Comparative analysis of neurological disorders focuses genome-wide search for autism genes.

abstract：:Heme oxygenase catalyzes the oxidation of heme to biliverdin, the precursor of the bile pigment bilirubin, and carbon monoxide, a putative neurotransmitter. We have employed polymerase chain reaction and fluorescence in situ hybridization to determine the chromosome localization of the genes coding for the two known h...

journal_title：Genomics

authors： Kutty RK,Kutty G,Rodriguez IR,Chader GJ,Wiggert B

更新日期：1994-04-01 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

authors： Xin Y,Yu L,Chen Z,Zheng L,Fu Q,Jiang J,Zhang P,Gong R,Zhao S

更新日期：2001-06-15 00:00:00

abstract：:The sequence of the human Gc gene, including 4228 base pairs of the 5'-flanking region and 8514 base pairs of the 3' flanking region (55,136 in total), was determined from five overlapping lambda phage clones. The sequence spans 42,394 base pairs from the cap site to the polyadenylation site, and it reveals that the g...

journal_title：Genomics

authors： Witke WF,Gibbs PE,Zielinski R,Yang F,Bowman BH,Dugaiczyk A

更新日期：1993-06-01 00:00:00

abstract：:The general strategies of phototransduction in vertebrates and invertebrates share many similarities, but differ significantly in their underlying molecular machinery. The CDS gene encodes the CDP-diacylglycerol synthase (CDS) enzyme and is required for phototransduction in Drosophila. Using a bioinformatic approach, ...

journal_title：Genomics

authors： Volta M,Bulfone A,Gattuso C,Rossi E,Mariani M,Consalez GG,Zuffardi O,Ballabio A,Banfi S,Franco B

更新日期：1999-01-01 00:00:00

abstract：:The single functional mouse gene for MIF (macrophage migration inhibitory factor) has been cloned from a P1 library, and its exon/intron structure determined and shown to resemble that of the human gene. The gene was mapped to chromosome 10 using two multilocus crosses between laboratory strains and either Mus musculu...

journal_title：Genomics

authors： Kozak CA,Adamson MC,Buckler CE,Segovia L,Paralkar V,Wistow G

更新日期：1995-06-10 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：:Identifying heterogeneity in chronic obstructive pulmonary disease (COPD) phenotypes is important for the development of personalized medicine. Genome-wide analysis was used to compare the methylation levels of peripheral blood mononuclear cell (PBMC) samples from 24 acute-exacerbation (AE) COPD patients with good/poo...

journal_title：Genomics

authors： Lee SW,Hwang HH,Hsu PW,Chuang TY,Liu CW,Wu LS

更新日期：2019-12-01 00:00:00

abstract：:Synucleins are a family of small intracellular proteins expressed mainly in the nervous system. The involvement of synucleins in neurodegeneration and malignancy has been demonstrated, but the physiological functions of these proteins remain elusive. Further studies including generation of animals with modified persyn...

journal_title：Genomics

authors： Alimova-Kost MV,Ninkina NN,Imreh S,Gnuchev NV,Adu J,Davies AM,Buchman VL

更新日期：1999-03-01 00:00:00

abstract：:In this work we describe the process that, starting with the production of human full-length-enriched cDNA libraries using the CAP-Trapper method, led us to the discovery of 342 putative new human genes. Twenty-three thousand full-length-enriched clones, obtained from various cell lines and tissues in different develo...

journal_title：Genomics

authors： Dalla E,Mignone F,Verardo R,Marchionni L,Marzinotto S,Lazarević D,Reid JF,Marzio R,Klarić E,Licastro D,Marcuzzi G,Gambetta R,Pierotti MA,Pesole G,Schneider C

更新日期：2005-06-01 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：:Autosomal dominant hereditary spastic paraplegia (AD-HSP) is a genetically heterogeneous disorder characterized by progressive spasticity of the lower limbs. A major locus (SPG4) causing AD-HSP in about 40% of the families was mapped to chromosome 2p. The analysis of six SPG4-linked AD-HSP families using the RED proce...

journal_title：Genomics

authors： Hazan J,Davoine CS,Mavel D,Fonknechten N,Paternotte C,Fizames C,Cruaud C,Samson D,Muselet D,Vega-Czarny N,Brice A,Gyapay G,Heilig R,Fontaine B,Weissenbach J

更新日期：1999-09-15 00:00:00

abstract：:The T-box is a strongly conserved protein domain, 174 to 186 amino acids in length, that binds DNA. Many genes from many species have been shown to encode T-box domain-containing proteins. Here we report the cloning and characterization of a novel T-box gene, TBX21. The human cDNA contains an open reading frame encodi...

journal_title：Genomics

authors： Zhang WX,Yang SY

更新日期：2000-11-15 00:00:00

abstract：:Quantitative reverse transcription polymerase chain reaction (qRT-PCR) is currently viewed as the most precise technique to quantify levels of messenger RNA. Relative quantification compares the expression of a target gene under two or more experimental conditions normalized to the measured expression of a control gen...

journal_title：Genomics

authors： Steibel JP,Poletto R,Coussens PM,Rosa GJ

更新日期：2009-08-01 00:00:00

abstract：:Human chromosome 20 is conserved as a single segment on distal mouse chromosome (Chr) 2. PPGB, protective protein for beta-galactosidase, maps to human chromosome 20q13.1, and from linkage analysis of two interspecific crosses incorporating the mouse reciprocal translocations, T(2;8)2Wa (T2Wa) and T(2;16)28H (T28H), w...

journal_title：Genomics

authors： Williamson CM,Dutton ER,Beechey CV,Peters J

更新日期：1994-07-01 00:00:00

abstract：:In line 4 transgenic mice, six to eight copies of a 50-kb lambda recombinant clone are arranged in a head-to-tail tandem array on chromosome 3. Embryos homozygous for the transgene become arrested in their development on Day 5 of gestation shortly after implantation. The insertion site was cloned using a small segment...

journal_title：Genomics

authors： Mark WH,Signorelli K,Blum M,Kwee L,Lacy E

更新日期：1992-05-01 00:00:00

abstract：:This study has investigated the transcriptional regulation of the Emr1 gene in murine macrophages and defined an enhancer element within the proximal promoter that is necessary for Emr1 expression in myeloid cells. This element consists of an extended purine-rich sequence (PuRS) of 83 consecutive purine residues conta...

journal_title：Genomics

authors： O'Reilly D,Addley M,Quinn C,MacFarlane AJ,Gordon S,McKnight AJ,Greaves DR

更新日期：2004-12-01 00:00:00

abstract：:The recent identification of an intragenic differentially methylated region (DMR) within the last exon of the bovine Insulin-like growth factor 2 (IGF2) gene provides a diagnostic tool for in-depth investigation of bovine imprinting and regulatory mechanisms which are active during embryo development. Here, we used bi...

journal_title：Genomics

authors： Gebert C,Wrenzycki C,Herrmann D,Gröger D,Thiel J,Reinhardt R,Lehrach H,Hajkova P,Lucas-Hahn A,Carnwath JW,Niemann H

更新日期：2009-07-01 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：:Mice carrying the autosomal recessive rd gene experience total degeneration of the photoreceptor cells of the retina by 3 to 4 weeks of life. Biochemical studies of the rd retina have demonstrated a lesion in cyclic guanosine monophosphate (cGMP) metabolism due to depressed rod-specific cGMP-phosphodiesterase (cGMP-PD...

journal_title：Genomics

authors： Danciger M,Kozak CA,Farber DB

更新日期：1989-02-01 00:00:00

abstract：:Receiver operating characteristic (ROC) has been widely used to evaluate statistical methods, but a fatal problem is that ROC cannot evaluate estimation of the false discovery rate (FDR) of a statistical method and hence the area under of curve as a criterion cannot tell us if a statistical method is conservative. To ...

journal_title：Genomics

authors： Tan YD

更新日期：2011-11-01 00:00:00

abstract：:Treatment for lower-grade gliomas (LGG) has been challenging. Though emerging approaches such as immunotherapy is promising, it is still faced with immune tolerance, an obstacle that may be overcome by targeting autophagy-related (ATG) genes. After identifying three differentially expressed ATG genes (RIPK2, MUL1 and ...

journal_title：Genomics

authors： Lin JZ,Lin N

更新日期：2020-10-15 00:00:00

abstract：:Based on its map position, polymorphism pattern, and expression in the kidney, the gene encoding liver 20,000-30,000 MW protein 4 (LTW4) can be considered a potential candidate for the Jckm2 modifying locus, which mediates the severity of polycystic kidney disease in the juvenile cystic kidney mouse. Using two-dimensi...

journal_title：Genomics

authors： Iakoubova OA,Pacella LA,Her H,Beier DR

更新日期：1997-06-15 00:00:00

abstract：:A NotI end clone library has been constructed from a human-hamster hybrid cell line containing only human chromosome 11. Fifty-one NotI clones were chosen to characterize the library. The majority of NotI clones hybridize to small 15- to 200-kb fragments and have proven to be valuable for chromosome 11 physical mappin...

journal_title：Genomics

authors： Sanford J,Kim BW,Deaven LL,Jones C,Higgins MJ,Nowak NJ,Shows TB

更新日期：1993-03-01 00:00:00

abstract：:We have integrated genetic and physical mapping data for chromosome 17 subdivided into 26 bins, by using a panel of chromosome 17 deletion somatic cell hybrids. One hundred four short tandem repeat and STS markers have been localized into these bins and have enabled the ordering of 288 ESTs and 26 genes, including 142...

journal_title：Genomics

authors： Plummer SJ,Simmons JA,Adams L,Casey G

更新日期：1997-10-01 00:00:00

abstract：:Laboratory mouse strains are known to have emerged from recent interbreeding between individuals of Mus musculus isolated populations. As a result of this breeding history, the collection of polymorphisms observed between laboratory mouse strains is likely to harbor the effects of natural selection between reproductiv...

journal_title：Genomics

authors： Reuveni E,Birney E,Gross CT

更新日期：2010-04-01 00:00:00

abstract：:Autosomal dominant polycystic kidney disease (PKD1) is linked to the alpha-globin locus near the telomere of chromosome 16p. We established the existence of a conserved linkage group in mouse by mapping conserved sequences and cDNAs from the region surrounding the PKD1 gene in the mouse genome. Results obtained with t...

journal_title：Genomics

authors： Himmelbauer H,Pohlschmidt M,Snarey A,Germino GG,Weinstat-Saslow D,Somlo S,Reeders ST,Frischauf AM

更新日期：1992-05-01 00:00:00

abstract：:Mutations in the mouse dreher (dr) gene cause skeletal defects, hyperactivity, abnormal gait, deafness, white belly spotting, and hypoplasia of Müllerian duct derivatives. To map dr to high resolution, we utilized two crosses. Initially, we analyzed an intersubspecific intercross to construct a detailed genetic map of...

journal_title：Genomics

authors： Bergstrom DE,Gagnon LH,Eicher EM

更新日期：1999-08-01 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：:In our previous studies, diploid and triploid hybrids have been detected from the hybridization of Epinephelus coioides♀ × E. lanceolatus♂. The triploid groupers have been found to be delayed in gonadal development, but the mechanism remains poorly understood. In this study, we examined the gonadal development, assaye...

journal_title：Genomics

authors： Xiao L,Wang D,Guo Y,Tang Z,Liu Q,Li S,Zhang Y,Lin H

更新日期：2019-05-01 00:00:00

abstract：:Aminoacylase-1 (ACY1, EC 3.5.1.14) is a cytosolic enzyme with a wide range of tissue expression and has been postulated to function in the catabolism and salvage of acylated amino acids. ACY1 has been assigned to chromosome 3p21, a region reduced to homozygosity in small-cell lung cancer and renal cell carcinoma, and ...

journal_title：Genomics

authors： Miller YE,Drabkin H,Jones C,Fisher JH

更新日期：1990-09-01 00:00:00