Results 21 to 30 of about 130,329 (268)

Landscape of standing variation for tandem duplications in Drosophila yakuba and Drosophila simulans [PDF]

, 2014
We have used whole genome paired-end Illumina sequence data to identify tandem duplications in 20 isofemale lines of D. yakuba, and 20 isofemale lines of D. simulans and performed genome wide validation with PacBio long molecule sequencing. We identify 1,
Andolfatto, Peter, Cridland, Julie M., Hu, Tina T., Rogers, Rebekah L., Shao, Ling, Thornton, Kevin R.   +5 more
core   +3 more sources

Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory [PDF]

, 2016
Objectives: To implement non-invasive prenatal testing (NIPT) for fetal aneuploidies with semiconductor sequencing in an academic cytogenomic laboratory and to evaluate the first 15-month experience on clinical samples.
De Smet, Matthias, Dheedene, Annelies, Grisart, Bernard, Janssens, Sandra, Menten, Björn, Sante, Tom, Vanbellinghen, Jean-François, Vergult, Sarah   +7 more
core   +2 more sources

BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1

BMC Medical Genetics, 2009
Background Microdeletion of the chromosome 22q11.2 region is the most common genetic aberration among patients with velocardiofacial syndrome (VCFS) but a subset of subjects do not show alterations of this chromosome region.
Estivill Xavier, Gabau Elisabeth, García-Aragonés Manel, Heine Damià, Rosell Jordi, Armengol Lluís, Brunet Anna, Guitart Miriam   +7 more
doaj   +1 more source

Synchronization of a genetic oscillator with the cell division cycle

New Journal of Physics, 2022
Genetic circuits that control specific cellular functions are never fully insulated against influences of other parts of the cell. For example, they are subject to periodic modulation by the cell cycle through volume growth and gene doubling.
Gabriel Knotz, Ulrich Parlitz, Stefan Klumpp   +2 more
doaj   +1 more source

Functional Bias and Spatial Organization of Genes in Mutational Hot and Cold Regions in the Human Genome [PDF]

, 2004
The neutral mutation rate is known to vary widely along human chromosomes, leading to mutational hot and cold regions. We provide evidence that categories of functionally-related genes reside preferentially in mutationally hot or cold regions, the size ...
Chuang, Jeffrey H., Li, Hao
core   +5 more sources

The consequences of replicating in the wrong orientation: Bacterial chromosome duplication without an active replication origin [PDF]

, 2015
Chromosome replication is regulated in all organisms at the assembly stage of the replication machinery at specific origins. In Escherichia coli the DnaA initiator protein regulates the assembly of replication forks at oriC.
Dimude, JU, Foster, HA, Khan, A, Midgley-Smith, SL, Retkute, R, Rudolph, CJ, Saunders, NJ, Stockum, A, Upton, AL   +8 more
core   +1 more source

Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7

BMC Biology, 2021
Background Copy number variants (CNVs) linked to genes involved in nervous system development or function are often associated with neuropsychiatric disease.
Kesavan Meganathan, Ramachandran Prakasam, Dustin Baldridge, Paul Gontarz, Bo Zhang, Fumihiko Urano, Azad Bonni, Susan E. Maloney, Tychele N. Turner, James E. Huettner, John N. Constantino, Kristen L. Kroll   +11 more
doaj   +1 more source

Profiling allele-specific gene expression in brains from individuals with autism spectrum disorder reveals preferential minor allele usage. [PDF]

, 2019
One fundamental but understudied mechanism of gene regulation in disease is allele-specific expression (ASE), the preferential expression of one allele.
A Chess, A de la Chapelle, A Gimelbrant, A Hogart, A McKenna, A Mortazavi, AA Adegbola, AL Oberg, AM Veerappa, B DeVeale, B Howie, B Langmead, B Tycko, C Fuchsberger, C Gicquel, C Gregg, C Lee, CA de Leeuw, CCY Wong, Changhoon Lee, Cross-Disorder Group of the Psychiatric Genomics Consortium., D Kim, Daniel H. Geschwind, DH Geschwind, E Ben-David, E Eden, E Eden, E Gardiner, EH Cook Jr., Eleazar Eskin, EM Quinn, Eun Yong Kang, EY Kang, F Supek, GT Consortium, GV Kryukov, H Li, HA Scoles, I Iossifov, I Voineagu, J Cavaille, J Cavaille, J Grove, JC Darnell, JF Degner, JK Pickrell, KR Kukurba, M Elsabbagh, M Meguro-Horike, Michael J. Gandal, N Mukherjee, NN Parikshak, NN Parikshak, PH Sudmant, PS Bazeley, R Karlic, S Anders, S Kehr, S Kishore, S Nardone, S Purcell, Schizophrenia Working Group of the Psychiatric Genomics Consortium., SE Castel, SJ Sanders, SM Weyn-Vanhentenryck, T Hulsen, V Savova, Y Zhang, YE Wu   +68 more
core   +1 more source

Cytomolecular characterization of de novo formed rye B chromosome variants

Molecular Cytogenetics, 2012
Background B chromosomes (Bs) are dispensable elements which occur in many species including rye (Secale cereale). We determined the organization of B variants to obtain insights into the origin of B polymorphisms in rye.
Marques André, Klemme Sonja, Guerra Marcelo, Houben Andreas   +3 more
doaj   +1 more source

Gene identification for the cblD defect of vitamin B12 metabolism [PDF]

, 2008
Background Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways. Intracellular conversion of cobalamin to its two coenzymes, adenosylcobalamin in mitochondria and methylcobalamin in the cytoplasm, is necessary for the ...
Baumgartner, M R, Coelho, D, Fowler, B, Lerner-Ellis, J P, Newbold, R F, Rosenblatt, D S, Stucki, M, Suormala, T   +7 more
core   +1 more source