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

Clinical Discovery and Molecular Analysis of Two Novel MSH2 Gene Mutations (p.Ala771Gly and p.Val797Gly) in Saudi Colorectal Cancer Patients: Potential Implications for Tumorigenesis

沙特阿拉伯结直肠癌患者中两种新型MSH2基因突变(p.Ala771Gly和p.Val797Gly)的临床发现和分子分析:对肿瘤发生的潜在影响

Rasool, Mahmood; Haque, Absarul; Alharthi, Mohammed; Ali, Tainus; Karim, Sajjad; Mira, Loubna Siraj; Al-Abbasi, Fahd; Aljiffry, Murad; Ghunaim, Mohammed; Sibiany, Abdulrahman; Pushparaj, Peter Natesan

The mutational spectrum of NRAS gene discovers a novel frameshift mutation (E49R) in Saudi colorectal cancer patients

NRAS基因突变谱在沙特阿拉伯结直肠癌患者中发现了一种新的移码突变(E49R)。

Rasool, Mahmood; Haque, Absarul; Alharthi, Mohammed; Sibiany, Abdulrahman; Alamri, Mohammed Saad; Alqarni, Samer Mohammed Hassan; Rather, Irfan A; Chaudhary, Adeel G; Karim, Sajjad; Pushparaj, Peter Natesan

Characterization of Desertihabitans sp. FB5, a halophyte associated Actinomycetes producing phytohormones

对Desertihabitans sp. FB5(一种与盐生植物相关的、产生植物激素的放线菌)进行表征

Bibi, Fehmida; Naseer, Muhammad Imran; Pushparaj, Peter Natesan; Haque, Absarul; Azhar, Esam Ibraheem

Discovery of a novel mutation F184S (c.551T>C) in GATA4 gene causing congenital heart disease in a consanguineous Saudi family

在沙特阿拉伯一个近亲结婚的家庭中,发现了一种新的GATA4基因突变F184S (c.551T>C),该突变导致先天性心脏病。

Rasool, Mahmood; Pushparaj, Peter Natesan; Haque, Absarul; Shorbaji, Ayat Mohammed; Mira, Loubna Siraj; Bakhashab, Sherin; Alama, Mohamed Nabil; Farooq, Muhammad; Karim, Sajjad; Larsen, Lars Allan

Whole exome sequencing of a novel homozygous missense variant in PALB2 gene leading to Fanconi anaemia complementation group

对PALB2基因中一种导致范可尼贫血互补群的新型纯合错义变异进行全外显子组测序

Abdulkareem, Angham Abdulrhman; Shirah, Bader H; Bagabir, Hala Abubaker; Haque, Absarul; Naseer, Muhammad Imran

A missense variant in the PACS2 gene cause Epileptic Encephalopathy and seizures in Saudi family

沙特阿拉伯一个家族中,PACS2基因的错义变异导致癫痫性脑病和癫痫发作。

Haque, Absarul; Naseer, Muhammad Imran

KDM3A knockdown regulates COMP, LOX, COL8A1 and ACOT1 genes in myocardial fibrosis

KDM3A 敲低调节心肌纤维化中的 COMP、LOX、COL8A1 和 ACOT1 基因

Alzhrani, Abrar A; Rasool, Mahmood; Karim, Sajjad; Alhejin, Ahmed; Haque, Absarul; Morsi, Mohamed; Alama, Mohamed Nabil; Pushparaj, Peter Natesan

Effect of novel IL-8 gene mutation on its protein structure and stability among ovarian cancer patients in Saudi Arabia.

沙特阿拉伯卵巢癌患者中新型IL-8基因突变对其蛋白质结构和稳定性的影响

Haque Absarul, Baig Ghazanfar Ali, Alshawli Abdulelah Saleh, Wali Sait Khalid Hussain, Mohammed Ali Hani S H, Hussain Sait Hesham Khalid, Bibi Fehmida, Pushparaj Peter Natesan, Rasool Mahmood, Naseer Muhammad Imran

A Novel Homozygous Nonsense Variant in the DYM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family

在大近亲家族中,DYM基因中一种新的纯合无义变异是Dyggve-Melchior-Clausen综合征的致病原因。

Bakar, Abu; Shams, Sulaiman; Bibi, Nousheen; Ullah, Asmat; Ahmad, Wasim; Jelani, Musharraf; Muthaffar, Osama Yousef; Abdulkareem, Angham Abdulrhman; Abujamel, Turki S; Haque, Absarul; Naseer, Muhammad Imran; Khan, Bushra

A Systems Biology and LASSO-Based Approach to Decipher the Transcriptome-Interactome Signature for Predicting Non-Small Cell Lung Cancer

基于系统生物学和LASSO的方法解析转录组-相互作用组特征以预测非小细胞肺癌

Ahmed, Firoz; Khan, Abdul Arif; Ansari, Hifzur Rahman; Haque, Absarul