A Cysteinyl-tRNA Synthetase Mutation Causes Novel Autosomal-Dominant Inheritance of a Parkinsonism/Spinocerebellar-Ataxia Complex

A Cysteinyl-tRNA Synthetase Mutation Causes Novel Autosomal-Dominant Inheritance of a Parkinsonism/Spinocerebellar-Ataxia Complex

Medicine, Basic Medical Sciences, Neurology, Life Sciences, Genetics,
Parkinsonism   Spinocerebellar Ataxia   Cysteinyl-tRNA Synthetase   Mutation   Genetics  

A Novel Autosomal Dominant Parkinsonism/Cerebellar Ataxia Syndrome Caused by Cysteinyl-tRNA Synthetase Mutation Background Recently, a Chinese research team discovered a new pathogenic gene for a rare neurodegenerative disease that presents as a combination of Parkinson’s disease and cerebellar ataxia symptoms, which does not fit the description of...

Genome-Wide Loss of Heterozygosity Predicts Aggressive, Treatment-Refractory Behavior in Pituitary Neuroendocrine Tumors

Medicine, Endocrinology, Neurology, Oncology, Life Sciences, Cell Biology, Biochemistry, Genetics,
aggressive pituitary tumor   treatment-refractory pituitary tumor   pituitary carcinoma   pituitary neuroendocrine tumor   loss of heterozygosity   biomarker  

Prediction of Invasiveness and Treatment Resistance Behavior of Pituitary Neuroendocrine Tumors Based on Genome-Wide Loss of Heterozygosity Background: Pituitary neuroendocrine tumors (PitNETs) are mostly benign, but a small portion exhibit invasive and treatment-resistant behaviors, continuing to grow or metastasize even after surgery, conventiona...

Alteration of Gene Expression and Protein Solubility of the PI5-Phosphatase SHIP2 are Correlated with Alzheimer’s Disease Pathology Progression

Medicine, Basic Medical Sciences, Neurology, Life Sciences, Cell Biology, Biochemistry, Immunology, Genetics,
Alzheimer’s Disease   SHIP2   INPPL1   EGFR   Tau   Amyloid β   GWAS   CSF pTau  

Changes in Gene Expression and Protein Insolubility in Alzheimer’s Disease Progression Background Introduction As the most common type of dementia, Alzheimer’s Disease (AD) is well-known for its two main neuropathological features: amyloid plaques and neurofibrillary tangles (NFTs). Amyloid plaques consist of β-amyloid (Aβ) peptide segments generat...

Abundant Transcriptomic Alterations in the Human Cerebellum of Patients with a C9orf72 Repeat Expansion

Medicine, Medical Laboratory Science, Neurology, Life Sciences, Cell Biology, Biochemistry, Genetics,
C9orf72   Amyotrophic Lateral Sclerosis   Frontotemporal Lobar Degeneration   Transcriptomics   Cryptic Exons  

Research Background In the field of neuroscience, amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are two highly heterogeneous neurodegenerative diseases. Studies indicate that non-coding hexanucleotide repeat expansions in the c9orf72 gene are the most common genetic causes of these diseases. However, the specific ...

Characterization of NEB Pathogenic Variants in Patients Reveals Novel Nemaline Myopathy Disease Mechanisms and Omecamtiv Mecarbil Force Effects

Medicine, Medical Laboratory Science, Neurology, Life Sciences, Cell Biology, Biochemistry, Immunology, Genetics,
Nemaline Myopathy   NEB   Omecamtiv Mecarbil   Cryptic Splice-site   Muscle Function  

Scientific Report: Analysis of NEB Pathogenic Variants Reveals Novel Mechanisms of Nemaline Myopathy and the Mechanical Effects of Omecamtiv Mecarbil Background and Motivation Nemaline Myopathy (NEM) is a rare and heterogeneous genetic disorder primarily characterized by hypotonia and muscle weakness. Pathologically, the disease is caused by the di...

Real-World Overall Survival and Treatment Patterns by PTEN Status in Metastatic Castration-Resistant Prostate Cancer

Medicine, Medical Laboratory Science, Urology, Oncology, Life Sciences, Cell Biology, Biochemistry, Genetics,
PTEN   Castration-Resistant Prostate Cancer   Overall Survival   Treatment Patterns   Genomic Testing  

Overall Survival and Treatment Patterns in Metastatic Castration-Resistant Prostate Cancer Patients Based on PTEN Status Academic Background Prostate cancer is one of the most common malignant tumors among men worldwide and a leading cause of cancer-related deaths. Approximately 10%-20% of prostate cancer patients will develop castration-resistant ...