Homozygosity mapping in an Irish ALS case-control cohort describes local demographic phenomena and points towards potential recessive risk loci.

abstract：:Despite the broad variety of available microRNA (miRNA) prediction tools, their application to the discovery and annotation of novel miRNA genes in domestic species is still limited. In this study we designed a comprehensive pipeline (eMIRNA) for miRNA identification in the yet poorly annotated porcine genome and demo...

journal_title：Genomics

authors： Mármol-Sánchez E,Cirera S,Quintanilla R,Pla A,Amills M

更新日期：2020-05-01 00:00:00

abstract：:Salinity is a major limiting factor in crop production. Exogenous spermidine (spd) effectively ameliorates salt injury, though the underlying molecular mechanism is poorly understood. We have used a suppression subtractive hybridization method to construct a cDNA library that has identified up-regulated genes from ric...

journal_title：Genomics

authors： Saha J,Giri K,Roy S

更新日期：2020-11-01 00:00:00

abstract：:We have characterized three terminal deletions of the long arm of the X chromosome. Southern analysis using Xq27/q28 probes suggests that two of the deletions have breakpoints near the fragile site at Xq27.3. Flow karyotype analysis provides an estimate of 12 X 10(6) bp for the size of the deleted region. We have not ...

journal_title：Genomics

authors： Patterson M,Schwartz C,Bell M,Sauer S,Hofker M,Trask B,van den Engh G,Davies KE

更新日期：1987-12-01 00:00:00

abstract：:A cosmid library has been constructed with DNA isolated from a mouse/human hybrid cell line designated A15, which was previously characterized and shown to retain chromosome 15 as the only human material. The library was generated and stored as 34 independent pools of primary colonies at 8-10,000 colonies per pool. Sc...

journal_title：Genomics

authors： McDaniel LD,Zhang B,Kubiczek E,Ritter M,Huang J,Berard C,Leana-Cox J,Schwartz S,Schultz RA

更新日期：1997-02-15 00:00:00

abstract：:We have recently characterized a novel mammalian gene family, encoding membrane glycoproteins with four trans-membrane domains. This gene family includes the previously studied PMP22, which is involved in the Charcot-Marie-Tooth neuropathy, and three novel genes: TMP, XMP, and YMP (HGMW-approved symbols EMP1, EMP2 and...

journal_title：Genomics

authors： Ben-Porath I,Kozak CA,Benvenisty N

更新日期：1998-05-01 00:00:00

abstract：:Aldose reductase (alditol:NAD(P)+ 1-oxidoreductase; EC 1.1.1.21) (AR) catalyzes the reduction of several aldehydes, including that of glucose, to the corresponding sugar alcohol. Using a complementary DNA clone encoding human AR, we mapped the gene sequences to human chromosomes 1, 3, 7, 9, 11, 13, 14, and 18 by somat...

journal_title：Genomics

authors： Bateman JB,Kojis T,Heinzmann C,Klisak I,Diep A,Carper D,Nishimura C,Mohandas T,Sparkes RS

更新日期：1993-09-01 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

authors： Boucher CA,Carey N,Edwards YH,Siciliano MJ,Johnson KJ

更新日期：1996-04-01 00:00:00

abstract：:Changing bovine milk fatty acid (FA) composition through selection can decrease saturated FA (SFA) consumption, improve human health and provide a means for manipulating processing properties of milk. Our study determined associations between milk FA composition and genes from triacylglycerol (TAG) biosynthesis pathwa...

journal_title：Genomics

authors： Nafikov RA,Schoonmaker JP,Korn KT,Noack K,Garrick DJ,Koehler KJ,Minick-Bormann J,Reecy JM,Spurlock DE,Beitz DC

更新日期：2014-12-01 00:00:00

abstract：:We have isolated and characterized genomic clones containing the mouse myelin/oligodendrocyte glycoprotein (MOG) gene. It spans a region of 12.5 kb and consists of eight exons. Its exon-intron structure differs from that of classical MHC-class I genes, with which it is linked in the mouse genome. Nucleotide sequencing...

journal_title：Genomics

authors： Daubas P,Pham-Dinh D,Dautigny A

更新日期：1994-09-01 00:00:00

abstract：:TFE3, a member of the helix-loop-helix family of transcription factors, binds to the microE3 motif of the immunoglobulin heavy-chain enhancer and is expressed in many cell types. We have localized human TFE3 to the proximal short arm of the X chromosome using a somatic cell hybrid panel. A frequent RsaI RFLP detected ...

journal_title：Genomics

authors： Henthorn PS,Stewart CC,Kadesch T,Puck JM

更新日期：1991-10-01 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：:The structural gene for beta-galactoside-binding protein (Lgals-1), a cell growth regulatory molecule and cystostatic factor, is assigned to the E-region of mouse chromosome 15 and to the region q12-q13.1 of human chromosome 22. The evolutionary conservation of these two regions has been previously suggested from comp...

journal_title：Genomics

authors： Baldini A,Gress T,Patel K,Muresu R,Chiariotti L,Williamson P,Boyd Y,Casciano I,Wells V,Bruni CB

更新日期：1993-01-01 00:00:00

abstract：:One hundred nineteen YACs were assembled into 6 contigs spanning about 7.1 Mb of Xq28. The contigs were formatted with 65 STSs and 136 hybridization probes and were extensive enough to be aligned and oriented by published genetic linkage and somatic cell hybrid panel data. Selected YACs from the entire region were map...

journal_title：Genomics

authors： Palmieri G,Romano G,Ciccodicola A,Casamassimi A,Campanile C,Esposito T,Cappa V,Lania A,Johnson S,Reinbold R

更新日期：1994-11-01 00:00:00

abstract：:We isolated the human homologue, SUPT5H, of the yeast transcription factor, SPT5. The human homologue is 1088 aa long compared to 1063 aa for the yeast gene. SUPT5H maps to 19q13, near the ryanodine receptor. Like its family member, SUPT6H, and like yeast SPT5, SUPT5H has a very acidic 5' domain. Like its family membe...

journal_title：Genomics

authors： Chiang PW,Fogel E,Jackson CL,Lieuallen K,Lennon G,Qu X,Wang SQ,Kurnit DM

更新日期：1996-12-15 00:00:00

abstract：:Multiple infections by HPV genotypes are frequently detected in HPV+ cervical lesions but the interaction between each viral genotype during carcinogenesis is poorly understood. Here we carried out a comprehensive study to characterize the multiple HPV expression and integration by RNA-seq analyses of 19 invasive cerv...

journal_title：Genomics

authors： Brant AC,Menezes AN,Felix SP,Almeida LM,Moreira MAM

更新日期：2020-09-01 00:00:00

abstract：:The procollagen C-proteinase enhancer (PCPE) is a glycoprotein that potentiates enzymatic cleavage of the type I procollagen C-propeptide by bone morphogenetic protein-1 (BMP-1). The human PCPE gene (PCOLCE) was previously mapped to 7q22, an area frequently disrupted in uterine leiomyomata, while disruption of the rat...

journal_title：Genomics

authors： Scott IC,Clark TG,Takahara K,Hoffman GG,Greenspan DS

更新日期：1999-01-15 00:00:00

abstract：:TrxG and PcG complexes play key roles in the epigenetic regulation of development through H3K4me3 and H3K27me3 modification at specific sites throughout the human genome, but how these sites are selected is poorly understood. We find that in pluripotent cells, clustered CpG-islands at genes predict occupancy of H3K4me...

journal_title：Genomics

authors： Orlando DA,Guenther MG,Frampton GM,Young RA

更新日期：2012-11-01 00:00:00

abstract：:The DBA/2J inbred strain of mice is used extensively in hearing research, yet little is known about the genetic basis for its early onset, progressive hearing loss. To map underlying genetic factors we analyzed recombinant inbred strains and linkage backcrosses. Analysis of 213 mice from 31 BXD recombinant inbred stra...

journal_title：Genomics

authors： Johnson KR,Longo-Guess C,Gagnon LH,Yu H,Zheng QY

更新日期：2008-10-01 00:00:00

abstract：:Zebrafish transgenesis is a powerful and increasingly common strategy to assay vertebrate transcriptional regulatory control. Several challenges remain, however, to the broader application of this technique; they include increasing the rate with which transgenes can be analyzed and maximizing the informational value o...

journal_title：Genomics

authors： McGaughey DM,McCallion AS

更新日期：2010-06-01 00:00:00

abstract：:The human XPF protein, an endonuclease subunit essential for DNA excision repair, may also function in homologous recombination. To investigate a possible link between mammalian XPF and recombination that occurs during meiosis, we isolated, characterized, and determined an expression profile for the mouse Xpf gene. Th...

journal_title：Genomics

authors： Shannon M,Lamerdin JE,Richardson L,McCutchen-Maloney SL,Hwang MH,Handel MA,Stubbs L,Thelen MP

更新日期：1999-12-15 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

authors： Hwang DM,Fung YW,Wang RX,Laurenssen CM,Ng SH,Lam WY,Tsui KW,Fung KP,Waye M,Lee CY

更新日期：1995-11-20 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

authors： Hiroyama T,Iwama A,Nakamura Y,Nakauchi H

更新日期：2001-07-01 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

authors： Takahara K,Hoffman GG,Greenspan DS

更新日期：1995-10-10 00:00:00

abstract：:Physical maps are important resources both in sequencing and in functional analyses of large genomes. Global contig-building approaches are regarded to be more efficient relative to the cumulative outcome of scattered and more localized physical mapping studies accompanying positional cloning. This work is part of an ...

journal_title：Genomics

authors： Klysik J,Cai WW,Yang C,Bradley A

更新日期：1999-11-15 00:00:00

abstract：:Farletuzumab (FAR) is a humanized monoclonal antibody (mAb) that binds to folate receptor alpha. A Ph3 trial in ovarian cancer patients treated with carboplatin/taxane plus FAR or placebo did not meet the primary statistical endpoint. Subgroup analysis demonstrated that subjects with high FAR exposure levels (Cmin>57....

journal_title：Genomics

authors： O'Shannessy DJ,Bendas K,Schweizer C,Wang W,Albone E,Somers EB,Weil S,Meredith RK,Wustner J,Grasso L,Landers M,Nicolaides NC

更新日期：2017-07-01 00:00:00

abstract：:The gene encoding human carboxyl ester lipase (CEL), including 1628 bp of the 5'-flanking region, has been isolated and characterized from two overlapping lambda phage clones. The gene spans 9832 bp and contains 11 exons interrupted by 10 introns. The exons range in size from 88 to 204 bp, except for the last exon, wh...

journal_title：Genomics

authors： Lidberg U,Nilsson J,Strömberg K,Stenman G,Sahlin P,Enerbäck S,Bjursell G

更新日期：1992-07-01 00:00:00

abstract：:We examined the allele and haplotype frequencies of five polymorphic DNA markers in 355 European cystic fibrosis (CF) patients (from Belgium, the German Democratic Republic, Greece, and Italy) who were divided into two groups according to whether they were or not taking supplementary pancreatic enzymes. The level of l...

journal_title：Genomics

authors： Devoto M,De Benedetti L,Seia M,Piceni Sereni L,Ferrari M,Bonduelle ML,Malfroot A,Lissens W,Balassopoulou A,Adam G

更新日期：1989-11-01 00:00:00

abstract：:Proprotein convertase 4 (PC4) is a mammalian secretory serine endoproteinase similar to the yeast KEX2 gene product and specifically expressed in testicular germs cells. PC4 mRNA isoforms that vary in size and 3' coding sequence have been reported (N. G. Seitah, R. Day, J. Hamelin, A. Gaspar, M. W. Collard, and M. Chr...

journal_title：Genomics

authors： Mbikay M,Raffin-Sanson ML,Tadros H,Sirois F,Seidah NG,Chretien M

更新日期：1994-03-15 00:00:00

abstract：:We employed cDNA representational difference analysis (RDA) with human-mouse somatic hybrid cells containing human chromosome 17 and obtained several cDNA clones specific for this chromosome. A cDNA library from PHA-stimulated T cells was screened with unknown cDNA clones obtained by RDA as probes. Subsequently, 1 com...

journal_title：Genomics

authors： Tajima Y,Tashiro K,Camerini D

更新日期：1997-06-01 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

authors： Her C,Raftogianis R,Weinshilboum RM

更新日期：1996-05-01 00:00:00