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::Human carboxyl ester lipase (CEL) secreted by the pancreas into the duodenum is a glycoprotein playing an essential role in the intestinal processing of cholesterol and lipid-soluble vitamins. The gene encoding CEL was known to contain a tandemly repeated sequence of the 11-amino-acid motif in the C-terminal region. W...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380200027
更新日期:2002-01-01 00:00:00
abstract::The DExH/D-box superfamily of RNA helicases seems to play key roles during RNA metabolism, such as pre-mRNA splicing, ribosome biogenesis, and others. We have cloned a new gene of the DEAH-box protein subgroup, designated DDX40 (DEAD/H-box polypeptide 40 gene). DDX40 contains 3656 nucleotides and codes for a putative ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380200104
更新日期:2002-01-01 00:00:00
abstract::We screened DNAs from 48 Japanese individuals for single-nucleotide polymorphisms (SNPs) in nine genes encoding components of ATP-binding cassette subfamily B (ABCB/MDR/TAP) by directly sequencing the entire applicable genomic regions except for repetitive elements. This approach identified 297 SNPs and 29 insertion/d...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-002-8653-6
更新日期:2002-01-01 00:00:00
abstract::Mirror-image polydactyly of hands and feet (MIP) is a very rare congenital anomaly characterized by mirror-image duplication of digits. To isolate the gene responsible for MIP, we performed translocation breakpoint cloning from an MIP patient with t(2;14)(p23.3;q13). We isolated a good candidate gene for MIP that was ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380200015
更新日期:2002-01-01 00:00:00
abstract::Human Y-chromosomal binary polymorphisms have been considered to preserve the paternal genetic legacy and provide evidence on human evolution and the genetic relationships among and demographic history of different populations. To reveal the genetic origin and immigration of the Fujian Han, 13 binary markers on the Y ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380200008
更新日期:2002-01-01 00:00:00
abstract::Recently, the use of genome-wide linkage disequilibrium (LD) analysis to localize traits has attracted much attention because of the introduction of high-throughput genotyping systems. However, a limitation of such studies is often the total cost of genotyping in addition to sample size. Therefore, it is important to ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380200050
更新日期:2002-01-01 00:00:00
abstract::Homozygosity for the C677T mutation in the methylenetetrahydrofolate reductase ( MTHFR) gene is a risk factor for neural tube defects (NTDs) in many populations, including Italians. Another common mutation on the MTHFR gene, A1298C, has also been described as a risk mutation. Furthermore, several studies have suggeste...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380200043
更新日期:2002-01-01 00:00:00
abstract::Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase (CYP21) gene. More than 90% of CAH cases are caused by mutations of the CYP21 gene. Approximately 75% of the defective CYP21 genes are generated through intergenic recombination, termed ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380200077
更新日期:2002-01-01 00:00:00
abstract::Human minisatellite B6.7 shows extensive allele length and structural variability in north Europeans. We analysed this locus in the Japanese population. Allele size distributions showed that Japanese retain extensive allele length variability but have significantly smaller alleles compared with north Europeans. In con...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380200031
更新日期:2002-01-01 00:00:00
abstract::Intracellular concentrations of the nucleotide inosine triphosphate (ITP) are regulated by ITP-ase (EC 3.6.1.19), which is encoded by ITPA on chromosome 20p. Subjects with complete deficiency of ITP-ase activity (MIM 147520) have elevated ITP concentrations in erythrocytes, but no obvious clinical abnormalities. Based...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380200095
更新日期:2002-01-01 00:00:00
abstract::Osteoprotegerin (OPG), a secreted glycoprotein and a member of the tumor necrosis factor receptor superfamily, is considered to play an important role in the regulation of bone resorption by modifying osteoclast differentiation. Overexpression of OPG in mice has been reported to result in osteopetrosis, whereas target...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380200058
更新日期:2002-01-01 00:00:00
abstract::We report the identification of a loss-of-function -11C>T promoter mutation in the gene encoding the sterol regulatory element binding protein cleavage-activating protein (SCAP). The -11T allele was associated with a marked reduction in promoter activity in a luciferase-based expression system. We also report addition...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380200072
更新日期:2002-01-01 00:00:00
abstract::Mutation analysis of the PDS gene and the EYA1 gene, which are reported to be responsible for hearing loss associated with ear anomalies, was performed in 24 deaf patients with various middle and inner ear anomalies. The present study was done to clarify the spectrum of middle and inner ear malformations covered by th...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380170033
更新日期:2001-01-01 00:00:00
abstract::alpha-1-Antichymotrypsin (ACT) is a plasma protease inhibitor belonging to the serpine superfamily; it has many functions. and thus qualitative change in ACT is likely to result in specific diseases. We previously reported a variant AACT (ACT Isehara-1, Met389Val, A1252G) in patients with ischemic cerebrovascular dise...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380170125
更新日期:2001-01-01 00:00:00
abstract::Adrenomedullin (ADM), a peptide characterized by persistent hypotensive activity, is thought to be involved when the control mechanism of blood pressure is deranged, because its plasma concentration is upregulated in hypertensive patients. The receptor for ADM, a molecular complex consisting of calcitonin-receptor-lik...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380170100
更新日期:2001-01-01 00:00:00
abstract::In this study, the structure of the alpha1-acid glycoprotein (AGP), or orosomucoid (ORM), gene was investigated in a Ghanaian mother and her child, who shared an unusual variant, ORM1 S2(C), found by isoelectric focusing. Three remarkable changes of nucleotide sequence were observed: (1) The two ORM1 alleles, ORMI*S a...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380170023
更新日期:2001-01-01 00:00:00
abstract::We constructed a high-density single-nucleotide polymorphism (SNP) map in the 96-kb region containing the DiGeorge syndrome critical region 2 (DGCR2) gene at chromosome 22q11.2, a human counterpart of mouse seizure-related gene SEZ-12. A total of 102 SNPs were isolated from the region by systematic screening among 48 ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380170029
更新日期:2001-01-01 00:00:00
abstract::We screened the protein-coding region of the peroxisome proliferator-activated receptor alpha gene (PPARA) and the flanking intron sequences for mutations in 57 unrelated Japanese subjects with maturity-onset diabetes of the young (MODY). We found three missense mutations, designated P22R, D140Y, and V227A. The D140Y ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380170080
更新日期:2001-01-01 00:00:00
abstract::Plasma platelet-activating factor acetylhydrolase (PAF-AH) acts as a key defense against oxidative stress by hydrolyzing PAF and oxidized phospholipids. Deficiency of the activity of this enzyme may thus potentially result in predisposition to myocardial damage. The possible role of the G994 (V allele) --> T (F allele...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380170042
更新日期:2001-01-01 00:00:00
abstract::Interleukin (IL11) is a member of the interleukin 6 (IL6)-related cytokine subfamily, which stimulates T cell-dependent development of immunoglobulin-producing B cells. IL11 is also an important paracrine regulator of bone metabolism that induces formation of osteoclasts. In the work reported here, we sequenced the en...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380170052
更新日期:2001-01-01 00:00:00
abstract::To elucidate possible physiological functions of human endogenous retroviruses (HERVs) and their role in the pathogenesis of human diseases, we have developed a strategy to identify transcriptionally active HERV genes. By this approach, we have identified and isolated an active HERV-E gene that was mapped to 17q11. Al...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380170012
更新日期:2001-01-01 00:00:00
abstract::A Polish family was identified in which multifocal clear cell renal carcinoma segregated with a balanced constitutional chromosome translocation, t(2:3)(q33;q21), similar to the renal cell cancer-associated t(2;3)(q35;q21) reported in a Dutch family. Bacterial artificial chromosome (BAC) contigs encompassing the 2q an...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380170001
更新日期:2001-01-01 00:00:00
abstract::A recent association study suggested that the His113 variant of microsomal epoxide hydrolase (mEPHX) may confer a risk for development of emphysema, presumably by increasing susceptibility to smoking injury. Before considering a possible role of this enzyme in pulmonary disease, we attempted to characterize the geneti...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380170116
更新日期:2001-01-01 00:00:00
abstract::Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder that is clinically characterized by cerebellar ataxia and various associated symptoms. The disease is caused by an unstable expansion of the CAG repeat in the MJD gene. This gene is mapped to chromosome 14q32.1. To determine its genomic s...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380170060
更新日期:2001-01-01 00:00:00
abstract::It is well known that individuals with low, or lack of, antibody production in response to hepatitis B surface antigen (HBsAg) exist in the human population. We have previously reported that HLA class I and class II genes are both involved in antibody production to HBsAg, and that specific alleles of HLA are associate...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380170089
更新日期:2001-01-01 00:00:00
abstract::Familial partial lipodystrophy (FPLD) has been shown to be due to mutations in the LMNA gene encoding nuclear lamins A and C, indicating that defective structure of the nuclear envelope can produce this unique phenotype. Some patients with inherited partial lipodystrophy have normal LMNA coding, promoter, and 3'-untra...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380170072
更新日期:2001-01-01 00:00:00
abstract::Site-1 protease (S1P) is a subtilisin-related enzyme that cleaves sterol regulatory element-binding proteins (SREBPs) in the lumen of endoplasmic reticulum, thereby initiating the release of transcriptionally active NH2-terminal fragments of SREBPs from membranes. In the experiments reported here, we localized the hum...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380070029
更新日期:2000-01-01 00:00:00
abstract::Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease caused by a decreased activity of hydroxymethylbilane synthase (HMBS). Regarding the abnormalities of the HMBS gene, many different mutations have been reported worldwide; however, few families from Japan have been studied. In this work, we ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380070038
更新日期:2000-01-01 00:00:00
abstract::Factors predisposing to the phenotypic features of familial combined hyperlipidemia have not been clearly defined. In the course of investigating familial coronary artery disease in Utah, we identified a three-generation family in which multiple members were affected with type IIa hyperlipoproteinemia (HLP IIa), type ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380050202
更新日期:2000-01-01 00:00:00
abstract::Although large deletions in the dystrophin gene have been identified in more than two-thirds of Duchenne and Becker muscular dystrophy patients, the molecular mechanisms that lead to the generation of these deletions are largely unknown. Here, Alu and LINE-1 (L1) repetitive elements were shown to be present at one or ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380070003
更新日期:2000-01-01 00:00:00
abstract::A full-length cDNA encoding a novel protein was isolated and sequenced from a human placental cDNA library. This cDNA consists of 1,735 base pairs and has a predicted open reading frame (ORF) encoding 354 amino acids. It possesses a putative signal sequence, a long extracellular domain, a transmembrane region, a short...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380070013
更新日期:2000-01-01 00:00:00
abstract::A-kinase anchoring protein 95 (AKAP95) is a nuclear protein which binds to the regulatory subunit (RII) of cyclic adenosine monophosphate (cAMP)-dependent protein kinase (PKA) and to DNA. A novel nuclear human gene which shares sequence homology with the human AKAP95 gene was identified by a nuclear transportation tra...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380070040
更新日期:2000-01-01 00:00:00
abstract::We found a novel A-->C change in codon 511 of the ARNT gene, which predicted the substitution of Asn (AAC) for Asp (GAC) at this position. Amplification using mismatched primers allowed the ARNT D/N511 polymorphism to be detected by digestion with endonuclease Tth111I. The frequency of the ARNT N511 allele was 0.019 i...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380050018
更新日期:2000-01-01 00:00:00
abstract::We determined the genomic structure of the human gene encoding 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase, which catalyzes the conversion of HMG-CoA to mevalonate and is the rate-limiting and major regulatory enzyme in sterol biosynthesis. The gene is more than 21 kb long, about five times the size of i...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380070017
更新日期:2000-01-01 00:00:00
abstract::Since adducin modulates cellular sodium retention, its follows that ADD1, which encodes the alpha-subunit of adducin, is an attractive candidate gene for blood pressure variation. Association studies examining the relationship between polymorphism at ADD1 codon 460 (G460W) and both hypertension and blood pressure, whi...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380050148
更新日期:1999-01-01 00:00:00
abstract::A novel single base-pair polymorphism, G/A at ntd 955, was identified within the coding region of the glutamate dehydrogenase gene (GLUD1). This polymorphism should prove useful for the study of human disorders with altered ammonia and/or blood glucose levels. ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380050158
更新日期:1999-01-01 00:00:00
abstract::Two-color fluorescence in situ hybridization (FISH) analysis using human chromosome arm-specific telomeric probes (telomeric probes) was used successfully to detect each derivative chromosome of a translocation carrier in five couples who requested a prenatal diagnosis in future pregnancies. Most of the human chromoso...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380050115
更新日期:1999-01-01 00:00:00
abstract::The transcriptional factor nuclear factor kappa-beta (NFKB) consists of a multicomponent protein complex that plays a major role in the regulation of many viral and cellular genes. The NFKB complex has two alternative DNA binding subunits. We isolated a polymorphic dinucleotide (CA) repeat sequence from a genomic clon...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380050125
更新日期:1999-01-01 00:00:00
abstract::We determined polymorphism in the serotonin (5-HT) transporter gene-linked polymorphic region (5-HTTLPR) in 501 healthy Japanese, individuals, using the polymerase chain reaction of Lesch et al., with minor modifications. The distribution of allele frequencies was determined and found to differ from that in Caucasians...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380050098
更新日期:1999-01-01 00:00:00
abstract::The mechanism of speciation has remained largely unresolved, and hominoid evolutionary history based on chromosome rearrangements has been continuously challenged. The recent availability of the human-derived chromosome 1-specific midisatellite (D1Z2) and chromosome X-specific macrosatellite (DXZ4) DNA sequence probes...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380050108
更新日期:1999-01-01 00:00:00