Complementation of Yeast Genes with Human Genes as an Experimental Platform for Functional Testing of Human Genetic Variants [PDF]
Genetics, 2015 Abstract While the pace of discovery of human genetic variants in tumors, patients, and diverse populations has rapidly accelerated, deciphering their functional consequence has become rate-limiting. Using cross-species complementation, model organisms like the budding yeast, Saccharomyces cerevisiae, can be utilized to fill this gap and
Akil Hamza +2 more
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Discovery of molecular and genetic mechanisms of cell cycle regulation: 2001 Nobel laureates leland Hartwell, Timothy Hunt and Paul Nurse [PDF]
The Ukrainian Biochemical Journal, 2023 Leland Hartwell, Paul Nurse and Timothy Hunt in 2001 were awarded the Nobel Prize for their discovery of molecular and genetic mechanisms of the cell cycle.
O. P. Matyshevska +3 more
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Evolution of mutational robustness in an RNA virus. [PDF]
PLoS Biology, 2005 Mutational (genetic) robustness is phenotypic constancy in the face of mutational changes to the genome. Robustness is critical to the understanding of evolution because phenotypically expressed genetic variation is the fuel of natural selection ...
Rebecca Montville +4 more
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A Genetic Study of Nif-Associated Genes in a Hyperthermophilic Methanogen
Microbiology Spectrum, 2022 Methanocaldococcus sp. strain FS406-22, a hyperthermophilic methanogen, fixes nitrogen with a minimal set of known nif genes. Only four structural nif genes, nifH, nifD, nifK, and nifE, are present in a cluster, and a nifB homolog is present elsewhere in
Thomas J. Lie +5 more
doaj +1 more source
In vivo Modeling Implicates APOL1 in Nephropathy: Evidence for Dominant Negative Effects and Epistasis under Anemic Stress. [PDF]
PLoS Genetics, 2015 African Americans have a disproportionate risk for developing nephropathy. This disparity has been attributed to coding variants (G1 and G2) in apolipoprotein L1 (APOL1); however, there is little functional evidence supporting the role of this protein in
Blair R Anderson +7 more
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Journal of Applied Sciences and Environmental Management, 2021 In this investigation, Aspergillus niger isolated from eight food substances, have been classified based on the absence of heterokaryon formation. The size of their sporangia were differentiated, the wild and mutant strains were subjected to vegetative ...
L. Eboigbe, M.O. Omoregbe
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An Interspecific Functional Complementation Test in Drosophila for Introductory Genetics Laboratory Courses [PDF]
Journal of Heredity, 2006 Introductory genetics courses often include evolutionary genetics concepts such as sequence homology and functional conservation. It is usually assumed that two sequences showing homology (i.e., sharing a common ancestral sequence) perform the same molecular function.
Lidon, Monferrer, Ruben, Artero
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A modified screening system for loss-of-function and dominant negative alleles of essential MCMV genes. [PDF]
PLoS ONE, 2014 Inactivation of gene products by dominant negative mutants is a valuable tool to assign functions to yet uncharacterized proteins, to map protein-protein interactions or to dissect physiological pathways.
Madlen Pogoda +4 more
doaj +1 more source
Functional Complement Analysis Can Predict Genetic Testing Results and Long-Term Outcome in Patients With Complement Deficiencies [PDF]
Frontiers in Immunology, 2018 Prevalence of complement deficiencies (CDs) is markedly higher in Slovenian primary immunodeficiency (PID) registry in comparison to other national and international PID registries.The purposes of our study were to confirm CD and define complete and partial CD in registered patients in Slovenia, to evaluate frequency of clinical manifestations, and to ...
Štefan Blazina +13 more
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Genetic testing of complement and coagulation pathways in patients with severe hypertension and renal microangiopathy [PDF]
Modern Pathology, 2018 A diagnosis of thrombotic microangiopathy on kidney biopsy in a patient presenting with hypertensive emergency has historically elicited the diagnosis of malignant hypertension-associated thrombotic microangiopathy. Recent studies, however, have raised awareness that a number of these patients may actually represent atypical hemolytic uremic syndrome ...
Larsen, Christopher P +4 more
openaire +2 more sources