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::Recent studies of human oocytes have demonstrated an enrichment for distal exchanges among meiosis I (MI) nondisjunction events and for proximal exchanges among meiosis II (MII) events. Our characterization of 103 cases of spontaneous X chromosome nondisjunction in Drosophila oocytes strongly parallels these observati...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1296-406
更新日期:1996-12-01 00:00:00
abstract::The syndrome of hyperactivity describes behavioural disorders existing mainly in children and characterized by increased levels of motor activity, inattention and impulsivity. Overall the aetiology is poorly understood due to the heterogeneity of the pathology although psychological, biological and social factors acti...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1296-471
更新日期:1996-12-01 00:00:00
abstract::Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by hypopigmentation, severe immunologic deficiency with neutropenia and lack of natural killer (NK) cells, a bleeding tendency and neurologic abnormalities. Most patients die in childhood. The CHS hallmark is the occurrence of giant i...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1196-307
更新日期:1996-11-01 00:00:00
abstract::The GM2 gangliosidoses, Tay-Sachs and Sandhoff diseases, are caused by mutations in the HEXA (alpha-subunit) and HEXB (beta-subunit) genes, respectively. Each gene encodes a subunit for the heterodimeric lysosomal enzyme, beta-hexosaminidase A (alpha beta), as well as for the homodimers beta-hexosaminidase B (beta bet...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1196-348
更新日期:1996-11-01 00:00:00
abstract::Three hundred million individuals are at risk of infection by schistosomes and around 200,000 die each year of this disease. Severe clinical disease in schistosomiasis is often the consequence of heavy infection which, in several endemic areas, are determined largely by the susceptibility/resistance of individuals. Pr...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1096-181
更新日期:1996-10-01 00:00:00
abstract::The morphogenesis of the brain and the differentiation of the neural structures are highly complex processes. A series of temporally and spatially regulated morphogenetic events gives rise to smaller areas that are phylogenetically, functionally and often morphogenetically different. Candidate genes for positional inf...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1096-218
更新日期:1996-10-01 00:00:00
abstract::The apolipoprotein E (APOE) E4 allele is associated with Alzheimer's disease, cardiovascular disease, and decreased longevity. To probe the mechanism of these associations, cell lines were created which secrete each apoE isoform. ApoE conditioned media, purified apoE, and commercially obtained apoE protected B12 cells...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0996-55
更新日期:1996-09-01 00:00:00
abstract::Normal mammalian development requires a diploid combination of both haploid parental genomes. Uniparental disomy for certain segments of specific chromosomes results in aberrant development or prenatal lethality, indicating that the parental genomes have undergone modifications during gametogenesis. These modification...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0996-106
更新日期:1996-09-01 00:00:00
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, s...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0896-450
更新日期:1996-08-01 00:00:00
abstract::Beare-Stevenson cutis gyrata syndrome (MIM 123790) is an autosomal dominant condition characterized by the furrowed skin disorder of cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities and early death. Many of these features are char...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0896-492
更新日期:1996-08-01 00:00:00
abstract::Protein tyrosine phosphorylation plays a key role in regulating eukaryotic cell proliferation and differentiation. Genetic analysis in invertebrates has been invaluable for dissecting the signalling events downstream of receptor tyrosine kinases (RTKs). We have used this approach in mammals to analyse the interactions...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0796-309
更新日期:1996-07-01 00:00:00
abstract::Integrins are heterodimeric transmembrane glycoproteins which are engaged in a variety of cellular functions, such as adhesion, migration and differentiation1. The integrin alpha 6 beta 4 is expressed on squamous epithelia, on subsets of endothelial cells, immature thymocytes and on Schwann cells and fibroblasts in th...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0796-366
更新日期:1996-07-01 00:00:00
abstract::In a study of human diversity at a highly variable locus, we have mapped the internal structures of tandem-repetitive alleles from different populations at the minisatellite MS205 (D16S309). The results give an unusually detailed view of the different allelic structures represented on modern human chromosomes, and of ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0696-154
更新日期:1996-06-01 00:00:00
abstract::Human Menkes disease and the murine Mottled phenotype are X-linked diseases that result from copper deficiency due to mutations in a copper-effluxing ATPase, designated ATP7A. Male mice with the Mottled-Brindled allele (Mo-brJ) accumulate copper in the intestine, fail to export copper to peripheral organs and die a fe...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0696-219
更新日期:1996-06-01 00:00:00
abstract::The hereditary breast cancer gene BRCA2 was recently cloned and is believed to account for almost half of site-specific breast cancer families and the majority of male breast cancer families. We screened 49 site-specific breast cancer families for mutations in the BRCA2 gene using single strand conformation analysis (...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0596-120
更新日期:1996-05-01 00:00:00
abstract::Evolutionary theory predicts substantial interspecific and intraspecific differences in the proximal mechanisms of ageing. Our goal here is to seek evidence for common ('public') mechanisms among diverse organisms amenable to genetic analysis. Oxidative damage is a candidate for such a public mechanism of ageing. Long...
journal_title:Nature genetics
pub_type: 杂志文章,评审
doi:10.1038/ng0596-25
更新日期:1996-05-01 00:00:00
abstract::The Syrian cardiomyopathic hamster (BIO14.6) has an inherited form of progressive myocardial necrosis and congestive heart failure. Although widely studied as an animal model for human hypertrophic cardiomyopathy, further genetic analysis has been limited by a scarcity of DNA markers. Until now, only six autosomal lin...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0596-87
更新日期:1996-05-01 00:00:00
abstract::Ocular retardation (or) is a murine eye mutation causing microphthalmia, a thin hypocellular retina and optic nerve aplasia. Here we show that mice carrying the OrJ allele have a premature stop codon in the homeobox of the Chx10 gene, a gene expressed at high levels in uncommitted retinal progenitor cells and mature b...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0496-376
更新日期:1996-04-01 00:00:00
abstract::The most characteristic features of bipolar affective disorder (manic-depressive illness) are episodes of mania (bipolar I, BPI) or hypomania (bipolar II, BPII) interspersed with periods of depression. Manic-depressive illness afflicts about one percent of the population, and if untreated, is associated with an approx...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0496-431
更新日期:1996-04-01 00:00:00
abstract::The Charcot-Marie Tooth disease type 1A (CMT1A) duplication and hereditary neuropathy with liability to pressure palsies (HNPP) deletion are reciprocal products of an unequal crossing-over event between misaligned flanking CMT1A-REP repeats. The molecular aetiology of this apparently homologous recombination event was...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0396-288
更新日期:1996-03-01 00:00:00
abstract::Breast carcinoma is the most common malignancy among women in developed countries. Because family history remains the strongest single predictor of breast cancer risk, attention has focused on the role of highly penetrant, dominantly inherited genes in cancer-prone kindreds (1). BRCA1 was localized to chromosome 17 th...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0396-333
更新日期:1996-03-01 00:00:00
abstract::The Ras signal transduction pathway is often deregulated in human myeloid leukaemia. For example, activating point mutations in RAS genes are found in some patients with juvenile chronic myelogenous leukaemia (JCML), while other patients with JCML show loss of the neurofibromatosis type 1 (NF1) gene, a Ras GTPase acti...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0296-137
更新日期:1996-02-01 00:00:00
abstract::Acute intermittent porphyria (AIP) is a human disease resulting from a dominantly inherited partial deficiency of the heme biosynthetic enzyme, porphobilinogen deaminase (PBGD). The frequency of the trait for AIP is 1/10,000 in most populations, but may be markedly higher (1/500) in psychiatric patients. The clinical ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0296-195
更新日期:1996-02-01 00:00:00
abstract::Hypertension, diabetes and hyperlipidemia are risk factors for life-threatening complications such as end-stage renal disease, coronary artery disease and stroke. Why some patients develop complications is unclear, but only susceptibility genes may be involved. To test this notion, we studied crosses involving the faw...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0196-44
更新日期:1996-01-01 00:00:00
abstract::As genetic marker maps have improved, multipoint linkage analysis has become a crucial part of all disease mapping studies. Paradoxically, multipoint lod scores become increasingly difficult to compute, particularly as the numbers of markers, marker alleles and untyped people increase. We have solved this problem by u...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1295-402
更新日期:1995-12-01 00:00:00
abstract::White sponge nevus (WSN) is a benign autosomal dominant disorder which affects non-cornifying stratified squamous epithelia (MIM 193900) (ref. 1). Phenotypically it presents as white 'spongy' plaques (oral leukokeratoses), most commonly in the mouth but also reported in the esophagus and anogenital mucosa. Histologica...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1295-450
更新日期:1995-12-01 00:00:00
abstract::Peripheral myelin protein PMP22 has been suggested to have a role in peripheral nerve myelination and cell proliferation. Defects at the PMP22 locus are associated with peripheral neuropathies such as Charcot-Marie-Tooth disease type 1A. We now demonstrate that mice devoid of Pmp22 are retarded in the onset of myelina...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1195-274
更新日期:1995-11-01 00:00:00
abstract::The degree to which genetic factors influence human intelligence remains a matter of some controversy. However, there is little doubt that single gene mutations can significantly alter brain development and function. For example, mutations affecting the FMR1 gene cause the fragile X syndrome, the most prevalent known ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1195-331
更新日期:1995-11-01 00:00:00
abstract::Hereditary multiple exostoses is an autosomal dominant disorder that is characterized by short stature and multiple, benign bone tumours. In a majority of families, the genetic defect (EXT1) is linked to the Langer-Giedion syndrome chromosomal region in 8q24.1. From this region we have cloned and characterized a cDNA ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1095-137
更新日期:1995-10-01 00:00:00
abstract::Epilepsy affects at least 2% of the population at some time in their lives. The epilepsies are a heterogeneous group of disorders, many with an inherited component. Although specific genes have been identified in a few rare diseases causing seizures as part of a more diffuse brain disorder, the molecular pathology of ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1095-201
更新日期:1995-10-01 00:00:00
abstract::Junctional epidermolysis bullosa (JEB) is a heterogeneous autosomal recessively inherited blistering skin disorder associated with fragility at the dermal-epidermal junction. Characteristic ultrastructural findings in JEB are abnormalities in the hemidesmosome-anchoring filament complexes. These focal attachment struc...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0995-83
更新日期:1995-09-01 00:00:00
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
更新日期:1995-08-01 00:00:00
abstract::Nearly all cases of fragile X syndrome result from expansion of a CGG trinucleotide repeat found in the 5' untranslated portion of the FMR1 gene. Methylation of the expanded repeats correlates with down-regulation of transcription of FMR1; thus fragile X syndrome is postulated to be due to a loss of function of the FM...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0895-483
更新日期:1995-08-01 00:00:00
abstract::We have found that the imprinted H19 gene can be expressed either biallelically or monoallelically in the developing human placentae. H19 biallelic expression is confined to the placenta until 10 weeks of gestation, after which it becomes exclusively maternal, and does not affect allele-specificity or levels of IGF2 e...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0795-318
更新日期:1995-07-01 00:00:00
abstract::Characterization of the polycystic kidney disease 1 (PKD1) gene has been complicated by genomic rearrangements on chromosome 16. We have used an exon linking strategy, taking RNA from a cell line containing PKD1 but not the duplicate loci, to clone a cDNA contig of the entire transcript. The transcript consists of 14,...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0695-151
更新日期:1995-06-01 00:00:00
abstract::The mRNA for the Duffy blood group antigen, the erythrocyte receptor for the Plasmodium vivax malaria parasite, has recently been cloned and shown to encode a widely expressed chemokine receptor. Here, we show that the Duffy antigen/chemokine receptor gene (DARC) is composed of a single exon and that most Duffy-negati...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0695-224
更新日期:1995-06-01 00:00:00
abstract::Cell division is controlled by a series of positive and negative regulators which act at sequential points throughout the cell cycle. Disturbance of these checks could contribute to cancer by allowing excessive cell proliferation. The point in G1 at which cells irrevocably commit to DNA synthesis is controlled by prot...
journal_title:Nature genetics
pub_type: 信件
doi:10.1038/ng0595-114
更新日期:1995-05-01 00:00:00
abstract::We have investigated the pathogenetic mechanism of the mitochondrial tRNA(Lys) gene mutation (position 8344) associated with MERRF encephalomyopathy in several mitochondrial DNA (mtDNA)-less cell transformants carrying the mutation and in control cells. A decrease of 50-60% in the specific tRNA(Lys) aminoacylation cap...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0595-47
更新日期:1995-05-01 00:00:00
abstract::Lung disease is the major cause of death in cystic fibrosis (CF), but there is no evidence for overt lung involvement at birth. We show here that the same is true for the gene targeted cftrm1HGU mutant mouse. Furthermore, this CF mouse model demonstrates an impaired capacity to clear Staphylococcus aureus and Burkhold...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0495-351
更新日期:1995-04-01 00:00:00
abstract::Paired box (PAX) genes play a critical role in human development and disease. The PAX2 gene is expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system. We have conducted a mutational analysis of PAX2 in a family with optic nerve colobomas, renal hypoplasia, mild proteinuria and vesicour...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0495-358
更新日期:1995-04-01 00:00:00