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Total 47651 results found since Jan 2013.
Genome diversity of Borrelia garinii sustained in marine transmission cycles by Ixodes uriae does not match host association but reflects the strains evolutionary history
Infect Genet Evol. 2023 Sep 14:105502. doi: 10.1016/j.meegid.2023.105502. Online ahead of print.ABSTRACTBorrelia burgdorferi sensu lato is a species complex of spirochetal bacteria that occupy different ecological niches which is reflected in their reservoir host- and vector-associations. Borrelia genomes possess numerous linear and circular plasmids. Proteins encoded by plasmid genes play a major role in host- and vector-interaction and are important for Borrelia niche adaptation. However, the plasmid composition and therewith the gene repertoire may vary even in strains of a single species. Borrelia garinii, one of the s...
Source: Infection, Genetics and Evolution - September 16, 2023 Category: Genetics & Stem Cells Authors: Gabriele Margos Markus Hofmann Sherwood Casjens Marlene Dupraz Susanne Heinzinger Christine Hartberger Sabrina Hepner Mercy Schmeusser Andreas Sing Volker Fingerle Karen D McCoy Source Type: research
Genetic diagnostic yield in an 11-year cohort of craniosynostosis patients
Eur J Med Genet. 2023 Sep 14:104843. doi: 10.1016/j.ejmg.2023.104843. Online ahead of print.ABSTRACTCraniosynostosis may present in isolation, 'non-syndromic', or with additional congenital anomalies/neurodevelopmental disorders, 'syndromic'. Clinical focus shifted from confirming classical syndromic cases to offering genetic testing to all craniosynostosis patients. This retrospective study assesses diagnostic yield of molecular testing by investigating prevalences of chromosomal and monogenic (likely) pathogenic variants in an 11-year cohort of 1020 craniosynostosis patients. 502 children underwent genetic testing. Patho...
Source: European Journal of Medical Genetics - September 16, 2023 Category: Genetics & Stem Cells Authors: Linda Gaillard Anne Goverde Marjolein J A Weerts Annelies de Klein Irene M J Mathijssen Marieke F Van Dooren Source Type: research
Live cell transcription-coupled nucleotide excision repair dynamics revisited
In this study, we employ knock-in cell lines designed to target the endogenous CSB gene locus with mClover, a GFP variant. Through live cell imaging, we uncover the intricate molecular dynamics of CSB in response to physiologically relevant UV doses. We showed that the DNA damage-induced association of CSB with chromatin is tightly regulated by the CSA-containing ubiquitin-ligase CRL complex (CRL4CSA). Combining the CSB-mClover knock-in cell line with SILAC-based GFP-mediated complex isolation and mass-spectrometry-based proteomics, revealed novel putative CSB interactors as well as discernible variations in complex compos...
Source: DNA Repair - September 16, 2023 Category: Genetics & Stem Cells Authors: Diana A Llerena Schiffmacher Katarzyna W Kliza Arjan F Theil Gert-Jan Kremers Jeroen A A Demmers Tomoo Ogi Michiel Vermeulen Wim Vermeulen Alex Pines Source Type: research
Take a walk on the KRAB side
Trends Genet. 2023 Sep 14:S0168-9525(23)00185-3. doi: 10.1016/j.tig.2023.08.003. Online ahead of print.ABSTRACTCanonical Krüppel-associated box (KRAB)-containing zinc finger proteins (KZFPs) act as major repressors of transposable elements (TEs) via the KRAB-mediated recruitment of the heterochromatin scaffold KRAB-associated protein (KAP)1. KZFP genes emerged some 420 million years ago in the last common ancestor of coelacanth, lungfish, and tetrapods, and dramatically expanded to give rise to lineage-specific repertoires in contemporary species paralleling their TE load and turnover. However, the KRAB domain displays se...
Source: Trends in Genetics : TIG - September 16, 2023 Category: Genetics & Stem Cells Authors: Olga Rosspopoff Didier Trono Source Type: research
Genetic diagnostic yield in an 11-year cohort of craniosynostosis patients
Eur J Med Genet. 2023 Sep 14:104843. doi: 10.1016/j.ejmg.2023.104843. Online ahead of print.ABSTRACTCraniosynostosis may present in isolation, 'non-syndromic', or with additional congenital anomalies/neurodevelopmental disorders, 'syndromic'. Clinical focus shifted from confirming classical syndromic cases to offering genetic testing to all craniosynostosis patients. This retrospective study assesses diagnostic yield of molecular testing by investigating prevalences of chromosomal and monogenic (likely) pathogenic variants in an 11-year cohort of 1020 craniosynostosis patients. 502 children underwent genetic testing. Patho...
Source: European Journal of Medical Genetics - September 16, 2023 Category: Genetics & Stem Cells Authors: Linda Gaillard Anne Goverde Marjolein J A Weerts Annelies de Klein Irene M J Mathijssen Marieke F Van Dooren Source Type: research
Genetic dissection of root architecture in Ethiopian sorghum landraces
This study quantified genetic variation in root system architecture (root number, angle, length and dry mass) within a diversity panel of 1771 Ethiopian sorghum landraces and identified 22 genomic regions associated with the root variations. The root system architecture (RSA) of crop plants influences adaptation to water-limited conditions and determines the capacity of a plant to access soil water and nutrients. Four key root traits (number, angle, length and dry mass) were evaluated in a diversity panel of 1771 Ethiopian sorghum landraces using purpose-built root chambers. Significant genetic variation was observed in al...
Source: TAG. Theoretical and Applied Genetics - September 16, 2023 Category: Genetics & Stem Cells Authors: Temesgen Menamo Andrew K Borrell Emma Mace David R Jordan Yongfu Tao Colleen Hunt Bantte Kassahun Source Type: research
Take a walk on the KRAB side
Trends Genet. 2023 Sep 14:S0168-9525(23)00185-3. doi: 10.1016/j.tig.2023.08.003. Online ahead of print.ABSTRACTCanonical Krüppel-associated box (KRAB)-containing zinc finger proteins (KZFPs) act as major repressors of transposable elements (TEs) via the KRAB-mediated recruitment of the heterochromatin scaffold KRAB-associated protein (KAP)1. KZFP genes emerged some 420 million years ago in the last common ancestor of coelacanth, lungfish, and tetrapods, and dramatically expanded to give rise to lineage-specific repertoires in contemporary species paralleling their TE load and turnover. However, the KRAB domain displays se...
Source: Trends in Genetics : TIG - September 16, 2023 Category: Genetics & Stem Cells Authors: Olga Rosspopoff Didier Trono Source Type: research
Live cell transcription-coupled nucleotide excision repair dynamics revisited
In this study, we employ knock-in cell lines designed to target the endogenous CSB gene locus with mClover, a GFP variant. Through live cell imaging, we uncover the intricate molecular dynamics of CSB in response to physiologically relevant UV doses. We showed that the DNA damage-induced association of CSB with chromatin is tightly regulated by the CSA-containing ubiquitin-ligase CRL complex (CRL4CSA). Combining the CSB-mClover knock-in cell line with SILAC-based GFP-mediated complex isolation and mass-spectrometry-based proteomics, revealed novel putative CSB interactors as well as discernible variations in complex compos...
Source: DNA Repair - September 16, 2023 Category: Genetics & Stem Cells Authors: Diana A Llerena Schiffmacher Katarzyna W Kliza Arjan F Theil Gert-Jan Kremers Jeroen A A Demmers Tomoo Ogi Michiel Vermeulen Wim Vermeulen Alex Pines Source Type: research
Genes, Vol. 14, Pages 1807: Aldehyde Dehydrogenase Genes as Prospective Actionable Targets in Acute Myeloid Leukemia
In conclusion, we identify ALDH1A1 and ALDH2 as prospective actionable targets for the treatment of AML in high-risk patients. Substances that inhibit both enzymatic activities constitute potentially effective pharmaceutics.
Source: Genes - September 16, 2023 Category: Genetics & Stem Cells Authors: Garrett M. Dancik Lokman Varisli Veysel Tolan Spiros Vlahopoulos Tags: Article Source Type: research
Tyrosine glucosylation of collagen films exploiting Horseradish Peroxidase (HRP)
Carbohydr Res. 2023 Sep 9;533:108938. doi: 10.1016/j.carres.2023.108938. Online ahead of print.ABSTRACTThe development of human tissue models for regenerative medicine and animal-free drug screening requires glycosylated biomaterials such as collagen. An easy and fast biomaterial glycosylation method exploiting Horseradish Peroxidase (HRP) phenol coupling reaction is proposed. The protocol is adaptable to any polymer functionalized with phenol residues or tyrosine containing proteins. As a model the tyrosine residues on collagen films were functionalized with salidroside, a natural β-glucoside with a phenol in the aglycon...
Source: Carbohydrate Research - September 15, 2023 Category: Genetics & Stem Cells Authors: Francesca Cadamuro Matteo Ferrario Raziyeh Akbari Carlo Antonini Francesco Nicotra Laura Russo Source Type: research
Landmarks in the history of selective sweeps
Anim Genet. 2023 Sep 14. doi: 10.1111/age.13355. Online ahead of print.ABSTRACTHalf a century ago, a seminal article on the hitchhiking effect by Smith and Haigh inaugurated the concept of the selection signature. Selective sweeps are characterised by the rapid spread of an advantageous genetic variant through a population and hence play an important role in shaping evolution and research on genetic diversity. The process by which a beneficial allele arises and becomes fixed in a population, leading to a increase in the frequency of other linked alleles, is known as genetic hitchhiking or genetic draft. Kimura's neutral th...
Source: Animal Genetics - September 15, 2023 Category: Genetics & Stem Cells Authors: Manjit Panigrahi Divya Rajawat Sonali Sonejita Nayak Kanika Ghildiyal Anurodh Sharma Karan Jain Chuzhao Lei Bharat Bhushan Bishnu Prasad Mishra Triveni Dutt Source Type: research
Vitis Myb14 confer cold and drought tolerance by activating Lipid transfer protein genes expression and Reactive oxygen species scavenge
In this study, we investigate its role in abiotic stress tolerance. Significant differences in expression were observed between two grape varieties, Vitis amurensis (Cold-hardy) and V. vinifera (Cold-sentitive), under abiotic and hormone treatments. Both VvMyb14 and VaMyb14 demonstrated responsiveness to cold, drought and high salt treatment, but VaMyb14 exhibited a quicker and more pronounced response. To investigate further, we overexpressed VaMyb14 in A. thalina and found that VaMyb14 OE plants showed significantly enhanced cold and drought tolerance compared to wild-type plants. Additionally, the transgenic lines exhib...
Source: Gene - September 15, 2023 Category: Genetics & Stem Cells Authors: Linchuan Fang Zeming Wang Lingye Su Linzhong Gong Haiping Xin Source Type: research
Origin of CMS-PET1 cytotype in cultivated sunflower: a new insight
In this study, the open reading frame, orfH522, associated with the CMS-PET1 phenotype, was revealed for the first time in the 3'-flanking region of the mitochondrial atpA gene in wild H. annuus. An analysis of whole genome data from 1089 accessions showed that the frequency of occurrence of CMS-orfH522 in wild H. annuus populations is 3.58%, while in wild H. petiolaris populations, it is 1.26%. In general, the analysis demonstrated that PET1-CMS is a natural cytotype of H. annuus, and the appearance of the CMS phenotype in cultivated sunflowers is associated with the loss of stabilizing nuclear genes of fertility restorer...
Source: Gene - September 15, 2023 Category: Genetics & Stem Cells Authors: Kirill Azarin Alexander Usatov Alexandra Kasianova Maksim Makarenko Vera Gavrilova Source Type: research
Guidelines for Evaluating the Comparability of Down-Sampled GWAS Summary Statistics
Behav Genet. 2023 Sep 15. doi: 10.1007/s10519-023-10152-z. Online ahead of print.ABSTRACTProprietary genetic datasets are valuable for boosting the statistical power of genome-wide association studies (GWASs), but their use can restrict investigators from publicly sharing the resulting summary statistics. Although researchers can resort to sharing down-sampled versions that exclude restricted data, down-sampling reduces power and might change the genetic etiology of the phenotype being studied. These problems are further complicated when using multivariate GWAS methods, such as genomic structural equation modeling (Genomic...
Source: Behavior Genetics - September 15, 2023 Category: Genetics & Stem Cells Authors: Camille M Williams Holly Poore Peter T Tanksley Hyeokmoon Kweon Natasia S Courchesne-Krak Diego Londono-Correa Travis T Mallard Peter Barr Philipp D Koellinger Irwin D Waldman Sandra Sanchez-Roige K Paige Harden Abraham A Palmer Danielle M Dick Richard Ka Source Type: research
RNA Interference and Neuromuscular Diseases: A Focus on Hereditary Transthyretin Amyloidosis
Curr Gene Ther. 2023 Sep 13. doi: 10.2174/1566523223666230913110011. Online ahead of print.ABSTRACTNeuromuscular diseases are severe disorders affecting the peripheral nervous system, usually driving to death in a limited time. Many new drugs, through RNA-interference technology, are revolutionizing the prognosis and quality of life for these patients. Nevertheless, given the increased life expectancy, some new issues and phenotypes are expected to be revealed. In the transthyretin-mediated hereditary amyloidosis (ATTR-v, "v" for "variant"), the RNA interference was demonstrated to effectively reduce the hepatic synthesis ...
Source: Current Gene Therapy - September 15, 2023 Category: Genetics & Stem Cells Authors: Marco Ceccanti Maurizio Inghilleri Source Type: research
