Results 31 to 40 of about 1,458 (100)

Influence of PRKCE non-synonymous variants on protein dynamics and functionality

Human Molecular Genetics, 2022
AbstractNovel protein kinase C (nPKC) family member, protein kinase C epsilon (PKCε) is an AGC kinase superfamily member. It is associated with neurological and metabolic diseases as well as human cancers. No study so far has been conducted to identify genetic variations and their effect on PKCε folding and functioning.
Khushbukhat Khan, Hania Shah, Areeba Rehman, Yasmin Badshah, Naeem M Ashraf, Maria Shabbir   +5 more
openaire   +2 more sources

A novel synonymous ABCA3 variant identified in a Chinese family with lethal neonatal respiratory failure

BMC Medical Genomics, 2021
Background Lethal respiratory failure is primarily caused by a deficiency of pulmonary surfactant, and is the main cause of neonatal death among preterm infants.
Weifeng Zhang, Zhiyong Liu, Yiming Lin, Ruiquan Wang, Jinglin Xu, Ying He, Fengfeng Zhang, Lianqiang Wu, Dongmei Chen   +8 more
doaj   +1 more source

The population frequency of human mitochondrial DNA variants is highly dependent upon mutational bias

Biology Open, 2021
Next-generation sequencing can quickly reveal genetic variation potentially linked to heritable disease. As databases encompassing human variation continue to expand, rare variants have been of high interest, since the frequency of a variant is expected ...
Cory D. Dunn
doaj   +1 more source

Functional coding variants in SLC6A15, a possible risk gene for major depression.

PLoS ONE, 2013
SLC6A15 is a neuron-specific neutral amino acid transporter that belongs to the solute carrier 6 gene family. This gene family is responsible for presynaptic re-uptake of the majority of neurotransmitters.
Carina Quast, Serena Cuboni, Daniel Bader, André Altmann, Peter Weber, Janine Arloth, Simone Röh, Tanja Brückl, Marcus Ising, Anna Kopczak, Angelika Erhardt, Felix Hausch, Susanne Lucae, Elisabeth B Binder   +13 more
doaj   +1 more source

Broken silence: 22,841 predicted deleterious synonymous variants identified in the human exome through computational analysis [PDF]

Genetics and Molecular Biology
Synonymous single nucleotide variants (sSNVs) do not alter the primary structure of a protein, thus it was previously accepted that they were neutral. Recently, several studies demonstrated their significance to a range of diseases.
Ana Carolina Mello, Delva Leao, Luis Dias, Felipe Colombelli, Mariana Recamonde-Mendoza, Andreia Carina Turchetto-Zolet, Ursula Matte   +6 more
doaj   +1 more source

Annotating pathogenic non-coding variants in genic regions

Nature Communications, 2017
While non-coding synonymous and intronic variants are often not under strong selective constraint, they can be pathogenic through affecting splicing or transcription.
Sahar Gelfman, Quanli Wang, K. Melodi McSweeney, Zhong Ren, Francesca La Carpia, Matt Halvorsen, Kelly Schoch, Fanni Ratzon, Erin L. Heinzen, Michael J. Boland, Slavé Petrovski, David B. Goldstein   +11 more
doaj   +1 more source

Negative linkage disequilibrium between amino acid changing variants reveals interference among deleterious mutations in the human genome.

PLoS Genetics, 2021
Evolutionary forces like Hill-Robertson interference and negative epistasis can lead to deleterious mutations being found on distinct haplotypes. However, the extent to which these forces depend on the selection and dominance coefficients of deleterious ...
Jesse A Garcia, Kirk E Lohmueller
doaj   +1 more source

SCREENING OF ONCOGENIC VARIANTS IN DNA POLYMERASES WITH TRANSLESION SYNTHESIS ACTIVITY IN MYELODYSPLASTIC NEOPLASM

Hematology, Transfusion and Cell Therapy, 2023
Introduction: Myelodysplastic Neoplasm (MDS) is characterized by cytogenetic alterations in 40-60% of cases and 94% have at least one oncogenic mutation.
RTG Oliveira, ME Escócia, LR Sampaio, DP Borges, JVC Goes, MA Viana, RDB Dias, NFAM Mendonça, SMM Magalhães, RF Pinheiro   +9 more
doaj   +1 more source

Surveillance for feline herpesvirus type 1 mutation and development of resistance in cats treated with antiviral medications

Frontiers in Veterinary Science, 2023
Feline herpesvirus type 1 (FHV-1) commonly causes ocular surface disease in cats and is treated with antiviral medications targeting viral DNA polymerase (UL30/42).
Andrew C. Lewin, Nikole E. Ineck, Melanie A. Mironovich, Morgan E. Marino, Chin-Chi Liu, Ugochi Emelogu, Erinn P. Mills, Pilar Camacho-Luna, Renee T. Carter   +8 more
doaj   +1 more source

Rare variant contribution to cholestatic liver disease in a South Asian population in the United Kingdom

Scientific Reports, 2023
This study assessed the contribution of five genes previously known to be involved in cholestatic liver disease in British Bangladeshi and Pakistani people.
Julia Zöllner, Sarah Finer, Kenneth J. Linton, Genes and Health Research Team, David A. van Heel, Catherine Williamson, Peter H. Dixon   +6 more
doaj   +1 more source