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

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

BLOC1S1 变异导致溶酶体和自噬缺陷,从而引起髓鞘形成不足的脑白质营养不良伴癫痫性脑病。

De Pace Raffaella, Dominguez Gonzalez Carlos A, Williamson Chad D, Helman Guy, Sanderson Leslie E, Disanza Brianna, Hsiao-Sánchez Nicole, Pizzino Amy, Muirhead Kayla, Bonkowsky Joshua L, Taft Ryan J, Sannaa Nouriya A, Dias Patricia, Quintas Ana Sofia, Mutlu Mehmet Burak, Bas Hasan, Oztürk Hasan, Mojarrad Majid, Alerasool Masoome, Sheikhani Shahriar, Jabbar Hayder Kadhim, Issa Awatif Hameed, Houlden Henry, Zonic Emir, Barakat Tahsin Stefan, Tripolski Kornelia, Romito Antonio, Teferedegn Eden, Vossough Arastoo, Whitehead Matthew T, Bhoj Elizabeth, Ahrens-Nicklas Rebecca C, Simons Cas, Wolvetang Ernst, van Ham Tjakko J, Bertoli-Avella Aida M, Maroofian Reza, Bonifacino Juan S, Vanderver Adeline

Expansion of Molecular and Clinical Aspects of EPS8L2 (DFNB106)-Associated Hearing Loss Emphasizes a Potential Therapeutic Window

EPS8L2 (DFNB106) 相关性听力损失的分子和临床方面的研究拓展,凸显了潜在的治疗窗口

Owrang, Daniel; Rad, Aboulfazl; Alerasool, Masoome; Kolb, Susanne M; Lin, Sheng-Jia; Doll, Julia; Alidadiani, Neda; Ghaderi, Shahrooz; Hofrichter, Michaela A H; Maroofian, Reza; Varshney, Gaurav K; Mojarrad, Majid; Bartsch, Oliver; Haaf, Thomas; Vona, Barbara

Comprehensive Clinical, Diagnostic, and In Silico Assessment of a Novel 1p36.33p36.32 Copy Number Variant

对一种新型 1p36.33p36.32 拷贝数变异进行全面的临床、诊断和计算机模拟评估

Eslahi, Atieh; Kahaei, Mir Salar; Shirvan, Bita Barazandeh; Alerasool, Masoome; Tabarestani, Sepideh; Rezaie, Razie; Hashemi, Narges; Akhondian, Javad; Arabi, Mobina; Ebrahimzadeh, Farnoosh; Toosi, Mehran Beiraghi; Mojarrad, Majid

ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration

ADAT3 变体破坏 ADAT tRNA 脱氨酶复合物的活性,并损害神经元迁移。

Del-Pozo-Rodriguez, Jordi; Tilly, Peggy; Lecat, Romain; Vaca, Hugo Rolando; Mosser, Laureline; Brivio, Elena; Balla, Till; Gomes, Marina Vitoria; Ramos-Morales, Elizabeth; Schwaller, Noémie; Salinas-Giegé, Thalia; VanNoy, Grace; England, Eleina M; Kern Lovgren, Alysia; O'Leary, Melanie; Chopra, Maya; Meave Ojeda, Naomi; Toosi, Mehran Beiraghi; Eslahi, Atieh; Alerasool, Masoome; Mojarrad, Majid; Pais, Lynn S; Yeh, Rebecca C; Gable, Dustin L; Hashem, Mais O; Abdulwahab, Firdous; Rakiz Alqurashi, Muath; Sbeih, Loai Z; Adas Blanco, Omar Abu; Khater, Renad Abu; Oprea, Gabriela; Rad, Aboulfazl; Alzaidan, Hamad; Aldhalaan, Hesham; Tous, Ehab; Alsagheir, Afaf; Alowain, Mohammed; Tamim, Abdullah; Alfayez, Khowlah; Alhashem, Amal; Alnuzha, Aisha; Kamel, Mona; Al-Awam, Bashayer S; Elnaggar, Walaa; Almenabawy, Nihal; O'Donnell-Luria, Anne; Neil, Jennifer E; Gleeson, Joseph G; Walsh, Christopher A; Alkuraya, Fowzan S; AlAbdi, Lama; Elkhateeb, Nour; Selim, Laila; Srivastava, Siddharth; Nedialkova, Danny D; Drouard, Laurence; Romier, Christophe; Bayam, Efil; Godin, Juliette D

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

BLOC1S1 变异导致溶酶体和自噬缺陷,从而引起髓鞘形成不足的脑白质营养不良伴癫痫性脑病

De Pace Raffaella, Gonzalez Carlos Dominguez, Williamson Chad D, Helman Guy, Sanderson Leslie E, Disanza Brianna, Hsiao-Sánchez Nicole, Pizzino Amy, Muirhead Kayla, Bonkowsky Joshua L, Taft Ryan J, Sannaa Nouriya A, Dias Patricia, Quintas Ana Sofia, Mutlu Mehmet Burak, Bas Hasan, Oztürk Hasan, Mojarrad Majid, Alerasool Masoome, Sheikhani Shahriar, Jabbar Hayder Kadhim, Issa Awatif Hameed, Houlden Henry, Zonic Emir, Barakat Tahsin Stefan, Tripolski Kornelia, Romito Antonio, Teferedegn Eden, Vossough Arastoo, Whitehead Matthew T, Bhoj Elizabeth, Ahrens-Nicklas Rebecca C, Simons Cas, Wolvetang Ernst, van Ham Tjakko J, Bertoli-Avella Aida M, Maroofian Reza, Bonifacino Juan S, Vanderver Adeline

A universal deep-learning model for zinc finger design enables transcription factor reprogramming

锌指设计的通用深度学习模型可实现转录因子重编程

David M Ichikawa #, Osama Abdin #, Nader Alerasool, Manjunatha Kogenaru, April L Mueller, Han Wen, David O Giganti, Gregory W Goldberg, Samantha Adams, Jeffrey M Spencer, Rozita Razavi, Satra Nim, Hong Zheng, Courtney Gionco, Finnegan T Clark, Alexey Strokach, Timothy R Hughes, Timothee Lionnet, Mik

Identification and functional characterization of transcriptional activators in human cells

人类细胞中转录激活因子的鉴定和功能表征

Nader Alerasool, He Leng, Zhen-Yuan Lin, Anne-Claude Gingras, Mikko Taipale

Recurrent chromosomal translocations in sarcomas create a megacomplex that mislocalizes NuA4/TIP60 to Polycomb target loci

肉瘤中反复发生的染色体易位形成巨型复合物,导致 NuA4/TIP60 错误定位到 Polycomb 靶位点。

Sudarshan, Deepthi; Avvakumov, Nikita; Lalonde, Marie-Eve; Alerasool, Nader; Joly-Beauparlant, Charles; Jacquet, Karine; Mameri, Amel; Lambert, Jean-Philippe; Rousseau, Justine; Lachance, Catherine; Paquet, Eric; Herrmann, Lara; Thonta Setty, Samarth; Loehr, Jeremy; Bernardini, Marcus Q; Rouzbahman, Marjan; Gingras, Anne-Claude; Coulombe, Benoit; Droit, Arnaud; Taipale, Mikko; Doyon, Yannick; Côté, Jacques

MRG Proteins Are Shared by Multiple Protein Complexes With Distinct Functions

MRG 蛋白由具有不同功能的多种蛋白质复合物共享

Maëva Devoucoux, Céline Roques, Catherine Lachance, Anahita Lashgari, Charles Joly-Beauparlant, Karine Jacquet, Nader Alerasool, Alexandre Prudente, Mikko Taipale, Arnaud Droit, Jean-Philippe Lambert, Samer M I Hussein, Jacques Côté

Clinical factors associated with outcome in solid tumor patients treated with immune-checkpoint inhibitors: a single institution retrospective analysis

免疫检查点抑制剂治疗实体瘤患者预后相关临床因素:单中心回顾性分析

Qin, Qian; Jun, Tomi; Wang, Bo; Patel, Vaibhav G; Mellgard, George; Zhong, Xiaobo; Gogerly-Moragoda, Mahalya; Parikh, Anish B; Leiter, Amanda; Gallagher, Emily J; Alerasool, Parissa; Garcia, Philip; Joshi, Himanshu; Mbbs; Galsky, Matthew; Oh, William K; Tsao, Che-Kai