Results 81 to 90 of about 475,380 (299)

Whole‐genome re‐sequencing reveals the impact of the interaction of copy number variants of the rhg1 and Rhg4 genes on broad‐based resistance to soybean cyst nematode

Plant Biotechnology Journal, 2019
Summary Soybean cyst nematode (SCN) is the most devastating plant‐parasitic nematode. Most commercial soybean varieties with SCN resistance are derived from PI88788.
G. Patil, G. Patil, N. Lakhssassi, J. Wan, Li Song, Zhou Zhou, M. Klepadlo, T. Vuong, A. Stec, Sondus S Kahil, V. Colantonio, B. Valliyodan, J. H. Rice, Sarbottam Piya, T. Hewezi, R. Stupar, K. Meksem, H. Nguyen   +17 more
semanticscholar   +1 more source

Neurologic Features with Pathogenic Copy Number Variants

Pediatric Neurology Briefs, 2020
Investigators from Children's Hospital at Westmead, University of Sydney, performed a retrospective review (2006-2012) of the diagnostic yield of array comparative genomic hybridization (aCGH) among 555 children with diverse neurologic phenotypes in whom a genetic etiology was suspected [1].
openaire   +3 more sources

Sequence determinants of RNA G‐quadruplex unfolding by Arg‐rich regions

FEBS Letters, EarlyView.
We show that Arg‐rich peptides selectively unfold RNA G‐quadruplexes, but not RNA stem‐loops or DNA/RNA duplexes. This length‐dependent activity is inhibited by acidic residues and is conserved among SR and SR‐related proteins (SRSF1, SRSF3, SRSF9, U1‐70K, and U2AF1).
Naiduwadura Ivon Upekala De Silva, Puspa Kunwar, Md Ibnul Rifat Rahman, Joanna Koryo Kwao, Nathan Lehman, Zihan Zhang, Trenton Paul, Claire Cheng, Nicholas Truex, Hui‐Ting Lee, Jun Zhang   +10 more
wiley   +1 more source

Impact of constitutional copy number variants on biological pathway evolution

BMC Evolutionary Biology, 2013
Background Inherited Copy Number Variants (CNVs) can modulate the expression levels of individual genes. However, little is known about how CNVs alter biological pathways and how this varies across different populations.
Poptsova Maria, Banerjee Samprit, Gokcumen Omer, Rubin Mark A, Demichelis Francesca   +4 more
doaj   +1 more source

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease

Genetics in Medicine, 2018
Current diagnostic testing for genetic disorders involves serial use of specialized assays spanning multiple technologies. In principle, genome sequencing (GS) can detect all genomic pathogenic variant types on a single platform.
Andrew M. Gross, S. Ajay, Vani Rajan, Carolyn Brown, Krista K. Bluske, Nicole J. Burns, Aditi Chawla, A. Coffey, A. Malhotra, A. Scocchia, Erin Thorpe, N. Dzidic, K. Hovanes, PhD Facmg, T. Sahoo, MD Facmg, E. Dolzhenko, B. Lajoie, A. Khouzam, S. Chowdhury, J. Belmont, Eric Roller, S. Ivakhno, Stephen W. Tanner, Julia McEachern, T. Hambuch, M. Eberle, R. T. Hagelstrom, D. Bentley, D. Perry, R. Taft   +30 more
semanticscholar   +1 more source

Copy number variants in patients with short stature [PDF]

European Journal of Human Genetics, 2013
Height is a highly heritable and classic polygenic trait. Recent genome-wide association studies (GWAS) have revealed that at least 180 genetic variants influence adult height. However, these variants explain only about 10% of the phenotypic variation in height.
Duyvenvoorde, H.A. van, Lui, J.C., Kant, S.G., Oostdijk, W., Gijsbers, A.C.J., Hoffer, M.J.V., Karperien, M., Walenkamp, M.J.E., Noordam, C., Voorhoeve, P.G., Mericq, V., Pereira, A.M., Claahsen-van de Grinten, H.L., Gool, S.A. van, Breuning, M.H., Losekoot, M., Baron, J., Ruivenkamp, C.A.L., Wit, J.M.   +18 more
openaire   +8 more sources

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

FEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li, Pedro A. Sánchez‐Murcia, Bernd Nidetzky   +2 more
wiley   +1 more source

Influence of genetic copy number variants of the human GLUT3 glucose transporter gene SLC2A3 on protein expression, glycolysis and rheumatoid arthritis risk: A genetic replication study

Molecular Genetics and Metabolism Reports, 2019
Objectives: The gene encoding glucose transporter 3 (GLUT3, SLC2A3) is present in the human population at variable copy number. An overt disease phenotype of SLC2A3 copy number variants has not been reported; however, deletion of SLC2A3 has been ...
Kim R. Simpfendorfer, Wentian Li, Andrew Shih, Hongxiu Wen, Harini P. Kothari, Edward A. Einsidler, Arthur Wuster, Julie Hunkapiller, Timothy W. Behrens, Robert R. Graham, Michael J. Townsend, Doron M. Behar, Rui Hu, Elliott Greenspan, Peter K. Gregersen   +14 more
doaj   +1 more source

Gene Copy Number Variation Does Not Reflect Structure or Environmental Selection in Two Recently Diverged California Populations of Suillus brevipes

G3: Genes, Genomes, Genetics, 2020
Gene copy number variation across individuals has been shown to track population structure and be a source of adaptive genetic variation with significant fitness impacts.
Anna L. Bazzicalupo, Mallory Thomas, Robert Mason, Munro-Ehrlich, Sara Branco   +4 more
doaj   +1 more source

isoCNV: in silico optimization of copy number variant detection from targeted or exome sequencing data

BMC Bioinformatics, 2021
Background Accurate copy number variant (CNV) detection is especially challenging for both targeted sequencing (TS) and whole‐exome sequencing (WES) data.
Rosa Barcelona-Cabeza, Walter Sanseverino, Riccardo Aiese Cigliano   +2 more
doaj   +1 more source