Novel biallelic variants in the PLEC gene are associated with severe hearing loss
T Zhang, Z Xu, D Zheng, X Wang, J He, L Zhang… - Hearing Research, 2023 - Elsevier
Pediatric auditory neuropathy spectrum disorder is a particular type of hearing loss caused
by abnormal sound transmission from the cochlea to the brain. It is due to defective …
by abnormal sound transmission from the cochlea to the brain. It is due to defective …
Dynamics of TUBB protein with five majorly occurring natural variants: a risk of cortical dysplasia
V Janakiraman, M Sudhan, KJ Alzahrani… - Journal of Molecular …, 2023 - Springer
Beta-tubulin (TUBB) protein is one of the components of the microtubule cytoskeleton that
plays a critical role in the central nervous system. Genetic variants of TUBB cause cortical …
plays a critical role in the central nervous system. Genetic variants of TUBB cause cortical …
Novel polymorphisms and genetic studies of the shadow of prion protein gene (SPRN) in pheasants
Background Prion diseases in mammals are caused by the structural conversion of the
natural prion protein (PrPC) to a pathogenic isoform, the “scrapie form of prion protein …
natural prion protein (PrPC) to a pathogenic isoform, the “scrapie form of prion protein …
[HTML][HTML] In Silico Evaluation of the Potential Association of the Pathogenic Mutations of Alpha Synuclein Protein with Induction of Synucleinopathies
Alpha synuclein (α-Syn) is a neuronal protein encoded by the SNCA gene and is involved in
the development of Parkinson's disease (PD). The objective of this study was to examine in …
the development of Parkinson's disease (PD). The objective of this study was to examine in …
[HTML][HTML] An In silico Approach towards Finding the Cancer-Causing Mutations in Human MET Gene
FS Laskar, MNI Bappy, MS Hossain, Z Alam… - International Journal of …, 2023 - hindawi.com
Mesenchymal–epithelial transition (MET) factor is a proto-oncogene encoding tyrosine
kinase receptor with hepatocyte growth factor (HGF) or scatter factor (SF). It is found on the …
kinase receptor with hepatocyte growth factor (HGF) or scatter factor (SF). It is found on the …
[HTML][HTML] Molecular characterization of coxsackievirus B5 from the sputum of pneumonia children patients of Kunming, Southwest China
M Tan, J Suo, Z Zhang, W He, L Tan, H Jiang, M Li… - Virology Journal, 2023 - Springer
Background CVB5 can cause respiratory infections. However, the molecular
epidemiological information about CVB5 in respiratory tract samples is still limited. Here, we …
epidemiological information about CVB5 in respiratory tract samples is still limited. Here, we …
[PDF][PDF] Bioinformatics analysis of missense mutations in CXCR1 implicates altered protein stability and function
Human CXCR1 is a G-protein α subunit i (Gαi)-coupled receptor (GPCR) that plays an
important role in promoting leukocyte recruitment and activation in inflammatory regions; …
important role in promoting leukocyte recruitment and activation in inflammatory regions; …
A Mechanistic Basis for the Analysis of SARS-CoV-2 Omicron Variant Severity
The rise of SARS-CoV-2/COVID-19 and its many evolving variants has killed millions in
recent years. SARS-CoV-2 is still regularly mutating and recent trends have shown the …
recent years. SARS-CoV-2 is still regularly mutating and recent trends have shown the …
[PDF][PDF] Research Article An In silico Approach towards Finding the Cancer-Causing Mutations in Human MET Gene
FS Laskar, MNI Bappy, MS Hossain, Z Alam, D Afrin… - 2023 - academia.edu
Mesenchymal–epithelial transition (MET) factor is a proto-oncogene encoding tyrosine
kinase receptor with hepatocyte growth factor (HGF) or scatter factor (SF). It is found on the …
kinase receptor with hepatocyte growth factor (HGF) or scatter factor (SF). It is found on the …