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

A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities

主要自噬基因 WIPI2 的突变与整体发育异常有关

Musharraf Jelani, Hannah C Dooley, Andrea Gubas, Hussein Sheikh Ali Mohamoud, Muhammad Tariq Masood Khan, Zahir Ali, Changsoo Kang, Fazal Rahim, Amin Jan, Nirmal Vadgama, Muhammad Ismail Khan, Jumana Yousuf Al-Aama, Asifullah Khan, Sharon A Tooze, Jamal Nasir

Tuning the Thromboinflammatory Response to Venous Flow Interruption by the Ectonucleotidase CD39

通过外核苷酸酶 CD39 调节静脉血流中断引起的血栓炎症反应

Anuli C Anyanwu, Yogendra Kanthi, Keigo Fukase, Hui Liao, Tekashi Mimura, Karl C Desch, Martin Gruca, Saabir Kaskar, Hussein Sheikh-Aden, Liguo Chi, Raymond Zhao, Vinita Yadav, Thomas W Wakefield, Matthew C Hyman, David J Pinsky

A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features

TRAPPC6A 的错义突变导致患有神经发育综合征和畸形特征的患者体内蛋白质积聚

Hussein Sheikh Mohamoud, Saleem Ahmed, Musharraf Jelani, Nuha Alrayes, Kay Childs, Nirmal Vadgama, Mona Mohammad Almramhi, Jumana Yousuf Al-Aama, Steve Goodbourn, Jamal Nasir

Detection of genetic alterations in gastric cancer patients from Saudi Arabia using comparative genomic hybridization (CGH)

利用比较基因组杂交(CGH)技术检测沙特阿拉伯胃癌患者的基因改变

Bibi, Fehmida; Ali, Isse; Naseer, Muhammad Imran; Ali Mohamoud, Hussein Sheikh; Yasir, Muhammad; Alvi, Sana Akhtar; Jiman-Fatani, Asif Ahmed; Sawan, Ali; Azhar, Esam Ibraheem

Induced pluripotent stem cell modelling of HLHS underlines the contribution of dysfunctional NOTCH signalling to impaired cardiogenesis

HLHS 诱导性多能干细胞建模强调了 NOTCH 信号功能障碍对心脏发生受损的影响

Chunbo Yang, Yaobo Xu, Min Yu, David Lee, Sameer Alharti, Nicola Hellen, Noor Ahmad Shaik, Babajan Banaganapalli, Hussein Sheikh Ali Mohamoud, Ramu Elango, Stefan Przyborski, Gennadiy Tenin, Simon Williams, John O'Sullivan, Osman O Al-Radi, Jameel Atta, Sian E Harding, Bernard Keavney, Majlinda Lako

A Novel Missense Mutation in the CLPP Gene Causing Perrault Syndrome Type 3 in a Turkish Family

土耳其一个家族中发现CLPP基因的新型错义突变导致佩罗综合征3型

Dursun, Fatma; Mohamoud, Hussein Sheikh Ali; Karim, Noreen; Naeem, Muhammad; Jelani, Musharraf; Kırmızıbekmez, Heves

Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon-Lefevre syndrome in a Saudi family

全外显子组测序揭示了沙特阿拉伯一个家族中导致帕皮隆-勒费弗尔综合征的组织蛋白酶C基因复发性突变

Alkhiary, Yaser Mohammad; Jelani, Musharraf; Almramhi, Mona Mohammad; Mohamoud, Hussein Sheikh Ali; Al-Rehaili, Rayan; Al-Zahrani, Hams Saeed; Serafi, Rehab; Yang, Huanming; Al-Aama, Jumana Yousuf

Truncating mutation in intracellular phospholipase A₁ gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54)

遗传性痉挛性截瘫伴智力障碍(SPG54)中细胞内磷脂酶A₁基因(DDHD2)的截断突变

Alrayes, Nuha; Mohamoud, Hussein Sheikh Ali; Jelani, Musharraf; Ahmad, Saleem; Vadgama, Nirmal; Bakur, Khadijah; Simpson, Michael; Al-Aama, Jumana Yousuf; Nasir, Jamal

From genes to health - challenges and opportunities

从基因到健康——挑战与机遇

Manwar Hussain, Muhammad Ramzan; Khan, Asifullah; Ali Mohamoud, Hussein Sheikh

First comprehensive in silico analysis of the functional and structural consequences of SNPs in human GalNAc-T1 gene

首次对人类 GalNAc-T1 基因中 SNP 的功能和结构后果进行全面的计算机模拟分析

Mohamoud, Hussein Sheikh Ali; Hussain, Muhammad Ramzan Manwar; El-Harouni, Ashraf A; Shaik, Noor Ahmad; Qasmi, Zaheer Ulhaq; Merican, Amir Feisal; Baig, Mukhtiar; Anwar, Yasir; Asfour, Hani; Bondagji, Nabeel; Al-Aama, Jumana Yousuf