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::Joubert syndrome-related disorders (JSRD) are a group of syndromes sharing the neuroradiological features of cerebellar vermis hypoplasia and a peculiar brainstem malformation known as the 'molar tooth sign'. We identified mutations in the CEP290 gene in five families with variable neurological, retinal and renal mani...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1805
更新日期:2006-06-01 00:00:00
abstract::Animal development is an extremely robust process resulting in stereotyped outcomes. Canalization is a design principle wherein developmental pathways are stabilized to increase phenotypic reproducibility. Recent revelations into microRNA (miRNA) function suggest that miRNAs act as key players in canalizing genetic pr...
journal_title:Nature genetics
pub_type: 杂志文章,评审
doi:10.1038/ng1803
更新日期:2006-06-01 00:00:00
abstract::The mitochondrial (mt) DNA depletion syndromes (MDDS) are genetic disorders characterized by a severe, tissue-specific decrease of mtDNA copy number, leading to organ failure. There are two main clinical presentations: myopathic (OMIM 609560) and hepatocerebral (OMIM 251880). Known mutant genes, including TK2, SUCLA2,...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1765
更新日期:2006-05-01 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::Urolithiasis is one of the most common urologic diseases in industrialized societies. Calcium oxalate is the predominant component in 70-80% of kidney stones, and small changes in urinary oxalate concentration affect the risk of stone formation. SLC26A6 is an anion exchanger expressed on the apical membrane in many ep...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1762
更新日期:2006-04-01 00:00:00
abstract::Type 1 diabetes is an autoimmune disease influenced by multiple genetic loci. Although more than 20 insulin-dependent diabetes (Idd) loci have been implicated in the nonobese diabetic (NOD) mouse model, few causal gene variants have been identified. Here we show that RNA interference (RNAi) can be used to probe candid...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1766
更新日期:2006-04-01 00:00:00
abstract::The pathogenesis of Bacillus anthracis, the bacterium that causes anthrax, depends on secretion of three factors that combine to form two bipartite toxins. Edema toxin, consisting of protective antigen (PA) and edema factor (EF), causes the edema associated with cutaneous anthrax infections, whereas lethal toxin (LeTx...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1724
更新日期:2006-02-01 00:00:00
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
更新日期:2006-01-01 00:00:00
abstract::Mitotic chromosome segregation is facilitated by the cohesin complex, which maintains physical connections between sister chromatids until anaphase. Meiotic cell division is considerably more complex, as cohesion must be released sequentially to facilitate orderly segregation of chromosomes at both meiosis I and meios...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1672
更新日期:2005-12-01 00:00:00
abstract::Incorporation of selenocysteine (Sec), through recoding of the UGA stop codon, creates a unique class of proteins. Mice lacking tRNA(Sec) die in utero, but the in vivo role of other components involved in selenoprotein synthesis is unknown, and Sec incorporation defects have not been described in humans. Deiodinases (...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1654
更新日期:2005-11-01 00:00:00
abstract::We identified homozygous truncating mutations in HOXA1 in three genetically isolated human populations. The resulting phenotype includes horizontal gaze abnormalities, deafness, facial weakness, hypoventilation, vascular malformations of the internal carotid arteries and cardiac outflow tract, mental retardation and a...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1636
更新日期:2005-10-01 00:00:00
abstract::Errors in meiotic chromosome segregation are the leading cause of spontaneous abortions and birth defects. In humans, chromosomes that fail to experience crossovers (or exchanges) are error-prone, more likely than exchange chromosomes to mis-segregate in meiosis. We used a yeast model to investigate the mechanisms tha...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1588
更新日期:2005-07-01 00:00:00
abstract::The Human Genome Project and its spin-offs are making it increasingly feasible to determine the genetic basis of complex traits using genome-wide association studies. The statistical challenge of analyzing such studies stems from the severe multiple-comparison problem resulting from the analysis of thousands of SNPs. ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1582
更新日期:2005-07-01 00:00:00
abstract::Mutations involving gains of glycosylation have been considered rare, and the pathogenic role of the new carbohydrate chains has never been formally established. We identified three children with mendelian susceptibility to mycobacterial disease who were homozygous with respect to a missense mutation in IFNGR2 creatin...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1581
更新日期:2005-07-01 00:00:00
abstract::Imprinted genes show differential expression between maternal and paternal alleles as a consequence of epigenetic modification that can result in 'parent-of-origin' effects on phenotypic traits. There is increasing evidence from mouse and human studies that imprinted genes may influence behavior and cognitive function...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1577
更新日期:2005-06-01 00:00:00
abstract::Acquired mutations in the hematopoietic transcription factor GATA binding protein-1 (GATA1) are found in megakaryoblasts from nearly all individuals with Down syndrome with transient myeloproliferative disorder (TMD, also called transient leukemia) and the related acute megakaryoblastic leukemia (DS-AMKL, also called ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1566
更新日期:2005-06-01 00:00:00
abstract::Genome-wide association studies with SNP markers are expected to allow identification of genes that underlie complex disorders. Hundreds of thousands of SNP markers will be required for comprehensive genome-wide association studies. The development of microarray-based methods for SNP genotyping on this scale remains a...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1558
更新日期:2005-06-01 00:00:00
abstract::We describe a highly engineered in vivo cloning method, mating-assisted genetically integrated cloning (MAGIC), that facilitates the rapid construction of recombinant DNA molecules. MAGIC uses bacterial mating, in vivo site-specific endonuclease cleavage and homologous recombination to catalyze the transfer of a DNA f...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1505
更新日期:2005-03-01 00:00:00
abstract::Osteoarthritis is the most common form of human arthritis. We investigated the potential role of asporin, an extracellular matrix component expressed abundantly in the articular cartilage of individuals with osteoarthritis, in the pathogenesis of osteoarthritis. Here we report a significant association between a polym...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1496
更新日期:2005-02-01 00:00:00
abstract::Interindividual variability in drug response, ranging from no therapeutic benefit to life-threatening adverse reactions, is influenced by variation in genes that control the absorption, distribution, metabolism and excretion of drugs. We genotyped 904 single-nucleotide polymorphisms (SNPs) from 55 such genes in two po...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1488
更新日期:2005-01-01 00:00:00
abstract::Crosstalk between signaling pathways is crucial for the generation of complex and varied transcriptional networks. Antagonism between the EGF-receptor (EGFR) and Notch pathways in particular is well documented, although the underlying mechanism is poorly understood. The global corepressor Groucho (Gro) and its transdu...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1486
更新日期:2005-01-01 00:00:00
abstract::Splice acceptors with the genomic NAGNAG motif may cause NAG insertion-deletions in transcripts, occur in 30% of human genes and are functional in at least 5% of human genes. We found five significant biases indicating that their distribution is nonrandom and that they are evolutionarily conserved and tissue-specific....
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1469
更新日期:2004-12-01 00:00:00
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
更新日期:2004-12-01 00:00:00
abstract::The goal of the Complex Trait Consortium is to promote the development of resources that can be used to understand, treat and ultimately prevent pervasive human diseases. Existing and proposed mouse resources that are optimized to study the actions of isolated genetic loci on a fixed background are less effective for ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1104-1133
更新日期:2004-11-01 00:00:00
abstract::Legionella pneumophila, the causative agent of Legionnaires' disease, replicates as an intracellular parasite of amoebae and persists in the environment as a free-living microbe. Here we have analyzed the complete genome sequences of L. pneumophila Paris (3,503,610 bp, 3,077 genes), an endemic strain that is predomina...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1447
更新日期:2004-11-01 00:00:00
abstract::New genetic data has enabled scientists to re-examine the relationship between human genetic variation and 'race'. We review the results of genetic analyses that show that human genetic variation is geographically structured, in accord with historical patterns of gene flow and genetic drift. Analysis of many loci now ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1435
更新日期:2004-11-01 00:00:00
abstract::Protein-protein interactions may impose constraints on both structural and regulatory evolution. Here we show that protein-protein interactions are negatively associated with evolutionary variation in gene expression. Moreover, interacting proteins have similar levels of variation in expression, and their expression l...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1427
更新日期:2004-10-01 00:00:00
abstract::PDGF-C is a member of the platelet-derived growth factor (PDGF) family, which signals through PDGF receptor (PDGFR) alphaalpha and alphabeta dimers. Here we show that Pdgfc(-/-) mice die in the perinatal period owing to feeding and respiratory difficulties associated with a complete cleft of the secondary palate. This...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1415
更新日期:2004-10-01 00:00:00
abstract::CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlapping microdeletion on chromosome 8q12 identified by array comparative genomic hybridization in two individuals with CHARGE syndrome. Sequence analysis of genes located in this r...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1407
更新日期:2004-09-01 00:00:00
abstract::The combination of inhibition of RNA degradation and comparative genomic scanning is a powerful new method for detecting gene disruptions. The utility of the method is well-illustrated by a series of observations linking the ephrin receptor EPHB2 to prostate cancer. ...
journal_title:Nature genetics
pub_type: 评论,新闻
doi:10.1038/ng0904-937
更新日期:2004-09-01 00:00:00
abstract::The overgrowth- and tumor-associated Beckwith-Wiedemann syndrome results from dysregulation of imprinted genes on chromosome 11p15.5. Here we show that inherited microdeletions in the H19 differentially methylated region (DMR) that abolish two CTCF target sites cause this disease. Maternal transmission of the deletion...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1410
更新日期:2004-09-01 00:00:00
abstract::We identified the gene carrying the juvenile spermatogonial depletion mutation (jsd), a recessive spermatogenic defect mapped to mouse chromosome 1 (refs. 1,2). We localized jsd to a 272-kb region and resequenced this area to identify the underlying mutation: a frameshift that severely truncates the predicted protein ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1390
更新日期:2004-08-01 00:00:00
abstract::Retinitis pigmentosa is an untreatable, inherited retinal disease that leads to blindness. The disease initiates with the loss of night vision due to rod photoreceptor degeneration, followed by irreversible, progressive loss of cone photoreceptor. Cone loss is responsible for the main visual handicap, as cones are ess...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1386
更新日期:2004-07-01 00:00:00
abstract::Characterizing fine-scale variation in human recombination rates is important, both to deepen understanding of the recombination process and to aid the design of disease association studies. Current genetic maps show that rates vary on a megabase scale, but studying finer-scale variation using pedigrees is difficult. ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1376
更新日期:2004-07-01 00:00:00
abstract::Mutations in PRKCSH, encoding the beta-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum (ER), cause autosomal dominant polycystic liver disease. We found that mutations in SEC63, encoding a component of the protein translocation machinery in the ER, also cause this disease. ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1357
更新日期:2004-06-01 00:00:00
abstract::We are beginning to elucidate transcriptional regulatory networks on a large scale and to understand some of the structural principles of these networks, but the evolutionary mechanisms that form these networks are still mostly unknown. Here we investigate the role of gene duplication in network evolution. Gene duplic...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1340
更新日期:2004-05-01 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::Population stratification refers to differences in allele frequencies between cases and controls due to systematic differences in ancestry rather than association of genes with disease. It has been proposed that false positive associations due to stratification can be controlled by genotyping a few dozen unlinked gene...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1333
更新日期:2004-04-01 00:00:00
abstract::We report that a single-nucleotide polymorphism (SNP) in the gene (PTPN22) encoding the lymphoid protein tyrosine phosphatase (LYP), a suppressor of T-cell activation, is associated with type 1 diabetes mellitus (T1D). The variants encoded by the two alleles, 1858C and 1858T, differ in a crucial amino acid residue inv...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1323
更新日期:2004-04-01 00:00:00
abstract::Distal hereditary motor neuropathy (dHMN) or distal spinal muscular atrophy (OMIM #182960) is a heterogeneous group of disorders characterized by an almost exclusive degeneration of motor nerve fibers, predominantly in the distal part of the limbs. Silver syndrome (OMIM #270685) is a rare form of hereditary spastic pa...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1313
更新日期:2004-03-01 00:00:00