Meyrem Osum,Rasime Kalkan
Meyrem Osum
Identifying the circadian clock first provided the genetic basis for behaviour, and our understanding of circadian rhythms has since expanded to provide molecular insight into disease and physiology. The synchronization of central and perip...
The pathogenesis of B-cell non-hodgkin lymphoma associated with HBV (hepatitis B virus) infection is regulated by c-Myc/PD-L1 signaling pathway [0.03%]
乙型肝炎病毒感染相关B细胞淋巴瘤的发病机制由c-Myc/PD-L1信号通路调控
Yu Zhao,Jian Yang,Sai Xu et al.
Yu Zhao et al.
Background: HBV is closely associated with the incidence of B-NHL (B-cell non-hodgkin lymphoma). This project intends to establish HBV infection-induced B-NHL cells and animal models to clarify the mutual mechanism of HBV...
Abdullahi Tunde Aborode,Ohilebo Abdulateef Abass,Shaibu Nasiru et al.
Abdullahi Tunde Aborode et al.
RNA-binding proteins (RBPs) are integral components of cellular machinery, playing crucial roles in the regulation of gene expression and maintaining genetic stability. Their interactions with RNA molecules govern critical processes such as...
Genetic impact of copy number variations on congenital heart defects: Current insights and future directions [0.03%]
拷贝数变异对先天性心脏病的遗传影响：现状与未来展望
Nandini Krishnamurthy,Devi Krishna,Sanjana et al.
Nandini Krishnamurthy et al.
Congenital heart defects (CHDs) are the most prevalent congenital abnormalities, and they are commonly associated with genetic alterations, namely copy number variants. CNVs, which are duplications or deletions of DNA sequences, can disrupt...
Phenotypic variability in two siblings with Poretti-Boltshauser syndrome [0.03%]
两例Poretti-Boltshauser综合征同胞兄妹的临床表型差异分析
Karolyne Michele Moura Raftopoulos,Fernanda Sousa Nascimento Chiang,Lorena de Melo Gama et al.
Karolyne Michele Moura Raftopoulos et al.
Introduction: Poretti-Boltshauser Syndrome (PBS) is a rare neuro-ophthalmological disorder with autosomal recessive inheritance. It is characterized by non-progressive cerebellar ataxia, delay in neuropsychomotor developm...
Limb-Girdle Muscular Dystrophies (LGMD): Clinical features, diagnosis and genetic variability through next generation sequencing [0.03%]
limb-girdle型肌营养不良(lgmd)的临床特点、诊断及运用下一代测序技术检测遗传变异
Priyanshu Mathur,Ashmeet Kaur,Urvashi Vijay et al.
Priyanshu Mathur et al.
Background: Limb-Girdle Muscular Dystrophy (LGMD) is a rare heterogeneous group of neuromuscular disorders distinguished by progressive weakness of limb-girdle muscles. Diagnosis of LGMD is a challenging task and requires...
The genetic susceptibility of SOD2 gene polymorphism in sudden sensorineural hearing loss (SSNHL) [0.03%]
线粒体SOD2基因多态性与突发性感音神经性聋关系的研究
Jiahong Deng,Guifang Ma,Xianbao Cao et al.
Jiahong Deng et al.
Background: The genic etiology of sudden sensorineural hearing loss (SSNHL) is associated with gene polymorphism which is related to oxygen metabolism of cochlear hair cells. ...
Case Report: Alpha6 Integrin Disorder Presenting in Childhood with Nail Dysplasia and Onycholysis But No History of Fragile or Bullous Skin Changes [0.03%]
病例报告：α6整合素障碍在儿童期表现为甲发育不良和甲剥离但无皮肤脆弱或水疱病史
Alayna N Zalesny,Sarah Gunter,Charles A Williams
Alayna N Zalesny
We report a 7-year-old girl born with pyloric atresia but without congenital epidermolysis bullosa or skin fragility. Nail dysplasia developed at age 8 months and throughout childhood she suffered from onycholysis and mild nail hypertrophy....
The Role of the Plasminogen Activator Inhibitor 1 ( PAI1 ) in Ovarian Cancer: Mechanisms and Therapeutic Implications [0.03%]
纤溶酶原激活物抑制剂1(PAI1)在卵巢癌中的作用：机制及治疗意义
Sneha Grace Mathews,R B Devi Krishna,Lavanya M et al.
Sneha Grace Mathews et al.
Ovarian cancer (OC) is one among most significantly fatal gynecological cancers, with late-stage detection and an inadequate prognosis. Plasminogen activator inhibitor-1 ( PAI1 ) gene anticipates negative outcomes in many different kinds of...
Expert Consensus on the Diagnosis and Treatment of FGFR Gene-Altered Solid Tumors [0.03%]
FGFR基因变异的实体瘤诊断治疗专家共识
Chunwei Xu,Bin Lian,Juanjuan Ou et al.
Chunwei Xu et al.
The fibroblast growth factor receptor (FGFR) is a crucial receptor tyrosine kinase involved in essential biological processes, including growth, development, and tissue repair. However, FGFR gene mutations, including amplification, fusion, ...