Single nucleotide polymorphisms of the fukutin gene [PDF]
Journal of Human Genetics, 2001 Mutations in the LMNA gene, which encodes nuclear lamins A and C, underlie both Emery-Dreifuss muscular dystrophy (EMD2) and Dunnigan-type familial partial lipodystrophy (FPLD). This indicates that one gene can cause different phenotypes characterized by tissue degeneration. The gene for one form of Berardinelli-Seip-type congenital total lipodystrophy
Henian Cao +2 more
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The Drosophila genome nexus: a population genomic resource of 623 Drosophila melanogaster genomes, including 197 from a single ancestral range population. [PDF]
, 2015 Hundreds of wild-derived Drosophila melanogaster genomes have been published, but rigorous comparisons across data sets are precluded by differences in alignment methodology.
Cardeno, Charis M +7 more
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dbSNP: a database of single nucleotide polymorphisms [PDF]
Nucleic Acids Research, 2000 In response to a need for a general catalog of genome variation to address the large-scale sampling designs required by association studies, gene mapping and evolutionary biology, the National Cancer for Biotechnology Information (NCBI) has established the dbSNP database. Submissions to dbSNP will be integrated with other sources of information at NCBI
Minghong Ward +3 more
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Aggregation of Single Nucleotide Polymorphisms in a Human H5N1 Clade 2.2 Hemagglutinin [PDF]
, 2007 The evolution of H5N1 has attracted significant interest 1-4 due to linkages with avian 5,6 and human infections 7,8. The basic tenets of influenza genetics 9 attribute genetic drift to replication errors caused by a polymerase complex that lacks a ...
Abdelattar Arafa +17 more
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Impact of IFN lambda 3/4 single nucleotide polymorphisms on the cytomegalovirus reactivation in autologous stem cell transplant patients [PDF]
, 2018 Cytomegalovirus (CMV) infection represents one of the main cause mortality after Stem Cell Transplantation. Recently, a protective effect of the T allele of rs12979860 IL28B Single Nucleotide Polymorphisms (SNPs) against CMV infection in the allogenic ...
Angeletti, S +13 more
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Single nucleotide polymorphisms as a prerequisite for autoantigens [PDF]
European Journal of Immunology, 2005 AbstractIt is still elusive why certain self proteins induce an autoimmune response. One immunological hypothesis is that only modified or altered self‐proteins may become a target. Thus, we asked whether such alterations may actually be genetic polymorphisms that can be revealed by analyzing sequence variability in the known human autoantigens. Indeed,
Sarah Luginbühl +4 more
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Accurate differentiation of Escherichia coli and Shigella serogroups: challenges and strategies
New Microbes and New Infections, 2018 Shigella spp. and Escherichia coli are closely related; both belong to the family Enterobacteriaceae. Phenotypically, Shigella spp. and E. coli share many common characteristics, yet they have separate entities in epidemiology and clinical disease, which
N.K. Devanga Ragupathi +3 more
doaj +1 more source
Association of rs2075650 polymorphism of tomm40 gene with type 2 diabetes in Dilijan city, Iran [PDF]
مجله علوم پزشکی فیض (پیوسته), 2023 Background and Aim: The tomm40 gene encodes the Tomm40 protein, which is a translocase in the mitochondrial outer membrane. Changes in the tomm40 gene can lead to mitochondrial dysfunction. In this study, the association between rs2075650 polymorphism of
Maryam Salavatifar +2 more
doaj
Relationships Among Beef Cow Productivity Traits and Single Nucleotide Polymorphisms in the Bovine Heat Shock Protein 70 Gene [PDF]
, 2018 When eukaryotes are exposed to stressors such as heat, toxins, and low oxygen levels, heat shock proteins (HSPs) are synthesized to maintain normal cellular function within the body.
Finney, Ashley
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Российский кардиологический журнал, 2019 Aim. To confirm the association between sudden cardiac death (SCD) and single nucleotide polymorphisms rs7164665, rs71461059, rs74765750, rs6762529, identified in own genome-wide associative study as new molecular genetic markers of SCD.Material and ...
A. A. Ivanova +4 more
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