Results 21 to 30 of about 1,458 (100)

Non-synonymous variants in the AMACR gene are associated with schizophrenia [PDF]

Schizophrenia Research, 2010
The AMACR gene is located in the schizophrenia susceptibility locus on chromosome 5p13, previously identified in a large Puerto Rican pedigree of Spanish origin. The AMACR-encoded protein is an enzyme involved in the metabolism of branched-chain fatty and bile acids. The enzyme deficiency causes structural and functional brain changes, and disturbances
Irina N, Bespalova, Martina, Durner, Benjamin P, Ritter, Gary W, Angelo, Enrique, Rossy-Fullana, Jose, Carrion-Baralt, James, Schmeidler, Jeremy M, Silverman   +7 more
openaire   +2 more sources

A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report

Frontiers in Pediatrics, 2020
Background: Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder characterized by a wide range of clinical features, including muscle weakness, hypoglycemia, metabolic acidosis, and multisystem dysfunctions.
Guorui Hu, Jingxia Zeng, Chunli Wang, Wei Zhou, Zhanjun Jia, Jun Yang, Bixia Zheng   +6 more
doaj   +1 more source

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

A Combined Functional Annotation Score for Non-Synonymous Variants [PDF]

Human Heredity, 2012
<i>Aims:</i> Next-generation sequencing has opened the possibility of large-scale sequence-based disease association studies. A major challenge in interpreting whole-exome data is predicting which of the discovered variants are deleterious or neutral.
Margarida C, Lopes, Chris, Joyce, Graham R S, Ritchie, Sally L, John, Fiona, Cunningham, Jennifer, Asimit, Eleftheria, Zeggini   +6 more
openaire   +2 more sources

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

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

Functional non-synonymous variants of ABCG2 and gout risk [PDF]

Rheumatology, 2017
Common dysfunctional variants of ATP binding cassette subfamily G member 2 (Junior blood group) (ABCG2), a high-capacity urate transporter gene, that result in decreased urate excretion are major causes of hyperuricemia and gout. In the present study, our objective was to determine the frequency and effect on gout of common and rare non-synonymous and ...
Blanka, Stiburkova, Katerina, Pavelcova, Jakub, Zavada, Lenka, Petru, Pavel, Simek, Pavel, Cepek, Marketa, Pavlikova, Hirotaka, Matsuo, Tony R, Merriman, Karel, Pavelka   +9 more
openaire   +2 more sources

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

VarMod: modelling the functional effects of non-synonymous variants [PDF]

Nucleic Acids Research, 2014
Unravelling the genotype-phenotype relationship in humans remains a challenging task in genomics studies. Recent advances in sequencing technologies mean there are now thousands of sequenced human genomes, revealing millions of single nucleotide variants (SNVs).
Morena Pappalardo, Mark N. Wass
openaire   +3 more sources