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 genomic structure of the mouse gene encoding the CDEBP protein has been established. The protein was initially identified on the basis of its ability to bind the CDEI motif (GTCACATG). The same locus has been independently described under the name APLP2, on the basis of sequence similarities with the Amyloid Precu...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0318
更新日期:1996-07-01 00:00:00
abstract::The human genome contains a group of gene families whose members map within the same regions of chromosomes 1, 6, and 9. The number of gene families involved and their pronounced clustering to the same areas of the genome indicate that their mapping relationship is nonrandom. By combining mapping data and sequence inf...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0328
更新日期:1996-07-01 00:00:00
abstract::The human IGH constant region spans 350 kb and includes nine genes and two pseudogenes. All of the constant region gene cluster has been cloned except for sequences between the IGHD and IGHG3 genes, between the IGHA1 and IGHG2 genes, and the 3' region downstream of the IGHA2 gene. The regions 3' of the IGHA genes, whi...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0338
更新日期:1996-07-01 00:00:00
abstract::The imprinted U2af1-rs1 gene that maps to mouse chromosome 11 is predominately expressed from the paternal allele. We examined the methylation of genomic sequences in and around the U2af1-rs1 locus to establish the extent of sequence modifications that accompanied the silencing of the maternal allele. The analysis of ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0348
更新日期:1996-07-01 00:00:00
abstract::Palmitoyl-protein thioesterase (PPT) is a small glycoprotein that removes palmitate groups from cysteine residues in lipid-modified proteins. We recently reported mutations in PPT in patients with infantile neuronal ceroid lipofuscinosis (INCL), a severe neurodegenerative disorder (J. Vesa et al., 1995, Nature 376: 58...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0292
更新日期:1996-06-15 00:00:00
abstract::The inheritance of obesity has been analyzed in an intercross between the lean 129/Sv mouse strain and the obesity-prone EL/Suz mouse strain. The weights of three major fat pads were determined on 4-month-old mice, and the sum of these weights, divided by body weight, was used as an adiposity index. The strategy of se...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0302
更新日期:1996-06-15 00:00:00
abstract::Sp4H is a semi-dominant mutation that maps to mouse chromosome 1. Heterozygous mice exhibit white spotting of the belly, whereas the fate of the homozygous embryos is unknown. We have previously shown that the entire coding region of the Pax3 gene is deleted in the Sp4H mutant. In this study, we have analyzed the fate...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0267
更新日期:1996-06-01 00:00:00
abstract::Molecular loss of heterozygosity studies on human gliomas have shown several regions on chromosome 10 frequently deleted in higher grade tumors, suggesting that chromosome 10 may contain several tumor suppressor genes. We assessed loss of heterozygosity with microsatellite markers in 20 gliomas, consisting of various ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0277
更新日期:1996-06-01 00:00:00
abstract::The majority of Williams-Beuren syndrome (WBS) patients have been shown to have a microdeletion within 7q11.2 including the elastin gene locus. The extent of these deletions has, however, not been well characterized. Thirty-five deletion patients were tested for all polymorphic markers in the 7q11.2 region bounding EL...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0237
更新日期:1996-05-15 00:00:00
abstract::This work describes a novel method, multiplex solid-phase fluorescent minisequencing, for the simultaneous detection of several point mutations and/or small deletions and insertions. The method is applied to the analysis of mitochondrial DNA polymorphisms for the purposes of individual identification. A database of 15...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0247
更新日期:1996-05-15 00:00:00
abstract::Sulfonation is an important pathway in the biotransformation of many drugs, xenobiotics, neurotransmitters, and steroid hormones. The thermostable (TS) form of phenol sulfotransferase (PST) preferentially catalyzes the sulfonation of "simple" planar phenols, and levels of activity of TS PST in human tissues are contro...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0216
更新日期:1996-05-01 00:00:00
abstract::The mouse gene encoding glial high-affinity, Na+-dependent glutamate transporter Slc1a3 (GluT-1/GLAST) was isolated, and its structural organization was characterized. The gene appeared to exist as a single copy in the mouse genome and comprised 10 exons spanning more than 56 kilobases. The transcription initiation si...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0226
更新日期:1996-05-01 00:00:00
abstract::Regions of DNA homology between human and marmoset (Callithrix jacchus) chromosomes have been demonstrated using fluorescence in situ hybridization. All 24 chromosome paints and two centromere repeat sequences from Homo sapiens (HSA) have been annealed to previously G-banded metaphase spreads of Callithrix jacchus. Al...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0186
更新日期:1996-04-15 00:00:00
abstract::We used targeted exon trapping to clone portions of genes from human chromosome 21q22.3. One trapped sequence showed complete homology with the cDNA of human U2AF35 (M96982; HGM-approved nomenclature U2AF1), which encodes for the small 35-kDa subunit of the U2 snRNP auxiliary factor. Using the U2AF1 cDNA as a probe, w...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0196
更新日期:1996-04-15 00:00:00
abstract::The recently described murine homeobox genes, Six1 and Six2, which are expressed during development in limb tendons, have also been shown to be expressed in skeletal and smooth muscle, respectively. We have cloned and sequenced a human SIX1 cDNA and shown by Northern blotting that it is expressed in adult skeletal mus...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0172
更新日期:1996-04-01 00:00:00
abstract::Whole-cell fusion between zebrafish fibroblast-like ZF4 cells and mouse B78 melanoma cells resulted in hybrids containing one or a few zebrafish chromosome segments in a murine chromosomal background. Fluorescence in situ hybridization to hybrid cell metaphases with a zebrafish genomic DNA probe revealed that many hyb...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0159
更新日期:1996-04-01 00:00:00
abstract::Acidic epididymal glycoprotein (AEG), thus far identified only in rodents, is one of the sperm surface proteins involved in the fusion of the sperm and egg plasma membranes. In the present study, we describe the isolation and characterization of cDNA encoding a human glycoprotein related to AEG. Although this protein,...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0131
更新日期:1996-03-15 00:00:00
abstract::Glutaredoxin is a small protein (12 kDa) catalyzing glutathione-dependent disulfide oxidoreduction reactions in a coupled system with NADPH, GSH, and glutathione reductase. A cDNA encoding the human glutaredoxin gene (HGMW-approved symbol GLRX) has recently been isolated and cloned from a human fetal spleen cDNA libra...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0141
更新日期:1996-03-15 00:00:00
abstract::Positional cloning strategies for the hemochromatosis gene have previously concentrated on a target area restricted to a maximum genomic expanse of 400 kb around the HLA-A and HLA-F loci. Recently, the candidate region has been extended to 2-3 Mb on the distal side of the MHC. In this study, 10 coding sequences [hemoc...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0110
更新日期:1996-03-01 00:00:00
abstract::We have isolated a human cDNA encoding a protein of 334 amino acids that shows 96% identity in amino acid sequence to murine cytosolic malate dehydrogenase. Heart and skeletal muscle expressed this gene most highly among the adult human tissues examined by Northern blot analysis. By fluorescence in situ hybridization,...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0087
更新日期:1996-02-15 00:00:00
abstract::Amyloid beta protein (beta A4), the major component of the core of amyloid plaques in Alzheimer disease, is derived from the transmembrane amyloid precursor proteins (APPs). Our recent studies showed that a murine member of the evolutionarily conserved APP family, amyloid precursor-like protein 1 (APLP1), is specifica...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0096
更新日期:1996-02-15 00:00:00
abstract::The high-affinity receptor for interleukin-11 (IL-11) is composed of two subunits, IL-11 receptor alpha chain (IL-11R alpha) and gp130, the common subunit of the interleukin-6 (IL-6), ciliary neurotrophic factor (CNTF), leukemia inhibitory factor, and oncostatin M receptors. The IL-11 receptor-specific alpha chain sha...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0075
更新日期:1996-02-15 00:00:00
abstract::We have isolated and characterized a novel cDNA coding for a highly hydrophobic protein (B5) from a fetal mouse mandibular condyle cDNA library. The full-length mouse B5 cDNA is 3095 nucleotides long and contains a potential open reading frame coding for a protein of 705 amino acids with a calculated molecular weight ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0051
更新日期:1996-02-01 00:00:00
abstract::We have mapped the mouse protein tyrosine phosphatase epsilon (PTP epsilon, gene symbol Ptpre) gene to the distal region of chromosome 7 by linkage analysis using two sets of multilocus genetic crosses. The human PTP epsilon gene (gene symbol PTPRE) was mapped to chromosome 10q26 by fluorescence in situ hybridization....
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0061
更新日期:1996-02-01 00:00:00
abstract::A simple and rapid strategy for restriction mapping based on sequence-specific triple-helix affinity capture (TAC) was developed. The strategy was applied to the analysis of cosmid clones by the construction of a new cosmid vector, ScosTriplex-II, containing two different triple-helix-forming sequences flanking the cl...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0030
更新日期:1996-01-15 00:00:00
abstract::The ADH7 gene encoding human Class IV (sigma) alcohol dehydrogenase (ADH) was cloned from a Caucasian genomic DNA library and characterized. It has nine exons and eight introns that span about 22 kb, and its intron insertion is identical to that of the other ADH genes (ADH1 to ADH5). The nucleotide sequences of the ex...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0040
更新日期:1996-01-15 00:00:00
abstract::The TLE genes are the human homologues of Drosophila groucho, a member of the Notch signaling pathway. This pathway controls a number of different cell-fate choices in invertebrates and vertebrates. We are interested in investigating the functions of the TLE gene family during epithelial determination and carcinogenes...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0009
更新日期:1996-01-01 00:00:00
abstract::Physical maps of the human genome are being constructed by many groups using a mapping strategy that relies on the development of sequence-tagged sites (STSs). Thousands of physically mapped STSs, representing hundreds of kilobases (kb) of unique human DNA sequence, have been generated by these efforts. Since sequence...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0019
更新日期:1996-01-01 00:00:00
abstract::The use of short tandem repeat polymorphisms (STRPs) as marker loci for linkage analysis is becoming increasingly important due to their large numbers in the human genome and their high degree of polymorphism. Fluorescence-based detection of the STRP pattern with an automated DNA sequencer has improved the efficiency ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1995.1264
更新日期:1995-12-10 00:00:00
abstract::We have produced three lines of transgenic mice that contain additional copies of the mouse phosphoglycerate kinase 1 (Pgk1) gene. Two of these lines, 94-A and 94-K, which are descendants of a common founder, did not produce liveborn progeny carrying two copies of these transgenes (i.e., A/A, K/K, or A/K). Genotyping ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1995.1274
更新日期:1995-12-10 00:00:00
abstract::The alpha 1 subunit genes encoding voltage-dependent Ca2+ channels are members of a gene family. We have used human brain cDNA probes to localize the neuronal isoform genes CACNL1A4 (alpha 1A), CACNL1A5 (alpha 1B), and CACNL1A6 (alpha 1E) to 19p13, 9q34, and 1q25-q31, respectively, using fluorescence in situ hybridiza...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1995.1284
更新日期:1995-12-10 00:00:00
abstract::FAT, a new member of the human cadherin super-family, has been isolated from the T-leukemia cell line J6. The predicted protein closely resembles the Drosophila tumor suppressor fat, which is essential for controlling cell proliferation during Drosophila development. The gene has the potential to encode a large transm...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1995.9884
更新日期:1995-11-20 00:00:00
abstract::Single-pass sequencing of randomly selected cDNA clones to generate expressed sequence tags (ESTs) has been widely used to identify novel genes and to study gene expression in a variety of tissues. We have generated 2244 ESTs from a human fetal heart library (GenBank Accession Nos. R30692-30774 and R56965-58824), whic...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1995.9874
更新日期:1995-11-20 00:00:00
abstract::A mouse inositol polyphosphate 1-phosphatase (Inpp1) cDNA fragment (348 bp) was amplified by means of the polymerase chain reaction using a mouse cDNA library as template with primers designed from published human and bovine cDNA sequences. We isolated a 1623-bp full-length Inpp1 cDNA from a mouse brain cDNA library u...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1995.0030
更新日期:1995-11-20 00:00:00
abstract::The regional assignments of 30 expressed sequence tags (ESTs) on human chromosome 7 were determined by studying the segregation of their PCR-amplified products in a panel of mouse somatic cell hybrids. ESTs are important molecular landmarks for physical mapping and can be considered as tags to candidate genes for gene...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1995.0021
更新日期:1995-11-01 00:00:00
abstract::FISH techniques have opened new possibilities for high-resolution genome mapping. Effective utilization of these techniques for the rapid orientation and ordering of adjacent and overlapping probes as well as for the characterization of long-range genomic contigs would facilitate physical mapping and positional clonin...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1995.0005
更新日期:1995-11-01 00:00:00
abstract::BRF1 (Butyrate response factor 1) is a member of an immediate early gene family specifying putative nuclear transcription factors. A repeat motif incorporating two Cys and two His is highly conserved between family members identified from yeast, Drosophila, mouse, rat, and human. The chromosome localization of none of...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1995.0014
更新日期:1995-11-01 00:00:00
abstract::Genes that encode the vertebrate fibrillar collagen types I-III have previously been shown to share a highly conserved intron/exon organization, thought to reflect common ancestry and evolutionary pressures at the protein level. We report here the complete intron/exon organization of COL5A1, the human gene that encode...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1995.9961
更新日期:1995-10-10 00:00:00
abstract::We have determined the cDNA and genomic structure of a gene (-14 gene) that lies adjacent to the human alpha-globin cluster. Although it is expressed in a wide range of cell lines and tissues, a previously described erythroid-specific regulatory element that controls expression of the alpha-globin genes lies within in...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1995.9951
更新日期:1995-10-10 00:00:00
abstract::The human CBFA2T1 (also known as MTG8) gene, on chromosome 8, has been identified through its involvement in the t(8;21) chromosomal translocation, frequently found in acute myeloid leukemia. We report here the isolation and characterization of the mouse homologue of the CBFA2T1 gene, Cbfa2t1h. Nucleotide sequence ana...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1995.9941
更新日期:1995-10-10 00:00:00