Fine-mapping, genomic organization, and transcript analysis of the human ubiquitin-conjugating enzyme gene UBE2L3.

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：:The human homeobox-containing genes EN1 and EN2 are closely related to the Drosophila pattern formation gene engrailed (en), which may be important in brain development, as shown by gene expression studies during mouse embryogenesis. Here, we have refined the localization of EN1 to human chromosome 2q13-q21 using a ma...

journal_title：Genomics

authors： Köhler A,Logan C,Joyner AL,Muenke M

更新日期：1993-01-01 00:00:00

abstract：:The search for the gene for choroideremia (MIM 30310), a rare retinal dystrophy, has been of great interest due to the existence of several choroideremia patients with well-defined structural chromosome aberrations, thus providing the basis for a reverse genetics approach to the isolation of this disease gene. This re...

journal_title：Genomics

authors： Merry DE,Lesko JG,Siu V,Flintoff WF,Collins F,Lewis RA,Nussbaum RL

更新日期：1990-04-01 00:00:00

abstract：:A genetic basis for neural tube defects (NTD) is rarely doubted, but the genes involved have not yet been identified. This is partly due to a lack of suitable families on which to perform linkage analysis. An alternative approach is to use the many mouse genes that cause NTD as a means of isolating their human homolog...

journal_title：Genomics

authors： Stanier P,Henson JN,Eddleston J,Moore GE,Copp AJ

更新日期：1995-04-10 00:00:00

abstract：:The use of round spermatids that are fully active at the transcriptional level to create zygotes (i.e. round spermatid injection; ROSI) raises the question regarding the downregulation of all specific genes that are transcribed from the paternal genome at fertilization. In this study, we show that protamine 1 and 2 mR...

journal_title：Genomics

authors： Borghol N,Blachère T,Lefèvre A

更新日期：2008-05-01 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：:We have isolated and chromosomally fine-mapped 16 novel genes belonging to the human zinc finger Krüppel family (ZNF131-140, 142, 143, 148, 151, 154, and 155), including 1 of the GLI type (ZNF143) and 3 containing a KRAB (Krüppel-associated box) segment (ZNF133, 136, and 140). Based on their map position, several of t...

journal_title：Genomics

authors： Tommerup N,Vissing H

更新日期：1995-05-20 00:00:00

abstract：:Friedreich ataxia results from frataxin insufficiency caused by repeat expansion in intron 1 of the frataxin gene. Since the coding sequence is unchanged, the potential exists to ameliorate symptoms by increasing frataxin promoter activity. We therefore defined the minimal frataxin promoter in humans. Despite the fact...

journal_title：Genomics

authors： Greene E,Entezam A,Kumari D,Usdin K

更新日期：2005-02-01 00:00:00

abstract：:The human formylpeptide receptor (FPR) gene cluster has three members: FPR1 and FPRL1, which are expressed in neutrophils and monocytes and encode seven-transmembrane-domain chemotactic receptors specific for N-formylpeptides, and FPRL2, whose function is unknown. The FPRL1 receptor is also a lipoxin A4 receptor. Usin...

journal_title：Genomics

authors： Gao JL,Chen H,Filie JD,Kozak CA,Murphy PM

更新日期：1998-07-15 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：: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：:We employed the polymerase chain reaction and genomic DNA library screening to clone novel human genes, GPR9 and GPR10, and a rat gene, GPR14. GPR9, GPR10, and GPR14 each encode G protein-coupled receptors. GPR10 and GPR14 are intronless within their coding regions, while GPR9 contains at least one intron. The recepto...

journal_title：Genomics

authors： Marchese A,Heiber M,Nguyen T,Heng HH,Saldivia VR,Cheng R,Murphy PM,Tsui LC,Shi X,Gregor P

更新日期：1995-09-20 00:00:00

abstract：:The acyl-CoA dehydrogenases (ACDs) are a family of mitochondrial enzymes that oxidize straight chain or branched chain acyl-CoAs in the metabolism of fatty acids or branched chain amino acids. Deficiencies in members of this gene family are important causes of human disease. A cDNA encoding the human precursor for a n...

journal_title：Genomics

authors： Rozen R,Vockley J,Zhou L,Milos R,Willard J,Fu K,Vicanek C,Low-Nang L,Torban E,Fournier B

更新日期：1994-11-15 00:00:00

abstract：:The nervous (nr) mutant mouse displays two gross recessive traits: both an exaggeration of juvenile hyperactivity and a pronounced ataxia become apparent during the third and fourth postnatal weeks. Using an intersubspecific intercross, we have established a high-resolution map of a segment of mouse chromosome 8 that ...

journal_title：Genomics

authors： De Jager PL,Harvey D,Polydorides AD,Zuo J,Heintz N

更新日期：1998-03-15 00:00:00

abstract：:In this report we present the genomic, cDNA, and predicted protein sequences for mouse apolipoproteins A-I and CIII, as well as sequence comparisons with other species. The genes for these apolipoproteins are within 2.5 kb of each other and convergently transcribed. The almost 9 kb of genomic sequence presented extend...

journal_title：Genomics

authors： Januzzi JL,Azrolan N,O'Connell A,Aalto-Setälä K,Breslow JL

更新日期：1992-12-01 00:00:00

abstract：:DNA N6-methyladenine (6 mA) is an epigenetic modification that plays a vital role in a variety of cellular processes in both eukaryotes and prokaryotes. Accurate information of 6 mA sites in the Rosaceae genome may assist in understanding genomic 6 mA distributions and various biological functions such as epigenetic i...

journal_title：Genomics

authors： Khanal J,Lim DY,Tayara H,Chong KT

更新日期：2020-10-01 00:00:00

abstract：:Human Xp22.1 contains genes involved in mineral balance that are implicated in X-linked hypophosphatemia (XLH) in humans, its murine homologue (Hyp), and another distinct murine hypophosphatemic disorder (Gy). In XLH, a gene, PEX, has been found to be mutated in up to 83% of patients but the sequences of the promoter ...

journal_title：Genomics

authors： Grieff M,Whyte MP,Thakker RV,Mazzarella R

更新日期：1997-09-01 00:00:00

abstract：:Through its three operating programs, the Howard Hughes Medical Institute has supported a substantial amount of basic and clinical molecular research, has acted as a facilitator in initiating and funding a number of meetings, nationally and internationally, including work groups dealing with databases, and has support...

journal_title：Genomics

authors： Cahill GF,Hinton DR

更新日期：1989-11-01 00:00:00

abstract：:Genomic duplication, followed by divergence, contributes to organismal evolution. Several mechanisms, such as exon shuffling and alternative splicing, are responsible for novel gene functions, but they generate homologous domains and do not usually lead to drastic innovation. Major novelties can potentially be introdu...

journal_title：Genomics

authors： Okamura K,Feuk L,Marquès-Bonet T,Navarro A,Scherer SW

更新日期：2006-12-01 00:00:00

abstract：:Current microarray technology allows researchers to genotype a large number of SNPs with relatively small amounts of DNA. Nevertheless, researchers and clinicians still frequently face the problem of acquiring enough high-quality DNA for analysis. Whole-genome amplification (WGA) methods offer a solution for this prob...

journal_title：Genomics

authors： Xing J,Watkins WS,Zhang Y,Witherspoon DJ,Jorde LB

更新日期：2008-12-01 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：:Cardiomyopathies are severe degenerative disorders of the myocardium that lead to heart failure. During the last three decades bovine dilated cardiomyopathy (BDCMP) was observed worldwide in cattle of Holstein-Friesian origin. In the Swiss cattle population BDCMP affects Fleckvieh and Red Holstein breeds. The heart of...

journal_title：Genomics

authors： Owczarek-Lipska M,Plattet P,Zipperle L,Drögemüller C,Posthaus H,Dolf G,Braunschweig MH

更新日期：2011-01-01 00:00:00

abstract：:Expressed sequence tags (ESTs) have been obtained from several hundred brain cDNAs as an initial effort to characterize expressed brain genes. These ESTs will become tools for human genome mapping and they will also provide candidate causative genes for inherited disorders affecting the central nervous system. We have...

journal_title：Genomics

authors： Polymeropoulos MH,Xiao H,Glodek A,Gorski M,Adams MD,Moreno RF,Fitzgerald MG,Venter JC,Merril CR

更新日期：1992-03-01 00:00:00

abstract：BACKGROUND:mRNA polyadenylation, the addition of a poly(A) tail to the 3'-end of pre-mRNA, is a process critical to gene expression and regulation in eukaryotes. To understand the molecular mechanisms governing polyadenylation and other relevant biological processes, it is important to identify these poly(A) tails accu...

journal_title：Genomics

authors： Morton JT,Abrudan P,Figueroa N,Liang C,Karro JE

更新日期：2014-09-01 00:00:00

abstract：:Ten microsatellite DNA polymorphisms located on human chromosome 10 were regionally mapped using subchromosomal somatic cell hybrids and linkage analysis. The resulting order of the markers from pter-qter was [D10S89, D10S111], D10S107, D10S109, [D10S91, D10S110, D10S108, D10S88, D10S168], and D10S169. Order of the ma...

journal_title：Genomics

authors： Decker RA,Moore J,Ponder B,Weber JL

更新日期：1992-03-01 00:00:00

abstract：:Adipocyte triglyceride lipase (ATGL) and hormone-sensitive lipase (HSL) are intracellular lipases that mobilize triglycerides, the main energy source in mammals. Deletion of genes encoding ATGL (Pnpla2) or HSL (Lipe) in mice results in striking phenotypic differences, suggesting distinct roles for these lipases. The g...

journal_title：Genomics

authors： Pinent M,Hackl H,Burkard TR,Prokesch A,Papak C,Scheideler M,Hämmerle G,Zechner R,Trajanoski Z,Strauss JG

更新日期：2008-07-01 00:00:00

abstract：:PCR primers specific to the human liver fructose-1,6-bisphosphatase (FBP) gene were designed and used to isolate a cosmid clone. Physical mapping of the FBP cosmid by FISH, and genetic mapping of an associated GA repeat polymorphism (PIC = 0.35), located the liver FBP gene to chromosome 9q22.3 with no recombination be...

journal_title：Genomics

authors： Rothschild CB,Freedman BI,Hodge R,Rao PN,Pettenati MJ,Anderson RA,Akots G,Qadri A,Roh B,Fajans SS

更新日期：1995-09-01 00:00:00

abstract：:Microcell hybrids containing various regions of human chromosome 8 were formed by microcell-mediated transfer of neo-tagged chromosome 8 into the cells derived from severe combined immunodeficiency (SCID) mouse. Thus, 110 cosmid markers were isolated from SV40-transformed SCID fibroblast cell line (SCVA) containing a ...

journal_title：Genomics

authors： Kurimasa A,Suzuki N,Kumano S,Li H,Wells D,Wagner MJ,Chen F,Chen DJ,Oshimura M

更新日期：1995-07-20 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：:The intron-containing genes encoding rat and human ribosomal protein L19 (RPL19) have been cloned. The DNA sequences of the entire rat RPL19 gene and the 5' end of the human RPL19 gene have been determined. Sequence comparison of corresponding regions of the two genes reveals a striking interspecies homology in the 5'...

journal_title：Genomics

authors： Davies B,Fried M

更新日期：1995-01-20 00:00:00