Abstract:
:Systemic lupus erythematosus (SLE) is a highly prevalent human autoimmune diseases that causes progressive glomerulonephritis, arthritis and an erythematoid rash. Mice deficient in deoxyribonuclease I (Dnase1) develop an SLE-like syndrome. Here we describe two patients with a heterozygous nonsense mutation in exon 2 of DNASE1, decreased DNASE1 activity and an extremely high immunoglobulin G titer against nucleosomal antigens. These data are consistent with the hypothesis that a direct connection exists between low activity of DNASE1 and progression of human SLE.
journal_name
Nat Genetjournal_title
Nature geneticsauthors
Yasutomo K,Horiuchi T,Kagami S,Tsukamoto H,Hashimura C,Urushihara M,Kuroda Ydoi
10.1038/91070keywords:
subject
Has Abstractpub_date
2001-08-01 00:00:00pages
313-4issue
4eissn
1061-4036issn
1546-1718pii
91070journal_volume
28pub_type
杂志文章相关文献
NATURE GENETICS文献大全abstract::Manipulation or non-physiological embryo culture environments can lead to defective fetal programming in livestock. Our demonstration of reduced fetal methylation and expression of ovine IGF2R suggests pre-implantation embryo procedures may be vulnerable to epigenetic alterations in imprinted genes. This highlights th...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/84769
更新日期:2001-02-01 00:00:00
abstract::Somatic rearrangements contribute to the mutagenized landscape of cancer genomes. Here, we systematically interrogated rearrangements in 560 breast cancers by using a piecewise constant fitting approach. We identified 33 hotspots of large (>100 kb) tandem duplications, a mutational signature associated with homologous...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3771
更新日期:2017-03-01 00:00:00
abstract::A polymorphic CAG repeat was identified in the human alpha 1A voltage-dependent calcium channel subunit. To test the hypothesis that expansion of this CAG repeat could be the cause of an inherited progressive ataxia, we genotyped a large number of unrelated controls and ataxia patients. Eight unrelated patients with l...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0197-62
更新日期:1997-01-01 00:00:00
abstract::Protein tyrosine phosphorylation plays a key role in regulating eukaryotic cell proliferation and differentiation. Genetic analysis in invertebrates has been invaluable for dissecting the signalling events downstream of receptor tyrosine kinases (RTKs). We have used this approach in mammals to analyse the interactions...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0796-309
更新日期:1996-07-01 00:00:00
abstract::Identifying the genes involved in polygenic traits has been difficult. In the 1950s and 1960s, laboratory selection experiments for extreme geotaxic behavior in fruit flies established for the first time that a complex behavioral trait has a genetic basis. But the specific genes responsible for the behavior have never...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng893
更新日期:2002-08-01 00:00:00
abstract::G-quadruplex (G4) structural motifs have been linked to transcription, replication and genome instability and are implicated in cancer and other diseases. However, it is crucial to demonstrate the bona fide formation of G4 structures within an endogenous chromatin context. Herein we address this through the developmen...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3662
更新日期:2016-10-01 00:00:00
abstract::Low-level ectopic expression of the Runt transcription factor blocks activation of the Drosophila melanogaster segmentation gene engrailed (en) in odd-numbered parasegments and is associated with a lethal phenotype. Here we show, by using a genetic screen for maternal factors that contribute in a dose-dependent fashio...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng942
更新日期:2002-09-01 00:00:00
abstract::In a study of human diversity at a highly variable locus, we have mapped the internal structures of tandem-repetitive alleles from different populations at the minisatellite MS205 (D16S309). The results give an unusually detailed view of the different allelic structures represented on modern human chromosomes, and of ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0696-154
更新日期:1996-06-01 00:00:00
abstract::Genetic studies of complex traits have mainly identified associations with noncoding variants. To further determine the contribution of regulatory variation, we combined whole-genome and transcriptome data for 624 individuals from Sardinia to identify common and rare variants that influence gene expression and splicin...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3840
更新日期:2017-05-01 00:00:00
abstract::The capacity of microbial pathogens to alter their host tropism leading to epidemics in distinct host species populations is a global public and veterinary health concern. To investigate the molecular basis of a bacterial host-switching event in a tractable host species, we traced the evolutionary trajectory of the co...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3219
更新日期:2015-04-01 00:00:00
abstract::Cretinism is marked by irreversible mental and growth retardation. We describe here an entirely new case of cretinism showing combined pituitary hormone deficiencies of thyrotropin, growth hormone and prolactin that appears to be caused by homozygosity for a nonsense mutation in the gene for the pituitary specific tra...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0492-56
更新日期:1992-04-01 00:00:00
abstract::Kallmann syndrome is a genetic disorder characterized by a defect in olfactory system development, which appears to be due to an abnormality in the migration of olfactory axons and gonadotropin releasing hormone (Gn-RH) producing neurons. The X-linked Kallmann syndrome gene shares significant similarities with molecul...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0593-19
更新日期:1993-05-01 00:00:00
abstract::The world's great wines are produced from a relatively small number of classic European cultivars of Vitis vinifera L Most are thought to be centuries old and their origins have long been the subject of speculation. Among the most prominent of these cultivars is Cabernet Sauvignon, described as "the world's most renow...
journal_title:Nature genetics
pub_type: 历史文章,杂志文章
doi:10.1038/ng0597-84
更新日期:1997-05-01 00:00:00
abstract::The genetic basis of most conditions characterized by congenital contractures is largely unknown. Here we show that mutations in the embryonic myosin heavy chain (MYH3) gene cause Freeman-Sheldon syndrome (FSS), one of the most severe multiple congenital contracture (that is, arthrogryposis) syndromes, and nearly one-...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1775
更新日期:2006-05-01 00:00:00
abstract::Cystic echinococcosis (hydatid disease), caused by the tapeworm E. granulosus, is responsible for considerable human morbidity and mortality. This cosmopolitan disease is difficult to diagnose, treat and control. We present a draft genomic sequence for the worm comprising 151.6 Mb encoding 11,325 genes. Comparisons wi...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.2757
更新日期:2013-10-01 00:00:00
abstract::Through whole-genome sequencing of 2,230 Icelanders, we detected a rare nonsynonymous SNP (minor allele frequency = 0.55%) in the C3 gene encoding a p.Lys155Gln substitution in complement factor 3, which, following imputation into a set of Icelandic cases with age-related macular degeneration (AMD) and controls, assoc...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.2740
更新日期:2013-11-01 00:00:00
abstract::There is increasing evidence that epigenetic information can be inherited across generations in mammals, despite extensive reprogramming both in the gametes and in the early developing embryo. One corollary to this is that disrupting the establishment of epigenetic state in the gametes of a parent, as a result of hete...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng2031
更新日期:2007-05-01 00:00:00
abstract::Myotonic dystrophy (DM) results from the amplification of an unstable CTG repeat in the 3' untranslated region of a transcript encoding a putative serine/threonine kinase. We have analysed the amplification of the repeat and the steady state levels of the DM kinase (DMK) mRNA in tissues and cell lines from normal and ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0793-233
更新日期:1993-07-01 00:00:00
abstract::We carried out a genome-wide association study of lung cancer (3,259 cases and 4,159 controls), followed by replication in 2,899 cases and 5,573 controls. Two uncorrelated disease markers at 5p15.33, rs402710 and rs2736100 were detected by the genome-wide data (P = 2 x 10(-7) and P = 4 x 10(-6)) and replicated by the ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.254
更新日期:2008-12-01 00:00:00
abstract::Hypertension, diabetes and hyperlipidemia are risk factors for life-threatening complications such as end-stage renal disease, coronary artery disease and stroke. Why some patients develop complications is unclear, but only susceptibility genes may be involved. To test this notion, we studied crosses involving the faw...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0196-44
更新日期:1996-01-01 00:00:00
abstract::Cold induces expression of a number of genes that encode proteins that enhance tolerance to freezing temperatures in plants. A cis-acting element responsive to cold and drought, the C-repeat/dehydration-responsive element (C/DRE), was identified in the Arabidopsis thaliana stress-inducible genes RD29A and COR15a and f...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1298
更新日期:2004-02-01 00:00:00
abstract::Pediatric midline high-grade astrocytomas (mHGAs) are incurable with few treatment targets identified. Most tumors harbor mutations encoding p.Lys27Met in histone H3 variants. In 40 treatment-naive mHGAs, 39 analyzed by whole-exome sequencing, we find additional somatic mutations specific to tumor location. Gain-of-fu...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.2950
更新日期:2014-05-01 00:00:00
abstract::Loci discovered by genome-wide association studies predominantly map outside protein-coding genes. The interpretation of the functional consequences of non-coding variants can be greatly enhanced by catalogs of regulatory genomic regions in cell lines and primary tissues. However, robust and readily applicable methods...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-018-0322-6
更新日期:2019-02-01 00:00:00
abstract::Stress tolerance of the heart requires high-fidelity metabolic sensing by ATP-sensitive potassium (K(ATP)) channels that adjust membrane potential-dependent functions to match cellular energetic demand. Scanning of genomic DNA from individuals with heart failure and rhythm disturbances due to idiopathic dilated cardio...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1329
更新日期:2004-04-01 00:00:00
abstract::An ever-larger proportion of the liability to common and complex disease can be obtained by progressively larger studies. However, for most diseases, the sample sizes required to gain usable predictions will be out of reach of sequencing technologies for the foreseeable future. Array-based genotyping genome-wide assoc...
journal_title:Nature genetics
pub_type: 社论
doi:10.1038/ng.2605
更新日期:2013-04-01 00:00:00
abstract::The progressive familial intrahepatic cholestases (PFIC) are a group of inherited disorders with severe cholestatic liver disease from early infancy. A subgroup characterized by normal serum cholesterol and gamma-glutamyltranspeptidase (gammaGT) levels is genetically heterogeneous with loci on chromosomes 2q (PFIC2) a...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/3034
更新日期:1998-11-01 00:00:00
abstract::Little is known about the genetic regulation of medulloblastoma dissemination, but metastatic medulloblastoma is highly associated with poor outcome. We obtained expression profiles of 23 primary medulloblastomas clinically designated as either metastatic (M+) or non-metastatic (M0) and identified 85 genes whose expre...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng731
更新日期:2001-10-01 00:00:00
abstract::Uterine leiomyomata (fibroids) are common and clinically important tumors, but little is known about their etiology and pathogenesis. We previously mapped a gene that predisposes to multiple fibroids, cutaneous leiomyomata and renal cell carcinoma to chromosome 1q42.3-q43 (refs 4-6). Here we show, through a combinatio...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng849
更新日期:2002-04-01 00:00:00
abstract::The CRISPR-Cas9 system enables global screens of gene function with high sensitivity and specificity, but off-target effects have been reported for CRISPR guide RNAs targeting genes that are amplified at high copy number. A new study describes a computational approach to correct for this copy number effect, increasing...
journal_title:Nature genetics
pub_type: 评论,杂志文章
doi:10.1038/ng.3994
更新日期:2017-11-29 00:00:00
abstract::Emery-Dreifuss muscular dystrophy (EDMD) is characterized by early contractures of elbows and Achilles tendons, slowly progressive muscle wasting and weakness, and a cardiomyopathy with conduction blocks which is life-threatening. Two modes of inheritance exist, X-linked (OMIM 310300) and autosomal dominant (EDMD-AD; ...
journal_title:Nature genetics
pub_type: 临床试验,杂志文章
doi:10.1038/6799
更新日期:1999-03-01 00:00:00