当前位置： SCI文献检索 > NATURE GENETICS期刊下所有文献 > Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.

Abstract：

:Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked recessive disorder characterized by slowly progressing contractures, wasting of skeletal muscle and cardiomyopathy. Heart block is a frequent cause of death. The disease gene has been mapped to distal Xq28. Among many genes in this region, we selected eight transcripts expressed at high levels in skeletal muscle, heart and/or brain as the best candidates for the disease. We now report, in all five patients studied, unique mutations in one of the genes, STA: these mutations result in the loss of all or part of the protein. The EDMD gene encodes a novel serine-rich protein termed emerin, which contains a 20 amino acid hydrophobic domain at the C terminus, similar to that described for many membrane proteins of the secretory pathway involved in vesicular transport.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Bione S,Maestrini E,Rivella S,Mancini M,Regis S,Romeo G,Toniolo D

doi

10.1038/ng1294-323

subject

Has Abstract

pub_date

1994-12-01 00:00:00

pages

323-7

issue

4

eissn

1061-4036

issn

1546-1718

journal_volume

8

pub_type

杂志文章

相关文献

NATURE GENETICS文献大全
  • Genomic correlates of response to immune checkpoint blockade in microsatellite-stable solid tumors.

    abstract：:Tumor mutational burden correlates with response to immune checkpoint blockade in multiple solid tumors, although in microsatellite-stable tumors this association is of uncertain clinical utility. Here we uniformly analyzed whole-exome sequencing (WES) of 249 tumors and matched normal tissue from patients with clinica...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/s41588-018-0200-2

    authors： Miao D,Margolis CA,Vokes NI,Liu D,Taylor-Weiner A,Wankowicz SM,Adeegbe D,Keliher D,Schilling B,Tracy A,Manos M,Chau NG,Hanna GJ,Polak P,Rodig SJ,Signoretti S,Sholl LM,Engelman JA,Getz G,Jänne PA,Haddad RI,Chouei

    更新日期：2018-09-01 00:00:00

  • HLA DR-DQ associations with cervical carcinoma show papillomavirus-type specificity.

    abstract：:Cervical carcinoma is now known to be associated with human papillomaviruses (HPV), but the evidence for a link with specific HLA loci is controversial. The role of genetic variation at the HLA class II loci and among HPV types in cervical carcinoma was investigated by PCR DNA amplification and oligonucleotide probe t...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0294-157

    authors： Apple RJ,Erlich HA,Klitz W,Manos MM,Becker TM,Wheeler CM

    更新日期：1994-02-01 00:00:00

  • Emergence of scarlet fever Streptococcus pyogenes emm12 clones in Hong Kong is associated with toxin acquisition and multidrug resistance.

    abstract：:A scarlet fever outbreak began in mainland China and Hong Kong in 2011 (refs. 1-6). Macrolide- and tetracycline-resistant Streptococcus pyogenes emm12 isolates represent the majority of clinical cases. Recently, we identified two mobile genetic elements that were closely associated with emm12 outbreak isolates: the in...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3147

    authors： Davies MR,Holden MT,Coupland P,Chen JH,Venturini C,Barnett TC,Zakour NL,Tse H,Dougan G,Yuen KY,Walker MJ

    更新日期：2015-01-01 00:00:00

  • Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency.

    abstract：:All molybdoenzymes other than nitrogenase require molybdopterin as a metal-binding cofactor. Several genes necessary for the synthesis of the molybdenum cofactor (MoCo) have been characterized in bacteria and plants. The proteins encoded by the Escherichia coli genes moaA and moaC catalyse the first steps in MoCo synt...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/1706

    authors： Reiss J,Cohen N,Dorche C,Mandel H,Mendel RR,Stallmeyer B,Zabot MT,Dierks T

    更新日期：1998-09-01 00:00:00

  • Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.

    abstract：:A genome-wide association screen for primary biliary cirrhosis risk alleles was performed in an Italian cohort. The results from the Italian cohort replicated IL12A and IL12RB associations, and a combined meta-analysis using a Canadian dataset identified newly associated loci at SPIB (P = 7.9 x 10(-11), odds ratio (OR...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.627

    authors： Liu X,Invernizzi P,Lu Y,Kosoy R,Lu Y,Bianchi I,Podda M,Xu C,Xie G,Macciardi F,Selmi C,Lupoli S,Shigeta R,Ransom M,Lleo A,Lee AT,Mason AL,Myers RP,Peltekian KM,Ghent CN,Bernuzzi F,Zuin M,Rosina F,Borghesio E

    更新日期：2010-08-01 00:00:00

  • Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.

    abstract：:Hereditary rippling muscle disease (RMD) is an autosomal dominant human disorder characterized by mechanically triggered contractions of skeletal muscle. Genome-wide linkage analysis has identified an RMD locus on chromosome 3p25. We found missense mutations in positional candidate CAV3 (encoding caveolin 3; ref. 5) i...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/90050

    authors： Betz RC,Schoser BG,Kasper D,Ricker K,Ramírez A,Stein V,Torbergsen T,Lee YA,Nöthen MM,Wienker TF,Malin JP,Propping P,Reis A,Mortier W,Jentsch TJ,Vorgerd M,Kubisch C

    更新日期：2001-07-01 00:00:00

  • Tracing the ancestry of modern bread wheats.

    abstract：:For more than 10,000 years, the selection of plant and animal traits that are better tailored for human use has shaped the development of civilizations. During this period, bread wheat (Triticum aestivum) emerged as one of the world's most important crops. We use exome sequencing of a worldwide panel of almost 500 gen...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/s41588-019-0393-z

    authors： Pont C,Leroy T,Seidel M,Tondelli A,Duchemin W,Armisen D,Lang D,Bustos-Korts D,Goué N,Balfourier F,Molnár-Láng M,Lage J,Kilian B,Özkan H,Waite D,Dyer S,Letellier T,Alaux M,Wheat and Barley Legacy for Breeding Improveme

    更新日期：2019-05-01 00:00:00

  • Shared genetic effects on chromatin and gene expression indicate a role for enhancer priming in immune response.

    abstract：:Regulatory variants are often context specific, modulating gene expression in a subset of possible cellular states. Although these genetic effects can play important roles in disease, the molecular mechanisms underlying context specificity are poorly understood. Here, we identified shared quantitative trait loci (QTLs...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/s41588-018-0046-7

    authors： Alasoo K,Rodrigues J,Mukhopadhyay S,Knights AJ,Mann AL,Kundu K,HIPSCI Consortium.,Hale C,Dougan G,Gaffney DJ

    更新日期：2018-03-01 00:00:00

  • Meristems take their cues from organ primordia.

    abstract：:Stem cell regulation is critical to the development of all multicellular organisms; in plants, stem cell niches reside in meristems. Two newly identified plant genes establish a novel signaling feedback from the incipient leaf primordia back to the meristem that is required to regulate stem cell proliferation. ...

    journal_title：Nature genetics

    pub_type： 评论,杂志文章

    doi：10.1038/ng.3601

    authors： Strable J,Scanlon MJ

    更新日期：2016-06-28 00:00:00

  • Exome sequencing of geographically diverse barley landraces and wild relatives gives insights into environmental adaptation.

    abstract：:After domestication, during a process of widespread range extension, barley adapted to a broad spectrum of agricultural environments. To explore how the barley genome responded to the environmental challenges it encountered, we sequenced the exomes of a collection of 267 georeferenced landraces and wild accessions. A ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3612

    authors： Russell J,Mascher M,Dawson IK,Kyriakidis S,Calixto C,Freund F,Bayer M,Milne I,Marshall-Griffiths T,Heinen S,Hofstad A,Sharma R,Himmelbach A,Knauft M,van Zonneveld M,Brown JW,Schmid K,Kilian B,Muehlbauer GJ,Stein N,

    更新日期：2016-09-01 00:00:00

  • Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.

    abstract：:Chromosome region 1q21.1 contains extensive and complex low-copy repeats, and copy number variants (CNVs) in this region have recently been reported in association with congenital heart defects, developmental delay, schizophrenia and related psychoses. We describe 21 probands with the 1q21.1 microdeletion and 15 proba...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.279

    authors： Brunetti-Pierri N,Berg JS,Scaglia F,Belmont J,Bacino CA,Sahoo T,Lalani SR,Graham B,Lee B,Shinawi M,Shen J,Kang SH,Pursley A,Lotze T,Kennedy G,Lansky-Shafer S,Weaver C,Roeder ER,Grebe TA,Arnold GL,Hutchison T,Rei

    更新日期：2008-12-01 00:00:00

  • Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma.

    abstract：:Glaucoma is the leading cause of irreversible blindness globally 1 . Despite its gravity, the disease is frequently undiagnosed in the community 2 . Raised intraocular pressure (IOP) is the most important risk factor for primary open-angle glaucoma (POAG)3,4. Here we present a meta-analysis of 139,555 European partici...

    journal_title：Nature genetics

    pub_type： 杂志文章,meta分析

    doi：10.1038/s41588-018-0126-8

    authors： Khawaja AP,Cooke Bailey JN,Wareham NJ,Scott RA,Simcoe M,Igo RP Jr,Song YE,Wojciechowski R,Cheng CY,Khaw PT,Pasquale LR,Haines JL,Foster PJ,Wiggs JL,Hammond CJ,Hysi PG,UK Biobank Eye and Vision Consortium.,NEIGHBORHOOD C

    更新日期：2018-06-01 00:00:00

  • Rescue of embryonic lethality in Mdm4-null mice by loss of Trp53 suggests a nonoverlapping pathway with MDM2 to regulate p53.

    abstract：:The p53 protein can inhibit cell cycling or induce apoptosis, and is thus a critical regulator of tumorigenesis. This protein is negatively regulated by a physical interaction with MDM2, an E3 ubiquitin ligase. This interaction is critical for cell viability; loss of Mdm2 causes cell death in vitro and in vivo in a p5...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng714

    authors： Parant J,Chavez-Reyes A,Little NA,Yan W,Reinke V,Jochemsen AG,Lozano G

    更新日期：2001-09-01 00:00:00

  • A QTL for flowering time in Arabidopsis reveals a novel allele of CRY2.

    abstract：:Variation of flowering time is found in the natural populations of many plant species. The underlying genetic variation, mostly of a quantitative nature, is presumed to reflect adaptations to different environments contributing to reproductive success. Analysis of natural variation for flowering time in Arabidopsis th...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng767

    authors： El-Din El-Assal S,Alonso-Blanco C,Peeters AJ,Raz V,Koornneef M

    更新日期：2001-12-01 00:00:00

  • A bisexually reproducing all-triploid vertebrate.

    abstract：:Green toads are common in the Palaearctic region, where they have differentiated into several taxa. The toads exist with variable amounts of ploidy, similar to other anuran species or reptiles. In vertebrate biology, the very rare occurrence of triploidy is coupled with infertility or unisexuality, or requires the coe...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng839

    authors： Stöck M,Lamatsch DK,Steinlein C,Epplen JT,Grosse WR,Hock R,Klapperstück T,Lampert KP,Scheer U,Schmid M,Schartl M

    更新日期：2002-03-01 00:00:00

  • The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.

    abstract：:Autosomal recessive polycystic kidney disease (ARPKD) is characterized by dilation of collecting ducts and by biliary dysgenesis and is an important cause of renal- and liver-related morbidity and mortality. Genetic analysis of a rat with recessive polycystic kidney disease revealed an orthologous relationship between...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng833

    authors： Ward CJ,Hogan MC,Rossetti S,Walker D,Sneddon T,Wang X,Kubly V,Cunningham JM,Bacallao R,Ishibashi M,Milliner DS,Torres VE,Harris PC

    更新日期：2002-03-01 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

  • APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.

    abstract：:We report duplication of the APP locus on chromosome 21 in five families with autosomal dominant early-onset Alzheimer disease (ADEOAD) and cerebral amyloid angiopathy (CAA). Among these families, the duplicated segments had a minimal size ranging from 0.58 to 6.37 Mb. Brains from individuals with APP duplication show...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1718

    authors： Rovelet-Lecrux A,Hannequin D,Raux G,Le Meur N,Laquerrière A,Vital A,Dumanchin C,Feuillette S,Brice A,Vercelletto M,Dubas F,Frebourg T,Campion D

    更新日期：2006-01-01 00:00:00

  • Efficient phasing and imputation of low-coverage sequencing data using large reference panels.

    abstract：:Low-coverage whole-genome sequencing followed by imputation has been proposed as a cost-effective genotyping approach for disease and population genetics studies. However, its competitiveness against SNP arrays is undermined because current imputation methods are computationally expensive and unable to leverage large ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/s41588-020-00756-0

    authors： Rubinacci S,Ribeiro DM,Hofmeister RJ,Delaneau O

    更新日期：2021-01-01 00:00:00

  • Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA).

    abstract：:Hereditary dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurologic disorder characterized by variable combinations of myoclonus, epilepsy, cerebellar ataxia, choreoathetosis and dementia. By specifically searching published brain cDNA sequences for the presence of CAG repeats we identified uns...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0194-9

    authors： Koide R,Ikeuchi T,Onodera O,Tanaka H,Igarashi S,Endo K,Takahashi H,Kondo R,Ishikawa A,Hayashi T

    更新日期：1994-01-01 00:00:00

  • New HLA-DPB1 alleles generated by interallelic gene conversion detected by analysis of sperm.

    abstract：:The rate at which allelic diversity at the HLA loci evolves has been the subject of considerable controversy. The patchwork pattern of sequence polymorphism within the second exon of the HLA class II loci, particularly in the DPB1 locus, may have been generated by segmental exchange (gene conversion). We have analysed...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0895-407

    authors： Zangenberg G,Huang MM,Arnheim N,Erlich H

    更新日期：1995-08-01 00:00:00

  • Pyruvate kinase deficiency in mice protects against malaria.

    abstract：:The global health impact of malaria is enormous, with an estimated 300-500 million clinical cases and 1 million annual deaths. In humans, initial susceptibility to infection with Plasmodium species, disease severity and ultimate outcome of malaria (self-healing or lethal) are under complex genetic control. Alleles ass...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1260

    authors： Min-Oo G,Fortin A,Tam MF,Nantel A,Stevenson MM,Gros P

    更新日期：2003-12-01 00:00:00

  • Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP.

    abstract：:Dentinogenesis imperfecta 1 (DGI1, MIM 125490) is an autosomal dominant dental disease characterized by abnormal dentin production and mineralization. The DGI1 locus was recently refined to a 2-Mb interval on 4q21 (ref. 1). Here we study three Chinese families carrying DGI1. We find that the affected individuals of tw...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/84848

    authors： Xiao S,Yu C,Chou X,Yuan W,Wang Y,Bu L,Fu G,Qian M,Yang J,Shi Y,Hu L,Han B,Wang Z,Huang W,Liu J,Chen Z,Zhao G,Kong X

    更新日期：2001-02-01 00:00:00

  • Genomic analysis of Andamanese provides insights into ancient human migration into Asia and adaptation.

    abstract：:To shed light on the peopling of South Asia and the origins of the morphological adaptations found there, we analyzed whole-genome sequences from 10 Andamanese individuals and compared them with sequences for 60 individuals from mainland Indian populations with different ethnic histories and with publicly available da...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3621

    authors： Mondal M,Casals F,Xu T,Dall'Olio GM,Pybus M,Netea MG,Comas D,Laayouni H,Li Q,Majumder PP,Bertranpetit J

    更新日期：2016-09-01 00:00:00

  • Genome-wide association study identifies a susceptibility locus at 21q21 for ventricular fibrillation in acute myocardial infarction.

    abstract：:Sudden cardiac death from ventricular fibrillation during acute myocardial infarction is a leading cause of total and cardiovascular mortality. To our knowledge, we here report the first genome-wide association study for this trait, conducted in a set of 972 individuals with a first acute myocardial infarction, 515 of...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.623

    authors： Bezzina CR,Pazoki R,Bardai A,Marsman RF,de Jong JSSG,Blom MT,Scicluna BP,Jukema JW,Bindraban NR,Lichtner P,Pfeufer A,Bishopric NH,Roden DM,Meitinger T,Chugh SS,Myerburg RJ,Jouven X,Kääb S,Dekker LRC,Tan HL,Tanck M

    更新日期：2010-08-01 00:00:00

  • Polymorphisms in FKBP5 are associated with increased recurrence of depressive episodes and rapid response to antidepressant treatment.

    abstract：:The stress hormone-regulating hypothalamic-pituitary-adrenal (HPA) axis has been implicated in the causality as well as the treatment of depression. To investigate a possible association between genes regulating the HPA axis and response to antidepressants and susceptibility for depression, we genotyped single-nucleot...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1479

    authors： Binder EB,Salyakina D,Lichtner P,Wochnik GM,Ising M,Pütz B,Papiol S,Seaman S,Lucae S,Kohli MA,Nickel T,Künzel HE,Fuchs B,Majer M,Pfennig A,Kern N,Brunner J,Modell S,Baghai T,Deiml T,Zill P,Bondy B,Rupprecht R

    更新日期：2004-12-01 00:00:00

  • Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus.

    abstract：:Systemic lupus erythematosus (SLE) is a complex autoimmune disease that causes substantial morbidity. As is typical for many other multifactorial disorders, much of the heritability of SLE remains unknown. We identified a rare autosomal recessive form of SLE, in which autozygome analysis revealed a null mutation in th...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.975

    authors： Al-Mayouf SM,Sunker A,Abdwani R,Abrawi SA,Almurshedi F,Alhashmi N,Al Sonbul A,Sewairi W,Qari A,Abdallah E,Al-Owain M,Al Motywee S,Al-Rayes H,Hashem M,Khalak H,Al-Jebali L,Alkuraya FS

    更新日期：2011-10-23 00:00:00

  • Probabilistic fine-mapping of transcriptome-wide association studies.

    abstract：:Transcriptome-wide association studies using predicted expression have identified thousands of genes whose locally regulated expression is associated with complex traits and diseases. In this work, we show that linkage disequilibrium induces significant gene-trait associations at non-causal genes as a function of the ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/s41588-019-0367-1

    authors： Mancuso N,Freund MK,Johnson R,Shi H,Kichaev G,Gusev A,Pasaniuc B

    更新日期：2019-04-01 00:00:00

  • A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency.

    abstract：:Patients with a combined immunodeficiency characterized by normal numbers but impaired function of T and B cells had a homozygous p.Tyr20His substitution in transferrin receptor 1 (TfR1), encoded by TFRC. The substitution disrupts the TfR1 internalization motif, resulting in defective receptor endocytosis and markedly...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3465

    authors： Jabara HH,Boyden SE,Chou J,Ramesh N,Massaad MJ,Benson H,Bainter W,Fraulino D,Rahimov F,Sieff C,Liu ZJ,Alshemmari SH,Al-Ramadi BK,Al-Dhekri H,Arnaout R,Abu-Shukair M,Vatsayan A,Silver E,Ahuja S,Davies EG,Sola-Visne

    更新日期：2016-01-01 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