Systematic Multiomics Analysis and In Vitro Experiments Suggest ITGA5 as a Promising Therapeutic Target for CCRCC

Medicine, Nephrology, Oncology, Life Sciences, Cell Biology, Biochemistry, Genetics,
ITGA5   multiomics analysis   clear cell renal cell carcinoma   tumor microenvironment   therapeutic target  

Systematic Multi-Omics Analysis and In Vitro Experiments Suggest ITGA5 as a Potential Target for Clear Cell Renal Cell Carcinoma (ccRCC) Treatment Research Background and Motivation Clear cell renal cell carcinoma (ccRCC) is the most common subtype of renal cell carcinoma (RCC), accounting for about 75% of all kidney cancer cases. According to the ...

Identification and Validation of a Prognostic Model Based on Three TLS-Related Genes in Oral Squamous Cell Carcinoma

Medicine, Oral Sciences, Medical Imaging, Oncology, Life Sciences, Biochemistry, Immunology, Genetics,
oral squamous cell carcinoma   tertiary lymphoid structure   prognostic model   immune infiltration   convolutional neural network  

Research Report: Validation and Analysis of a Prognostic Model for Oral Squamous Cell Carcinoma Constructed with TLS-Related Genes Background and Research Motivation Oral Squamous Cell Carcinoma (OSCC) is the most common subtype of Head and Neck Squamous Cell Carcinoma (HNSCC), exhibiting a high tendency for lymph node metastasis, especially to the...

The Clinical and Genetic Spectrum of Inherited Glycosylphosphatidylinositol Deficiency Disorders

Medicine, Pediatrics, Basic Medical Sciences, Neurology, Medical Imaging, Life Sciences, Cell Biology, Immunology, Genetics,
Inherited   Glycosylphosphatidylinositol Deficiency   Multisystem Disorders   Neurogenetic Disease   Molecular Spectrum   Natural History Data  

Clinical and Genetic Spectrum Study of Inherited Glycosylphosphatidylinositol Deficiency Disorders (IGDs) Background Introduction The glycosylphosphatidylinositol (GPI) anchoring pathway is crucial for post-translational modification of many important proteins in eukaryotes, which are fundamental for cell signaling and early human neurogenesis and ...

Expanded Clinical Phenotype Spectrum Correlates with Variant Function in SCN2A-Related Disorders

Medicine, Basic Medical Sciences, Medical Laboratory Science, Neurology, Life Sciences, Cell Biology, Genetics,
SCN2A   epilepsy   autism   developmental epileptic encephalopathy   ion channel   genetic variant  

Dysfunctional spectrum associated with clinical phenotype expansion in SCN2A-related disorders This paper was written by scholars including Anne T. Berg, Christopher H. Thompson, Leah Schust Myers, Erica Anderson, Lindsey Evans, Ariela J. E. Kaiser, Katherine Paltell, Amanda N. Nili, Jean-Marc L. Dekeyser, Tatiana V. Abramova, Gerry Nesbitt, Shawn ...

Parkinson’s Disease Variant Detection and Disclosure: PD Generation, A North American Study

Medicine, Medical Laboratory Science, Neurology, Life Sciences, Genetics,
Parkinson's disease   genetic testing   genetic counselling   LRRK2   GBA1   clinical trials  

Parkinson’s Disease Variant Detection and Disclosure: Comprehensive Report Background Parkinson’s Disease (PD) is a progressive neurodegenerative disorder primarily characterized by motor dysfunction and non-motor symptoms. Research has shown that at least seven genes (LRRK2, GBA1, PRKN, SNCA, PINK1, PARK7, VPS35) are directly related to the occurr...

Towards Cascading Genetic Risk in Alzheimer’s Disease

Medicine, Geriatrics, Neurology, Neurosurgery, Life Sciences, Biochemistry, Genetics,
Alzheimer’s disease   APOE   polygenic risk   longitudinal progression   biomarker  

Cascading Pattern in Genetic Risk Research for Alzheimer’s Disease Background and Research Motivation Alzheimer’s disease (AD) is a slowly progressing neurodegenerative disorder characterized by the accumulation of two pathological features: amyloid plaques and phosphorylated tau neurofibrillary tangles. These pathological features typically exist ...