Physical and transcriptional map of a 311-kb segment of chromosome 18q21, a candidate lung tumor suppressor locus.

abstract：:Physical activity enhances muscle mitochondrial gene expression, while inactivity and mitochondrial dysfunction are both risk factors for developing diabetes. Defective activation of the transcriptional coactivator PGC-1alpha may contribute to the gene expression pattern observed in diabetic and insulin-resistant skel...

journal_title：Genomics

authors： Timmons JA,Norrbom J,Schéele C,Thonberg H,Wahlestedt C,Tesch P

更新日期：2006-01-01 00:00:00

abstract：:Full-length coding sequences of two novel human cadherin cDNAs were obtained by sequence analysis of several EST clones and 5' and 3' rapid amplification of cDNA ends (RACE) products. Exons for a third cDNA sequence were identified in a public-domain human genomic sequence, and the coding sequence was completed by 3' ...

journal_title：Genomics

authors： Kools P,Van Imschoot G,van Roy F

更新日期：2000-09-15 00:00:00

abstract：:A human mitochondrial DNA (mtDNA) standard reference material (SRM 2392) will provide quality control when mtDNA is sequenced for forensic identifications, medical diagnosis, or mutation detection. SRM 2392 includes DNA from two lymphoblast cell cultures (CHR and 9947A) and cloned DNA from the CHR HV1 region, which co...

journal_title：Genomics

authors： Levin BC,Cheng H,Reeder DJ

更新日期：1999-01-15 00:00:00

abstract：:Deletions giving rise to Duchenne muscular dystrophy (DMD) and the less severe Becker muscular dystrophy (BMD) occur in the same large gene on the short arm of the human X chromosome. We present a molecular mechanism to explain the clinical difference in severity between DMD and BMD patients who bear partial deletions...

journal_title：Genomics

authors： Monaco AP,Bertelson CJ,Liechti-Gallati S,Moser H,Kunkel LM

更新日期：1988-01-01 00:00:00

abstract：:This communication describes a software tool that enables one to simulate large-scale regional mapping using an ordered shotgun sequencing approach. The analysis routines that are provided yield an estimate of the depth of coverage of the physical map, the largest contig formed, and the number of gaps remaining at any...

journal_title：Genomics

authors： Singh GB,Krawetz SA

更新日期：1995-01-20 00:00:00

abstract：:Sperm motility is one of the most important indicators to evaluate poultry fertility. In order to explore key molecular regulation roles related to sperm motility, we employed testicular RNA sequencing of pigeon. A total of 705 known and 385 novel microRNAs were identified. Compared with the low sperm motility group, ...

journal_title：Genomics

authors： Yin Z,Xu X,Tan Y,Cao H,Zhou W,Dong X,Mao H

更新日期：2021-01-01 00:00:00

abstract：:The human genes encoding the alpha and beta forms of the retinoic acid receptor are known to be located on chromosomes 17 (band q21.1:RARA) and 3 (band p24:RARB). By in situ hybridization, we have now localized the gene for retinoic acid receptor gamma, RARG, on chromosome 12, band q13. We also mapped the three retino...

journal_title：Genomics

authors： Mattei MG,Rivière M,Krust A,Ingvarsson S,Vennström B,Islam MQ,Levan G,Kautner P,Zelent A,Chambon P

更新日期：1991-08-01 00:00:00

abstract：:Fragrance is an important component of end-use quality in rice. A set of 516 fragrant rice accessions were genotyped and over 80% of them carried the badh2.7 allele. A subset of 144 mostly fragrant accessions, including nine of Oryza rufipogon, was then subjected to a detailed diversity and haplotype analysis. The lev...

journal_title：Genomics

authors： Shao G,Tang S,Chen M,Wei X,He J,Luo J,Jiao G,Hu Y,Xie L,Hu P

更新日期：2013-02-01 00:00:00

abstract：:Indolethylamine N-methyltransferase (INMT) catalyzes the N-methylation of tryptamine and structurally related compounds. We recently cloned and characterized the rabbit INMT cDNA and gene as a step toward cloning the cDNA and gene for this enzyme in humans. We have now used a PCR-based approach to clone a human INMT c...

journal_title：Genomics

authors： Thompson MA,Moon E,Kim UJ,Xu J,Siciliano MJ,Weinshilboum RM

更新日期：1999-11-01 00:00:00

abstract：:Mammalian genomes include DNA segments that are imprinted (CpG-methylated) only on one of the two parental chromosomes, leading to parent-of-origin-specific gene expression. The process is regulated by Imprinting Control Regions (ICRs) and germline Differentially Methylated Regions (gDMRs). Previously, ZFP57 was shown...

journal_title：Genomics

authors： Bina M

更新日期：2017-07-01 00:00:00

abstract：:Most members of the large family of rhodopsin-like G-protein-coupled receptors possess an evolutionarily conserved Asp-Arg-Tyr (DRY) motif in the C-terminal region of the third transmembrane domain. Mutations of residues within this motif usually abolish receptor function and, when they occur naturally, can even cause...

journal_title：Genomics

authors： Römpler H,Yu HT,Arnold A,Orth A,Schöneberg T

更新日期：2006-06-01 00:00:00

abstract：:Chromosome 11p13 is frequently rearranged in individuals with the WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) or parts of this syndrome. To map the cytogenetic aberrations molecularly, we screened DNA from cell lines with known WAGR-related chromosome abnormalities for rearra...

journal_title：Genomics

authors： Gessler M,Bruns GA

更新日期：1988-08-01 00:00:00

abstract：:Balanced reciprocal translocation carriers are usually phenotypically normal but are at an increased risk of infertility, recurrent miscarriage or having affected children. Preimplantation genetic testing on chromosomal structural rearrangement (PGT-SR) offers a way to screen against unbalanced embryos. Here, we demon...

journal_title：Genomics

authors： Chow JFC,Cheng HHY,Lau EYL,Yeung WSB,Ng EHY

更新日期：2020-01-01 00:00:00

abstract：:Familial hemiplegic migraine (FHM) is a distinctive form of migraine with an autosomal dominant mode of inheritance. The migraine-like attacks are associated with transient hemiparesis. A locus for FHM has recently been assigned to chromosome 19 by linkage mapping. In the present study, five unrelated pedigrees with m...

journal_title：Genomics

authors： Ophoff RA,van Eijk R,Sandkuijl LA,Terwindt GM,Grubben CP,Haan J,Lindhout D,Ferrari MD,Frants RR

更新日期：1994-07-01 00:00:00

abstract：:The rate-limiting enzyme in insulin-mediated nonoxidative glucose disposal, glycogen synthase, has reduced activity in insulin-resistant subjects at risk for developing non-insulin-dependent diabetes mellitus (NIDDM). The synthase-activating enzyme, type 1 protein phosphatase (PP1), also has an abnormally low level of...

journal_title：Genomics

authors： Permana PA,Mott DM

更新日期：1997-04-01 00:00:00

abstract：:We have developed a graphical image database CancerProView (URL: http://cancerproview.dmb.med.keio.ac.jp/php/cpv.html) to assist the search for alterations of the motifs/domains in the cancer-related proteins that are caused by mutations in the corresponding genes. For the CancerProView, we have collected various kind...

journal_title：Genomics

authors： Mitsuyama S,Shimizu N

更新日期：2012-08-01 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

authors： McCarthy LC,Hosford DA,Riley JH,Bird MI,White NJ,Hewett DR,Peroutka SJ,Griffiths LR,Boyd PR,Lea RA,Bhatti SM,Hosking LK,Hood CM,Jones KW,Handley AR,Rallan R,Lewis KF,Yeo AJ,Williams PM,Priest RC,Khan P,Donnelly

更新日期：2001-12-01 00:00:00

abstract：:A gene family of Na+/H+ exchanger isoforms has been identified. Characterization of rabbit NHE3 suggests that it is the apical epithelial Na+/H+ exchanger isoform responsible for transepithelial, electroneutral Na+ absorption in intestinal and renal epithelial cells. We have previously isolated from a human kidney cor...

journal_title：Genomics

authors： Brant SR,Bernstein M,Wasmuth JJ,Taylor EW,McPherson JD,Li X,Walker S,Pouyssegur J,Donowitz M,Tse CM

更新日期：1993-03-01 00:00:00

abstract：:Long sequencing reads offer unprecedented opportunities in analysis and reconstruction of complex genomic regions. However, the gain in sequence length is often traded for quality. Therefore, recently several approaches have been proposed (e.g. higher sequencing coverage, hybrid assembly or sequence correction) to enh...

journal_title：Genomics

authors： Mahmoud M,Zywicki M,Twardowski T,Karlowski WM

更新日期：2019-01-01 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

authors： Chen J,Rowley DA,Clark T,Lee S,Zhou G,Beck C,Rowley JD,Wang SM

更新日期：2001-10-01 00:00:00

abstract：BACKGROUND:Copy number variations (CNV) are regional deviations from the normal autosomal bi-allelic DNA content. While germline CNVs are a major contributor to genomic syndromes and inherited diseases, the majority of cancers accumulate extensive "somatic" CNV (sCNV or CNA) during the process of oncogenetic transforma...

journal_title：Genomics

authors： Gao B,Baudis M

更新日期：2020-09-01 00:00:00

abstract：:Human myosin light chain-2 (MYL2) is an important protein involved in the regulation of myosin ATPase activity in smooth muscle. In cardiac muscle, the precise role of MYL2 is not well understood; however, an increase in ventricular MYL2 is observed during myocardial hypertrophy in cardiac patients with valve stenosis...

journal_title：Genomics

authors： Macera MJ,Szabo P,Wadgaonkar R,Siddiqui MA,Verma RS

更新日期：1992-07-01 00:00:00

abstract：:8-Oxo-dGTP (8-oxo-7,8-dihydrodeoxyguanosine triphosphate) is produced by active oxygen species in the nucleotide pool of the cell and can be incorporated into cellular DNA. Human cells contain enzyme activity that hydrolyzes 8-oxo-dGTP to 8-oxo-dGMP, thereby preventing occurrence of mutations, caused by misincorporati...

journal_title：Genomics

authors： Furuichi M,Yoshida MC,Oda H,Tajiri T,Nakabeppu Y,Tsuzuki T,Sekiguchi M

更新日期：1994-12-01 00:00:00

abstract：:Hereditary congenital facial paresis (HCFP) belongs to the family of congenital cranial dysinnervation disorders and is characterized by an isolated dysfunction of the facial nerve (nVII). While genetic defects have been identified for several members of this disease family, genes underlying congenital facial paresis ...

journal_title：Genomics

authors： van der Zwaag B,Burbach JP,Scharfe C,Oefner PJ,Brunner HG,Padberg GW,van Bokhoven H

更新日期：2005-07-01 00:00:00

abstract：:Mutations in the DKC1 gene are responsible for causing X-linked recessive dyskeratosis congenita (DKC) and a more severe allelic variant of the disease, Hoyeraal-Hreidarsson syndrome. Both diseases are characterized by progressive and fatal bone marrow failure. The nucleolar protein dyskerin is the pseudouridine synth...

journal_title：Genomics

authors： Heiss NS,Bächner D,Salowsky R,Kolb A,Kioschis P,Poustka A

更新日期：2000-07-15 00:00:00

abstract：:We have used radiation hybrid (RH) mapping and pulsed-field gel electrophoresis (PFGE) to determine the order and positions of 28 DNA markers from the distal region of the long arm of human chromosome 21. The maps generated by these two methods are in good agreement. This study, combined with that of D. R. Cox et al. ...

journal_title：Genomics

authors： Burmeister M,Kim S,Price ER,de Lange T,Tantravahi U,Myers RM,Cox DR

更新日期：1991-01-01 00:00:00

abstract：:The chromosomal region 17q12-q21 contains a gene (BRCA1) conferring susceptibility to early-onset familial breast and ovarian cancer. An 8000-rad radiation-reduced hybrid (RH) panel was constructed to provide a resource for long-range mapping of this region. A large fraction of the hybrids (approximately 90%) retained...

journal_title：Genomics

authors： Abel KJ,Boehnke M,Prahalad M,Ho P,Flejter WL,Watkins M,VanderStoep J,Chandrasekharappa SC,Collins FS,Glover TW

更新日期：1993-09-01 00:00:00

abstract：:Inborn errors of mitochondrial beta-oxidation cause ectopic fat accumulation, particularly in the liver. Fatty liver is associated with insulin resistance and predisposes to hepatic fibrosis. The factors underlying the pathophysiological consequences of hepatic fat accumulation have remained poorly defined. Gene expre...

journal_title：Genomics

authors： van der Leij FR,Bloks VW,Grefhorst A,Hoekstra J,Gerding A,Kooi K,Gerbens F,te Meerman G,Kuipers F

更新日期：2007-12-01 00:00:00

abstract：:Mammalian sex chromosomes are the remnants of an ancient autosomal pair present in the ancestral mammalian karyotype. As a consequence of random decay and chromosome rearrangements over evolutionary time, Y chromosome gene repertoires differ between eutherian lineages. To investigate the gene repertoire and transcript...

journal_title：Genomics

authors： Pearks Wilkerson AJ,Raudsepp T,Graves T,Albracht D,Warren W,Chowdhary BP,Skow LC,Murphy WJ

更新日期：2008-11-01 00:00:00

abstract：:Bacterial artificial chromosomes (BACs) provide a well-characterized resource for studying the functional organization of genes and other large chromosomal domains. To facilitate functional studies in cell cultures, we have developed a simple approach for generating stable cell lines with variable copy numbers of any ...

journal_title：Genomics

authors： Illenye S,Heintz NH

更新日期：2004-01-01 00:00:00