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, ...
Genomic Landscape Features of Minimally Invasive Adenocarcinoma and Invasive Lung Adenocarcinoma [0.03%]
微创肺腺癌和侵袭性肺腺癌的基因组特征
Wei Zhang,Hui Xu,Ning Tang et al.
Wei Zhang et al.
Background The widespread implementation of computed tomography has significantly increased the detection of small pulmonary nodules, including atypical adenomatous hyperplasia, minimally invasive adenocarcinoma (MIA), and invasive adenocar...
The Role of CRISPR/Cas9 in Revolutionizing Duchenne's Muscular Dystrophy Treatment: Opportunities and Obstacles [0.03%]
CRISPR/Cas9在革命化杜氏肌营养不良治疗中的作用：机遇与挑战
Ahsan Ali,Md Yakeen Rahman,Danish Sheikh
Ahsan Ali
Duchenne's muscular dystrophy (DMD) is a severe X-linked disorder characterized by progressive muscle degeneration, leading to loss of ambulation, respiratory failure, and premature death. It affects approximately 1 in 3,500 live male birth...
Mechanism of Genome Editing Tools and Their Application on Genetic Inheritance Disorders [0.03%]
基因编辑工具的作用机理及其在遗传性疾病中的应用
Dae Hwan Oh
Dae Hwan Oh
In the fields of medicine and bioscience, gene editing is increasingly recognized as a promising therapeutic approach for treating pathogenic variants in humans and other living organisms. With advancements in technology and knowledge, it i...
Eiman Meer
Eiman Meer
Microglia are immunocompetent cells that are present in the retina and central nervous system, and are involved in the development maintenance and immune functions in these systems. Developing from yolk sac-primitive macrophages, they proli...