Exclusion of the dysplastic nevus syndrome (DNS) locus from the short arm of chromosome 1 by linkage studies in Dutch families.

abstract：:Phenol- and monoamine-metabolizing sulfotransferases (STP and STM, respectively) are members of a superfamily of enzymes that add sulfate to a variety of xenobiotics and endobiotics containing hydroxyl or amino functional groups. To characterize related sulfotransferase genes further, we used extra-long PCR (XL-PCR) t...

journal_title：Genomics

authors： Gaedigk A,Beatty BG,Grant DM

更新日期：1997-03-01 00:00:00

abstract：:SCG10 is a neuronal growth-associated protein that shares an amino acid sequence similarity with an 18- to 19-kDa phosphoprotein named stathmin (also called p19, p18, Op18, pp17, prosolin, pp20, 19K, and leukemia-associated phosphoprotein, Lap18), which is more broadly expressed in a variety of cell types of the neura...

journal_title：Genomics

authors： Okazaki T,Yoshida BN,Avraham KB,Wang H,Wuenschell CW,Jenkins NA,Copeland NG,Anderson DJ,Mori N

更新日期：1993-11-01 00:00:00

abstract：:Acid sphingomyelinase (ASM; HGMW-approved symbol, SMPD1) is the lysosomal phosphodiesterase that hydrolyzes sphingomyelin to ceramide and phosphocholine. The deficient activity of this enzyme results in Types A and B Niemann-Pick disease (NPD). The full-length cDNA encoding human ASM has been isolated and characterize...

journal_title：Genomics

authors： Schuchman EH,Levran O,Pereira LV,Desnick RJ

更新日期：1992-02-01 00:00:00

abstract：:The allele-specific polymerase chain reaction (ASPCR) procedure has proven a powerful tool for the detection and analysis of known genetic polymorphisms. Here, we present a novel application of the ASPCR technique to determine the ABO genotypes of individuals without the need of family analysis. The method introduces ...

journal_title：Genomics

authors： Ugozzoli L,Wallace RB

更新日期：1992-04-01 00:00:00

abstract：:We used a combination of sequence analysis and exon trapping in an effort to determine the complete transcript map for a cosmid (6E5) derived from 12q13.3, a region of DNA sequence amplification in human cancers. This cosmid, previously known to contain three genes (CDK4, SAS, and OS9), was sequenced, and that informa...

journal_title：Genomics

authors： Elkahloun AG,Krizman DB,Wang Z,Hofmann TA,Roe B,Meltzer PS

更新日期：1997-06-01 00:00:00

abstract：:GPC3, the gene modified in the Simpson-Golabi-Behmel gigantism/overgrowth syndrome (SGBS), is shown to span more than 500 kb of genomic sequence, with the transcript beginning 197 bp 5' of the translational start site. The Xq26.1 region containing GPC3 as the only known gene has been extended to > 900 kb by sequence a...

journal_title：Genomics

authors： Huber R,Crisponi L,Mazzarella R,Chen CN,Su Y,Shizuya H,Chen EY,Cao A,Pilia G

更新日期：1997-10-01 00:00:00

abstract：:We have isolated cDNA clones for the gene, termed GPX1, encoding the major human selenoprotein, glutathione peroxidase. Sequence analysis confirmed previous findings that the unusual amino acid seleno-cysteine is encoded by the opal terminator codon UGA. Southern blot analysis of human genomic DNA with the GPX1 cDNA s...

journal_title：Genomics

authors： Chada S,Le Beau MM,Casey L,Newburger PE

更新日期：1990-02-01 00:00:00

abstract：:Parasites of the genus Plasmodium infect a wide array of hosts, causing malaria in all major groups of terrestrial vertebrates including primates, reptiles, and birds. Molecular mechanisms explaining why some Plasmodium species are virulent, while other closely related malaria pathogens are relatively benign in the sa...

journal_title：Genomics

authors： Weinberg J,Field JT,Ilgūnas M,Bukauskaitė D,Iezhova T,Valkiūnas G,Sehgal RNM

更新日期：2019-12-01 00:00:00

abstract：:Fluorescence in situ hybridization mapping of fully integrated human BAC clones to primate chromosomes, combined with precise breakpoint localization by PCR analysis of flow-sorted chromosomes, was used to analyze the evolutionary rearrangements of the human 3q21.3-syntenic region in orangutan, siamang gibbon, and sil...

journal_title：Genomics

authors： Yue Y,Grossmann B,Ferguson-Smith M,Yang F,Haaf T

更新日期：2005-01-01 00:00:00

abstract：:Retinal degeneration slow (rds) is a mouse neurological mutation that is characterized phenotypically by abnormal development of rod and cone photoreceptors followed by their slow degeneration. This phenotype resembles the pathologic abnormalities seen in retinitis pigmentosa. The mouse rds gene has recently been clon...

journal_title：Genomics

authors： Travis GH,Christerson L,Danielson PE,Klisak I,Sparkes RS,Hahn LB,Dryja TP,Sutcliffe JG

更新日期：1991-07-01 00:00:00

abstract：:TR4 is a new member of the nuclear hormone receptor family. This receptor is highly conserved in rat and human, but an in-frame insertion of 19 amino acid residues in the amino-terminal (A/B) region was found in the human homolog, which we refer to as hTR4alpha1. By reverse transcription-PCR (RT-PCR) we have identifie...

journal_title：Genomics

authors： Yoshikawa T,DuPont BR,Leach RJ,Detera-Wadleigh SD

更新日期：1996-07-15 00:00:00

abstract：:Recent studies on the molecular mechanisms controlling the mammalian cell cycle have disclosed a large family of cdc2-related serine/threonine kinases. Among this gene family, the PCTAIRE protein kinases comprise a distinct subfamily of unknown cellular function. To analyze the genomic structure and chromosomal locati...

journal_title：Genomics

authors： Okuda T,Valentine VA,Shapiro DN,Downing JR

更新日期：1994-05-01 00:00:00

abstract：:Silencing of tissue-specific gene expression in mammalian somatic cell hybrids is a well-documented epigenetic phenomenon which is both profound (involving a large number of genes) and enigmatic. Our aim was to utilize whole-genome microarray analyses to determine the true extent of gene silencing on a genomic level. ...

journal_title：Genomics

authors： Bulla GA,Luong Q,Shrestha S,Reeb S,Hickman S

更新日期：2010-12-01 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

authors： Maclean KN,See CG,McKay IA,Bustin SA

更新日期：1995-11-01 00:00:00

abstract：:Random forests (RF) is a popular tree-based ensemble machine learning tool that is highly data adaptive, applies to "large p, small n" problems, and is able to account for correlation as well as interactions among features. This makes RF particularly appealing for high-dimensional genomic data analysis. In this articl...

journal_title：Genomics

authors： Chen X,Ishwaran H

更新日期：2012-06-01 00:00:00

abstract：:The human homeobox gene HLX1 appears to be involved in hemopoietic development and may represent a candidate gene for various developmental or hemopoietic disorders. We have isolated genomic clones for the gene, determined its intron-exon organization, and confirmed its map location on chromosome 1q41-q42. The transcr...

journal_title：Genomics

authors： Kennedy MA,Rayner JC,Morris CM

更新日期：1994-07-15 00:00:00

abstract：:Isozyme and restriction fragment length polymorphism (RFLP) analyses of backcross progeny, recombinant inbred strains, and congenic strains of mice positioned eight genetic markers with respect to the Lsh-Ity-Bcg disease resistance locus. Allelic isoforms of Idh-1 and Pep-3 and RFLPs detected by Southern hybridization...

journal_title：Genomics

authors： Mock B,Krall M,Blackwell J,O'Brien A,Schurr E,Gros P,Skamene E,Potter M

更新日期：1990-05-01 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：: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：:Defects in the human lysosomal acid lipase gene are responsible for cholesteryl ester storage disease (CESD) and Wolman disease. Exon skipping as the cause for CESD has been demonstrated. We present here a summary of the exon structure of the entire human lysosomal acid lipase gene consisting of 10 exons, together wit...

journal_title：Genomics

authors： Aslanidis C,Klima H,Lackner KJ,Schmitz G

更新日期：1994-03-15 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：:Several mammalian sialidases have been cloned so far and here we describe the identification and expression of a new member of the human sialidase gene family. The NEU4 gene, identified by searching sequence databases for entries showing homologies to the human cytosolic sialidase NEU2, maps in 2q37 and encodes a 484-...

journal_title：Genomics

authors： Monti E,Bassi MT,Bresciani R,Civini S,Croci GL,Papini N,Riboni M,Zanchetti G,Ballabio A,Preti A,Tettamanti G,Venerando B,Borsani G

更新日期：2004-03-01 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 molecular mechanisms of action of a HIV protease inhibitor, ritonavir, on hepatic function were explored on a genomic scale using microarrays comprising genes expressed in the liver of Sprague-Dawley rats (Rattus norvegicus). Analyses of hepatic transcriptional fingerprints led to the identification of several key...

journal_title：Genomics

authors： Lum PY,He YD,Slatter JG,Waring JF,Zelinsky N,Cavet G,Dai X,Fong O,Gum R,Jin L,Adamson GE,Roberts CJ,Olsen DB,Hazuda DJ,Ulrich RG

更新日期：2007-10-01 00:00:00

abstract：:Through an exhaustive homology-based approach, coupled with manual efforts, we annotated and characterized 128 sensory neuron membrane proteins (SNMPs) from genomes and transcriptomes of 22 coleopteran species, with 107 novel candidates. Remarkably, we discovered, for the first time, a novel SNMP group, defined as Gro...

journal_title：Genomics

authors： Zhao YJ,Li GC,Zhu JY,Liu NY

更新日期：2020-07-01 00:00:00

abstract：:The gene mutated in chorea-acanthocytosis (CHAC; approved gene symbol VPS13A) encodes chorein, a protein similar to yeast Vps13p. We detected several similar putative human proteins by BLAST analysis of chorein. We characterized the structure of three new genes encoding these CHAC-similar proteins, located on chromoso...

journal_title：Genomics

authors： Velayos-Baeza A,Vettori A,Copley RR,Dobson-Stone C,Monaco AP

更新日期：2004-09-01 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

authors： Kimmelman AC,Ross DA,Liang BC

更新日期：1996-06-01 00:00:00

abstract：:Childhood-onset asthma is frequently found in association with atopy. Although asthmatic children may develop IgE antibodies against variety of allergens, asthma is associated primarily with allergy to house-dust mites, molds, or other allergens. In this study, we conducted a genome-wide linkage search in 47 Japanese ...

journal_title：Genomics

authors： Yokouchi Y,Nukaga Y,Shibasaki M,Noguchi E,Kimura K,Ito S,Nishihara M,Yamakawa-Kobayashi K,Takeda K,Imoto N,Ichikawa K,Matsui A,Hamaguchi H,Arinami T

更新日期：2000-06-01 00:00:00

abstract：:Pulmonary surfactant consists of a complex mixture of phospholipids and several proteins essential to normal respiratory function. Two of the surfactant proteins, SP-A and SP-D, appear to have lectin-like activity relevant to the local phagocytic defense. Using polymerase chain reaction (PCR)-based somatic cell hybrid...

journal_title：Genomics

authors： Kölble K,Lu J,Mole SE,Kaluz S,Reid KB

更新日期：1993-08-01 00:00:00

abstract：:The acyl-CoA binding protein (ACBP) and the diazepam binding inhibitor (DBI) or endozepine are independent isolates of a single 86-amino-acid, 10-kDa protein. ACBP/DBI is highly conserved between species and has been identified in several diverse organisms, including human, cow, rat, frog, duck, insects, plants, and y...

journal_title：Genomics

authors： Gersuk VH,Rose TM,Todaro GJ

更新日期：1995-01-20 00:00:00