Transcription map of Xq27: candidates for several X-linked diseases.

abstract：:The nervous and immune systems share many functional and molecular similarities, including shared surface antigens, secretions of soluble factors, and cross-modulatory effects. We have identified previously a novel mRNA termed F5, which is expressed only in activated T lymphocytes and mature, postmitotic neurons. Tiss...

journal_title：Genomics

authors： Autieri MV,Kozak CA,Cohen JA,Prystowsky MB

更新日期：1995-01-01 00:00:00

abstract：:Fibulin-2 is a new extracellular matrix protein that we recently identified by characterizing mouse cDNA clones. Fibulin-2 mRNA is prominently expressed in mouse heart tissue and is present in low amounts in other tissues. In this study, we isolated and sequenced a 4.1-kb human fibulin-2 cDNA, which encoded a mature p...

journal_title：Genomics

authors： Zhang RZ,Pan TC,Zhang ZY,Mattei MG,Timpl R,Chu ML

更新日期：1994-07-15 00:00:00

abstract：:Here, we present the first complete genome sequence of brucellaphage Tbilisi (Tb) and compared it with that of Pr, a broad host-range brucellaphage recently isolated in Mexico. The genomes consist of 41,148 bp (Tb) and 38,253 bp (Pr), they differ mainly in the region encoding structural proteins, in which the genome o...

journal_title：Genomics

authors： Flores V,López-Merino A,Mendoza-Hernandez G,Guarneros G

更新日期：2012-04-01 00:00:00

abstract：:Multiple infections by HPV genotypes are frequently detected in HPV+ cervical lesions but the interaction between each viral genotype during carcinogenesis is poorly understood. Here we carried out a comprehensive study to characterize the multiple HPV expression and integration by RNA-seq analyses of 19 invasive cerv...

journal_title：Genomics

authors： Brant AC,Menezes AN,Felix SP,Almeida LM,Moreira MAM

更新日期：2020-09-01 00:00:00

abstract：:Specific language impairment (SLI) is defined as failure to acquire normal language skills despite adequate intelligence and environmental stimulation. Although SLI disorders are often heritable, the genetic basis is likely to involve a number of risk factors. This study describes a 7-year-old girl carrying an inherit...

journal_title：Genomics

authors： Kwasnicka-Crawford DA,Carson AR,Roberts W,Summers AM,Rehnström K,Järvelä I,Scherer SW

更新日期：2005-08-01 00:00:00

abstract：:The gene responsible for the second form of autosomal dominant polycystic kidney disease, PKD2, has recently been identified. We now describe the cloning, genomic localization, cDNA sequence, and expression analysis of its murine homologue, Pkd2. The cloned cDNA sequence is 5134 bp long and is predicted to encode a 96...

journal_title：Genomics

authors： Wu G,Mochizuki T,Le TC,Cai Y,Hayashi T,Reynolds DM,Somlo S

更新日期：1997-10-01 00:00:00

abstract：:Class III myosins are actin-based motors with amino-terminal kinase domains. Expression of these motors is highly enhanced in retinal photoreceptors. As mutations in the gene encoding NINAC, a Drosophila melanogaster class III myosin, cause retinal degeneration, human homologs of this gene are potential candidates for...

journal_title：Genomics

authors： Dosé AC,Burnside B

更新日期：2002-05-01 00:00:00

abstract：:The Alu repeat sequence is estimated to account for 5% of human genomic DNA. The precise relationship of Alu sequences to human fully spliced cDNA has yet to be determined, although many new protocols for cloning cDNAs either depend on the presence of Alus or--more usually--rely on their absence in a population of mes...

journal_title：Genomics

authors： Yulug IG,Yulug A,Fisher EM

更新日期：1995-06-10 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：: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：:Cloning and characterization of the cystic fibrosis transmembrane conductance regulator (CFTR) gene led to the identification and isolation of cDNA and genomic sequences that cross-hybridized to the first nucleotide binding fold of CFTR. DNA sequence analysis of these clones showed that the cross-hybridizing sequences...

journal_title：Genomics

authors： Rozmahel R,Heng HH,Duncan AM,Shi XM,Rommens JM,Tsui LC

更新日期：1997-11-01 00:00:00

abstract：:The adrenoleukodystrophy-related gene (ALDR, ABCD2) is a candidate modifier gene and a potential therapeutic target for X-linked adrenoleukodystrophy (ALD), a severe neurodegenerative disease. The ALDR gene is the closest homologue of the ALD gene, which encodes a peroxisomal ABC transporter involved in the catabolism...

journal_title：Genomics

authors： Pujol A,Troffer-Charlier N,Metzger E,Chimini G,Mandel JL

更新日期：2000-11-15 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：:We have identified a migraine locus on chromosome 19p13.3/2 using linkage and association analysis. We isolated 48 single-nucleotide polymorphisms within the locus, of which we genotyped 24 in a Caucasian population comprising 827 unrelated cases and 765 controls. Five single-nucleotide polymorphisms within the insuli...

journal_title：Genomics

authors： McCarthy LC,Hosford DA,Riley JH,Bird MI,White NJ,Hewett DR,Peroutka SJ,Griffiths LR,Boyd PR,Lea RA,Bhatti SM,Hosking LK,Hood CM,Jones KW,Handley AR,Rallan R,Lewis KF,Yeo AJ,Williams PM,Priest RC,Khan P,Donnelly

更新日期：2001-12-01 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：:The Tcp-1 gene is located in the t-complex region of mouse chromosome 17 and on the long arm of human chromosome 6. In the mouse, a related gene, Tcp-1x, is tightly linked to Tcp-1. It is shown here that two genes located 3' to the murine Tcp-1 and Tcp-1x genes code for proteins highly homologous to acetyl-CoA acetylt...

journal_title：Genomics

authors： Ashworth A

更新日期：1993-11-01 00:00:00

abstract：:Hematopoietic cell phosphatase (Hcph) was identified by amplification of conserved protein tyrosine phosphatase sequences from a myeloid cell line and is predominantly expressed in hematopoietic cells. Hcph is unique in containing two, tandemly repeated, src-homology 2 domains in the amino terminal region of the phosp...

journal_title：Genomics

authors： Yi T,Gilbert DJ,Jenkins NA,Copeland NG,Ihle JN

更新日期：1992-11-01 00:00:00

abstract：:Nearly 60 unique J alpha regions have been identified in human T-cell receptor (TCR) alpha chains to date, yet fewer than one-third of these have been localized within the alpha-chain locus. We report a rapid method for the mapping of productively rearranged J alpha regions using oligonucleotide probes and overlapping...

journal_title：Genomics

authors： Harvey RC,Showe LC

更新日期：1993-04-01 00:00:00

abstract：:Traditionally, somatic mutations are detected by examining DNA sequence. The maturity of sequencing technology has allowed researchers to screen for somatic mutations in the whole genome. Increasingly, researchers have become interested in identifying somatic mutations through RNAseq data. With this motivation, we eva...

journal_title：Genomics

authors： Sheng Q,Zhao S,Li CI,Shyr Y,Guo Y

更新日期：2016-05-01 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：:In the course of a systematic survey of DMD and BMD patients with intronic probes and with cDNA probes covering three-fourths of the coding sequence, 45 molecular deletions within the DMD gene were investigated. Forty-two percent of the breakpoints were located in the intronic sequence containing probe P20, whereas th...

journal_title：Genomics

authors： Gilgenkrantz H,Chelly J,Lambert M,Récan D,Barbot JC,van Ommen GJ,Kaplan JC

更新日期：1989-10-01 00:00:00

abstract：:We have analyzed the organization of the chicken alpha-globin gene domain using DNA miniarrays and have found two novel chromatin loop attachment regions. We have found a 40-kb loop domain that includes all the alpha-globin genes in cells of erythroid origin. One of the domain borders colocalizes almost exactly with a...

journal_title：Genomics

authors： Ioudinkova E,Petrov A,Razin SV,Vassetzky YS

更新日期：2005-01-01 00:00:00

abstract：:We have determined the cDNA and genomic structure of a gene (-14 gene) that lies adjacent to the human alpha-globin cluster. Although it is expressed in a wide range of cell lines and tissues, a previously described erythroid-specific regulatory element that controls expression of the alpha-globin genes lies within in...

journal_title：Genomics

authors： Vyas P,Vickers MA,Picketts DJ,Higgs DR

更新日期：1995-10-10 00:00:00

abstract：:Alternative splicing is an important mechanism mediating the function of genes in multicellular organisms. Recently, we discovered a new splicing-junction wobble mechanism that generates subtle alterations in mRNA by randomly selecting tandem 5' and 3' splicing-junction sites. Here we developed a sensitive approach to...

journal_title：Genomics

authors： Tsai KW,Lin WC

更新日期：2006-12-01 00:00:00

abstract：:Gene targeting is widely used for the precise manipulation of genes. However, in the model organism Caenorhabditis elegans non-transposon mediated gene targeting remains laborious, and as a result has not been widely used. One obstacle to the wider use of this approach is the difficulty of identifying homologous recom...

journal_title：Genomics

authors： Vázquez-Manrique RP,Legg JC,Olofsson B,Ly S,Baylis HA

更新日期：2010-01-01 00:00:00

abstract：:We report a comprehensive comparative analysis of human and mouse olfactory receptor (OR) genes encoding OR37 subtypes to determine the repertoire, chromosomal organization, and relatedness of these genes. Two OR37 clusters were found in both mouse (chromosome 4) and human (chromosome 9); with five genes in cluster I ...

journal_title：Genomics

authors： Hoppe R,Breer H,Strotmann J

更新日期：2003-09-01 00:00:00

abstract：:Type A receptors of gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter, contain alpha, beta, delta, gamma, and rho subunits. The gamma subunit has four subtypes: gamma1, gamma2, gamma3, andgamma4. GABA(A) receptor-associated protein (GABARAP) was previously demonstrated to act as a linker protein between m...

journal_title：Genomics

authors： Xin Y,Yu L,Chen Z,Zheng L,Fu Q,Jiang J,Zhang P,Gong R,Zhao S

更新日期：2001-06-15 00:00:00

abstract：:Portions of 16 chromosome 21 NotI linking clones were sequenced. These linking clone sequences represent sequence-tagged restriction sites that are potentially useful for finding genes and for finer genome mapping and sequencing. All of the clones were G+C rich (54 to 83%). CpG and GpC dinucleotide frequencies were ve...

journal_title：Genomics

authors： Zhu Y,Cantor CR,Smith CL

更新日期：1993-11-01 00:00:00

abstract：:4-Hydroxyphenylpyruvic acid dioxygenase (HPD) is an important enzyme in tyrosine catabolism in most organisms. The activity of this enzyme is expressed mainly in the liver and developmentally regulated in mammals, and a genetic deficiency in this enzyme in humans and mice leads to hereditary tyrosinemia type 3. Using ...

journal_title：Genomics

authors： Awata H,Endo F,Matsuda I

更新日期：1994-10-01 00:00:00

abstract：:The STM7 gene encodes a novel phosphatidylinositol-4-phosphate 5-kinase (PtdInsP 5-kinase) that is subject to alternative splicing and developmental control. We have recently presented data indicating that several splice variants of STM7 incorporate elements of the X25 sequence, previously implicated in the pathogenes...

journal_title：Genomics

authors： Pook MA,Carvajal JJ,Doudney K,Hillermann R,Chamberlain S

更新日期：1997-05-15 00:00:00