Discovery of a null mutation in a human trace amine receptor gene.

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：:MicroRNAs are small non-coding regulatory RNA molecules that play an important role in the modulation of gene expression during various environmental stresses. Pseudomonas putida RA, a plant growth promoting rhizobacteria (PGPR) colonizes the root surface of plants improving their growth and development during abiotic...

journal_title：Genomics

authors： Jatan R,Chauhan PS,Lata C

更新日期：2019-07-01 00:00:00

abstract：:Human Xq27 contains candidate regions for several disorders, yet is predicted to be a gene-poor cytogenetic band. We have developed a transcription map for the entire cytogenetic band to facilitate the identification of the relatively small number of expected candidate genes. Two approaches were taken to identify gene...

journal_title：Genomics

authors： Zucchi I,Jones J,Affer M,Montagna C,Redolfi E,Susani L,Vezzoni P,Parvari R,Schlessinger D,Whyte MP,Mumm S

更新日期：1999-04-15 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：: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：:The expression of plasma proteins changes dramatically as a result of cytokine induction, particularly interleukin-6, and their levels are used as clinical markers of inflammation. miRNAs are important regulators of gene expression and play significant roles in many inflammatory diseases and processes. The interaction...

journal_title：Genomics

authors： Lukowski SW,Fish RJ,Martin-Levilain J,Gonelle-Gispert C,Bühler LH,Maechler P,Dermitzakis ET,Neerman-Arbez M

更新日期：2015-08-01 00:00:00

abstract：:The recessive male sterility and histoincompatibility (mshi) mutation in the mouse generates pleiotropic effects on histocompatibility and male reproduction, while female mutants appear to be reproductively normal. We have mapped the mshi mutation to mouse Chromosome (Chr) 10 by analysis of 126 progeny from an intrasp...

journal_title：Genomics

authors： Turner JP,Carpentino JE,Cantwell AM,Hildebrandt AL,Myrie KA,King TR

更新日期：1997-01-01 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

abstract：:To identify genes important for taste receptor cell function, we analyzed the sequences and expression patterns of clones isolated from a mouse taste receptor cell-enriched cDNA library. Here, we report the analyses of two novel genes, Gpr113 and Trcg1. Gpr113 encodes a G-protein-coupled receptor belonging to family 2...

journal_title：Genomics

authors： LopezJimenez ND,Sainz E,Cavenagh MM,Cruz-Ithier MA,Blackwood CA,Battey JF,Sullivan SL

更新日期：2005-04-01 00:00:00

abstract：:A gene for autosomal recessive juvenile parkinsonism (ARJP; HGMW-approved symbol PARK2; MIM 600116) has recently been mapped to a 17-cM interval on chromosome 6q25.2-q27. We here report an inbred family with ARJP showing a perfect cosegregation with null allele for D6S305, which is a marker within the ARJP locus. We a...

journal_title：Genomics

authors： Matsumine H,Yamamura Y,Hattori N,Kobayashi T,Kitada T,Yoritaka A,Mizuno Y

更新日期：1998-04-01 00:00:00

abstract：:A genome-wide view of sequence mutability in mice is still limited, although biologists usually assume the same scenario for mice as for humans. In this study, we examined the sequence context in the local environment of 482,528 mouse single nucleotide polymorphisms (SNPs). We found that CpG-containing short sequences...

journal_title：Genomics

authors： Zhao Z,Zhang F

更新日期：2006-01-01 00:00:00

abstract：:Grapsoidea and Ocypodoidea, two of the most abundant and economically important groups in Brachyura, are of great commercial value to fisheries and aquaculture. However, the taxonomy of Ocypodoidea and Grapsoidea has long been highly disputed. Previous studies have investigated this problem through phylogenetic analys...

journal_title：Genomics

authors： Wang Q,Tang D,Guo H,Wang J,Xu X,Wang Z

更新日期：2020-01-01 00:00:00

abstract：:Cardiac hypertrophy is an important risk factor for cardiac morbidity and mortality. To unravel the underlying pathogenic genetic pathways, we hybridized left ventricular RNA from Transverse Aortic Constriction mice at 48 h, 1 week, and 2, 3, and 8 weeks after surgery to microarrays containing a 15K fetal cDNA collect...

journal_title：Genomics

authors： van den Bosch BJ,Lindsey PJ,van den Burg CM,van der Vlies SA,Lips DJ,van der Vusse GJ,Ayoubi TA,Doevendans PA,Smeets HJ

更新日期：2006-10-01 00:00:00

abstract：:For genetic linkage analysis of Japanese flounder, 160 doubled haploids (DH) were artificially produced using mitotic gynogenesis and were genotyped for 458 simple sequence repeat (SSR) markers, 101 of which show distortional segregation. The genetic linkage map was constructed by modifying recombination fractions bet...

journal_title：Genomics

authors： Zhao J,Han D,Shi K,Wang L,Gao J,Yang R

更新日期：2018-01-01 00:00:00

abstract：:Genotypes and allelic frequencies of TPH2, 5-HTTLPR, the 5-HTT (SLC6A4) intron 2 variable-number tandem repeat (VNTR) region, and the MAOA VNTR region were determined in brain-stem samples of 20 "genuine" SIDS cases and compared with results obtained from 150 healthy controls. The SNP G1463A responsible for 80% functi...

journal_title：Genomics

authors： Nonnis Marzano F,Maldini M,Filonzi L,Lavezzi AM,Parmigiani S,Magnani C,Bevilacqua G,Matturri L

更新日期：2008-06-01 00:00:00

abstract：BACKGROUND:Renal fibrosis is a final common pathway of chronic kidney disease. SIRT1, a NAD+-dependent protein deacetylase, deacetylates the p65 of NF-κB and shows protective effects in kidney disorders. miR-373 directly targets the 3'UTR of SIRT1. However, roles of miR-373 in renal fibrosis are unclear. METHODS:TGF-β...

journal_title：Genomics

authors： Yang H,Liao D,Tong L,Zhong L,Wu K

更新日期：2019-07-01 00:00:00

abstract：:SLUG is a member of the snail family of zinc finger proteins. It is involved in epithelial to mesenchyme cell transition during neurulation and plays a role in limb bud development. We have isolated and described the human SLUG gene by sequencing a region spanning 4034 bp. The human SLUG gene contains three exons. The...

journal_title：Genomics

authors： Cohen ME,Yin M,Paznekas WA,Schertzer M,Wood S,Jabs EW

更新日期：1998-08-01 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：:By optimizing the primer-annealing temperature in a rapid air cycling procedure, two human DNA sequences encoding centromere proteins B and C (CENP-B and CENP-C) were specifically amplified without any detectable amplification of highly homologous rodent DNA sequences. Using a panel of rodent/human hybrid DNA, the gen...

journal_title：Genomics

authors： Sugimoto K,Yata H,Himeno M

更新日期：1993-07-01 00:00:00

abstract：:A recessive mutation in the mouse, situs inversus viscerum (iv), results in randomization of organ position along the left-right body axis: approximately 50% of the progeny of homozygous matings exhibit situs solitus and 50% exhibit situs inversus. Recent studies have established genetic linkage between iv and the imm...

journal_title：Genomics

authors： McGrath J,Horwich AL,Brueckner M

更新日期：1992-11-01 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：:The TLE genes are the human homologues of Drosophila groucho, a member of the Notch signaling pathway. This pathway controls a number of different cell-fate choices in invertebrates and vertebrates. We are interested in investigating the functions of the TLE gene family during epithelial determination and carcinogenes...

journal_title：Genomics

authors： Liu Y,Dehni G,Purcell KJ,Sokolow J,Carcangiu ML,Artavanis-Tsakonas S,Stifani S

更新日期：1996-01-01 00:00:00

abstract：:The use of short tandem repeat polymorphisms (STRPs) as marker loci for linkage analysis is becoming increasingly important due to their large numbers in the human genome and their high degree of polymorphism. Fluorescence-based detection of the STRP pattern with an automated DNA sequencer has improved the efficiency ...

journal_title：Genomics

authors： Oetting WS,Lee HK,Flanders DJ,Wiesner GL,Sellers TA,King RA

更新日期：1995-12-10 00:00:00

abstract：:There is a high level of conservation between human chromosomes and bovine syntenic groups. One such comparison is between human chromosome 12 and bovine chromosome 5, where at least 16 loci have been shown to be conserved in an homologous segment. However, the degree of conservation of order of the loci on bovine chr...

journal_title：Genomics

authors： Barendse W,Armitage SM,Womack JE,Hetzel J

更新日期：1992-09-01 00:00:00

abstract：INTRODUCTION:Long non-coding RNAs (lncRNAs) have fundamental roles in cell migration, proliferation, invasion and metastasis. METHODS:In the current study, we evaluated expression of a panel of lncRNAs in bladder cancer tissues, adjacent non-cancerous tissues (ANCTs) and normal bladder tissues to evaluate their diagno...

journal_title：Genomics

authors： Abdolmaleki F,Ghafoui-Fard S,Taheri M,Mordadi A,Afsharpad M,Varmazyar S,Nazparvar B,Oskooei VK,Omrani MD

更新日期：2020-01-01 00:00:00

abstract：:Gene expression variations (GEV) among different ethnic groups have been a subject matter for extensive study. Relatively less known is the extent of alternative splicing variations (ASV) in the context of ethnicity. We conducted a transcriptome sequencing study of 20 lymphoblastoid cell lines obtained from Caucasian ...

journal_title：Genomics

authors： Li JW,Lai KP,Ching AK,Chan TF

更新日期：2014-01-01 00:00:00

abstract：:CancerEnD is an integrated resource developed for annotating 8524 unique expressed enhancers, associated genes, somatic mutations and copy number variations of 8063 cancer samples from 18 cancer types of TCGA. Somatic mutation data was taken from the COSMIC repository. To delineate the relationship of change in copy n...

journal_title：Genomics

authors： Kumar R,Lathwal A,Kumar V,Patiyal S,Raghav PK,Raghava GPS

更新日期：2020-09-01 00:00:00

abstract：:Pax-1, a member of a murine multigene family, belongs to the paired box-containing class of developmental control genes first identified in Drosophila. The Pax-1 gene encodes a sequence-specific DNA-binding protein with transcriptional activating properties and has been found to be mutated in the autosomal recessive m...

journal_title：Genomics

authors： Schnittger S,Rao VV,Deutsch U,Gruss P,Balling R,Hansmann I

更新日期：1992-11-01 00:00:00

abstract：:Six of the human minisatellites detected by DNA fingerprint probes have been localized by in situ hybridization to human metaphase chromosomes. These hypervariable loci are not dispersed at random in the human genome, but show preferential, though not exclusive, localization to terminal G-bands of human autosomes. Two...

journal_title：Genomics

authors： Royle NJ,Clarkson RE,Wong Z,Jeffreys AJ

更新日期：1988-11-01 00:00:00

abstract：:The wealth of genomic technologies has enabled biologists to rapidly ascribe phenotypic characters to biological substrates. Central to effective biological investigation is the operational definition of the process under investigation. We propose an elucidation of categories of biological characters, including diseas...

journal_title：Genomics

authors： Baker EJ,Jay JJ,Philip VM,Zhang Y,Li Z,Kirova R,Langston MA,Chesler EJ

更新日期：2009-12-01 00:00:00