Abstract:
:Many studies have demonstrated the clinical utility and importance of epilepsy gene panel testing to confirm the specific aetiology of disease, enable appropriate therapeutic interventions, and inform accurate family counselling. Previously, SCN9A gene variants, in particular a c.1921A>T p.(Asn641Tyr) substitution, have been identified as a likely autosomal dominant cause of febrile seizures/febrile seizures plus and other monogenic seizure phenotypes indistinguishable from those associated with SCN1A, leading to inclusion of SCN9A on epilepsy gene testing panels. Here we present serendipitous findings of genetic studies that identify the SCN9A c.1921A>T p.(Asn641Tyr) variant at high frequency in the Amish community in the absence of such seizure phenotypes. Together with findings in UK Biobank these data refute an association of SCN9A with epilepsy, which has important clinical diagnostic implications.
journal_name
PLoS Genetjournal_title
PLoS geneticsauthors
Fasham J,Leslie JS,Harrison JW,Deline J,Williams KB,Kuhl A,Scott Schwoerer J,Cross HE,Crosby AH,Baple ELdoi
10.1371/journal.pgen.1009161subject
Has Abstractpub_date
2020-11-20 00:00:00pages
e1009161issue
11eissn
1553-7390issn
1553-7404pii
PGENETICS-D-20-00960journal_volume
16pub_type
杂志文章相关文献
PLoS Genetics文献大全abstract::During nervous system development, neuronal cell bodies and their axodendritic projections are precisely positioned through transiently expressed patterning cues. We show here that two neuronally expressed, secreted immunoglobulin (Ig) domain-containing proteins, ZIG-5 and ZIG-8, have no detectable role during embryon...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1002819
更新日期:2012-01-01 00:00:00
abstract::Apolipoprotein B-containing lipoproteins (B-lps) are essential for the transport of hydrophobic dietary and endogenous lipids through the circulation in vertebrates. Zebrafish embryos produce large numbers of B-lps in the yolk syncytial layer (YSL) to move lipids from yolk to growing tissues. Disruptions in B-lp produ...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008941
更新日期:2020-08-06 00:00:00
abstract::Cytokinesis terminates mitosis, resulting in separation of the two sister cells. Septins, a conserved family of GTP-binding cytoskeletal proteins, are an absolute requirement for cytokinesis in budding yeast. We demonstrate that septin-dependence of mammalian cytokinesis differs greatly between cell types: genetic los...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1004558
更新日期:2014-08-14 00:00:00
abstract::Copy number expansions such as amplifications and duplications contribute to human phenotypic variation, promote molecular diversification during evolution, and drive the initiation and/or progression of various cancers. The mechanisms underlying these copy number changes are still incompletely understood, however. We...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1003192
更新日期:2013-01-01 00:00:00
abstract::[This corrects the article DOI: 10.1371/journal.pgen.1006788.]. ...
journal_title:PLoS genetics
pub_type: 已发布勘误
doi:10.1371/journal.pgen.1006893
更新日期:2017-07-12 00:00:00
abstract::Magnetosomes of magnetotactic bacteria contain well-ordered nanocrystals for magnetic navigation and have recently emerged as the most sophisticated model system to study the formation of membrane bounded organelles in prokaryotes. Magnetosome biosynthesis is thought to begin with the formation of a dedicated compartm...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006101
更新日期:2016-06-10 00:00:00
abstract::Seam cells in Caenorhabditis elegans provide a paradigm for the stem cell mode of division, with the ability to both self-renew and produce daughters that differentiate. The transcription factor RNT-1 and its DNA binding partner BRO-1 (homologues of the mammalian cancer-associated stem cell regulators RUNX and CBFβ, r...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1002200
更新日期:2011-08-01 00:00:00
abstract::Efficient adaptation to iron starvation is an essential virulence determinant of the most common human mold pathogen, Aspergillus fumigatus. Here, we demonstrate that the cytosolic monothiol glutaredoxin GrxD plays an essential role in iron sensing in this fungus. Our studies revealed that (i) GrxD is essential for gr...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008379
更新日期:2019-09-16 00:00:00
abstract::Proteins secreted by pathogens during host colonization largely determine the outcome of pathogen-host interactions and are commonly called 'effectors'. In fungal plant pathogens, coordinated transcriptional up-regulation of effector genes is a key feature of pathogenesis and effectors are often encoded in genomic reg...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006401
更新日期:2016-11-17 00:00:00
abstract::In mammalian meiosis, homologous chromosome synapsis is coupled with recombination. As in most eukaryotes, mammalian meiocytes have checkpoints that monitor the fidelity of these processes. We report that the mouse ortholog (Trip13) of pachytene checkpoint 2 (PCH2), an essential component of the synapsis checkpoint in...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.0030130
更新日期:2007-08-01 00:00:00
abstract::Evolutionary forces that shape regulatory networks remain poorly understood. In mammals, the Rb pathway is a classic example of species-specific gene regulation, as a germline mutation in one Rb allele promotes retinoblastoma in humans, but not in mice. Here we show that p53 transactivates the Retinoblastoma-like 2 (R...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1002731
更新日期:2012-06-01 00:00:00
abstract::The sterol regulatory element-binding protein (SREBP) family member SREBP1 is a critical transcriptional regulator of cholesterol and fatty acid metabolism and has been implicated in insulin resistance, diabetes, and other diet-related diseases. We globally identified the promoters occupied by SREBP1 and its binding p...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1000133
更新日期:2008-07-25 00:00:00
abstract::Blood vessels are vital to sustain life in all vertebrates. While it is known that mural cells (pericytes and smooth muscle cells) regulate vascular integrity, the contribution of other cell types to vascular stabilization has been largely unexplored. Using zebrafish, we identified sclerotome-derived perivascular fibr...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008800
更新日期:2020-10-26 00:00:00
abstract::Microbial populations founded by a single clone and propagated under resource limitation can become polymorphic. We sought to elucidate genetic mechanisms whereby a polymorphism evolved in Escherichia coli under glucose limitation and persisted because of cross-feeding among multiple adaptive clones. Apart from a 29 k...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1000713
更新日期:2009-11-01 00:00:00
abstract::Type 2 diabetes (T2D) is more prevalent in African Americans than in Europeans. However, little is known about the genetic risk in African Americans despite the recent identification of more than 70 T2D loci primarily by genome-wide association studies (GWAS) in individuals of European ancestry. In order to investigat...
journal_title:PLoS genetics
pub_type: 杂志文章,meta分析
doi:10.1371/journal.pgen.1004517
更新日期:2014-08-07 00:00:00
abstract::During meiotic prophase, a structure called the synaptonemal complex (SC) assembles at the interface between aligned pairs of homologous chromosomes, and crossover recombination events occur between their DNA molecules. Here we investigate the inter-relationships between these two hallmark features of the meiotic prog...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006670
更新日期:2017-03-24 00:00:00
abstract::Molybdenum (Mo) is an essential micronutrient for plants, serving as a cofactor for enzymes involved in nitrate assimilation, sulfite detoxification, abscisic acid biosynthesis, and purine degradation. Here we show that natural variation in shoot Mo content across 92 Arabidopsis thaliana accessions is controlled by va...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1000004
更新日期:2008-02-29 00:00:00
abstract::Significant interest has emerged in mapping genetic susceptibility for complex traits through whole-genome association studies. These studies rely on the extent of association, i.e., linkage disequilibrium (LD), between single nucleotide polymorphisms (SNPs) across the human genome. LD describes the nonrandom associat...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.0020142
更新日期:2006-09-08 00:00:00
abstract::Among the rare colonizers of heavy-metal rich toxic soils, Arabidopsis halleri is a compelling model extremophile, physiologically distinct from its sister species A. lyrata, and A. thaliana. Naturally selected metal hypertolerance and extraordinarily high leaf metal accumulation in A. halleri both require Heavy Metal...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1003707
更新日期:2013-01-01 00:00:00
abstract::Promoters are structurally and functionally diverse gene regulatory regions. The presence or absence of sequence motifs and the spacing between the motifs defines the properties of promoters. Recent alternative promoter usage analyses in Drosophila melanogaster revealed that transposable elements significantly contrib...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006249
更新日期:2016-08-12 00:00:00
abstract::The neonatal intestine is a very complex and dynamic organ that must rapidly adapt and remodel in response to a barrage of environmental stimuli during the first few postnatal weeks. Recent studies demonstrate that the zinc finger transcriptional repressor Blimp1/Prdm1 plays an essential role governing postnatal repro...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1005375
更新日期:2015-07-09 00:00:00
abstract::In nature, microbes often need to "decide" which of several available nutrients to utilize, a choice that depends on a cell's inherent preference and external nutrient levels. While natural environments can have mixtures of different nutrients, phenotypic variation in microbes' decisions of which nutrient to utilize i...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1006766
更新日期:2017-05-24 00:00:00
abstract::Genetic models of ribosome dysfunction show selective organ failure, highlighting a gap in our understanding of cell-type specific responses to translation insufficiency. Translation defects underlie a growing list of inherited and acquired cancer-predisposition syndromes referred to as ribosomopathies. We sought to i...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1005288
更新日期:2015-06-09 00:00:00
abstract::We previously reported that TR2 and TR4 orphan nuclear receptors bind to direct repeat (DR) elements in the ε- and γ-globin promoters, and act as molecular anchors for the recruitment of epigenetic corepressors of the multifaceted DRED complex, thereby leading to ε- and γ-globin transcriptional repression during defin...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1004339
更新日期:2014-05-08 00:00:00
abstract::Domesticated Asian rice (Oryza sativa) is one of the oldest domesticated crop species in the world, having fed more people than any other plant in human history. We report the patterns of DNA sequence variation in rice and its wild ancestor, O. rufipogon, across 111 randomly chosen gene fragments, and use these to inf...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.0030163
更新日期:2007-09-01 00:00:00
abstract::Genotoxic agents that cause double-strand breaks (DSBs) often generate damage at the break termini. Processing enzymes, including nucleases and polymerases, must remove damaged bases and/or add new bases before completion of repair. Artemis is a nuclease involved in mammalian nonhomologous end joining (NHEJ), but in S...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1000060
更新日期:2008-04-25 00:00:00
abstract::The appropriate development of conidia and appressoria is critical in the disease cycle of many fungal pathogens, including Magnaporthe oryzae. A total of eight genes (MoHOX1 to MoHOX8) encoding putative homeobox transcription factors (TFs) were identified from the M. oryzae genome. Knockout mutants for each MoHOX gen...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1000757
更新日期:2009-12-01 00:00:00
abstract::The genetic architecture of the small and isolated Greenlandic population is advantageous for identification of novel genetic variants associated with cardio-metabolic traits. We aimed to identify genetic loci associated with body mass index (BMI), to expand the knowledge of the genetic and biological mechanisms under...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1008544
更新日期:2020-01-24 00:00:00
abstract::Anaplasma phagocytophilum is an emerging pathogen that causes human granulocytic anaplasmosis. Infection with this zoonotic pathogen affects cell function in both vertebrate host and the tick vector, Ixodes scapularis. Global tissue-specific response and apoptosis signaling pathways were characterized in I. scapularis...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1005120
更新日期:2015-03-27 00:00:00
abstract::At least 25 inherited disorders in humans result from microsatellite repeat expansion. Dramatic variation in repeat instability occurs at different disease loci and between different tissues; however, cis-elements and trans-factors regulating the instability process remain undefined. Genomic fragments from the human s...
journal_title:PLoS genetics
pub_type: 杂志文章
doi:10.1371/journal.pgen.1000257
更新日期:2008-11-01 00:00:00