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::We show a mute 9.1-kb gap in the human genome reference map, unraveled by RDA studies, to be a worldwide deletion/insertion polymorphism of stable type. The molecular and population data presented suggest its origin from a unique ancestral transposition event in chromosomal region 22q11.2, overlapping the IglambdaV ge...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2002.7014
更新日期:2002-12-01 00:00:00
abstract::A significant fraction of the human genome is composed of various types of transposable elements, which are divided into two broad classes based on their mehcanism of transposition: via an RNA intermediate (retroelements) or via a DNA intermediate (DNA transposons). The retroelements, which include endogenous retrovir...
journal_title:Genomics
pub_type: 杂志文章
doi:
更新日期:2002-11-01 00:00:00
abstract::The region of the dystrophin gene containing introns 45-50 is characterized by a high rate of recombination events that give rise to large deletions causing dystrophinopathy. The nucleotide sequence of this intronic region has recently been released in GenBank. With the aim of further understanding the mechanism favor...
journal_title:Genomics
pub_type: 杂志文章
doi:
更新日期:2002-11-01 00:00:00
abstract::The Gnas locus is highly complex and encodes several oppositely imprinted and alternatively spliced transcripts. Gnas itself encodes Gsalpha, which is involved in endocrine function and bone development, but the roles for the other transcripts have not been established. Here we describe a mouse mutation that provides ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2002.6842
更新日期:2002-10-01 00:00:00
abstract::Loss of heterozygosity (LOH) of chromosome 16q24.3 is a common genetic alteration observed in invasive ductal and lobular breast carcinomas. We constructed a physical map and generated genomic DNA sequence data spanning 2.4 Mb in this region. Detailed in silico and in vitro analyses of the genomic sequence data enable...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2002.6828
更新日期:2002-09-01 00:00:00
abstract::We mapped a new X-linked recessive atrophic macular degeneration locus to Xp21.1-p11.4 and show allelic involvement of the gene RPGR, which normally causes severe peripheral retinal degeneration leading to global blindness. Ten affected males whom we examined had primarily macular atrophy causing progressive loss of v...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2002.6815
更新日期:2002-08-01 00:00:00
abstract::The cerebral cortex is a tissue with a high degree of neuronal diversity. It consists of six cell layers with a unique set of neuronal subtypes. A crucial step in the process of cortical differentiation is the transition from a mitotically active neuroblast to a postmitotic young neuron. To identify genes involved in ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2002.6796
更新日期:2002-07-01 00:00:00
abstract::Lymphocyte antigen-6 (LY-6) superfamily members are cysteine-rich, generally GPI-anchored cell surface proteins, which have definite or putative immune related roles. A cluster of five potential LY-6 superfamily members is located in the human and mouse major histocompatibility complex class III region. Comparative an...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2002.6794
更新日期:2002-07-01 00:00:00
abstract::To resolve a candidate chromosome region on the middle part of bovine chromosome 6 (BTA6) containing several different quantitative trait locus (QTL) intervals, we constructed a high-resolution, integrated, comprehensive, and comparative map using a 12,000-rad, whole-genome, cattle-hamster radiation hybrid (RH) panel....
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2002.6778
更新日期:2002-06-01 00:00:00
abstract::Neurexins are neuron-specific vertebrate proteins with hundreds of differentially spliced isoforms that may function in synapse organization. We now show that Drosophila melanogaster and Caenorhabditis elegans express a single gene encoding only an alpha-neurexin, whereas humans and mice express three genes, each of w...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2002.6780
更新日期:2002-06-01 00:00:00
abstract::Class III myosins are actin-based motors with amino-terminal kinase domains. Expression of these motors is highly enhanced in retinal photoreceptors. As mutations in the gene encoding NINAC, a Drosophila melanogaster class III myosin, cause retinal degeneration, human homologs of this gene are potential candidates for...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2002.6749
更新日期:2002-05-01 00:00:00
abstract::During growth, invasion, and metastasis, tumor cells interact extensively with the surrounding stroma. To identify genes that are upregulated during this process, we compared mRNA pooled from tumor cells and fibroblasts cultured separately to mRNA from cells in coculture. Using differential display (DD), a transcript ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2002.6755
更新日期:2002-05-01 00:00:00
abstract::Mesomelic dysplasia is a severe shortening of forearms and forelegs, and is found in several distinct human syndromes. Here, we report the cloning of the breakpoints of a human t(2;8)(q31;p21) balanced translocation associated with mesomelic dysplasia of the upper limbs, as well as with vertebral defects. We show that...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2002.6735
更新日期:2002-04-01 00:00:00
abstract::Human DAB2IP (for DAB2 interaction protein) is a novel member of the RasGTPase-activating protein family. It interacts directly with DAB2, which suppresses growth of many cancer types. We demonstrated that DAB2IP is often downregulated in human prostate cancer cell lines. The predicted DAB2IP protein (967 amino acids)...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2002.6739
更新日期:2002-04-01 00:00:00
abstract::Psoriasis is a chronic inflammatory disease of the skin with both genetic and environmental risk factors. Here we describe the creation of a single-nucleotide polymorphism (SNP) map spanning 900-1200 kb of chromosome 3q21, which had been previously recognized as containing a psoriasis susceptibility locus, PSORS5. We ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2002.6720
更新日期:2002-03-01 00:00:00
abstract::We have cloned a basic helix-loop-helix (bHLH) factor gene, Bhlhb4, from a mouse beta-cell line. Fluorescence in situ hybridization (FISH) and genetic mapping place Bhlhb4 at the telomeric end of mouse chromosome 2 (H3-H4), syntenic to human chromosome 20q13. Based on phylogenetic analysis, BHLHB4 belongs to a new sub...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2002.6708
更新日期:2002-03-01 00:00:00
abstract::Several neuropsychiatric disorders map to human 15q13-q14, which contains a strong candidate in the alpha7-nicotinic acetylcholine receptor subunit gene (CHRNA7) and is partly duplicated, complicating further genetic analysis. We have shown that the partial duplication is in a hybrid (CHRFAM7A)between CHRNA7 and one o...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2002.6694
更新日期:2002-02-01 00:00:00
abstract::The WD-repeat protein family consists of a large group of structurally related yet functionally diverse proteins found predominantly in eukaryotic cells. These factors contain several (4-16) copies of a recognizable amino-acid sequence motif (the WD unit) thought to be organized into a "propeller-like" structure invol...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2001.6682
更新日期:2002-01-01 00:00:00
abstract::We have identified a migraine locus on chromosome 19p13.3/2 using linkage and association analysis. We isolated 48 single-nucleotide polymorphisms within the locus, of which we genotyped 24 in a Caucasian population comprising 827 unrelated cases and 765 controls. Five single-nucleotide polymorphisms within the insuli...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2001.6647
更新日期:2001-12-01 00:00:00
abstract::Hermansky-Pudlak syndrome (HPS) is a group of human disorders of organelle biogenesis characterized by defective synthesis of melanosomes, lysosomes, and platelet dense granules. In the mouse, at least 15 loci are associated with mutant phenotypes similar to human HPS. We have identified the gene mutated in cocoa (coa...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2001.6644
更新日期:2001-11-01 00:00:00
abstract::To understand the pattern of gene expression in mouse myeloid progenitor cells, we carried out a genome-wide analysis of gene expression in mouse bone marrow Gr-1(+) cells using SAGE and GLGI techniques. We identified 22,033 unique SAGE tags with quantitative information from 73,869 collected SAGE tags. Among these un...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2001.6633
更新日期:2001-10-01 00:00:00
abstract::We have analyzed a dense set of single-nucleotide polymorphisms (SNPs) and microsatellites spanning the T-helper cytokine gene cluster (interleukins 3, 4, 5, 9, and 13, interferon regulatory factor-1, colony-stimulating factor-2, and T-cell transcription factor-7) on 5q31 and the gene encoding the interleukin-4 recept...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2001.6613
更新日期:2001-09-01 00:00:00
abstract::We describe here the cloning and characterization of the human gene ERMAP, identified by subtractive hybridization using early and late gestation human fetal liver. By in situ hybridization, we found human ERMAP to be expressed not only in erythoid cells in fetal liver and adult bone marrow, but also in reticulocytes ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2001.6600
更新日期:2001-08-01 00:00:00
abstract::The TPD52 (tumor protein D52)-like proteins are small coiled-coil motif-bearing proteins which were first identified though their expression in human breast carcinoma. TPD52-like proteins are known to interact in hetero-and homomeric fashions, but there are no known heterologous binding partners for these proteins. We...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2001.6610
更新日期:2001-08-01 00:00:00
abstract::In the process of cloning the gene (Scyd1) encoding the mouse CX3C chemokine fractalkine, we identified a novel cDNA that encodes a chimeric molecule termed fracTARC. This molecule is a variant form of the mouse CC chemokine, TARC (for thymus- and activation-regulated chemokine), bearing the fractalkine signal sequenc...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2001.6585
更新日期:2001-07-01 00:00:00
abstract::Proteins governing cell death form the basis of many normal processes and contribute to the pathogenesis of many diseases when dysregulated. Here we report the cloning of a novel human CED-4-like gene, CLAN, and several of its alternatively spliced isoforms. These caspase-associated recruitment domain (CARD)-containin...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2001.6579
更新日期:2001-07-01 00:00:00
abstract::Hemizygous deletions on chromosome 22q11.2 result in developmental disorders referred to as DiGeorge syndrome (DGS)/velocardiofacial syndrome (VCFS). We report the isolation of a novel gene, PCQAP (PC2 glutamine/Q-rich-associated protein), that maps to the DiGeorge typically deleted region and encodes a protein identi...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2001.6566
更新日期:2001-06-15 00:00:00
abstract::Type A receptors of gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter, contain alpha, beta, delta, gamma, and rho subunits. The gamma subunit has four subtypes: gamma1, gamma2, gamma3, andgamma4. GABA(A) receptor-associated protein (GABARAP) was previously demonstrated to act as a linker protein between m...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2001.6555
更新日期:2001-06-15 00:00:00
abstract::We have developed a high-information-content fingerprinting (HICF) system for bacterial artificial chromosome (BAC) clones using a Type IIS restriction endonuclease, HgaI, paired with a Type II restriction endonuclease, RsaI. In the method described, unknown five-base overhangs generated with HgaI are partially or ful...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2001.6547
更新日期:2001-06-01 00:00:00
abstract::A novel human gene, SARM, encodes the orthologue of a Drosophila protein (CG7915) and contains a unique combination of the sterile alpha (SAM) and the HEAT/Armadillo motifs. The SARM gene was identified on chromosome 17q11, between markers D17S783 and D17S841 on BAC clone AC002094, which also included a HERV repeat an...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2001.6548
更新日期:2001-06-01 00:00:00
abstract::Several studies have reported significant linkage for schizophrenia on 6p23, with a maximum lod score between D6S274 and D6S285. In this paper, we present a new human kinesin gene localized in this 2-cM interval. This gene, termed KIF13A, belongs to the unc-104/KIF1A kinesin subfamily and represents the orthologue of ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2001.6535
更新日期:2001-05-15 00:00:00
abstract::The transcription factor E2F1 is an important regulator of cell proliferation, apoptosis, and differentiation. A novel mouse gene (Eig3) was originally identified as up-regulated in E2F1-overexpressing keratinocytes by the rapid analysis of gene expression technique. An apparently full-length cDNA and a 2.8-kb genomic...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2001.6518
更新日期:2001-05-01 00:00:00
abstract::Mutations in MCOLN1 have been found to cause mucolipidosis type IV (MLIV; MIM 252650), a rare autosomal recessive lysosomal storage disorder found primarily in the Ashkenazi Jewish population. As a part of the successful cloning of MCOLN1, we constructed a 1.4-Mb physical map containing 14 BACs and 4 cosmids that enco...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2001.6526
更新日期:2001-04-15 00:00:00
abstract::Genomic imprinting, the differential expression of paternal and maternal alleles, involves many chromosomal regions and plays a role in development and growth. Differential methylation of maternal and paternal alleles is a hallmark of imprinted genes, and thus methylation assays are widely used to support the identifi...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2001.6502
更新日期:2001-04-01 00:00:00
abstract::The imprinted mouse H19 gene exhibits maternal allele-specific expression and paternal allele-specific hypermethylation. We previously demonstrated that a 14-kb H19 minitransgene possessing 5' differentially methylated sequence recapitulates the endogenous H19 imprinting pattern when present as high-copy arrays. To in...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2001.6514
更新日期:2001-04-01 00:00:00
abstract::The Trp-Asp (WD) motif has been shown to exist in a number of proteins. Genes containing repeats of the WD motif compose a large gene family associated with a variety of cellular functions and can be divided into a number of functional subfamilies. By means of the differential display method using ttw, a mouse model f...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2000.6475
更新日期:2001-03-15 00:00:00
abstract::Here, we report the complete genomic sequence and the characterization of the 311-kb region of 18q21, a candidate tumor suppressor locus containing a region of homozygous deletion in a lung cancer cell line, Ma29. This region contained two known genes, SMAD4 and ME2 (mitochondrial malate oxydoreductase), and two novel...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2000.6454
更新日期:2001-03-01 00:00:00
abstract::The proximal albino deletions identify several functional regions on mouse Chromosome 7 critical for differentiation of mesoderm (mesd), development of the hypothalamus neuroendocrine lineage (nelg), and function of the liver (hsdr1). Using comparative mapping and genomic sequence analysis, we have identified four nov...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2000.6466
更新日期:2001-02-15 00:00:00
abstract::For diseases in which thrombosis plays a pivotal role, such as virus-induced fulminant hepatitis, fetal loss syndrome, and xenograft rejection, the major procoagulant has remained elusive. Here we describe the isolation and functional expression of a distinct human prothrombinase, termed FGL2. The murine fgl2 gene pro...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2000.6444
更新日期:2001-02-01 00:00:00
abstract::We characterize the cDNA and genomic structure of NSBP1, and demonstrate that it is a nuclear protein and the homologue of mouse Nsbp1, which is known to encode a nucleosomal binding and transcriptional activating protein related to the HMG-14/-17 chromosomal proteins. The encoded NSBP1 protein has 86% amino acid simi...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2000.6443
更新日期:2001-01-15 00:00:00