解剖学和形态学
麻醉学
听力与言语-语言病理学
行为科学
心脏和心血管系统
细胞和组织工程学
临床神经病学
危重症监护医学
牙科,口腔外科和医学
皮肤病学
急诊医学
内分泌学和新陈代谢
肠胃学和肝脏学
老人病学和老年医学
卫生保健科学和服务
血液学
免疫学
传染病
综合和补充性医学
医学伦理学
医学信息学
医学实验室技术
医学,全科和内科
医学,法律
医学,研究和试验
神经系统科学
护理
营养学和饮食学
产科医学和妇科医学
肿瘤学
眼科学
整形外科学
耳鼻喉科学
病理学
儿科学
周围血管疾病
药理学和药剂学
生理学
基本医疗保健
精神病学
公共、环境和职业卫生
放射学,核医学和医学成像
康复学
生殖生物学
呼吸系统
风湿病学
运动科学
外科学
毒理学
热带医学
泌尿学和肾脏学
病毒学
老年医学
健康政策和服务
心理学,临床
abstract::Height is a classic polygenic trait, reflecting the combined influence of multiple as-yet-undiscovered genetic factors. We carried out a meta-analysis of genome-wide association study data of height from 15,821 individuals at 2.2 million SNPs, and followed up the strongest findings in >10,000 subjects. Ten newly ident...
journal_title:Nature genetics
pub_type: 杂志文章,meta分析
doi:10.1038/ng.125
更新日期:2008-05-01 00:00:00
abstract::There is increasing evidence showing that the stromal cells surrounding cancer epithelial cells, rather than being passive bystanders, might have a role in modifying tumor outgrowth. The molecular basis of this aspect of carcinoma etiology is controversial. Some studies have reported a high frequency of genetic aberra...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.117
更新日期:2008-05-01 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::We report the first identified mutation in the gene encoding human cytochrome c (CYCS). Glycine 41, invariant throughout eukaryotes, is substituted by serine in a family with autosomal dominant thrombocytopenia caused by dysregulated platelet formation. The mutation yields a cytochrome c variant with enhanced apoptoti...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.103
更新日期:2008-04-01 00:00:00
abstract::Hypotrichosis simplex is a group of nonsyndromic human alopecias. We mapped an autosomal recessive form of this disorder to chromosome 13q14.11-13q21.33, and identified homozygous truncating mutations in P2RY5, which encodes an orphan G protein-coupled receptor. Furthermore, we identified oleoyl-L-alpha-lysophosphatid...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.84
更新日期:2008-03-01 00:00:00
abstract::Studying consanguineous families with Ghosal hematodiaphyseal dysplasia syndrome (GHDD), a disorder of increased bone density, we identified mutations in TBXAS1, which encodes thromboxane synthase (TXAS). TXAS, an enzyme of the arachidonic acid cascade, produces thromboxane A(2) (TXA(2)). Platelets from subjects with ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.2007.66
更新日期:2008-03-01 00:00:00
abstract::The fundamental aim of genetics is to understand how an organism's phenotype is determined by its genotype, and implicit in this is predicting how changes in DNA sequence alter phenotypes. A single network covering all the genes of an organism might guide such predictions down to the level of individual cells and tiss...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.2007.70
更新日期:2008-02-01 00:00:00
abstract::Kawasaki disease is a pediatric systemic vasculitis of unknown etiology for which a genetic influence is suspected. We identified a functional SNP (itpkc_3) in the inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) gene on chromosome 19q13.2 that is significantly associated with Kawasaki disease susceptibility and also w...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.2007.59
更新日期:2008-01-01 00:00:00
abstract::The human genome sequence has been finished to very high standards; however, more than 340 gaps remained when the finished genome was published by the International Human Genome Sequencing Consortium in 2004. Using fosmid resources generated from multiple individuals, we targeted gaps in the euchromatic part of the hu...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.2007.34
更新日期:2008-01-01 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
abstract::Hypertriglyceridemia is a hallmark of many disorders, including metabolic syndrome, diabetes, atherosclerosis and obesity. A well-known cause is the deficiency of lipoprotein lipase (LPL), a key enzyme in plasma triglyceride hydrolysis. Mice carrying the combined lipase deficiency (cld) mutation show severe hypertrigl...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.2007.24
更新日期:2007-12-01 00:00:00
abstract::Integrity of the blood vessel wall is essential for vascular homeostasis and organ function. A dynamic balance between endothelial cell survival and apoptosis contributes to this integrity during vascular development and pathological angiogenesis. The genetic and molecular mechanisms regulating these processes in vivo...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.2007.8
更新日期:2007-11-01 00:00:00
abstract::Autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a microvascular endotheliopathy with middle-age onset. In nine families, we identified heterozygous C-terminal frameshift mutations in TREX1, which encodes a 3'-5' exonuclease. These truncated proteins retain exonuclease activity but lose normal p...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng2082
更新日期:2007-09-01 00:00:00
abstract::Linkage disequilibrium (LD) is a major aspect of the organization of genetic variation in natural populations. Here we describe the genome-wide pattern of LD in a sample of 19 Arabidopsis thaliana accessions using 341,602 non-singleton SNPs. LD decays within 10 kb on average, considerably faster than previously estima...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng2115
更新日期:2007-09-01 00:00:00
abstract::Restless legs syndrome (RLS) is a frequent neurological disorder characterized by an imperative urge to move the legs during night, unpleasant sensation in the lower limbs, disturbed sleep and increased cardiovascular morbidity. In a genome-wide association study we found highly significant associations between RLS an...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng2099
更新日期:2007-08-01 00:00:00
abstract::17q11 microdeletions that encompass NF1 cause 5%-10% of cases of neurofibromatosis type 1, and individuals with microdeletions are typically taller than individuals with intragenic NF1 mutations, suggesting that deletion of a neighboring gene might promote human growth. We identified mutations in RNF135, which is with...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng2083
更新日期:2007-08-01 00:00:00
abstract::The Wellcome Trust Case Control Consortium (WTCCC) primary genome-wide association (GWA) scan on seven diseases, including the multifactorial autoimmune disease type 1 diabetes (T1D), shows associations at P < 5 x 10(-7) between T1D and six chromosome regions: 12q24, 12q13, 16p13, 18p11, 12p13 and 4q27. Here, we attem...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng2068
更新日期:2007-07-01 00:00:00
abstract::Focal dermal hypoplasia is an X-linked dominant disorder characterized by patchy hypoplastic skin and digital, ocular and dental malformations. We used array comparative genomic hybridization to identify a 219-kb deletion in Xp11.23 in two affected females. We sequenced genes in this region and found heterozygous and ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng2057
更新日期:2007-07-01 00:00:00
abstract::The central goal of human genetics is to understand the inherited basis of human variation in phenotypes, elucidating human physiology, evolution and disease. Rare mutations have been found underlying two thousand mendelian diseases; more recently, it has become possible to assess systematically the contribution of co...
journal_title:Nature genetics
pub_type: 杂志文章,评审
doi:10.1038/ng2080
更新日期:2007-07-01 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::Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) has recently been defined based on a highly characteristic constellation of abnormalities observed by magnetic resonance imaging and spectroscopy. LBSL is an autosomal recessive disease, most often manifesting in early childho...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng2013
更新日期:2007-04-01 00:00:00
abstract::Inactivation of TGF-beta family signaling is implicated in colorectal tumor progression. Using cis-Apc(+/Delta716) Smad4(+/-) mutant mice (referred to as cis-Apc/Smad4), a model of invasive colorectal cancer in which TGF-beta family signaling is blocked, we show here that a new type of immature myeloid cell (iMC) is r...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1997
更新日期:2007-04-01 00:00:00
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
更新日期:2007-03-01 00:00:00
abstract::Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,181 [corrected] famil...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1985
更新日期:2007-03-01 00:00:00
abstract::The recycling of the amyloid precursor protein (APP) from the cell surface via the endocytic pathways plays a key role in the generation of amyloid beta peptide (Abeta) in Alzheimer disease. We report here that inherited variants in the SORL1 neuronal sorting receptor are associated with late-onset Alzheimer disease. ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1943
更新日期:2007-02-01 00:00:00
abstract::The eighth annual Human Genome Variation Meeting was held in September 2006 in the Hong Kong Special Administrative Region, China. The meeting highlighted recent advances in characterization of genetic variation, including genome-wide association studies and structural variation. ...
journal_title:Nature genetics
pub_type:
doi:10.1038/ng0207-153
更新日期:2007-02-01 00:00:00
abstract::Many genes associated with CpG islands undergo de novo methylation in cancer. Studies have suggested that the pattern of this modification may be partially determined by an instructive mechanism that recognizes specifically marked regions of the genome. Using chromatin immunoprecipitation analysis, here we show that g...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1950
更新日期:2007-02-01 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::R-spondins are a recently characterized small family of growth factors. Here we show that human R-spondin1 (RSPO1) is the gene disrupted in a recessive syndrome characterized by XX sex reversal, palmoplantar hyperkeratosis and predisposition to squamous cell carcinoma of the skin. Our data show, for the first time, th...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1907
更新日期:2006-11-01 00:00:00
abstract::A general question for linkage disequilibrium-based association studies is how power to detect an association is compromised when tag SNPs are chosen from data in one population sample and then deployed in another sample. Specifically, it is important to know how well tags picked from the HapMap DNA samples capture th...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1899
更新日期:2006-11-01 00:00:00
abstract::An earlier search in the human, mouse and rat genomes for sequences that are 100% conserved in orthologous segments and > or = 200 bp in length identified 481 distinct sequences. These human-mouse-rat sequences, which represent ultraconserved elements (UCEs), are believed to be important for functions involving DNA bi...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1888
更新日期:2006-10-01 00:00:00
abstract::The hedgehog family of morphogens are regulators of cell proliferation, differentiation and cell-cell communication. These morphogens have been shown to have important roles in organogenesis, spermatogenesis, stem cell maintenance and oncogenesis. Indian hedgehog (encoded by Ihh) has been shown to be expressed in the ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1874
更新日期:2006-10-01 00:00:00
abstract::Genetic robustness characterizes the constancy of the phenotype in face of heritable perturbations. Previous investigations have used comprehensive single and double gene knockouts to study gene essentiality and pairwise gene interactions in the yeast Saccharomyces cerevisiae. Here we conduct an in silico multiple kno...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1856
更新日期:2006-09-01 00:00:00
abstract::The budding yeast Saccharomyces cerevisiae has been used by humans for millennia to make wine, beer and bread. More recently, it became a key model organism for studies of eukaryotic biology and for genomic analysis. However, relatively little is known about the natural lifestyle and population genetics of yeast. One ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1859
更新日期:2006-09-01 00:00:00
abstract::Plant imprinted genes show parent-of-origin expression in seed endosperm, but little is known about the nature of parental imprints in gametes before fertilization. We show here that single differentially methylated regions (DMRs) correlate with allele-specific expression of two maternally expressed genes in the seed ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1828
更新日期:2006-08-01 00:00:00
abstract::We performed a whole-genome association analysis of lung tumor susceptibility using dense SNP maps ( approximately 1 SNP per 20 kb) in inbred mice. We reproduced the pulmonary adenoma susceptibility 1 (Pas1) locus identified in previous linkage studies and further narrowed this quantitative trait locus (QTL) to a regi...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1849
更新日期:2006-08-01 00:00:00
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 a...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1842
更新日期:2006-08-01 00:00:00
abstract::The abundance of transposable elements and DNA repeat sequences in mammalian genomes raises the question of whether such insertions represent passive evolutionary baggage or may influence the expression of complex traits. We addressed this question in Drosophila melanogaster, in which the effects of single transposabl...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1823
更新日期:2006-07-01 00:00:00
abstract::Variation for metabolite composition and content is often observed in plants. However, it is poorly understood to what extent this variation has a genetic basis. Here, we describe the genetic analysis of natural variation in the metabolite composition in Arabidopsis thaliana. Instead of focusing on specific metabolite...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1815
更新日期:2006-07-01 00:00:00
abstract::Extremes of the electrocardiographic QT interval, a measure of cardiac repolarization, are associated with increased cardiovascular mortality. We identified a common genetic variant influencing this quantitative trait through a genome-wide association study on 200 subjects at the extremes of a population-based QT inte...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1790
更新日期:2006-06-01 00:00:00