Nonhomologous recombination between the cytochrome b558 heavy chain gene (CYBB) and LINE-1 causes an X-linked chronic granulomatous disease.

abstract：:Use of mixed models is in the spotlight as an emerging method for genome-wide association studies (GWASs). This study investigated the statistical power for identifying nucleotide variants associated with quantitative traits using the mixed model methodology. Quantitative traits were simulated through design of herita...

journal_title：Genomics

authors： Shin J,Lee C

更新日期：2015-01-01 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：:MicroRNAs (miRNAs) are a group of RNAs that play important roles in regulating gene expression and protein translation. In a previous study, we established an oligonucleotide microarray platform to detect miRNA expression. Because it contained only hundreds of probes, data normalization was difficult. In this study, t...

journal_title：Genomics

authors： Hua YJ,Tu K,Tang ZY,Li YX,Xiao HS

更新日期：2008-08-01 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：:Afrotheria genome size is reported to be over 50% larger than that of human, but we show that this is a gross overestimate. Although genome sequencing in Afrotheria is not complete, extensive homology with human has been revealed by chromosome painting. We provide new data on chromosome size and GC content in four Afr...

journal_title：Genomics

authors： Kasai F,O'Brien PC,Ferguson-Smith MA

更新日期：2013-11-01 00:00:00

abstract：:The gene for prosaposin was characterized by sequence analysis of chromosomal DNA to gain insight into the evolution of this locus that encodes four highly conserved sphingolipid activator proteins or saposins. The 13 exons ranged in size from 57 to 1200 bp, while the introns were from 91 to 3812 bp in length. The reg...

journal_title：Genomics

authors： Rorman EG,Scheinker V,Grabowski GA

更新日期：1992-06-01 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：:Fluorescence in situ hybridization was used to establish the order of, and to estimate genomic distances among, members of the carcinoembryonic antigen (CEA) and pregnancy-specific glycoprotein (PSG) subgroups on chromosome 19. Fluorescence in situ hybridization to metaphase chromosomes localized the PSG subgroup telo...

journal_title：Genomics

authors： Brandriff BF,Gordon LA,Tynan KT,Olsen AS,Mohrenweiser HW,Fertitta A,Carrano AV,Trask BJ

更新日期：1992-04-01 00:00:00

abstract：:The avian embryo develops within a specialized biological container (eggshell) that contains crucial nutritional compartments (albumen, yolk). We analyzed the transcriptome of ovary and three segments of oviduct, including magnum, isthmus and uterus in the chicken during egg formation. RNA-Seq libraries (42 in total) ...

journal_title：Genomics

authors： Yin Z,Lian L,Zhu F,Zhang ZH,Hincke M,Yang N,Hou ZC

更新日期：2020-01-01 00:00:00

abstract：:We have developed a high-information-content fingerprinting (HICF) system for bacterial artificial chromosome (BAC) clones using a Type IIS restriction endonuclease, HgaI, paired with a Type II restriction endonuclease, RsaI. In the method described, unknown five-base overhangs generated with HgaI are partially or ful...

journal_title：Genomics

authors： Ding Y,Johnson MD,Chen WQ,Wong D,Chen YJ,Benson SC,Lam JY,Kim YM,Shizuya H

更新日期：2001-06-01 00:00:00

abstract：:A wide range of autoimmune and other diseases are known to be associated with the major histocompatibility complex. Many of these diseases are linked to the genes encoding the polymorphic histocompatibility antigens in the class I and class II regions, but some appear to be more strongly associated with genes in the c...

journal_title：Genomics

authors： Albertella MR,Jones H,Thomson W,Olavesen MG,Campbell RD

更新日期：1996-09-01 00:00:00

abstract：:The human genome contains a group of gene families whose members map within the same regions of chromosomes 1, 6, and 9. The number of gene families involved and their pronounced clustering to the same areas of the genome indicate that their mapping relationship is nonrandom. By combining mapping data and sequence inf...

journal_title：Genomics

authors： Katsanis N,Fitzgibbon J,Fisher EM

更新日期：1996-07-01 00:00:00

abstract：:Rippling muscle disease (RMD) is an autosomal dominant disorder characterized by electrically silent, percussion-induced muscular contractions. We previously reported the localization of a gene for RMD to 1q41-q42 by genome-wide linkage analysis in a large family from Oregon. This RMD gene was initially found to be co...

journal_title：Genomics

authors： Stephan DA,Hoffman EP

更新日期：1999-02-01 00:00:00

abstract：:Transport proteins have essential functions in the uptake of neurotransmitters and neuromodulators. We have mapped the gene encoding the taurine transporter, Taut, to the central region of mouse chromosome 6. Analysis of a cross segregating the neurological mutant mnd2 excluded Taut as a candidate gene for this closel...

journal_title：Genomics

authors： Patel A,Rochelle JM,Jones JM,Sumegi J,Uhl GR,Seldin MF,Meisler MH,Gregor P

更新日期：1995-01-01 00:00:00

abstract：:The high-affinity receptor for interleukin-11 (IL-11) is composed of two subunits, IL-11 receptor alpha chain (IL-11R alpha) and gp130, the common subunit of the interleukin-6 (IL-6), ciliary neurotrophic factor (CNTF), leukemia inhibitory factor, and oncostatin M receptors. The IL-11 receptor-specific alpha chain sha...

journal_title：Genomics

authors： Chérel M,Sorel M,Apiou F,Lebeau B,Dubois S,Jacques Y,Minvielle S

更新日期：1996-02-15 00:00:00

abstract：:The gene encoding activation-induced cytidine deaminase (AID), a member of the cytidine deaminase family, was isolated from a murine B cell lymphoma line, CH12F3-2, induced by combined stimulation of TGF-beta, IL-4, and CD40L. We have isolated the human orthologue of mouse AID cDNA, which has an open reading frame of ...

journal_title：Genomics

authors： Muto T,Muramatsu M,Taniwaki M,Kinoshita K,Honjo T

更新日期：2000-08-15 00:00:00

abstract：:As the exponential growth of DNA sequence information in databases continues, the task of converting this deposited information into knowledge becomes more dependent on integrative sequence analysis and visualization tools. PANORAMA is an Internet-accessible software package that performs a variety of informatics anal...

journal_title：Genomics

authors： Pertsemlidis A,Pande A,Miller B,Schilling P,Wei MH,Lerman MI,Minna JD,Garner HR,Mittelman D

更新日期：2000-12-15 00:00:00

abstract：:CircRNA is a specific type of non-coding RNA that has been shown to have an important role in mammary gland (MG) activity, but no study of MG circRNA activity in sheep so far. In this study, the expression profile of circRNAs was investigated using RNA-Seq in MG parenchyma at peak lactation from Small-Tailed Han sheep...

journal_title：Genomics

authors： Hao Z,Zhou H,Hickford JGH,Gong H,Wang J,Hu J,Liu X,Li S,Zhao M,Luo Y

更新日期：2020-05-01 00:00:00

abstract：:We mapped a new X-linked recessive atrophic macular degeneration locus to Xp21.1-p11.4 and show allelic involvement of the gene RPGR, which normally causes severe peripheral retinal degeneration leading to global blindness. Ten affected males whom we examined had primarily macular atrophy causing progressive loss of v...

journal_title：Genomics

authors： Ayyagari R,Demirci FY,Liu J,Bingham EL,Stringham H,Kakuk LE,Boehnke M,Gorin MB,Richards JE,Sieving PA

更新日期：2002-08-01 00:00:00

abstract：:Insulin-like growth factor binding proteins (IGFBPs) constitute a family of at least six secreted proteins that bind insulin-like growth factors I and II (IGF-I and -II) and are capable of modifying IGF actions on target cells. We previously have purified an approximately 29-kDa IGFBP that is secreted by myoblasts dur...

journal_title：Genomics

authors： Kou K,Jenkins NA,Gilbert DJ,Copeland NG,Rotwein P

更新日期：1994-04-01 00:00:00

abstract：:We have isolated and characterized a novel cDNA coding for a highly hydrophobic protein (B5) from a fetal mouse mandibular condyle cDNA library. The full-length mouse B5 cDNA is 3095 nucleotides long and contains a potential open reading frame coding for a protein of 705 amino acids with a calculated molecular weight ...

journal_title：Genomics

authors： Hong G,Deleersnijder W,Kozak CA,Van Marck E,Tylzanowski P,Merregaert J

更新日期：1996-02-01 00:00:00

abstract：:We investigated the genome-wide distribution of CNVs in the Alzheimer's disease (AD) Neuroimaging Initiative (ADNI) sample (146 with AD, 313 with Mild Cognitive Impairment (MCI), and 181 controls). Comparison of single CNVs between cases (MCI and AD) and controls shows overrepresentation of large heterozygous deletion...

journal_title：Genomics

authors： Guffanti G,Torri F,Rasmussen J,Clark AP,Lakatos A,Turner JA,Fallon JH,Saykin AJ,Weiner M,ADNI the Alzheimer's Disease Neuroimaging Initiative.,Vawter MP,Knowles JA,Potkin SG,Macciardi F

更新日期：2013-08-01 00:00:00

abstract：:Neurofibromatosis 1 maps to chromosome band 17q11.2, and the NF1 locus has been partially characterized. Even though the full-length NF1 cDNA has been sequenced, the complete genomic structure of the NF1 gene has not been elucidated. The 5' end of NF1 is embedded in a CpG island containing a NotI restriction site, and...

journal_title：Genomics

authors： Li Y,O'Connell P,Breidenbach HH,Cawthon R,Stevens J,Xu G,Neil S,Robertson M,White R,Viskochil D

更新日期：1995-01-01 00:00:00

abstract：:Nitric oxide (NO) is an important molecular messenger regulating the functions of a wide variety of cells and tissues. NO is synthesized from L-arginine by a variety of isoforms of the enzyme nitric oxide synthase (NOS). We have used Southern blotting analysis on DNAs obtained from a panel of human-rodent hybrid cell ...

journal_title：Genomics

authors： Xu W,Charles IG,Moncada S,Gorman P,Sheer D,Liu L,Emson P

更新日期：1994-05-15 00:00:00

abstract：:Cyclin-dependent kinase 5 (Cdk5) is predominantly expressed in neurons. In vitro, Cdk5 purified from the nervous tissue phosphorylates both high-molecular-weight neurofilament and microtubule-associated tau. The mouse gene encoding Cdk5 (Cdk5) was found to be 5 kb in length and divided into 12 exons. All of the exon-i...

journal_title：Genomics

authors： Ohshima T,Nagle JW,Pant HC,Joshi JB,Kozak CA,Brady RO,Kulkarni AB

更新日期：1995-08-10 00:00:00

abstract：:Using the human/hamster cell line UCTP2A-3, we have generated and isolated three hybrids, each containing a novel human chromosome 3p break. All chromosome 3 materials distal to the breaks were lost. Two of the breakpoints were produced using aphidicolin induction; the third breakpoint occurred spontaneously. The aphi...

journal_title：Genomics

authors： Wang ND,Testa JR,Smith DI

更新日期：1992-12-01 00:00:00

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：: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：: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：: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