cDNA cloning, genomic structure, and chromosome mapping of the human epithelial membrane protein CL-20 gene (EMP1), a member of the PMP22 family.

abstract：:To predict the functions of a possible protein product of any new or uncharacterized DNA sequence, it is important first to detect all significant similarities between the encoded amino acid sequence and any accumulated protein sequence data. We have implemented a set of queries and database sequences and proceeded to...

journal_title：Genomics

authors： Shpaer EG,Robinson M,Yee D,Candlin JD,Mines R,Hunkapiller T

更新日期：1996-12-01 00:00:00

abstract：:Cri-du-chat is a chromosomal deletion syndrome characterized by partial deletion of the short arm of chromosome 5. The clinical symptoms include growth and mental retardation, microcephaly, hypertelorism, epicanthal folds, hypotonia, and a high-pitched monochromatic cry that is usually considered diagnostic for the sy...

journal_title：Genomics

authors： Goodart SA,Simmons AD,Grady D,Rojas K,Moyzis RK,Lovett M,Overhauser J

更新日期：1994-11-01 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 aim of the present study was to identify gene polymorphisms that confer susceptibility to obesity. A total of 5448 unrelated Japanese individuals from two independent populations were examined: subject panel A comprised 4252 individuals who visited participating hospitals; subject panel B comprised 1196 community-...

journal_title：Genomics

authors： Ichihara S,Yamada Y,Kato K,Hibino T,Yokoi K,Matsuo H,Kojima T,Watanabe S,Metoki N,Yoshida H,Satoh K,Aoyagi Y,Yasunaga A,Park H,Tanaka M,Nozawa Y

更新日期：2008-06-01 00:00:00

abstract：:Mapping of 33 anonymous DNA probes and 12 genes to the long arm of chromosome 16 was achieved by the use of 14 mouse/human hybrid cell lines and the fragile site FRA16B. Two of the hybrid cell lines contained overlapping interstitial deletions in bands q21 and q22.1. The localization of the 12 genes has been refined. ...

journal_title：Genomics

authors： Chen LZ,Harris PC,Apostolou S,Baker E,Holman K,Lane SA,Nancarrow JK,Whitmore SA,Stallings RL,Hildebrand CE

更新日期：1991-06-01 00:00:00

abstract：:To facilitate studies of the SRY gene, a 4741-bp portion of the sex-determining region of the human Y chromosome was sequenced and characterized. Two RNAs were found to hybridize to this genomic segment, one transcript deriving from SRY and the second cross-hybridizing to a pseudogene located 2.5 kb 5' of the SRY open...

journal_title：Genomics

authors： Behlke MA,Bogan JS,Beer-Romero P,Page DC

更新日期：1993-09-01 00:00:00

abstract：:MSG1 (melanocyte-specific gene 1) is a recently isolated gene predominantly expressed in cultured normal melanocytes and pigmented melanoma cells. MSG1 encodes a 27-kDa nuclear protein that has strong intrinsic transcriptional transactivating activity. In this report, the human MSG1 gene was mapped to chromosome Xq13....

journal_title：Genomics

authors： Fenner MH,Parrish JE,Boyd Y,Reed V,MacDonald M,Nelson DL,Isselbacher KJ,Shioda T

更新日期：1998-08-01 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：: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

abstract：:The gene for X-linked nephrogenic diabetes insipidus (NDI), a disorder which, if untreated, causes severe dehydration, mental retardation, and possibly death in affected males, has been mapped recently to the Xq28 band through demonstration of linkage to the DX552 locus and other DNA markers (N. Knoers et al., 1987, C...

journal_title：Genomics

authors： Knoers N,van der Heyden H,van Oost BA,Monnens L,Willems J,Ropers HH

更新日期：1989-04-01 00:00:00

abstract：:The novel weakly inward rectifying potassium channel Kir7.1 is a low-conductance channel that is predominantly expressed in epithelial cells. Here we describe a partial genomic characterization and the chromosomal assignment of the human Kir7.1 gene (KCNJ13). Analysis of the genomic structure using a PCR-based approac...

journal_title：Genomics

authors： Derst C,Döring F,Preisig-Müller R,Daut J,Karschin A,Jeck N,Weber S,Engel H,Grzeschik KH

更新日期：1998-12-15 00:00:00

abstract：:Cytogenetic studies of banded chromosomes and fluorescence in situ hybridization (FISH) of several yeast artificial chromosomes (YACs) that are part of a 128-kb resolution physical map of a portion of 12q13 revealed that 4/14 (28%) lipomas have breakpoints in 12q13. These breakpoints are more than 10 Mb away from the ...

journal_title：Genomics

authors： Merscher S,Marondel I,Pedeutour F,Gaudray P,Kucherlapati R,Turc-Carel C

更新日期：1997-11-15 00:00:00

abstract：:Members of the solute carrier family 25 (SLC25) are known to transport molecules over the mitochondrial membrane. In this paper we present 14 novel members of SLC25 family in human. These were provided with following gene symbols by the HGNC: SLC25A32, SLC25A33, SLC25A34, SLC25A35, SLC25A37, SLC25A38, SLC25A39, SLC25A...

journal_title：Genomics

authors： Haitina T,Lindblom J,Renström T,Fredriksson R

更新日期：2006-12-01 00:00:00

abstract：:The EWS gene has been identified based on its location at the chromosome 22 breakpoint of the t(11;22)(q24;q12) translocation that characterizes Ewing sarcoma and related neuroectodermal tumors. The EWS gene spans about 40 kb of DNA and is encoded by 17 exons. The nucleotide sequence of the exons is identical to that ...

journal_title：Genomics

authors： Plougastel B,Zucman J,Peter M,Thomas G,Delattre O

更新日期：1993-12-01 00:00:00

abstract：:During the course of systematic sequence tag analysis of clones isolated from an adult testis cDNA library, clones 296 and 576 were found to detect 71-74% sequence identity to the guinea pig sperm surface protein PH-20. This surface protein is involved in sperm-egg adhesion in the guinea pig. Nucleotide sequence for 1...

journal_title：Genomics

authors： Jones MH,Davey PM,Aplin H,Affara NA

更新日期：1995-10-10 00:00:00

abstract：:The vast majority of small-deletion syndromes are caused by haploinsufficiency of one or several genes and are transmitted as dominant traits. We have previously identified a homozygous deletion of 179,311 bp on chromosome 2p21 as the cause of a unique syndrome, inherited in a recessive mode, consisting of cystinuria,...

journal_title：Genomics

authors： Parvari R,Gonen Y,Alshafee I,Buriakovsky S,Regev K,Hershkovitz E

更新日期：2005-08-01 00:00:00

abstract：:To study the function of the B cell signal transduction molecule alpha 4 (IGBP1), we isolated a human alpha 4 (IGBP1) gene that has sequence similarity to the yeast protein (TAP42) involved in the rapamycin-sensitive signal transduction pathway. The human alpha 4 has sequence identities with murine alpha 4 of 83.4% nu...

journal_title：Genomics

authors： Onda M,Inui S,Maeda K,Suzuki M,Takahashi E,Sakaguchi N

更新日期：1997-12-15 00:00:00

abstract：:Spt3 is a Saccharomyces cerevisiae transcription factor that is required in vivo for the transcription of a number of RNA polymerase II-transcribed genes. We report the cloning of the gene encoding the human homologue of Spt3, SUPT3H, and its initial functional analysis. The human and yeast Spt3 homologues share an ov...

journal_title：Genomics

authors： Yu J,Madison JM,Mundlos S,Winston F,Olsen BR

更新日期：1998-10-01 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：:Positional cloning strategies for the hemochromatosis gene have previously concentrated on a target area restricted to a maximum genomic expanse of 400 kb around the HLA-A and HLA-F loci. Recently, the candidate region has been extended to 2-3 Mb on the distal side of the MHC. In this study, 10 coding sequences [hemoc...

journal_title：Genomics

authors： Pichon L,Carn G,Bouric P,Giffon T,Chauvel B,Lepourcelet M,Mosser J,Legall JY,David V

更新日期：1996-03-01 00:00:00

abstract：:Comparative genometrics of microorganisms is a relatively new area, in which genome properties are translated into numerical indexes. Such indexes can be used for a comprehensive and comparative analysis of microbial genomes, contributing to the understanding of their evolution. This work presents a new method for qua...

journal_title：Genomics

authors： de Carvalho MO,Ferreira HB

更新日期：2007-12-01 00:00:00

abstract：:Inducible costimulatory receptor (ICOS) is one recently identified member of the CD28 family of costimulatory molecules. Evidence suggests ICOS functions as a critical immune regulator and, to evaluate these effects, we employed the canine model system that has been used to develop strategies currently in clinical use...

journal_title：Genomics

authors： Lee JH,Joo YD,Yim D,Lee R,Ostrander EA,Loretz C,Little MT,Storb R,Kuhr CS

更新日期：2004-10-01 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：: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：:The present investigation was focused to study genomic diversity of Indian swamp buffalo populations through reduced representation approach (ddRAD). The heterozygosity (FST) among the swamp buffaloes was 0.11 between Assam and Manipuri; 0.20 between swamp (Manipuri) and riverine buffaloes; 0.30 between swamp (Manipur...

journal_title：Genomics

authors： Ravi Kumar D,Joel Devadasan M,Surya T,Vineeth MR,Choudhary A,Sivalingam J,Kataria RS,Niranjan SK,Tantia MS,Verma A

更新日期：2020-05-01 00:00:00

abstract：:Thirty-five new, unique, DNA probes have been isolated and each has been assigned to one of five regions on chromosome 22. The distribution of probes along the chromosome is what would be expected based on the estimated size of each region with the exception of the short arm (22p). RFLP analysis was performed using 13...

journal_title：Genomics

authors： Budarf ML,McDermid HE,Sellinger B,Emanuel BS

更新日期：1991-08-01 00:00:00

abstract：:Immunoblotting of isoelectric focusing gels of plasma and direct genomic DNA sequencing have been used to characterize a mutation in apolipoprotein A-I associated with the familial amyloidotic polyneuropathy originally described by Van Allen in an Iowa kindred. An arginine for glycine substitution in apolipoprotein A-...

journal_title：Genomics

authors： Nichols WC,Gregg RE,Brewer HB Jr,Benson MD

更新日期：1990-10-01 00:00:00

abstract：:CTP:phosphocholine cytidylyltransferase is the rate-controlling enzyme in phosphatidylcholine biosynthesis and is essential for the survival of eukaryotic cells. The murine cDNA for the cytidylyltransferase was cloned and sequenced. A genomic clone was isolated and the chromosomal location of the Ctpct locus determine...

journal_title：Genomics

authors： Rutherford MS,Rock CO,Jenkins NA,Gilbert DJ,Tessner TG,Copeland NG,Jackowski S

更新日期：1993-12-01 00:00:00

abstract：:The large number of redundant sequences available in nucleotide databases provides a resource for the identification of polymorphisms. Expressed polymorphisms in X-linked genes can be used to determine the inactivation status of the genes, and polymorphisms in genes that are subject to inactivation can then be used as...

journal_title：Genomics

authors： Kutsche R,Brown CJ

更新日期：2000-04-01 00:00:00

abstract：:The association of the HLA class III region with many diseases motivates the investigation of unidentified genes in the 30-kb segment between complement component genes Bf and C4. RD, which codes for a putative RNA binding protein, is 205 bp downstream of Bf. SKI2W (HGMW-approved symbol SKIV2L), a DEVH-box gene probab...

journal_title：Genomics

authors： Yang Z,Shen L,Dangel AW,Wu LC,Yu CY

更新日期：1998-11-01 00:00:00