Research

This list contains the 50 most recently published research articles, including advance online publication articles that have not yet been published in a journal issue.

Showing: 1–25 of 50

AOP
  1. Germline hypomorphic CARD11 mutations in severe atopic disease AOP

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    Erwin Gelfand, Andrew Snow, Joshua Milner and colleagues identify heterozygous CARD11 mutations associated with severe atopic disease in eight individuals from four families. They further show that the mutant CARD11 proteins exhibit both loss-of-function and dominant-interfering activity and that the cellular defects in patient T cells can be partially rescued by supplementing with glutamine.

  2. Identification of sequence variants influencing immunoglobulin levels AOP

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    Ingileif Jonsdottir, Björn Nilsson, Kari Stefansson and colleagues perform a genome-wide association study for immunoglobulin levels in Icelandic and Swedish cohorts. They find 38 new variants associated with IgA, IgG, IgM or composite immunoglobulin traits and identify candidate genes underlying the regulation of immunoglobulin levels.

  3. Truncating mutations in RBM12 are associated with psychosis AOP

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    Kari Stefansson and colleagues identify a nonsense mutation in RBM12 segregating with psychosis in an extended Icelandic pedigree and an independent frameshift mutation in RBM12 segregating with psychosis in a Finnish family. They further show that carriers of the Icelandic mutation who are unaffected by psychosis exhibit a psychiatric disorder and cognitive test battery profile resembling that of patients with schizophrenia.

  4. Variants in the fetal genome near FLT1 are associated with risk of preeclampsia AOP

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    Ralph McGinnis, Valgerdur Steinthorsdottir, Linda Morgan and colleagues perform a genome-wide association study in the offspring of preeclampsia pregnancies and identify variants in the fetal genome near FLT1 that are associated with risk of preeclampsia. FLT1 is known to encode an isoform of placental origin implicated in the pathology of preeclampsia, providing biological support for the association of this locus with preeclampsia risk.

  5. Identification of liver-specific enhancer–promoter activity in the 3′ untranslated region of the wild-type AAV2 genome AOP

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    Ian Alexander and colleagues characterize a liver-specific enhancer–promoter element that is found in the genome of wild-type adeno-associated virus type 2 (AAV2), from which gene transfer vectors have been derived. They suggest that these sequences could provide a possible link between AAV integration events in the liver and gene dysregulation and pathogenesis.

  6. Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor AOP

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    Clare Turnbull and colleagues report discovery of 19 new susceptibility loci for testicular germ cell tumor (TGCT) and provide evidence for a network of physical interactions between TGCT risk variants and candidate causal genes. Their findings implicate widespread disruption of developmental transcriptional regulators in TGCT susceptibility, consistent with failed primordial germ cell differentiation as an initiating step in oncogenesis.

  7. Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes AOP

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    Christopher Amos and colleagues perform genome-wide association analysis for lung cancer using cohorts genotyped on the OncoArray and combing these with existing data. They identify 18 loci, 10 of which are new, finding heterogeneity across the different lung cancer subtypes, and explore candidate genes through eQTL analysis in lung tissue.

  8. DNMT and HDAC inhibitors induce cryptic transcription start sites encoded in long terminal repeats AOP

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    Christoph Plass and colleagues investigate the transcriptomic and epigenomic changes induced by treatment with inhibitors of DNMT and HDAC in cancer cell lines. They observe large numbers of treatment-induced non-annotated TSSs (TINATs) encoded in long-terminal repeats that are normally repressed in most cell types.

  9. Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor AOP

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    Katherine Nathanson, Peter Kanetsky and colleagues present a meta-analysis of five genome-wide association studies of testicular germ cell tumor (TGCT). They identify eight new susceptibility loci and new independent signals at two previously reported loci, providing further clues to the etiology of TGCT.

  10. Genome-wide association analysis of insomnia complaints identifies risk genes and genetic overlap with psychiatric and metabolic traits AOP

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    Danielle Posthuma and colleagues report a genome-wide association analysis for insomnia complaints in 113,006 individuals from the UK Biobank that identifies associations with variants near seven genes. They find evidence for sex-specific genetic architectures underlying genetic risk for insomnia and genetic correlations between insomnia complaints and psychiatric and metabolic traits.

  11. Between-region genetic divergence reflects the mode and tempo of tumor evolution AOP

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    Christina Curtis and colleagues simulate spatial tumor growth under different evolutionary models and compare their results to multiregion sequencing data. They find that it is possible to distinguish tumors driven by strong positive selection from those evolving neutrally or under weak selection and infer different evolutionary modes within and between tumor types.

  12. Genomic analyses in cotton identify signatures of selection and loci associated with fiber quality and yield traits AOP

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    Tianzhen Zhang, Xiongming Du and colleagues report whole-genome resequencing of 318 upland cotton (Gossypium hirsutum) accessions. They carried out genome-wide association analyses to identify loci associated with fiber quality, lint yield and resistance to Verticillium wilt, and identify two ethylene-pathway genes associated with the increased lint yield observed in improved cultivars.

  13. High-quality de novo assembly of the apple genome and methylome dynamics of early fruit development Open AOP

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    Etienne Bucher and colleagues use a combination of short- and long-read sequencing, along with optical mapping technologies, to produce the high-quality de novo assembly of the apple genome. They identify a new repetitive retrotransposon sequence and analyze DNA methylation data in relation to important agronomic traits.

  14. Genome-wide characterization of mammalian promoters with distal enhancer functions AOP

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    Salvatore Spicuglia and colleagues use a high-throughput reporter assay to identify a set of mammalian promoters, termed Epromoters, that display enhancer activity and have distinct genomic and epigenomic features. Through CRISPR–Cas9 gene editing experiments, they show that Epromoters are involved in long-range gene regulation in cis.

  15. Hyperactivation of HUSH complex function by Charcot–Marie–Tooth disease mutation in MORC2 AOP

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    Paul Lehner and colleagues identify an essential role for MORC2 in HUSH complex–mediated epigenetic silencing. They show that loss of MORC2 causes chromatin decompaction at HUSH-target loci and that a MORC2 mutation that causes Charcot–Marie–Tooth disease results in hyperactivation of HUSH-mediated repression in neuronal cells.

  16. Polygenic burdens on cell-specific pathways underlie the risk of rheumatoid arthritis AOP

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    Yuta Kochi and colleagues perform expression quantitative trait loci (eQTL) analysis on five subsets of immune cells individually sorted from blood from 105 individuals. They develop an integrated analysis pipeline of expression and epigenomic data along with gene association to identify cell-specific candidate causal genes and apply this to rheumatoid arthritis.

  17. Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation AOP

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    Nazneen Rahman, Geert Kops and colleagues report the identification of biallelic loss-of-function mutations in TRIP13 in six individuals with Wilms tumor who presented with features of mosaic variegated aneuploidy. They show that TRIP13-mutant cells show spindle assembly checkpoint defects and suggest that mechanisms leading to aneuploidy may contribute directly to increased cancer risk.

  18. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci AOP

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    Chiea Chuen Khor, Tin Aung, Francesca Pasutto, Janey Wiggs and colleagues report a global genome-wide association study of exfoliation syndrome and a fine-mapping analysis of a previously identified disease-associated locus, LOXL1. They identify a rare protective variant in LOXL1 exclusive to the Japanese population and five new common variant susceptibility loci.

  19. Corrigendum: A study of allelic diversity underlying flowering-time adaptation in maize landraces

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  20. Corrigendum: Acquired CYP19A1 amplification is an early specific mechanism of aromatase inhibitor resistance in ERα metastatic breast cancer

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  21. Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

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  22. Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

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  23. Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development

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