Search
Search Results
-
Molecular Dynamic Simulations to Determine Individualized Therapy: Tetrabenazine for the GNAO1 Encephalopathy E246K Variant
IntroductionGNAO1 encephalopathy is characterized by severe hypotonia, psychomotor retardation, epilepsy, and movement disorders. Genetic variations...
-
The Schwann cell-specific G-protein Gαo (Gnao1) is a cell-intrinsic controller contributing to the regulation of myelination in peripheral nerve system
Myelin sheath abnormality is the cause of various neurodegenerative diseases (NDDs). G-proteins and their coupled receptors (GPCRs) play the...
-
Mouse models characterize GNAO1 encephalopathy as a neurodevelopmental disorder leading to motor anomalies: from a severe G203R to a milder C215Y mutation
GNAO1 encephalopathy characterized by a wide spectrum of neurological deficiencies in pediatric patients originates from de novo heterozygous...
-
Genes CEP55, FOXD3, FOXF2, GNAO1, GRIA4, and KCNA5 as potential diagnostic biomarkers in colorectal cancer
BackgroundColorectal cancer (CRC) is one of the leading causes of death by cancer worldwide and in need of novel potential diagnostic biomarkers for...
-
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy
We performed whole-genome sequencing (WGS) in 327 children with cerebral palsy (CP) and their biological parents. We classified 37 of 327 (11.3%)...
-
Identification of circRNA–miRNA–mRNA networks contributes to explore underlying pathogenesis and therapy strategy of gastric cancer
BackgroundCircular RNAs (circRNAs) are a new class of noncoding RNAs that have gained increased attention in human tumor research. However, the...
-
RGS1 and related genes as potential targets for immunotherapy in cervical cancer: computational biology and experimental validation
BackgroundEffective treatment is needed for advanced, inoperable, or chemotherapy-resistant cervical cancer patients. Immunotherapy has become a new...
-
Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory
BackgroundThe widespread clinical application of genome-wide sequencing has resulted in many new diagnoses for rare genetic conditions, but testing...
-
Impact of maternal immune activation and sex on placental and fetal brain cytokine and gene expression profiles in a preclinical model of neurodevelopmental disorders
Maternal inflammation during gestation is associated with a later diagnosis of neurodevelopmental disorders including autism spectrum disorder (ASD)....
-
Gene expression and methylation profiles show the involvement of POMC in primary hyperparathyroidsm
Primary hyperparathyroidism (PHPT) is mainly caused by parathyroid adenoma, which produces excess parathyroid hormones. Its pathogenic mechanisms...
-
Genetic Factors of Reflex Epilepsies
AbstractReflex epilepsy is a relatively rare form of epilepsy, occurring only in five percent of all cases of this disease. The genetic factors of...
-
Analysis of Differentially Expressed Genes between Paroxysmal and Persistent Atrial Fibrillation
AbstractAtrial fibrillation is one of the most common arrhythmias in adults. There is a significant difference in the curative effect between...
-
Epigenetic modification of m6A regulator proteins in cancer
Divergent N 6 -methyladenosine (m 6 A) modifications are dynamic and reversible posttranscriptional RNA modifications that are mediated by m 6 A regulators...
-
-
-
Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation
Biallelic SHQ1 variant-related neurodevelopmental disorder is extremely rare. To date, only six affected individuals, from four families, have been...
-
Sex-specific genetic architecture of blood pressure
The genetic and genomic basis of sex differences in blood pressure (BP) traits remain unstudied at scale. Here, we conducted sex-stratified and...
-
Ubiquitinomics revealed disease- and stage-specific patterns relevant for the 3PM approach in human sigmoid colon cancers
ObjectiveThe patients with sigmoid colorectal cancer commonly show high mortality and poor prognosis. Increasing evidence has demonstrated that the...
-
Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease
BackgroundDe novo mutations (DNMs) are variants that occur anew in the offspring of noncarrier parents. They are not inherited from either parent...
-
First Transcriptome Analysis of Hepatoblastoma in Brazil: Unraveling the Pivotal Role of Noncoding RNAs and Metabolic Pathways
Hepatoblastoma stands as the most prevalent liver cancer in the pediatric population. Characterized by a low mutational burden, chromosomal and...
