Results 31 to 40 of about 1,974,376 (233)

Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants

Molecular Genetics & Genomic Medicine, 2019
Background Pre‐mRNA splicing is a complex process requiring the identification of donor site, acceptor site, and branch point site with an adjacent polypyrimidine tract sequence.
Upendra K. Katneni, Aaron Liss, David Holcomb, Nobuko H. Katagiri, Ryan Hunt, Haim Bar, Amra Ismail, Anton A. Komar, Chava Kimchi‐Sarfaty   +8 more
doaj   +1 more source

Evaluation for Retinal Therapy for RPE65 Variation Assessed in hiPSC Retinal Pigment Epithelial Cells

Stem Cells International, 2021
Human induced pluripotent stem cells (hiPSCs) generated from patients and the derivative retinal cells enable the investigation of pathological and novel variants in relevant cell populations.
Benjamin M. Nash, To Ha Loi, Milan Fernando, Amin Sabri, James Robinson, Anson Cheng, Steven S. Eamegdool, Elizabeth Farnsworth, Bruce Bennetts, John R. Grigg, Seo-Kyung Chung, Anai Gonzalez-Cordero, Robyn V. Jamieson   +12 more
doaj   +1 more source

Genetic variability of E6 and E7 genes of human papillomavirus type 58 in Jingzhou, Hubei Province of central China

Virology Journal, 2022
Background Cervical cancer is a common malignant tumor in women, with a high mortality rate, has great harm to women’s health. Long-term and persistent infection of high-risk human papillomavirus (HR-HPV) is the main reason of the occurrence and ...
Zhiping Yang, Chunlin Zhang, Ping Luo, Mengxia Ye, Quan Gong, Bing Mei   +5 more
doaj   +1 more source

Mutation Analysis of NOS1 Exon 18 Polymorphisms with the Risk of Parkinson’s Disease: A Cross-sectional Study [PDF]

Journal of Clinical and Diagnostic Research
Introduction: Nitric Oxide Synthase 1 (NOS1) has been implicated in Parkinson’s Disease (PD) pathogenesis through its role in neuronal signaling and oxidative stress.
Gurushantappa S Kadakol, Bhushan B Kulkarni, Ashwini Hiremath   +2 more
doaj   +1 more source

Genetic variation of E6 and E7 genes of human papillomavirus type 16 from central China

Virology Journal, 2023
Background Persistent high-risk human papillomavirus (HR-HPV) infection is an important factor in the development of cervical cancer, and human papillomavirus type 16 (HPV-16) is the most common HR-HPV type worldwide. The oncogenic potential of HPV-16 is
Ting Li, Zhiping Yang, Chunlin Zhang, Sutong Wang, Bing Mei   +4 more
doaj   +1 more source

Synonymous variants associated with Alzheimer disease in multiplex families

Neurology: Genetics, 2020
Objective Synonymous variants can lead to disease; nevertheless, the majority of sequencing studies conducted in Alzheimer disease (AD) only assessed coding variation.
M. Tang, M. Alaniz, D. Felsky, B. Vardarajan, D. Reyes-Dumeyer, R. Lantigua, M. Medrano, D. Bennett, P. De Jager, R. Mayeux, I. Santa-María, C. Reitz   +11 more
semanticscholar   +1 more source

Prioritization of synonymous variants based on their predicted functional impact.

, 2023
Prioritization of synonymous variants based on their predicted functional impact.
Valentina Massa (5432648), Giulia Soldà (393631), Susana Caetano (6429194), Stefano Duga (393634), Umberto Ambrosetti (10122863), Karen P. Steel (8029544), Morag A. Lewis (6580436), Rosanna Asselta (274843), Chiara Chiereghin (4060432), Michela Robusto (4060426), Pierangela Castorina (4060429)   +10 more
core   +1 more source

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