Expert Consensus on the Diagnosis and Treatment of NRG1/2 Gene Fusion Solid Tumors [0.03%]
NRG1/2基因融合实体瘤诊断和治疗专家共识
Chunwei Xu,Qian Wang,Dong Wang et al.
Chunwei Xu et al.
The fusion genes NRG1 and NRG2 , members of the epidermal growth factor (EGF) receptor family, have emerged as key drivers in cancer. Upon fusion, NRG1 retains its EGF-like active domain, binds to the ERBB ligand family, and triggers intrac...
Identification of Novel Risk Variants of Inflammatory Factors Related to Myeloproliferative Neoplasm: A Bidirectional Mendelian Randomization Study [0.03%]
与骨髓增生性肿瘤相关的新型炎症因子风险变异的识别：双向孟德尔随机化研究
Yang Li,Ting Sun,Jia Chen et al.
Yang Li et al.
Epidemiological and experimental evidence has linked chronic inflammation to the etiology of myeloproliferative neoplasm (MPN). However, it remains unclear whether genetic associations with specific inflammatory biomarkers are causal or due...
Association of Cytogenetics Aberrations and IGHV Mutations with Outcome in Chronic Lymphocytic Leukemia Patients in a Real-World Clinical Setting [0.03%]
细胞遗传学异常和IGHV突变在真实世界临床环境中对慢性淋巴细胞性白血病患者预后的影响关联研究
Carolina Muñoz-Novas,Isabel González-Gascón-Y-Marín,Iñigo Figueroa et al.
Carolina Muñoz-Novas et al.
Immunoglobulin heavy chain variable ( IGHV ) region mutations, TP53 mutation, fluorescence in situ hybridization (FISH), and cytogenetic analysis are the most important prognostic biomarkers used in chronic lymphocytic leukemia (CLL) patien...
Exploring Health Care Disparities in Genetic Testing and Research for Hereditary Cardiomyopathy: Current State and Future Perspectives [0.03%]
遗传测试和研究在探索遗传性心肌病的医疗差异中的应用：现状与未来展望
Helen Huang,Jay Verma,Valerie Mok et al.
Helen Huang et al.
Background Hereditary cardiomyopathies are commonly occurring myocardial conditions affecting heart structure and function with a genetic or familial association, but the etiology is often unknown. Cardiomyopathies are linked to significant...
Rakibul Hasan
Rakibul Hasan
The article explores the multifaceted role of the neuropeptide oxytocin in human behavior and its connection to the oxytocin receptor ( OXTR ) gene. Oxytocin, produced in specific brain nuclei, is implicated in emotional, social, and matern...
Darja Kanduc
Darja Kanduc
This communication concerns a crucial query in immunology, that is, the dimension of an epitope. The issue has essential implications in vaccine formulations. ...
Identification of Two Variants c.2697A > C and c.3305A > C in USP7 by Analysis of Whole-Exome Sequencing in Chinese Patients with Hao-Fountain Syndrome [0.03%]
中国Hao-Fountain综合症患者全外显子测序分析中USP7的两种变异c.2697A>C和c.3305A>C的鉴定
Mei Sun,Qing Li,Ying Zhang et al.
Mei Sun et al.
Background Variants of ubiquitin-specific protease 7 ( USP7 ) gene in humans are associated with a neurodevelopmental disorder-Hao-Fountain syndrome, its core symptoms including developmental delay, intellectual disability, and speech delay...
Novel Variants of CEP152 in a Case of Compound-Heterozygous Inheritance of Epilepsy [0.03%]
复合杂合子遗传癫痫病例中的CEP152新型变异体
Weiran Li,Xiaowei Lu,Jianbo Shu et al.
Weiran Li et al.
Introduction CEP152 encodes protein Cep152, which associates with centrosome function. The lack of Cep152 can cause centrosome duplication to fail. CEP152 mutates, causing several diseases such as Seckel syndrome-5 and primary microencephal...
A Pair of Compound Heterozygous IARS2 Variants Manifesting West Syndrome and Electrolyte Disorders in a Chinese Patient [0.03%]
中国患者西综合征和电解质紊乱表现为IARS2基因一对复合杂合变异
Feiyu Zhou,Gui Yi,Xiangyu Liu et al.
Feiyu Zhou et al.
Background Aminoacyl-tRNA synthetases (ARSs) are evolutionarily conserved enzymes that ensure the accuracy of the translation process. Isoleucyl-tRNA synthetase 2 ( IARS2 ) gene is a type of ARS that encodes mitochondrial isoleucine-tRNA sy...
Orchestration of Genetic Alterations in PSEN1 and PSEN2 Genes in Development of Alzheimer's Disease through Computational Analysis [0.03%]
计算分析PSEN1和PSEN2基因遗传异常在阿尔茨海默病发展中的相互作用
Asif Mir,Zainab Kamran,Wajid Iqbal
Asif Mir
Dementia is a syndrome that can cause a number of progressive illnesses that affect memory, thinking, and ability to perform everyday tasks. Alzheimer's disease (AD) is the most common cause of dementia and represents a major public health ...