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::High plasma concentrations of apolipoprotein (a) (apo(a)) have been implicated as a major independent risk factor for atherosclerosis in humans. Apo(a) is a large, evolutionarily new gene (present primarily in primates) for which considerable controversy exists concerning the factors that regulate its expression. To i...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0495-424
更新日期:1995-04-01 00:00:00
abstract::We recently mapped the disease locus for severe autosomal recessive lamellar ichthyosis (LI) to chromosome 14q11 and showed complete linkage with TGM1, the gene encoding transglutaminase 1. We have now identified point mutations in TGM1 in two of the multiplex LI families used in the linkage study. Each nucleotide cha...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0395-279
更新日期:1995-03-01 00:00:00
abstract::Ataxia with isolated vitamin E deficiency (AVED) is an autosomal recessive neurodegenerative disease which maps to chromosome 8q13. AVED patients have an impaired ability to incorporate alpha-tocopherol into lipoproteins secreted by the liver, a function putatively attributable to the alpha-tocopherol transfer protein...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0295-141
更新日期:1995-02-01 00:00:00
abstract::Chronic granulomatous disease (CGD) is a recessive disorder characterized by a defective phagocyte respiratory burst oxidase, life-threatening pyogenic infections and inflammatory granulomas. Gene targeting was used to generate mice with a null allele of the gene involved in X-linked CGD, which encodes the 91 kD subun...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0295-202
更新日期:1995-02-01 00:00:00
abstract::The tissue-specific organization of collagen molecules into tridimensional macroaggregates determines the physiomechanical properties of most connective tissues, but the factors and mechanisms controlling this process are unknown. It has been postulated that quantitatively minor types V and XI collagen regulate the gr...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0195-31
更新日期:1995-01-01 00:00:00
abstract::The role of human chromosome 2 in type 1 diabetes was evaluated by analysing linkage and linkage disequilibrium at 21 microsatellite marker loci, using 348 affected sibpair families and 107 simplex families. The microsatellite D2S152 was linked to, and associated with, disease in families from three different populati...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0195-80
更新日期:1995-01-01 00:00:00
abstract::Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked recessive disorder characterized by slowly progressing contractures, wasting of skeletal muscle and cardiomyopathy. Heart block is a frequent cause of death. The disease gene has been mapped to distal Xq28. Among many genes in this region, we selected eight trans...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1294-323
更新日期:1994-12-01 00:00:00
abstract::It is now feasible to map disease genes by screening the genome for linkage disequilibrium between the disease and marker alleles. This report presents the first application of this approach for a previously unmapped locus. A gene for benign recurrent intrahepatic cholestasis (BRIC) was mapped to chromosome 18 by sear...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1294-380
更新日期:1994-12-01 00:00:00
abstract::Jackson-Weiss syndrome is an autosomal dominant condition characterized by craniosynostosis, foot anomalies and great phenotypic variability. Recently mutations in fibroblast growth factor receptor 2 (FGFR2) have been found in patients with another craniosynostotic syndrome, Crouzon syndrome. FGFR2 is a member of the ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1194-275
更新日期:1994-11-01 00:00:00
abstract::To investigate the role of type X collagen in skeletal development, we have generated type X collagen-null mice. Surprisingly, mice without type X collagen were viable and fertile and had no gross abnormalities in long bone growth or development. No differences were detected between the type X collagen-null mice and c...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1094-129
更新日期:1994-10-01 00:00:00
abstract::We have developed a human artificial episomal chromosome (HAEC) system, based on the latent replication origin of the large herpes Epstein-Barr virus, for the propagation and stable maintenance of DNA as circular minichromosomes in human cells. Individual HAECs carried human genomic inserts ranging from 60-330 kb and ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0994-33
更新日期:1994-09-01 00:00:00
abstract::Crouzon syndrome is an autosomal dominant condition causing premature fusion of the cranial sutures (craniosynostosis) and maps to chromosome 10q25-q26. We now present evidence that mutations in the fibroblast growth factor receptor 2 gene (FGFR2) cause Crouzon syndrome. We found SSCP variations in the B exon of FGFR2...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0994-98
更新日期:1994-09-01 00:00:00
abstract::Human synovial sarcomas contain a recurrent and specific chromosomal translocation t(X;18)(p11.2;q11.2). By screening a synovial sarcoma cDNA library with a yeast artificial chromosome spanning the X chromosome breakpoint, we have identified a hybrid transcript that contains 5' sequences (designated SYT) mapping to ch...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0894-502
更新日期:1994-08-01 00:00:00
abstract::MASA syndrome is a recessive X-linked disorder characterized by mental retardation, adducted thumbs, shuffling gait, aphasia and, in some cases, hydrocephalus. Since it has been shown that X-linked hydrocephalus can be caused by mutations in L1CAM, a neuronal cell adhesion molecule, we performed an L1CAM mutation anal...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0794-408
更新日期:1994-07-01 00:00:00
abstract::Congenital myoclonus is a widespread neurologic disorder characterized by hyperexcitability, muscular spasticity and myoclonus associated with marked reduction in neural glycine binding sites. The recessive mouse mutation spastic (spa) is a prototype of inherited myoclonus. Here we show that defects in the gene encodi...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0694-136
更新日期:1994-06-01 00:00:00
abstract::DNA repair defects in the xeroderma pigmentosum (XP) group D complementation group can be associated with the clinical features of two quite different disorders; XP, a sun-sensitive and cancer-prone disorder, or trichothiodystrophy (TTD) which is characterized by sulphur-deficient brittle hair and a variety of other a...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0694-189
更新日期:1994-06-01 00:00:00
abstract::High resolution linkage maps have proven to be invaluable tools in genetic investigations. We have assembled a collection of genetic maps constructed from primary data collected from investigators performing genotyping using the Centre Etude Polymorphism Humain (CEPH) reference pedigree panel. These maps were construc...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0494-391
更新日期:1994-04-01 00:00:00
abstract::Genomic instability at simple repeated sequences (SRS) is a landmark for some sporadic and hereditary cancers of the colon. We have identified several human tumour cell lines with up to 1,000-fold increases in mutation rates for endogenous microsatellite sequences, relative to normal cells or tumour cells without the ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0394-273
更新日期:1994-03-01 00:00:00
abstract::Cervical carcinoma is now known to be associated with human papillomaviruses (HPV), but the evidence for a link with specific HLA loci is controversial. The role of genetic variation at the HLA class II loci and among HPV types in cervical carcinoma was investigated by PCR DNA amplification and oligonucleotide probe t...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0294-157
更新日期:1994-02-01 00:00:00
abstract::Hereditary dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurologic disorder characterized by variable combinations of myoclonus, epilepsy, cerebellar ataxia, choreoathetosis and dementia. By specifically searching published brain cDNA sequences for the presence of CAG repeats we identified uns...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0194-9
更新日期:1994-01-01 00:00:00
abstract::Wilson disease (WD) is an autosomal recessive disorder of copper transport which map to chromosome 13q14.3. In pursuit of the WD gene, we developed yeast artificial chromosome and cosmid contigs, and microsatellite markers which span the WD gene region. Linkage disequilibrium and haplotype analysis of 115 WD families ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1293-338
更新日期:1993-12-01 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::Spinocerebellar ataxia type I (SCAI) is an autosomal dominant neurodegenerative disease caused by the expansion of a CAG trinucleotide repeat on chromosome 6p. Normal alleles range from 19-36 repeats while SCA1 alleles contain 43-81 repeats. We now show that in 63% of paternal transmissions, an increase in repeat numb...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1193-254
更新日期:1993-11-01 00:00:00
abstract::From chromosomal region 17q21.3, where a tumour suppressor gene(s) for breast and ovarian cancers is thought to be present, we have isolated a novel gene from a cosmid clone that revealed somatic rearrangements in two breast cancers. The gene (MDC) encodes a 524-amino acid metalloprotease-like, disintegrin-like and cy...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1093-151
更新日期:1993-10-01 00:00:00
abstract::Charcot-Marie-Tooth disease type 1B (CMT1B) is genetically linked to chromosome 1q21-23. The major peripheral myelin protein gene, P0, has been cloned and localized to the same chromosomal region. P0 is a 28 kDa glycoprotein involved in the compaction of the multilamellar myelin sheet and accounts for more than half o...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0993-35
更新日期:1993-09-01 00:00:00
abstract::Hirschsprung disease (HSCR) is a frequent congenital disorder (1 in 5,000 newborns) of unknown origin characterized by the absence of parasympathetic intrinsic ganglion cells of the hindgut. Taking advantage of a proximal deletion of chromosome 10q (del 10q11.2-q21.2) in a patient with total colonic aganglionosis, and...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0893-346
更新日期:1993-08-01 00:00:00
abstract::Partial exclusion mapping of the nonobese (NOD) diabetic mouse genome has shown linkage of diabetes to at least five different chromosomes. We have now excluded almost all of the genome for the presence of susceptibility genes with fully recessive effects and have obtained evidence of linkage of ten distinct loci to d...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0893-404
更新日期:1993-08-01 00:00:00
abstract::Myotonic dystrophy (DM) results from the amplification of an unstable CTG repeat in the 3' untranslated region of a transcript encoding a putative serine/threonine kinase. We have analysed the amplification of the repeat and the steady state levels of the DM kinase (DMK) mRNA in tissues and cell lines from normal and ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0793-233
更新日期:1993-07-01 00:00:00
abstract::Recent studies have demonstrated that a locus at 11p15.5 confers susceptibility to insulin dependent diabetes mellitus (IDDM). This locus has been shown to lie within a 19 kb region. We present a detailed sequence comparison of the predominant haplotypes found in this region in a population of French Caucasian IDDM pa...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0793-305
更新日期:1993-07-01 00:00:00
abstract::Expansion of trinucleotide repeats can give rise to genetic disease. We have developed a technique, repeat expansion detection (RED), that can identify potentially pathological repeat expansion without prior knowledge of chromosomal location. Human genomic DNA is used as a template for a two-step cycling process that ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0693-135
更新日期:1993-06-01 00:00:00
abstract::Kallmann syndrome is a genetic disorder characterized by a defect in olfactory system development, which appears to be due to an abnormality in the migration of olfactory axons and gonadotropin releasing hormone (Gn-RH) producing neurons. The X-linked Kallmann syndrome gene shares significant similarities with molecul...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0593-19
更新日期:1993-05-01 00:00:00
abstract::Transcription of the 2.5 megabase dystrophin gene gives rise to multiple isoforms. We describe a 5.2 kilobase transcript, expressed specifically in peripheral nerve, that initiates at a previously unrecognized exon located approximately 850 basepairs upstream of dystrophin exon 56. The likely product of this transcrip...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0593-77
更新日期:1993-05-01 00:00:00
abstract::Thomsen's disease (autosomal dominant myotonia congenita) has recently been linked to chromosome 7q35 in the region of the human skeletal muscle chloride channel gene (HUMCLC). Single strand conformation polymorphism analysis (SSCP) was used to screen DNA from members of four unrelated pedigrees with this disorder for...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0493-305
更新日期:1993-04-01 00:00:00
abstract::Holoprosencephaly (HPE) is a developmental field defect involving the brain and face. Cytogenetic deletions in patients with HPE have localized one of the HPE genes to chromosomal region 7q36. We have characterized the 7q deletions in thirteen HPE patients. The result is the construction of a high resolution physical ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0393-247
更新日期:1993-03-01 00:00:00
abstract::During mammalian development, one of the two X chromosomes in female embryos is randomly inactivated in the somatic cell in order to achieve gene dosage compensation. But is X inactivation established simultaneously or is it accomplished over time in a lineage-dependent fashion? We have examined this question in mouse...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0293-170
更新日期:1993-02-01 00:00:00
abstract::The organophosphate cholinesterase inhibitor paraoxon is hydrolysed by serum paraoxonase/arylesterase. A genetic polymorphism of paraoxonase (PON) activity which determines high versus low paraoxon hydrolysis in human populations, may determine sensitivity to parathion poisoning. We demonstrate that arginine at positi...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0193-73
更新日期:1993-01-01 00:00:00
abstract::The vast majority of patients with fragile X syndrome show a folate-sensitive fragile site at Xq27.3 (FRAXA) at the cytogenetic level, and both amplification of the (CGG)n repeat and hypermethylation of the CpG island in the 5' fragile X gene (FMR-1) at the molecular level. We have studied the FMR-1 gene of a patient ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0193-31
更新日期:1993-01-01 00:00:00
abstract::The T-cell receptor (TCR) is composed of two glycoproteins (alpha and beta or gamma and delta) associated with four invariant polypeptides (CD3-gamma, delta, epsilon and zeta). The majority of TCR/CD3 complexes contain six polypeptide chains, and although there is some flexibility in the complex subunit stoichiometry ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0193-77
更新日期:1993-01-01 00:00:00
abstract::Novel approaches to the structural and functional analysis of mammalian chromosomes would be possible if the gross structure of the chromosomes in living cells could be engineered. Controlled modifications can be engineered by conventional targeting techniques based on homologous recombination. Large but uncontrolled ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1292-283
更新日期:1992-12-01 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