Παρασκευή 1 Νοεμβρίου 2019


A missense mutation in <i>SNRPE</i> linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing
by Tao Chen, Bin Zhang, Thomas Ziegenhals, Archana B. Prusty, Sebastian Fröhler, Clemens Grimm, Yuhui Hu, Bernhard Schaefke, Liang Fang, Min Zhang, Nadine Kraemer, Angela M. Kaindl, Utz Fischer, Wei Chen Malfunction of pre-mRNA processing factors are linked to several human diseases including cancer and neurodegeneration. Here we report the identification of a de novo heterozygous missense mutation in the SNRPE gene (c.65T>C (p.Phe22Ser)) in a patient with non-syndromal primary (congenital)...
PLoS Genetics: New Articles
Thu Oct 31, 2019 21:15
Mck1 kinase is a new player in the DNA damage checkpoint pathway
by Nerea Sanvisens Delgado, David P. Toczyski
PLoS Genetics: New Articles
Thu Oct 31, 2019 21:15
MR-pheWAS with stratification and interaction: Searching for the causal effects of smoking heaviness identified an effect on facial aging
by Louise A. C. Millard, Marcus R. Munafò, Kate Tilling, Robyn E. Wootton, George Davey Smith Mendelian randomization (MR) is an established approach to evaluate the effect of an exposure on an outcome. The gene-by-environment (GxE) study design can be used to determine whether the genetic instrument affects the outcome through pathways other than via the exposure of interest (horizontal pleiotropy). MR phenome-wide association studies (MR-pheWAS) search for the effects of an exposure, and can...
PLoS Genetics: New Articles
Thu Oct 31, 2019 21:15
Diet–microbiome–disease: Investigating diet’s influence on infectious disease resistance through alteration of the gut microbiome
by Erica V. Harris, Jacobus C. de Roode, Nicole M. Gerardo Abiotic and biotic factors can affect host resistance to parasites. Host diet and host gut microbiomes are two increasingly recognized factors influencing disease resistance. In particular, recent studies demonstrate that (1) particular diets can reduce parasitism; (2) diets can alter the gut microbiome; and (3) the gut microbiome can decrease parasitism. These three separate relationships suggest the existence of indirect links through...
PLOS Pathogens: New Articles
Thu Oct 31, 2019 19:42
Astrovirus replication in human intestinal enteroids reveals multi-cellular tropism and an intricate host innate immune landscape
by Abimbola O. Kolawole, Carmen Mirabelli, David R. Hill, Sophia A. Svoboda, Andrew B. Janowski, Karla D. Passalacqua, Benancio N. Rodriguez, Michael K. Dame, Pamela Freiden, Ryan P. Berger, Diem-lan Vu, Myra Hosmillo, Mary X. D. O’Riordan, Stacey Schultz-Cherry, Susana Guix, Jason R. Spence, David Wang, Christiane E. Wobus Human astroviruses (HAstV) are understudied positive-strand RNA viruses that cause gastroenteritis mostly in children and the elderly. Three clades of astroviruses, classic,...
PLOS Pathogens: New Articles
Thu Oct 31, 2019 19:42
Twenty years of West Nile virus spread and evolution in the Americas visualized by Nextstrain
by James Hadfield, Anderson F. Brito, Daniele M. Swetnam, Chantal B. F. Vogels, Ryan E. Tokarz, Kristian G. Andersen, Ryan C. Smith, Trevor Bedford, Nathan D. Grubaugh It has been 20 years since West Nile virus first emerged in the Americas, and since then, little progress has been made to control outbreaks caused by this virus. After its first detection in New York in 1999, West Nile virus quickly spread across the continent, causing an epidemic of human disease and massive bird die-offs. Now...
PLOS Pathogens: New Articles
Thu Oct 31, 2019 19:42
A comparative epigenome analysis of gammaherpesviruses suggests cis-acting sequence features as critical mediators of rapid polycomb recruitment
by Thomas Günther, Jacqueline Fröhlich, Christina Herrde, Shinji Ohno, Lia Burkhardt, Heiko Adler, Adam Grundhoff Latent Kaposi sarcoma-associated herpesvirus (KSHV) genomes rapidly acquire distinct patterns of the activating histone modification H3K4-me3 as well as repressive H3K27-me3 marks, a modification linked to transcriptional silencing by polycomb repressive complexes (PRC). Interestingly, PRCs have recently been reported to restrict viral gene expression in a number of other viral systems,...
PLOS Pathogens: New Articles
Thu Oct 31, 2019 19:42
Genes, Vol. 10, Pages 876: Meta-Analysis of Grainyhead-Like Dependent Transcriptional Networks: A Roadmap for Identifying Novel Conserved Genetic Pathways
Genes, Vol. 10, Pages 876: Meta-Analysis of Grainyhead-Like Dependent Transcriptional Networks: A Roadmap for Identifying Novel Conserved Genetic Pathways Genes doi: 10.3390/genes10110876 Authors: Mathiyalagan Miles Anderson Wilanowski Grills McDonald Keightley Charzynska Dabrowski Dworkin : The Drosophila grainyhead (grh) and vertebrate Grainyhead-like (Grhl) transcription factors are among the most critical genes for epithelial development, maintenance...
Genes
Thu Oct 31, 2019 02:00
Pathogens, Vol. 8, Pages 213: The Current Status of Cytomegalovirus (CMV) Prevalence in the MENA Region: A Systematic Review
Pathogens, Vol. 8, Pages 213: The Current Status of Cytomegalovirus (CMV) Prevalence in the MENA Region: A Systematic Review Pathogens doi: 10.3390/pathogens8040213 Authors: Al Mana Yassine Younes Al-Mohannadi Al-Sadeq Alhababi Nasser Nasrallah Human cytomegalovirus (CMV) is a highly prevalent herpesvirus worldwide. According to the Centers for Disease Control and Prevention (CDC) and the World Health Organization (WHO), CMV infects people of all ages, and...
Pathogens
Thu Oct 31, 2019 02:00
Genes, Vol. 10, Pages 875: The Role of Plasticity and Adaptation in the Incipient Speciation of a Fire Salamander Population
Genes, Vol. 10, Pages 875: The Role of Plasticity and Adaptation in the Incipient Speciation of a Fire Salamander Population Genes doi: 10.3390/genes10110875 Authors: Joana Sabino-Pinto Daniel J. Goedbloed Eugenia Sanchez Till Czypionka Arne W. Nolte Sebastian Steinfartz Phenotypic plasticity and local adaptation via genetic change are two major mechanisms of response to dynamic environmental conditions. These mechanisms are not mutually exclusive, since genetic change...
Genes
Thu Oct 31, 2019 02:00
Genes, Vol. 10, Pages 871: Testosterone Degradative Pathway of Novosphingobium tardaugens
Genes, Vol. 10, Pages 871: Testosterone Degradative Pathway of Novosphingobium tardaugens Genes doi: 10.3390/genes10110871 Authors: Juan Ibero Beatriz Galán Eduardo Díaz José L. García In this work, we have shown that Novosphingobium tardaugens NBRC 16725 (strain ARI-1), a bacterial strain that was isolated due to its capacity to mineralize the estrogenic endocrine compound 17&beta;-estradiol, is also able to mineralize testosterone, the androgenic endocrine compound. Using...
Genes
Thu Oct 31, 2019 02:00
Genes, Vol. 10, Pages 873: Multi-Tissue Transcriptomes Yield Information on High-Altitude Adaptation and Sex-Determination in Scutiger cf. sikimmensis
Genes, Vol. 10, Pages 873: Multi-Tissue Transcriptomes Yield Information on High-Altitude Adaptation and Sex-Determination in Scutiger cf. sikimmensis Genes doi: 10.3390/genes10110873 Authors: Sylvia Hofmann Heiner Kuhl Chitra Bahadur Baniya Matthias Stöck The Himalayas are one of earth&rsquo;s hotspots of biodiversity. Among its many cryptic and undiscovered organisms, including vertebrates, this complex high-mountain ecosystem is expected to harbour many species with adaptations...
Genes
Thu Oct 31, 2019 02:00
Genes, Vol. 10, Pages 872: Genome Maintenance Proteins Modulate Autoimmunity Mediated Primed Adaptation by the Escherichia coli Type I-E CRISPR-Cas System
Genes, Vol. 10, Pages 872: Genome Maintenance Proteins Modulate Autoimmunity Mediated Primed Adaptation by the Escherichia coli Type I-E CRISPR-Cas System Genes doi: 10.3390/genes10110872 Authors: Elena Kurilovich Anna Shiriaeva Anastasia Metlitskaya Natalia Morozova Ivana Ivancic-Bace Konstantin Severinov Ekaterina Savitskaya Bacteria and archaea use CRISPR-Cas adaptive immunity systems to interfere with viruses, plasmids, and other mobile genetic elements. During...
Genes
Thu Oct 31, 2019 02:00
Genes, Vol. 10, Pages 874: Semidwarf Gene d60 Affected by Ubiquitous Gamete Lethal Gene gal Produced Rare Double Dwarf with d30 via Recombination Breaking Repulsion-Phase Linkage on Rice Chromosome 2
Genes, Vol. 10, Pages 874: Semidwarf Gene d60 Affected by Ubiquitous Gamete Lethal Gene gal Produced Rare Double Dwarf with d30 via Recombination Breaking Repulsion-Phase Linkage on Rice Chromosome 2 Genes doi: 10.3390/genes10110874 Authors: Motonori Tomita Jun Tanaka The genotype of gal and d60 were investigated in 33 rice varieties chosen from representative semidwarf and dwarf rice varieties. These were crossed with three tester lines, the d60Gal line (genotype d60d60GalGal), the...
Genes
Thu Oct 31, 2019 02:00
Epigenetic inheritance and intergenerational effects in mollusks
Publication date: Available online 31 October 2019Source: GeneAuthor(s): Manon Fallet, Emilien Luquet, Patrice David, Céline CosseauAbstractRecent insights in evolutionary biology have shed light on epigenetic variation that interacts with genetic variation to convey heritable information. An important characteristic of epigenetic changes is that they can be produced in response to environmental cues and passed on to later generations, potentially facilitating later genetic adaptation. While our...
Gene
Thu Oct 31, 2019 12:53
Pathogens, Vol. 8, Pages 212: Resistome Profiles, Plasmid Typing, and Whole-Genome Phylogenetic Tree Analyses of BlaNDM-9 and Mcr-1 Co-Harboring Escherichia coli ST617 from a Patient without a History of Farm Exposure in Korea
Pathogens, Vol. 8, Pages 212: Resistome Profiles, Plasmid Typing, and Whole-Genome Phylogenetic Tree Analyses of BlaNDM-9 and Mcr-1 Co-Harboring Escherichia coli ST617 from a Patient without a History of Farm Exposure in Korea Pathogens doi: 10.3390/pathogens8040212 Authors: Le Phuong Nguyen Naina Adren Pinto Thao Nguyen Vu Hung Mai An HT Pham Hyunsook Lee Young Lag Cho Jung-Hyun Byun Roshan D’Souza Dongeun Yong Recently, a blaNDM-9 and mcr-1 co-harboring E....
Pathogens
Thu Oct 31, 2019 02:00
Genes, Vol. 10, Pages 870: Helicases FANCJ, RTEL1 and BLM Act on Guanine Quadruplex DNA in Vivo
Genes, Vol. 10, Pages 870: Helicases FANCJ, RTEL1 and BLM Act on Guanine Quadruplex DNA in Vivo Genes doi: 10.3390/genes10110870 Authors: Peter Lansdorp Niek van Wietmarschen Guanine quadruplex (G4) structures are among the most stable secondary DNA structures that can form in vitro, and evidence for their existence in vivo has been steadily accumulating. Originally described mainly for their deleterious effects on genome stability, more recent research has focused on (potential)...
Genes
Thu Oct 31, 2019 02:00

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