，外显子组测序无法检测到。

期刊:Brain Communications

影响因子:4.5

doi:10.1093/braincomms/fcab197

Mor-Shaked, Hagar; Paz-Ebstein, Emuna; Basal, Adily; Ben-Haim, Simona; Grobe, Hanna; Heymann, Sami; Israel, Zvi; Namnah, Montaser; Nitzan, Anat; Rosenbluh, Chaggai; Saada, Ann; Tzur, Tomer; Yanovsky-Dagan, Shira; Zaidel-Bar, Ronen; Harel, Tamar; Arkadir, David

发表日期：2021

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Optimized biomechanical design of a tissue engineered pulsatile Fontan conduit

组织工程化搏动式Fontan导管的优化生物力学设计

Homozygous Deletion of the Epigenetic Regulator PHF20 in Individuals With Neurodevelopmental Disorder.

神经发育障碍患者表观遗传调控因子 PHF20 的纯合缺失。

Cellular stiffness sensing through talin 1 in tissue mechanical homeostasis

组织力学稳态中通过 talin 1 感知细胞刚度

Effects of Age, Sex, and Extracellular Matrix Integrity on Aortic Dilatation and Rupture in a Mouse Model of Marfan Syndrome

年龄、性别和细胞外基质完整性对马凡氏综合征小鼠模型主动脉扩张和破裂的影响

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。

Levodopa-responsive dystonia caused by biallelic PRKN exon inversion invisible to exome sequencing

由双等位基因PRKN外显子倒位引起的左旋多巴反应性肌张力障碍，外显子组测序无法检测到。