当前位置： SCI文献检索 > NATURE GENETICS期刊下所有文献 > Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

Abstract：

:Aicardi-Goutières syndrome (AGS) is an autosomal recessive neurological disorder, the clinical and immunological features of which parallel those of congenital viral infection. Here we define the composition of the human ribonuclease H2 enzyme complex and show that AGS can result from mutations in the genes encoding any one of its three subunits. Our findings demonstrate a role for ribonuclease H in human neurological disease and suggest an unanticipated relationship between ribonuclease H2 and the antiviral immune response that warrants further investigation.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Crow YJ,Leitch A,Hayward BE,Garner A,Parmar R,Griffith E,Ali M,Semple C,Aicardi J,Babul-Hirji R,Baumann C,Baxter P,Bertini E,Chandler KE,Chitayat D,Cau D,Déry C,Fazzi E,Goizet C,King MD,Klepper J,Lacombe D,Lan

doi

10.1038/ng1842

subject

Has Abstract

pub_date

2006-08-01 00:00:00

pages

910-6

issue

8

eissn

1061-4036

issn

1546-1718

pii

ng1842

journal_volume

38

pub_type

杂志文章

相关文献

NATURE GENETICS文献大全
  • MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination.

    abstract：:We have investigated the pathogenetic mechanism of the mitochondrial tRNA(Lys) gene mutation (position 8344) associated with MERRF encephalomyopathy in several mitochondrial DNA (mtDNA)-less cell transformants carrying the mutation and in control cells. A decrease of 50-60% in the specific tRNA(Lys) aminoacylation cap...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0595-47

    authors： Enriquez JA,Chomyn A,Attardi G

    更新日期：1995-05-01 00:00:00

  • Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly.

    abstract：:The tissue-specific organization of collagen molecules into tridimensional macroaggregates determines the physiomechanical properties of most connective tissues, but the factors and mechanisms controlling this process are unknown. It has been postulated that quantitatively minor types V and XI collagen regulate the gr...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0195-31

    authors： Andrikopoulos K,Liu X,Keene DR,Jaenisch R,Ramirez F

    更新日期：1995-01-01 00:00:00

  • Ocular retardation mouse caused by Chx10 homeobox null allele: impaired retinal progenitor proliferation and bipolar cell differentiation.

    abstract：:Ocular retardation (or) is a murine eye mutation causing microphthalmia, a thin hypocellular retina and optic nerve aplasia. Here we show that mice carrying the OrJ allele have a premature stop codon in the homeobox of the Chx10 gene, a gene expressed at high levels in uncommitted retinal progenitor cells and mature b...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0496-376

    authors： Burmeister M,Novak J,Liang MY,Basu S,Ploder L,Hawes NL,Vidgen D,Hoover F,Goldman D,Kalnins VI,Roderick TH,Taylor BA,Hankin MH,McInnes RR

    更新日期：1996-04-01 00:00:00

  • Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.

    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

    authors： Bonne G,Di Barletta MR,Varnous S,Bécane HM,Hammouda EH,Merlini L,Muntoni F,Greenberg CR,Gary F,Urtizberea JA,Duboc D,Fardeau M,Toniolo D,Schwartz K

    更新日期：1999-03-01 00:00:00

  • Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis.

    abstract：:Endometriosis is a common gynecological disease associated with pelvic pain and subfertility. We conducted a genome-wide association study (GWAS) in 3,194 individuals with surgically confirmed endometriosis (cases) and 7,060 controls from Australia and the UK. Polygenic predictive modeling showed significantly increas...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.731

    authors： Painter JN,Anderson CA,Nyholt DR,Macgregor S,Lin J,Lee SH,Lambert A,Zhao ZZ,Roseman F,Guo Q,Gordon SD,Wallace L,Henders AK,Visscher PM,Kraft P,Martin NG,Morris AP,Treloar SA,Kennedy SH,Missmer SA,Montgomery GW,Z

    更新日期：2011-01-01 00:00:00

  • Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.

    abstract：:Chronic pancreatitis (CP) is a continuing or relapsing inflammatory disease of the pancreas. In approximately one-third of all cases, no aetiological factor can be found, and these patients are classified as having idiopathic disease. Pathophysiologically, autodigestion and inflammation may be caused by either increas...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/76088

    authors： Witt H,Luck W,Hennies HC,Classen M,Kage A,Lass U,Landt O,Becker M

    更新日期：2000-06-01 00:00:00

  • Genome-wide association study identifies a common variant associated with risk of endometrial cancer.

    abstract：:Endometrial cancer is the most common malignancy of the female genital tract in developed countries. To identify genetic variants associated with endometrial cancer risk, we performed a genome-wide association study involving 1,265 individuals with endometrial cancer (cases) from Australia and the UK and 5,190 control...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.812

    authors： Spurdle AB,Thompson DJ,Ahmed S,Ferguson K,Healey CS,O'Mara T,Walker LC,Montgomery SB,Dermitzakis ET,Australian National Endometrial Cancer Study Group.,Fahey P,Montgomery GW,Webb PM,Fasching PA,Beckmann MW,Ekici AB,Hein A

    更新日期：2011-05-01 00:00:00

  • A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy.

    abstract：:Desmin-related myopathies (DRM) are inherited neuromuscular disorders characterized by adult onset and delayed accumulation of aggregates of desmin, a protein belonging to the type III intermediate filament family, in the sarcoplasma of skeletal and cardiac muscles. In this paper, we have mapped the locus for DRM in a...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/1765

    authors： Vicart P,Caron A,Guicheney P,Li Z,Prévost MC,Faure A,Chateau D,Chapon F,Tomé F,Dupret JM,Paulin D,Fardeau M

    更新日期：1998-09-01 00:00:00

  • Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency.

    abstract：:Congenital disorders of glycosylation (CDG) comprise a rapidly growing group of inherited disorders in which glycosylation of glycoproteins is defective due to mutations in genes required for the assembly of lipid-linked oligosaccharides, their transfer to nascent glycoproteins (CDG-I) or the processing of protein-bou...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0501-73

    authors： Lübke T,Marquardt T,Etzioni A,Hartmann E,von Figura K,Körner C

    更新日期：2001-05-01 00:00:00

  • Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight.

    abstract：:To identify genetic variants associated with birth weight, we meta-analyzed six genome-wide association (GWA) studies (n = 10,623 Europeans from pregnancy/birth cohorts) and followed up two lead signals in 13 replication studies (n = 27,591). rs900400 near LEKR1 and CCNL1 (P = 2 x 10(-35)) and rs9883204 in ADCY5 (P = ...

    journal_title：Nature genetics

    pub_type： 杂志文章,meta分析

    doi：10.1038/ng.567

    authors： Freathy RM,Mook-Kanamori DO,Sovio U,Prokopenko I,Timpson NJ,Berry DJ,Warrington NM,Widen E,Hottenga JJ,Kaakinen M,Lange LA,Bradfield JP,Kerkhof M,Marsh JA,Mägi R,Chen CM,Lyon HN,Kirin M,Adair LS,Aulchenko YS,Benne

    更新日期：2010-05-01 00:00:00

  • Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci.

    abstract：:We report full-length draft de novo genome assemblies for 16 widely used inbred mouse strains and find extensive strain-specific haplotype variation. We identify and characterize 2,567 regions on the current mouse reference genome exhibiting the greatest sequence diversity. These regions are enriched for genes involve...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/s41588-018-0223-8

    authors： Lilue J,Doran AG,Fiddes IT,Abrudan M,Armstrong J,Bennett R,Chow W,Collins J,Collins S,Czechanski A,Danecek P,Diekhans M,Dolle DD,Dunn M,Durbin R,Earl D,Ferguson-Smith A,Flicek P,Flint J,Frankish A,Fu B,Gerstein

    更新日期：2018-11-01 00:00:00

  • Human cystic fibrosis transmembrane conductance regulator directed to respiratory epithelial cells of transgenic mice.

    abstract：:Human cystic fibrosis transmembrane conductance regulator (CFTR) was expressed in transgenic mice under the control of transcriptional elements derived from the human surfactant protein C (SP-C) gene. The hCFTR mRNA was expressed in lungs and testes: in the lung, we found hCFTR mRNA in bronchiolar and alveolar epithel...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0992-13

    authors： Whitsett JA,Dey CR,Stripp BR,Wikenheiser KA,Clark JC,Wert SE,Gregory RJ,Smith AE,Cohn JA,Wilson JM

    更新日期：1992-09-01 00:00:00

  • Mutations associated with familial melanoma impair p16INK4 function.

    abstract：:Cell division is controlled by a series of positive and negative regulators which act at sequential points throughout the cell cycle. Disturbance of these checks could contribute to cancer by allowing excessive cell proliferation. The point in G1 at which cells irrevocably commit to DNA synthesis is controlled by prot...

    journal_title：Nature genetics

    pub_type： 信件

    doi：10.1038/ng0595-114

    authors： Ranade K,Hussussian CJ,Sikorski RS,Varmus HE,Goldstein AM,Tucker MA,Serrano M,Hannon GJ,Beach D,Dracopoli NC

    更新日期：1995-05-01 00:00:00

  • G-quadruplex structures mark human regulatory chromatin.

    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

    authors： Hänsel-Hertsch R,Beraldi D,Lensing SV,Marsico G,Zyner K,Parry A,Di Antonio M,Pike J,Kimura H,Narita M,Tannahill D,Balasubramanian S

    更新日期：2016-10-01 00:00:00

  • Deep learning sequence-based ab initio prediction of variant effects on expression and disease risk.

    abstract：:Key challenges for human genetics, precision medicine and evolutionary biology include deciphering the regulatory code of gene expression and understanding the transcriptional effects of genome variation. However, this is extremely difficult because of the enormous scale of the noncoding mutation space. We developed a...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/s41588-018-0160-6

    authors： Zhou J,Theesfeld CL,Yao K,Chen KM,Wong AK,Troyanskaya OG

    更新日期：2018-08-01 00:00:00

  • Polycomb repressive complex PRC1 spatially constrains the mouse embryonic stem cell genome.

    abstract：:The Polycomb repressive complexes PRC1 and PRC2 maintain embryonic stem cell (ESC) pluripotency by silencing lineage-specifying developmental regulator genes. Emerging evidence suggests that Polycomb complexes act through controlling spatial genome organization. We show that PRC1 functions as a master regulator of mou...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3393

    authors： Schoenfelder S,Sugar R,Dimond A,Javierre BM,Armstrong H,Mifsud B,Dimitrova E,Matheson L,Tavares-Cadete F,Furlan-Magaril M,Segonds-Pichon A,Jurkowski W,Wingett SW,Tabbada K,Andrews S,Herman B,LeProust E,Osborne CS,Kose

    更新日期：2015-10-01 00:00:00

  • Adenovirus mediated expression of therapeutic plasma levels of human factor IX in mice.

    abstract：:Gene therapy strategies designed to combat haemophilia B, caused by defects in clotting factor IX, have so far concentrated on ex vivo approaches. We have now evaluated adenoviral vector-mediated expression of human factor IX in vivo. Injection of the vector Av1H9B, which encodes human factor IX cDNA, into the tail ve...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1293-397

    authors： Smith TA,Mehaffey MG,Kayda DB,Saunders JM,Yei S,Trapnell BC,McClelland A,Kaleko M

    更新日期：1993-12-01 00:00:00

  • Massive genomic variation and strong selection in Arabidopsis thaliana lines from Sweden.

    abstract：:Despite advances in sequencing, the goal of obtaining a comprehensive view of genetic variation in populations is still far from reached. We sequenced 180 lines of A. thaliana from Sweden to obtain as complete a picture as possible of variation in a single region. Whereas simple polymorphisms in the unique portion of ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2678

    authors： Long Q,Rabanal FA,Meng D,Huber CD,Farlow A,Platzer A,Zhang Q,Vilhjálmsson BJ,Korte A,Nizhynska V,Voronin V,Korte P,Sedman L,Mandáková T,Lysak MA,Seren Ü,Hellmann I,Nordborg M

    更新日期：2013-08-01 00:00:00

  • RAF1 mutations in childhood-onset dilated cardiomyopathy.

    abstract：:Dilated cardiomyopathy (DCM) is a highly heterogeneous trait with sarcomeric gene mutations predominating. The cause of a substantial percentage of DCMs remains unknown, and no gene-specific therapy is available. On the basis of resequencing of 513 DCM cases and 1,150 matched controls from various cohorts of distinct ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2963

    authors： Dhandapany PS,Razzaque MA,Muthusami U,Kunnoth S,Edwards JJ,Mulero-Navarro S,Riess I,Pardo S,Sheng J,Rani DS,Rani B,Govindaraj P,Flex E,Yokota T,Furutani M,Nishizawa T,Nakanishi T,Robbins J,Limongelli G,Hajjar RJ,L

    更新日期：2014-06-01 00:00:00

  • Lineage-dependent gene expression programs influence the immune landscape of colorectal cancer.

    abstract：:Immunotherapy for metastatic colorectal cancer is effective only for mismatch repair-deficient tumors with high microsatellite instability that demonstrate immune infiltration, suggesting that tumor cells can determine their immune microenvironment. To understand this cross-talk, we analyzed the transcriptome of 91,10...

    journal_title：Nature genetics

    pub_type： 杂志文章,多中心研究

    doi：10.1038/s41588-020-0636-z

    authors： Lee HO,Hong Y,Etlioglu HE,Cho YB,Pomella V,Van den Bosch B,Vanhecke J,Verbandt S,Hong H,Min JW,Kim N,Eum HH,Qian J,Boeckx B,Lambrechts D,Tsantoulis P,De Hertogh G,Chung W,Lee T,An M,Shin HT,Joung JG,Jung MH,

    更新日期：2020-06-01 00:00:00

  • MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.

    abstract：:MASA syndrome is a recessive X-linked disorder characterized by mental retardation, adducted thumbs, shuffling gait, aphasia and, in some cases, hydrocephalus. Since it has been shown that X-linked hydrocephalus can be caused by mutations in L1CAM, a neuronal cell adhesion molecule, we performed an L1CAM mutation anal...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0794-408

    authors： Vits L,Van Camp G,Coucke P,Fransen E,De Boulle K,Reyniers E,Korn B,Poustka A,Wilson G,Schrander-Stumpel C

    更新日期：1994-07-01 00:00:00

  • Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.

    abstract：:X-linked congenital stationary night blindness (CSNB) is a recessive non-progressive retinal disorder characterized by night blindness, decreased visual acuity, myopia, nystagmus and strabismus. Two distinct clinical entities of X-linked CSNB have been proposed. Patients with complete CSNB show moderate to severe myop...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/947

    authors： Bech-Hansen NT,Naylor MJ,Maybaum TA,Pearce WG,Koop B,Fishman GA,Mets M,Musarella MA,Boycott KM

    更新日期：1998-07-01 00:00:00

  • A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family.

    abstract：:A candidate gene for Branchio-Oto-Renal (BOR) syndrome was identified at chromosome 8q13.3 by positional cloning and shown to underlie the disease. This gene is a human homologue of the Drosophila eyes absent gene (eya), and was therefore called EYA1. A highly conserved 271-amino acid C-terminal region was also found ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0297-157

    authors： Abdelhak S,Kalatzis V,Heilig R,Compain S,Samson D,Vincent C,Weil D,Cruaud C,Sahly I,Leibovici M,Bitner-Glindzicz M,Francis M,Lacombe D,Vigneron J,Charachon R,Boven K,Bedbeder P,Van Regemorter N,Weissenbach J,Petit C

    更新日期：1997-02-01 00:00:00

  • Meta-analysis of gene-level tests for rare variant association.

    abstract：:The majority of reported complex disease associations for common genetic variants have been identified through meta-analysis, a powerful approach that enables the use of large sample sizes while protecting against common artifacts due to population structure and repeated small-sample analyses sharing individual-level ...

    journal_title：Nature genetics

    pub_type： 杂志文章,meta分析

    doi：10.1038/ng.2852

    authors： Liu DJ,Peloso GM,Zhan X,Holmen OL,Zawistowski M,Feng S,Nikpay M,Auer PL,Goel A,Zhang H,Peters U,Farrall M,Orho-Melander M,Kooperberg C,McPherson R,Watkins H,Willer CJ,Hveem K,Melander O,Kathiresan S,Abecasis GR

    更新日期：2014-02-01 00:00:00

  • Nuclear reprogramming of cloned embryos and its implications for therapeutic cloning.

    abstract：:Therapeutic cloning, whereby somatic cell nuclear transfer (SCNT) is used to generate patient-specific embryonic stem cells (ESCs) from blastocysts cloned by nuclear transfer (ntESCs), holds great promise for the treatment of many human diseases. ntESCs have been derived in mice and cattle, but thus far there are no c...

    journal_title：Nature genetics

    pub_type： 杂志文章,评审

    doi：10.1038/ng1973

    authors： Yang X,Smith SL,Tian XC,Lewin HA,Renard JP,Wakayama T

    更新日期：2007-03-01 00:00:00

  • Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin.

    abstract：:Friedreich's ataxia is due to loss of function mutations in the gene encoding frataxin (FRDA). Frataxin is a protein of unknown function. In situ hybridization analyses revealed that mouse frataxin expression correlates well with the main site of neurodegeneration, but the expression pattern is broader than expected f...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0897-345

    authors： Koutnikova H,Campuzano V,Foury F,Dollé P,Cazzalini O,Koenig M

    更新日期：1997-08-01 00:00:00

  • Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.

    abstract：:Eosinophils are pleiotropic multifunctional leukocytes involved in initiation and propagation of inflammatory responses and thus have important roles in the pathogenesis of inflammatory diseases. Here we describe a genome-wide association scan for sequence variants affecting eosinophil counts in blood of 9,392 Iceland...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.323

    authors： Gudbjartsson DF,Bjornsdottir US,Halapi E,Helgadottir A,Sulem P,Jonsdottir GM,Thorleifsson G,Helgadottir H,Steinthorsdottir V,Stefansson H,Williams C,Hui J,Beilby J,Warrington NM,James A,Palmer LJ,Koppelman GH,Heinzmann

    更新日期：2009-03-01 00:00:00

  • iASPP oncoprotein is a key inhibitor of p53 conserved from worm to human.

    abstract：:We have previously shown that ASPP1 and ASPP2 are specific activators of p53; one mechanism by which wild-type p53 is tolerated in human breast carcinomas is through loss of ASPP activity. We have further shown that 53BP2, which corresponds to a C-terminal fragment of ASPP2, acts as a dominant negative inhibitor of p5...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1070

    authors： Bergamaschi D,Samuels Y,O'Neil NJ,Trigiante G,Crook T,Hsieh JK,O'Connor DJ,Zhong S,Campargue I,Tomlinson ML,Kuwabara PE,Lu X

    更新日期：2003-02-01 00:00:00

  • Opening up a large can of worms.

    abstract：: ...

    journal_title：Nature genetics

    pub_type： 评论,杂志文章

    doi：10.1038/s41588-018-0317-3

    authors： Sternberg PW

    更新日期：2019-01-01 00:00:00

  • Loss of Cdk4 expression causes insulin-deficient diabetes and Cdk4 activation results in beta-islet cell hyperplasia.

    abstract：:To ascertain the role of cyclin-dependent kinase 4 (Cdk4) in vivo, we have targeted the mouse Cdk4 locus by homologous recombination to generate two strains of mice, one that lacks Cdk4 expression and one that expresses a Cdk4 molecule with an activating mutation. Embryonic fibroblasts proliferate normally in the abse...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/8751

    authors： Rane SG,Dubus P,Mettus RV,Galbreath EJ,Boden G,Reddy EP,Barbacid M

    更新日期：1999-05-01 00:00:00