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::The Drosophila melanogaster gene Dscam is essential for axon guidance and has 38,016 possible alternative splice forms. This diversity can potentially be used to distinguish cells. We analyzed the Dscam mRNA isoforms expressed by different cell types and individual cells. The choice of splice variants expressed is reg...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1299
更新日期:2004-03-01 00:00:00
abstract::Cold induces expression of a number of genes that encode proteins that enhance tolerance to freezing temperatures in plants. A cis-acting element responsive to cold and drought, the C-repeat/dehydration-responsive element (C/DRE), was identified in the Arabidopsis thaliana stress-inducible genes RD29A and COR15a and f...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1298
更新日期:2004-02-01 00:00:00
abstract::Replication protein A (RPA) is a highly conserved single-stranded DNA-binding protein involved in DNA replication, recombination and repair. We show here that RPA is present at the telomeres of the budding yeast Saccharomyces cerevisiae, with a maximal association in S phase. A truncation of the N-terminal region of R...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1284
更新日期:2004-01-01 00:00:00
abstract::The mammalian homeobox transcription factor CDX2 has key roles in intestinal development and differentiation. Heterozygous Cdx2 mice develop one or two benign hamartomas in the proximal colon, whereas heterozygous Apc(Delta716) mice develop numerous adenomatous polyps, mostly in the small intestine. Here we show that ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1265
更新日期:2003-12-01 00:00:00
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
更新日期:2003-12-01 00:00:00
abstract::Schistosoma mansoni is the primary causative agent of schistosomiasis, which affects 200 million individuals in 74 countries. We generated 163,000 expressed-sequence tags (ESTs) from normalized cDNA libraries from six selected developmental stages of the parasite, resulting in 31,000 assembled sequences and 92% sampli...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1237
更新日期:2003-10-01 00:00:00
abstract::We previously mapped susceptibility to stroke to chromosome 5q12. Here we finely mapped this locus and tested it for association with stroke. We found the strongest association in the gene encoding phosphodiesterase 4D (PDE4D), especially for carotid and cardiogenic stroke, the forms of stroke related to atheroscleros...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1245
更新日期:2003-10-01 00:00:00
abstract::Age-related hearing loss (AHL) in common inbred mouse strains is a genetically complex quantitative trait. We found a synonymous single-nucleotide polymorphism in exon 7 of Cdh23 that shows significant association with AHL and the deafness modifier mdfw (modifer of deafwaddler). The hypomorphic Cdh23(753A) allele caus...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1226
更新日期:2003-09-01 00:00:00
abstract::The hindbrain roof plate and choroid plexus are essential organizing centers for inducing dorsal neuron fates and sustaining neuron function. To map the formation of these structures, we developed a broadly applicable, high resolution, recombinase-based method for mapping the fate of cells originating from coordinates...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1228
更新日期:2003-09-01 00:00:00
abstract::Most errors that arise during DNA replication can be corrected by DNA polymerase proofreading or by post-replication mismatch repair (MMR). Inactivation of both mutation-avoidance systems results in extremely high mutability that can lead to error catastrophe. High mutability and the likelihood of cancer can be caused...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1172
更新日期:2003-07-01 00:00:00
abstract::Loss of tight association between epidermis and dermis underlies several blistering disorders and is frequently caused by impaired function of extracellular matrix (ECM) proteins. Here we describe a new protein in mouse, Fras1, that is specifically detected in a linear fashion underlying the epidermis and the basal su...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1168
更新日期:2003-06-01 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::Individuals with hereditary hemochromatosis suffer from systemic iron overload due to duodenal hyperabsorption. Most cases arise from a founder mutation in HFE (845G-->A; ref. 2) that results in the amino-acid substitution C282Y and prevents the association of HFE with beta2-microglobulin. Mice homozygous with respect...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1152
更新日期:2003-05-01 00:00:00
abstract::We took advantage of overlapping interstitial deletions at chromosome 8p11-p12 in two individuals with contiguous gene syndromes and defined an interval of roughly 540 kb associated with a dominant form of Kallmann syndrome, KAL2. We establish here that loss-of-function mutations in FGFR1 underlie KAL2 whereas a gain-...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1122
更新日期:2003-04-01 00:00:00
abstract::More than 5 million single-nucleotide polymorphisms (SNPs) with minor-allele frequency greater than 10% are expected to exist in the human genome. Some of these SNPs may be associated with risk of developing common diseases. To assess the power of currently available SNPs to detect such associations, we resequenced 50...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1128
更新日期:2003-04-01 00:00:00
abstract::In the past decade, bioinformatics has become an integral part of research and development in the biomedical sciences. Bioinformatics now has an essential role both in deciphering genomic, transcriptomic and proteomic data generated by high-throughput experimental technologies and in organizing information gathered fr...
journal_title:Nature genetics
pub_type: 历史文章,杂志文章,评审
doi:10.1038/ng1109
更新日期:2003-03-01 00:00:00
abstract::The amnionless gene, Amn, on mouse chromosome 12 encodes a type I transmembrane protein that is expressed in the extraembryonic visceral layer during gastrulation. Mice homozygous with respect to the amn mutation generated by a transgene insertion have no amnion. The embryos are severely compromised, surviving to the ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1098
更新日期:2003-03-01 00:00:00
abstract::There is increasing evidence in eukaryotic genomes that gene order is not random, even allowing for tandem duplication. Notably, in numerous genomes, genes of similar expression tend to be clustered. Are there other reasons for clustering of functionally similar genes? If genes are linked to enable genetic, rather tha...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1111
更新日期:2003-03-01 00:00:00
abstract::By imposing a limit on the proliferative lifespan of most somatic cells, telomere erosion represents an innate mechanism for tumor suppression and may contribute to age-related disease. A detailed understanding of the pathways that link shortened telomeres to replicative senescence has been severely hindered by the in...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1084
更新日期:2003-02-01 00:00:00
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
更新日期:2003-02-01 00:00:00
abstract::Transcriptional silencing by CpG island methylation is a prevalent mechanism of tumor-suppressor gene suppression in cancers. Genetic experiments have defined the importance of the DNA methyltransferase Dnmt1 for the maintenance of methylation in mouse cells and its role in neoplasia. In human bladder cancer cells, se...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1068
更新日期:2003-01-01 00:00:00
abstract::Animal models indicate that the antimicrobial peptide hepcidin (HAMP; OMIM 606464) is probably a key regulator of iron absorption in mammals. Here we report the identification of two mutations (93delG and 166C-->T) in HAMP on 19q13 in two families with a new type of juvenile hemochromatosis. ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1053
更新日期:2003-01-01 00:00:00
abstract::Co-evolution between host and pathogen is, in principle, a powerful determinant of the biology and genetics of infection and disease. Yet co-evolution has proven difficult to demonstrate rigorously in practice, and co-evolutionary thinking is only just beginning to inform medical or veterinary research in any meaningf...
journal_title:Nature genetics
pub_type: 杂志文章,评审
doi:10.1038/ng1202-569
更新日期:2002-12-01 00:00:00
abstract::Communication between distal chromosomal elements is essential for control of many nuclear processes. For example, genes in higher eukaryotes often require distant enhancer sequences for high-level expression. The mechanisms proposed for long-range enhancer action fall into two basic categories. Non-contact models pro...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1051
更新日期:2002-12-01 00:00:00
abstract::The L1 retrotransposon has had an immense impact on the size and structure of the human genome through a variety of mechanisms, including insertional mutagenesis. To study retrotransposition in a living organism, we created a mouse model of human L1 retrotransposition. Here we show that L1 elements can retrotranspose ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1022
更新日期:2002-12-01 00:00:00
abstract::A single microarray can provide information on the expression of tens of thousands of genes. The amount of information generated by a microarray-based experiment is sufficiently large that no single study can be expected to mine each nugget of scientific information. As a consequence, the scale and complexity of micro...
journal_title:Nature genetics
pub_type: 杂志文章,评审
doi:10.1038/ng1028
更新日期:2002-12-01 00:00:00
abstract::The twenty-first century heralds a new era for the biological sciences and medicine. The tools of our time are allowing us to analyze complex genomes more comprehensively than ever before. A principal technology contributing to this explosion of information is the DNA microarray, which enables us to study genome-wide ...
journal_title:Nature genetics
pub_type: 杂志文章,评审
doi:10.1038/ng1038
更新日期:2002-12-01 00:00:00
abstract::Genomic imprinting is an epigenetic modification that results in expression from only one of the two parental copies of a gene. Differences in methylation between the two parental chromosomes are often observed at or near imprinted genes. Beckwith-Wiedemann syndrome (BWS), which predisposes to cancer and excessive gro...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng988
更新日期:2002-11-01 00:00:00
abstract::Interferon regulatory factor 6 (IRF6) belongs to a family of nine transcription factors that share a highly conserved helix-turn-helix DNA-binding domain and a less conserved protein-binding domain. Most IRFs regulate the expression of interferon-alpha and -beta after viral infection, but the function of IRF6 is unkno...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng985
更新日期:2002-10-01 00:00:00
abstract::Deletions on human chromosome 8p22-23 in prostate cancer cells and linkage studies in families affected with hereditary prostate cancer (HPC) have implicated this region in the development of prostate cancer. The macrophage scavenger receptor 1 gene (MSR1, also known as SR-A) is located at 8p22 and functions in severa...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng994
更新日期:2002-10-01 00:00:00
abstract::Low-level ectopic expression of the Runt transcription factor blocks activation of the Drosophila melanogaster segmentation gene engrailed (en) in odd-numbered parasegments and is associated with a lethal phenotype. Here we show, by using a genetic screen for maternal factors that contribute in a dose-dependent fashio...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng942
更新日期:2002-09-01 00:00:00
abstract::During evolution different genes evolve at unequal rates, reflecting the varying functional constraints on phenotype. An important contributor to this variation is genetic buffering, which reduces the potential detrimental effects of mutations. We studied whether gene duplication and redundant metabolic networks affec...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng945
更新日期:2002-09-01 00:00:00
abstract::Identifying the genes involved in polygenic traits has been difficult. In the 1950s and 1960s, laboratory selection experiments for extreme geotaxic behavior in fruit flies established for the first time that a complex behavioral trait has a genetic basis. But the specific genes responsible for the behavior have never...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng893
更新日期:2002-08-01 00:00:00
abstract::Pelger-Huët anomaly (PHA; OMIM *169400) is an autosomal dominant disorder characterized by abnormal nuclear shape and chromatin organization in blood granulocytes. Affected individuals show hypolobulated neutrophil nuclei with coarse chromatin. Presumed homozygous individuals have ovoid neutrophil nuclei, as well as v...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng925
更新日期:2002-08-01 00:00:00
abstract::Genetic integrity is crucial to normal cell function, and mutations in genes required for DNA replication and repair underlie various forms of genetic instability and disease, including cancer. One structural feature of intact genomes is runs of homopolymeric dC/dG. Here we describe an unusual mutator phenotype in Cae...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng928
更新日期:2002-08-01 00:00:00
abstract::Urocortin is a member of the corticotropin-releasing hormone peptide family and is found in many discrete brain regions. The distinct expression pattern of urocortin suggests that it influences such behaviors as feeding, anxiety and auditory processing. To better define the physiological roles of urocortin, we have ge...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng914
更新日期:2002-08-01 00:00:00
abstract::Transcription is a slow and expensive process: in eukaryotes, approximately 20 nucleotides can be transcribed per second at the expense of at least two ATP molecules per nucleotide. Thus, at least for highly expressed genes, transcription of long introns, which are particularly common in mammals, is costly. Using data...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng940
更新日期:2002-08-01 00:00:00
abstract::Long interspersed elements (LINE-1s) are abundant retrotransposons in mammalian genomes that probably retrotranspose by target site-primed reverse transcription (TPRT). During TPRT, the LINE-1 endonuclease cleaves genomic DNA, freeing a 3' hydroxyl that serves as a primer for reverse transcription of LINE-1 RNA by LIN...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng898
更新日期:2002-06-01 00:00:00
abstract::Familial hypomagnesemia with secondary hypocalcemia (OMIM 602014) is an autosomal recessive disease that results in electrolyte abnormalities shortly after birth. Affected individuals show severe hypomagnesemia and hypocalcemia, which lead to seizures and tetany. The disorder has been thought to be caused by a defect ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng901
更新日期:2002-06-01 00:00:00
abstract::A layered organization of cells is a common architectural feature of many neuronal formations. Mutations of the zebrafish gene nagie oko (nok) produce a severe disruption of retinal architecture, indicating a key role for this locus in neuronal patterning. We show that nok encodes a membrane-associated guanylate kinas...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng883
更新日期:2002-06-01 00:00:00