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::Hearing impairment is the most commonly occurring condition that affects the ability of humans to communicate. More than 50% of the cases of profound early-onset deafness are caused by genetic factors. Over 40 loci for non-syndromic deafness have been genetically mapped, and mutations in several genes have been shown ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/3845
更新日期:1998-12-01 00:00:00
abstract::The progressive familial intrahepatic cholestases (PFIC) are a group of inherited disorders with severe cholestatic liver disease from early infancy. A subgroup characterized by normal serum cholesterol and gamma-glutamyltranspeptidase (gammaGT) levels is genetically heterogeneous with loci on chromosomes 2q (PFIC2) a...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/3034
更新日期:1998-11-01 00:00:00
abstract::Retrotransposition affects genome structure by increasing repetition and producing insertional mutations. Dispersion of the retrotransposon L1 throughout mammalian genomes suggests that L1 activity might be an important evolutionary force. Here we report that L1 retrotransposition contributes to rapid genome evolution...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/3104
更新日期:1998-11-01 00:00:00
abstract::Lafora's disease (LD; OMIM 254780) is an autosomal recessive form of progressive myoclonus epilepsy characterized by seizures and cumulative neurological deterioration. Onset occurs during late childhood and usually results in death within ten years of the first symptoms. With few exceptions, patients follow a homogen...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/2470
更新日期:1998-10-01 00:00:00
abstract::All molybdoenzymes other than nitrogenase require molybdopterin as a metal-binding cofactor. Several genes necessary for the synthesis of the molybdenum cofactor (MoCo) have been characterized in bacteria and plants. The proteins encoded by the Escherichia coli genes moaA and moaC catalyse the first steps in MoCo synt...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/1706
更新日期:1998-09-01 00:00:00
abstract::Desmin-related myopathies (DRM) are inherited neuromuscular disorders characterized by adult onset and delayed accumulation of aggregates of desmin, a protein belonging to the type III intermediate filament family, in the sarcoplasma of skeletal and cardiac muscles. In this paper, we have mapped the locus for DRM in a...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/1765
更新日期:1998-09-01 00:00:00
abstract::The initiation of DNA replication involves a minimum of four factors: a specific DNA sequence (origin), an initiator protein which binds to the origin, a helicase that unwinds the origin and a protein that binds single-stranded DNA that stabilizes the unwound origin. In eukaryotic cells, the origin recognition complex...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/1263
更新日期:1998-08-01 00:00:00
abstract::X-linked congenital stationary night blindness (CSNB) is a recessive non-progressive retinal disorder characterized by night blindness, decreased visual acuity, myopia, nystagmus and strabismus. Two distinct clinical entities of X-linked CSNB have been proposed. Patients with complete CSNB show moderate to severe myop...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/947
更新日期:1998-07-01 00:00:00
abstract::It is generally assumed that the male:female (M:F) ratio in patients with type 1 (insulin-dependent) diabetes mellitus (IDDM) is 1. A recent survey, however, revealed that high incidence countries (mainly European) have a high M:F ratio and low incidence ones (Asian and African) have a low M:F ratio. We have now analy...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/995
更新日期:1998-07-01 00:00:00
abstract::Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by expansion of a polyglutamine tract in ataxin-1. In affected neurons of SCA1 patients and transgenic mice, mutant ataxin-1 accumulates in a single, ubiquitin-positive nuclear inclusion. In this study, we show that these i...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/502
更新日期:1998-06-01 00:00:00
abstract::Heritable inactivation of specific regions of the genome is a widespread, possibly universal phenomenon for gene regulation in eukaryotes. Self-perpetuating, clonally inherited chromatin structure has been proposed as the explanation for such phenomena as position-effect variegation (PEV) and control of segment determ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/566
更新日期:1998-06-01 00:00:00
abstract::The tectorial membrane is an extracellular matrix of the inner ear that contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia, and leads to fluctuations in hair-cell membrane potential, transducing sou...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0598-60
更新日期:1998-05-01 00:00:00
abstract::Size at birth is an important determinant of perinatal survival and has also been associated with the risk for cardiovascular disease and type 2 diabetes in adult life. Common genetic variation that regulates fetal growth could therefore influence perinatal survival and predispose to the development of adult disease. ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0598-98
更新日期:1998-05-01 00:00:00
abstract::Limb-girdle muscular dystrophy (LGMD) is a clinically and genetically heterogeneous group of myopathies, including autosomal dominant and recessive forms. To date, two autosomal dominant forms have been recognized: LGMD1A, linked to chromosome 5q, and LGMD1B, associated with cardiac defects and linked to chromosome 1q...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0498-365
更新日期:1998-04-01 00:00:00
abstract::The basic helix-loop-helix (bHLH) transcription factors, Hand1 and Hand2 (refs 1,2), also called eHand/Hxt/Thing1 and dHand/Hed/Thing2 (refs 3,4), respectively, are expressed in the heart and certain neural-crest derivatives during embryogenesis. In addition, Hand1 is expressed in extraembryonic membranes, whereas Han...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0398-266
更新日期:1998-03-01 00:00:00
abstract::Acute promyelocytic leukaemia (APL), associated with chromosomal translocations involving the retinoic acid receptor alpha gene (RARA) and the PML gene, is sensitive to retinoic acid (RA) treatment, while APL patients harbouring translocations between RARA and the PLZF gene do not respond to RA. We have generated PML-...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0298-126
更新日期:1998-02-01 00:00:00
abstract::A recessive mutation in the tub gene causes obesity, deafness and retinal degeneration in tubby mice. The tub gene is a member of a family of tubby-like genes (TULPs) that encode proteins of unknown function. Members of this family have been identified in plants, vertebrates and invertebrates. The TULP proteins share ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0298-174
更新日期:1998-02-01 00:00:00
abstract::Epileptic disorders affect about 20-40 million people worldwide, and 40% of these are idiopathic generalized epilepsies (IGEs; ref. 1). Most of the IGEs that are inherited are complex, multigenic diseases. To address basic mechanisms for epilepsies, we have focused on one well-defined class of IGEs with an autosomal-d...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0198-53
更新日期:1998-01-01 00:00:00
abstract::Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is the only described systemic autoimmune disease with established monogenic background, and the first autoimmune disorder localized outside the major histocompatibility complex (MHC) region. The primary biochemical defect in APECED is unknown. We...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1297-399
更新日期:1997-12-01 00:00:00
abstract::ATM is a member of the phosphatidylinositol 3-kinase (PIK)-like kinases, some of which are active in regulating DNA damage-induced mitotic cell-cycle checkpoints. ATM also plays a role in meiosis. Spermatogenesis in Atm-/- male mice is disrupted, with chromosome fragmentation leading to meiotic arrest; in human patien...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1297-457
更新日期:1997-12-01 00:00:00
abstract::The maintenance of chromosome termini, or telomeres, requires the action of the enzyme telomerase, as conventional DNA polymerases cannot fully replicate the ends of linear molecules. Telomerase is expressed and telomere length is maintained in human germ cells and the great majority of primary human tumours. However,...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1297-498
更新日期:1997-12-01 00:00:00
abstract::Congenic breeding strategies are becoming increasingly important as a greater number of complex trait linkages are identified. Traditionally, the development of a congenic strain has been a time-consuming endeavour, requiring ten generations of backcrosses. The recent advent of a dense molecular genetic map of the mou...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1197-280
更新日期:1997-11-01 00:00:00
abstract::Family, twin and adoption studies provide evidence for a substantial genetic component underlying individual differences in general intelligence, specific cognitive abilities and susceptibility to psychopathologies related to fear-inducing events. Contextual fear conditioning, which is highly conserved across species,...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1197-331
更新日期:1997-11-01 00:00:00
abstract::Refsum disease is an autosomal-recessively inherited disorder characterized clinically by a tetrad of abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells in the CSF. All patients exhibit ac...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1097-190
更新日期:1997-10-01 00:00:00
abstract::Human telomeres are composed of long arrays of TTAGGG repeats that form a nucleoprotein complex required for the protection and replication of chromosome ends. One component of human telomeres is the TTAGGG repeat binding factor 1 (TRF1), a ubiquitously expressed protein, related to the protooncogene Myb, that is pres...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1097-231
更新日期:1997-10-01 00:00:00
abstract::An exceptional muscle development commonly referred to as 'double-muscled' (Fig. 1) has been seen in several cattle breeds and has attracted considerable attention from beef producers. Double-muscled animals are characterized by an increase in muscle mass of about 20%, due to general skeletal-muscle hyperplasia-that i...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0997-71
更新日期:1997-09-01 00:00:00
abstract::The mutator hypothesis of tumorigenesis suggests that loss of chromosomal stability or maintenance functions results in elevated mutation rates, leading to the accumulation of the numerous mutations required for multistep carcinogenesis. The human DNA mismatch repair (MMR) genes are highly conserved homologues of the ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0997-114
更新日期:1997-09-01 00:00:00
abstract::Friedreich's ataxia is due to loss of function mutations in the gene encoding frataxin (FRDA). Frataxin is a protein of unknown function. In situ hybridization analyses revealed that mouse frataxin expression correlates well with the main site of neurodegeneration, but the expression pattern is broader than expected f...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0897-345
更新日期:1997-08-01 00:00:00
abstract::1 alpha,25-Dihydroxyvitamin D3[1 alpha,25(OH)2D3], an active form of vitamin D, has roles in many biological phenomena such as calcium homeostasis and bone formation, which are thought to be mediated by the 1 alpha,25(OH)2D3 receptor (VDR), a member of the nuclear hormone receptor superfamily. However, the molecular b...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0897-391
更新日期:1997-08-01 00:00:00
abstract::Methylation of cytosines within the sequence CpG is essential for mouse development and has been linked to transcriptional suppression in vertebrate systems. Methyl-CpG binding proteins (MeCPs) 1 and 2 bind preferentially to methylated DNA and can inhibit transcription. The gene for MeCP2 has been cloned and a methyl-...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0797-256
更新日期:1997-07-01 00:00:00
abstract::Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characterized by hypoplastic or absent clavicles, large fontanelles, dental anomalies and delayed skeletal development. The phenotype is suggestive of a generalized defect in ossification and is one of the most common skeletal dysplasias not associated wi...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0797-307
更新日期:1997-07-01 00:00:00
abstract::Autosomal dominant polycystic kidney disease (ADPKD) describes a group of at least three genetically distinct disorders with almost identical clinical features that collectively affects 1:1,000 of the population. Affected individuals typically develop large cystic kidneys and approximately one half develop end-stage r...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0697-179
更新日期:1997-06-01 00:00:00
abstract::The world's great wines are produced from a relatively small number of classic European cultivars of Vitis vinifera L Most are thought to be centuries old and their origins have long been the subject of speculation. Among the most prominent of these cultivars is Cabernet Sauvignon, described as "the world's most renow...
journal_title:Nature genetics
pub_type: 历史文章,杂志文章
doi:10.1038/ng0597-84
更新日期:1997-05-01 00:00:00
abstract::The rate and pattern of sequence substitutions in the mitochondrial DNA (mtDNA) control region (CR) is of central importance to studies of human evolution and to forensic identity testing. Here, we report a direct measurement of the intergenerational substitution rate in the human CR. We compared DNA sequences of two ...
journal_title:Nature genetics
pub_type: 杂志文章,多中心研究
doi:10.1038/ng0497-363
更新日期:1997-04-01 00:00:00
abstract::Obesity is a major predisposing factor for the development of several chronic diseases including non-insulin dependent diabetes mellitus (NIDDM) and coronary heart disease (CHD). Leptin is a serum protein which is secreted by adipocytes and thought to play a role in the regulation of body fat. Leptin levels in humans ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0397-273
更新日期:1997-03-01 00:00:00
abstract::Sialidase (neuraminidase, EC 3.2.1.18) catalyses the hydrolysis of terminal sialic acid residues of glyconjugates. Sialidase has been well studied in viruses and bacteria where it destroys the sialic acid-containing receptors at the surface of host cells, and mobilizes bacterial nutrients. In mammals, three types of s...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0397-316
更新日期:1997-03-01 00:00:00
abstract::A candidate gene for Branchio-Oto-Renal (BOR) syndrome was identified at chromosome 8q13.3 by positional cloning and shown to underlie the disease. This gene is a human homologue of the Drosophila eyes absent gene (eya), and was therefore called EYA1. A highly conserved 271-amino acid C-terminal region was also found ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0297-157
更新日期:1997-02-01 00:00:00
abstract::Follicle stimulating hormone (FSH) is a member of the glycoprotein hormone family that includes luteinzing hormone (LH), thyroid stimulating hormone, and chorionic gonadotropin. These heterodimeric hormones share a common alpha subunit and differ in their hormone-specific beta subunit. The biological activity is confe...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0297-201
更新日期:1997-02-01 00:00:00
abstract::A polymorphic CAG repeat was identified in the human alpha 1A voltage-dependent calcium channel subunit. To test the hypothesis that expansion of this CAG repeat could be the cause of an inherited progressive ataxia, we genotyped a large number of unrelated controls and ataxia patients. Eight unrelated patients with l...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0197-62
更新日期:1997-01-01 00:00:00
abstract::The homeodomain protein IPF1 (also known as IDX1, STF1 and PDX1; see Methods) is critical for development of the pancreas in mice and is a key factor for the regulation of the insulin gene in the beta-cells of the endocrine pancreas. Targeted disruption of the Ipf1 gene encoding IPF1 in transgenic mice results in a fa...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0197-106
更新日期:1997-01-01 00:00:00