Abstract:
:We report that mutation in the gene for plectin, a cytoskeleton-membrane anchorage protein, is a cause of autosomal recessive muscular dystrophy associated with skin blistering (epidermolysis bullosa simplex). The evidence comes from absence of plectin by antibody staining in affected individuals from four families, supportive genetic analysis (localization of the human plectin gene to chromosome 8q24.13-qter and evidence for disease segregation with markers in this region) and finally the identification of a homozygous frameshift mutation detected in plectin cDNA. Absence of the large multifunctional cytoskeleton protein plectin can simultaneously account for structural failure in both muscle and skin.
journal_name
Nat Genetjournal_title
Nature geneticsauthors
Smith FJ,Eady RA,Leigh IM,McMillan JR,Rugg EL,Kelsell DP,Bryant SP,Spurr NK,Geddes JF,Kirtschig G,Milana G,de Bono AG,Owaribe K,Wiche G,Pulkkinen L,Uitto J,McLean WH,Lane EBdoi
10.1038/ng0896-450subject
Has Abstractpub_date
1996-08-01 00:00:00pages
450-7issue
4eissn
1061-4036issn
1546-1718journal_volume
13pub_type
杂志文章相关文献
NATURE GENETICS文献大全abstract::Microarray analysis has become a widely used tool for the generation of gene expression data on a genomic scale. Although many significant results have been derived from microarray studies, one limitation has been the lack of standards for presenting and exchanging such data. Here we present a proposal, the Minimum In...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1201-365
更新日期:2001-12-01 00:00:00
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
更新日期:2011-10-23 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::Genetic linkage studies with chromosome 21 DNA markers and mutation analysis of the beta-amyloid protein precursor gene located in 21q21.3 have indicated that early-onset Alzheimer's disease (EOAD) is a heterogeneous disorder for which at least one other chromosomal locus exists. We examined two extended histopatholog...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1292-335
更新日期:1992-12-01 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::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
更新日期:1998-07-01 00:00:00
abstract::In the version of the article published, the author list is not accurate. Igor Cima and Min-Han Tan should have been authors, appearing after Mark Wong in the author list, while Paul Jongjoon Choi should not have been listed as an author. Igor Cima and Min-Han Tan both have the affiliation Institute of Bioengineering ...
journal_title:Nature genetics
pub_type: 杂志文章,已发布勘误
doi:10.1038/s41588-018-0299-1
更新日期:2018-12-01 00:00:00
abstract::Trophoblast cells of the placenta are established at the blastocyst stage and differentiate into specialized subtypes after implantation. In mice, the outer layer of the placenta consists of trophoblast giant cells that invade the uterus and promote maternal blood flow to the implantation site by producing cytokines w...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/77076
更新日期:2000-07-01 00:00:00
abstract::Large-scale mutagenesis of the mouse genome is an essential task associated with the Human Genome Project. The two opposing schools of direct and reverse genetics have demonstrated comparable advantages, and yet large numbers of mutant lines have mostly been the prerogative of direct genetics. An improved gene-trappin...
journal_title:Nature genetics
pub_type: 评论,新闻
doi:10.1038/90017
更新日期:2001-07-01 00:00:00
abstract::In mouse and man, deletions of specific regions of the Y chromosome have been linked to early failure of spermatogenesis and consequent sterility; the Y chromosomal gene(s) with this essential early role in spermatogenesis have not been identified. The partial deletion of the mouse Y short arm (the Sxrb deletion) that...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng717
更新日期:2001-09-01 00:00:00
abstract::Deep catalogs of genetic variation from thousands of humans enable the detection of intraspecies constraint by identifying coding regions with a scarcity of variation. While existing techniques summarize constraint for entire genes, single gene-wide metrics conceal regional constraint variability within each gene. The...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-018-0294-6
更新日期:2019-01-01 00:00:00
abstract::Bread wheat improvement using genomic tools is essential for accelerating trait genetic gains. Here we report the genomic predictabilities of 35 key traits and demonstrate the potential of genomic selection for wheat end-use quality. We also performed a large genome-wide association study that identified several signi...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-019-0496-6
更新日期:2019-10-01 00:00:00
abstract::Genome-wide association studies have identified several loci associated with pancreatic cancer risk; however, the mechanisms by which genetic factors influence the development of sporadic pancreatic cancer remain largely unknown. Here, by using genome-wide association analysis and functional characterization, we ident...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3568
更新日期:2016-07-01 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::Marine mammals from different mammalian orders share several phenotypic traits adapted to the aquatic environment and therefore represent a classic example of convergent evolution. To investigate convergent evolution at the genomic level, we sequenced and performed de novo assembly of the genomes of three species of m...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3198
更新日期:2015-03-01 00:00:00
abstract::To further understanding of the genetic basis of type 2 diabetes (T2D) susceptibility, we aggregated published meta-analyses of genome-wide association studies (GWAS), including 26,488 cases and 83,964 controls of European, east Asian, south Asian and Mexican and Mexican American ancestry. We observed a significant ex...
journal_title:Nature genetics
pub_type: 杂志文章,meta分析
doi:10.1038/ng.2897
更新日期:2014-03-01 00:00:00
abstract::Loss of heterozygosity (LOH) of markers on human chromosome 7q31 is frequently encountered in a variety of human neoplasias, indicating the presence of a tumor-suppressor gene (TSG). By a combination of microcell-fusion and deletion-mapping studies, we previously established that this TSG resides within a critical reg...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/86891
更新日期:2001-04-01 00:00:00
abstract::Genetic recombination is a major force driving the evolution of many viruses. Recombination between two copackaged retroviral genomes may occur at rates as high as 40% per replication cycle. This enables genetic information to be shuffled rapidly, leading to recombinants with new patterns of mutations and phenotypes. ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/78132
更新日期:2000-08-01 00:00:00
abstract::Using microarrays, we identified de novo copy number variations in the SHANK2 synaptic scaffolding gene in two unrelated individuals with autism-spectrum disorder (ASD) and mental retardation. DNA sequencing of SHANK2 in 396 individuals with ASD, 184 individuals with mental retardation and 659 unaffected individuals (...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.589
更新日期:2010-06-01 00:00:00
abstract::SNP genotyping has emerged as a technology to incorporate copy number variants (CNVs) into genetic analyses of human traits. However, the extent to which SNP platforms accurately capture CNVs remains unclear. Using independent, sequence-based CNV maps, we find that commonly used SNP platforms have limited or no probe ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.236
更新日期:2008-10-01 00:00:00
abstract::The genetic elements required to tune gene expression are partitioned in active and repressive nuclear condensates. Chromatin compartments include transcriptional clusters whose dynamic establishment and functioning depend on multivalent interactions occurring among transcription factors, cofactors and basal transcrip...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-020-00724-8
更新日期:2020-12-01 00:00:00
abstract::Genome-wide association studies (GWAS) have not consistently detected replicable genetic risk factors for ischemic stroke, potentially due to etiological heterogeneity of this trait. We performed GWAS of ischemic stroke and a major ischemic stroke subtype (large artery atherosclerosis, LAA) using 1,162 ischemic stroke...
journal_title:Nature genetics
pub_type: 杂志文章,meta分析
doi:10.1038/ng.2397
更新日期:2012-10-01 00:00:00
abstract::Plants intimately associate with diverse bacteria. Plant-associated bacteria have ostensibly evolved genes that enable them to adapt to plant environments. However, the identities of such genes are mostly unknown, and their functions are poorly characterized. We sequenced 484 genomes of bacterial isolates from roots o...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-017-0012-9
更新日期:2017-12-18 00:00:00
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
更新日期:1993-12-01 00:00:00
abstract::Atopic or immunoglobulin E (IgE)-mediated diseases include the common disorders of asthma, atopic dermatitis and allergic rhinitis. Chromosome 13q14 shows consistent linkage to atopy and the total serum IgE concentration. We previously identified association between total serum IgE levels and a novel 13q14 microsatell...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1166
更新日期:2003-06-01 00:00:00
abstract::The past decade has seen great advances in unraveling the biological basis of hereditary ataxias. Molecular studies of spinocerebellar ataxias (SCA) have extended our understanding of dominant ataxias. Causative genes have been identified for a few autosomal recessive ataxias: Friedreich's ataxia, ataxia with vitamin ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1927
更新日期:2007-01-01 00:00:00
abstract::Schwannomas are common peripheral nerve sheath tumors that can cause debilitating morbidities. We performed an integrative analysis to determine genomic aberrations common to sporadic schwannomas. Exome sequence analysis with validation by targeted DNA sequencing of 125 samples uncovered, in addition to expected NF2 d...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3688
更新日期:2016-11-01 00:00:00
abstract::Dentinogenesis imperfecta (DGI) is characterized by discolored teeth with an opalescent sheen and dentin that fails to support enamel, causing it to easily chip. Two new studies show that DGI is associated with mutations in DSPP, a gene encoding dentin sialophosphoprotein that is processed into two proteins: dentin si...
journal_title:Nature genetics
pub_type: 评论,杂志文章
doi:10.1038/84728
更新日期:2001-02-01 00:00:00
abstract::Our genome-wide association study of celiac disease previously identified risk variants in the IL2-IL21 region. To identify additional risk variants, we genotyped 1,020 of the most strongly associated non-HLA markers in an additional 1,643 cases and 3,406 controls. Through joint analysis including the genome-wide asso...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.102
更新日期:2008-04-01 00:00:00
abstract::Using transgenic mice expressing human cystatin C (encoded by CST3), we show that cystatin C binds soluble amyloid-beta peptide and inhibits cerebral amyloid deposition in amyloid-beta precursor protein (APP) transgenic mice. Cystatin C expression twice that of the endogenous mouse cystatin C was sufficient to substan...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.2007.29
更新日期:2007-12-01 00:00:00