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

Addendum to Nociception and pain in humans lacking a functional TRPV1 channel

关于缺乏功能性 TRPV1 通道的人类的伤害感受和疼痛的附录

Katz, Ben; Zaguri, Rachel; Edvardson, Simon; Maayan, Channa; Elpeleg, Orly; Lev, Shaya; Davidson, Elyad; Peters, Maximilian; Kfir-Erenfeld, Shlomit; Berger, Esther; Ghazalin, Shifa; Binshtok, Alexander M; Minke, Baruch

NDUFS4, a mitochondrial complex I subunit, is essential for T-cell metabolic fitness and immune function.

NDUFS4 是线粒体复合物 I 的一个亚基,对 T 细胞的代谢适应性和免疫功能至关重要。

Shamriz Oded, Bar-On Zahala, Yosef Omri, Cohen-Daniel Leonor, Sheer Ayelet, Reuven Or, Salaymeh Wajeeh, Saragovi Amijai, Somech Raz, Lev Atar, Mor-Shaked Hagar, Tal Yuval, Fattal-Valevski Aviva, Edvardson Simon, Berger Michael

Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy

DNAJC6帕金森病中的神经发育和突触缺陷,可通过基因治疗进行治疗。

Abela, Lucia; Gianfrancesco, Lorita; Tagliatti, Erica; Rossignoli, Giada; Barwick, Katy; Zourray, Clara; Reid, Kimberley M; Budinger, Dimitri; Ng, Joanne; Counsell, John; Simpson, Arlo; Pearson, Toni S; Edvardson, Simon; Elpeleg, Orly; Brodsky, Frances M; Lignani, Gabriele; Barral, Serena; Kurian, Manju A

A deleterious variant of INTS1 leads to disrupted sleep-wake cycles

INTS1的有害变异会导致睡眠-觉醒周期紊乱

Confino, Shir; Wexler, Yair; Medvetzky, Adar; Elazary, Yotam; Ben-Moshe, Zohar; Reiter, Joel; Dor, Talya; Edvardson, Simon; Prag, Gali; Harel, Tamar; Gothilf, Yoav

Nociception and pain in humans lacking a functional TRPV1 channel

缺乏功能性 TRPV1 通道的人类的伤害感受和疼痛

Ben Katz, Rachel Zaguri, Simon Edvardson, Channa Maayan, Orly Elpeleg, Shaya Lev, Elyad Davidson, Maximilian Peters, Shlomit Kfir-Erenfeld, Esther Berger, Shifa Ghazalin, Alexander M Binshtok, Baruch Minke

WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy

WiTNNess:一项关于婴儿期发病的TNNT1肌病的国际自然史研究

Strauss, Kevin A; Carson, Vincent J; Bolettieri, Emilienne; Everett, Mariah; Bollinger, Ashton; Bowser, Lauren E; Beiler, Keturah; Young, Millie; Edvardson, Simon; Fraenkel, Nitay; D'Amico, Adele; Bertini, Enrico; Lingappa, Lokesh; Chowdhury, Devyani; Lowes, Linda P; Iammarino, Megan; Alfano, Lindsay N; Brigatti, Karlla W

Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation

嘌呤生物合成酶IMPDH2的神经发育障碍突变会破坏其变构调节。

O'Neill, Audrey G; Burrell, Anika L; Zech, Michael; Elpeleg, Orly; Harel, Tamar; Edvardson, Simon; Mor-Shaked, Hagar; Rippert, Alyssa L; Nomakuchi, Tomoki; Izumi, Kosuke; Kollman, Justin M

Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure

IMPDH2基因的点突变会导致早发性神经发育障碍,这些突变会破坏酶的调控和丝状结构。

O'Neill, Audrey G; Burrell, Anika L; Zech, Michael; Elpeleg, Orly; Harel, Tamar; Edvardson, Simon; Shaked, Hagar Mor; Rippert, Alyssa L; Nomakuchi, Tomoki; Izumi, Kosuke; Kollman, Justin M

A Zebrafish Model for a Rare Genetic Disease Reveals a Conserved Role for FBXL3 in the Circadian Clock System

斑马鱼罕见遗传病模型揭示FBXL3在生物钟系统中的保守作用

Confino, Shir; Dor, Talya; Tovin, Adi; Wexler, Yair; Ben-Moshe Livne, Zohar; Kolker, Michaela; Pisanty, Odelia; Park, Sohyun Kathy; Geyer, Nathalie; Reiter, Joel; Edvardson, Shimon; Mor-Shaked, Hagar; Elpeleg, Orly; Vallone, Daniela; Appelbaum, Lior; Foulkes, Nicholas S; Gothilf, Yoav

Macrophage migration inhibitory factor in Nodding syndrome

点头综合征中的巨噬细胞移动抑制因子

Gil Benedek, Mahmoud Abed El Latif, Keren Miller, Mila Rivkin, Ally Ahmed Ramadhan Lasu, Lul P Riek, Richard Lako, Shimon Edvardson, Sagit Arbel-Alon, Eithan Galun, Mia Levite