Search
Search Results
-
PdmIRD: missense variants pathogenicity prediction for inherited retinal diseases in a disease-specific manner
Accurate discrimination of pathogenic and nonpathogenic variation remains an enormous challenge in clinical genetic testing of inherited retinal...
-
Pathogenicity of de novo CACNA1D Ca2+ channel variants predicted from sequence co-variation
Voltage-gated L-type Cav1.3 Ca 2+ channels support numerous physiological functions including neuronal excitability, sinoatrial node pacemaking,...
-
Isolation and pathogenicity of porcine circovirus type 2 in mice from Guangxi province, China
BackgroundPorcine circovirus type 2 (PCV2), a member of the genus Circovirus and family Circoviridae , is a closed, small, circular, and...
-
Augmentation of Omicron BA.1 pathogenicity in hamsters using intratracheal inoculation
The Omicron BA.1 variant of SARS-CoV-2 displays an attenuated phenotype in the Syrian hamster after intranasal inoculation. This is characterized by...
-
MHC class I links with severe pathogenicity in C57BL/6N mice infected with SARS-CoV-2/BMA8
BackgroundThe severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) causes non-symptomatic infection, mild influenza-like symptoms to...
-
Pathogenicity of Congenital Adrenal Hyperplasia Induced by the p.P377L Mutation of CYP11B1
CYP11B1 encodes an 11β-hydroxylase that is involved in the catalysis of adrenal glucocorticoids and the production of cortisol. Mutations in CYP11B1 ...
-
A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms
The ACTA2 gene codes for alpha-smooth muscle actin, a critical component of the contractile apparatus of the vascular smooth muscle cells. Autosomal...
-
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2
BackgroundThe distribution of ovarian tumour characteristics differs between germline BRCA1 and BRCA2 pathogenic variant carriers and non-carriers....
-
Parabacteroides distasonis regulates the infectivity and pathogenicity of SVCV at different water temperatures
BackgroundSpring viremia of carp virus (SVCV) infects a wide range of fish species and causes high mortality rates in aquaculture. This viral...
-
Evolution of Pathogenicity and Virulence
Evolutionary biologists define virulence as reduction in host fitness (survival and reproduction) caused by pathogens. The avirulence hypothesis...
-
Evaluation of in silico pathogenicity prediction tools for the classification of small in-frame indels
BackgroundThe use of in silico pathogenicity predictions as evidence when interpreting genetic variants is widely accepted as part of standard...
-
-
Hypovirulence-associated mycovirus epidemics cause pathogenicity degeneration of Beauveria bassiana in the field
BackgroundThe entomogenous fungus Beauveria bassiana is used as a biological insecticide worldwide, wild B. bassiana strains with high pathogenicity...
-
How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism
Precision medicine requires precise genetic variant interpretation, yet many disease-associated genes have unresolved variants of unknown...
-
Prioritizing genomic variants pathogenicity via DNA, RNA, and protein-level features based on extreme gradient boosting
Genetic diseases are mostly implicated with genetic variants, including missense, synonymous, non-sense, and copy number variants. These different...
-
Progesterone attenuates Th17-cell pathogenicity in autoimmune uveitis via Id2/Pim1 axis
BackgroundAutoimmune uveitis (AU) is the most common ophthalmic autoimmune disease (AD) and is characterized by a complex etiology, high morbidity,...
-
Hemizygosity can reveal variant pathogenicity on the X-chromosome
Pathogenic variants on the X-chromosome can have more severe consequences for hemizygous males, while heterozygote females can avoid severe...
-
X-CAP improves pathogenicity prediction of stopgain variants
Stopgain substitutions are the third-largest class of monogenic human disease mutations and often examined first in patient exomes. Existing...
-
Genetic characterization and pathogenicity of a Eurasian avian-like H1N1 swine influenza reassortant virus
BackgroundSwine influenza viruses (SIV), considered the “mixing vessels” of influenza viruses, posed a significant threat to global health systems...
-
Quantitative thresholds for variant enrichment in 13,845 cases: improving pathogenicity classification in genetic hearing loss
BackgroundThe American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) guidelines recommend using variant...
