Increased CNV-region deletions in mild cognitive impairment (MCI) and Alzheimer's disease (AD) subjects in the ADNI sample.

abstract：:The localization of a gene responsible for a normal variant of the human electroencephalogram to the distal part of chromosome 20q is reported. A linkage analysis, including 17 families with 191 individuals, tested with 73 RFLPs and 22 blood and serological markers, was performed for the low-voltage electroencephalogr...

journal_title：Genomics

authors： Steinlein O,Anokhin A,Yping M,Schalt E,Vogel F

更新日期：1992-01-01 00:00:00

abstract：:A monoclonal antibody, 170A1, which recognizes a nucleolar peptide of molecular weight 90,000, was raised. The protein was conserved among various vertebrates. To characterize the antigen, we screened a human fetal liver expression library using the monoclonal antibody as a probe. Molecular analyses of immunopositive ...

journal_title：Genomics

authors： Lee SG,Lee I,Park SH,Kang C,Song K

更新日期：1995-02-10 00:00:00

abstract：:Regions of DNA homology between human and marmoset (Callithrix jacchus) chromosomes have been demonstrated using fluorescence in situ hybridization. All 24 chromosome paints and two centromere repeat sequences from Homo sapiens (HSA) have been annealed to previously G-banded metaphase spreads of Callithrix jacchus. Al...

journal_title：Genomics

authors： Sherlock JK,Griffin DK,Delhanty JD,Parrington JM

更新日期：1996-04-15 00:00:00

abstract：:The human chromosomal growth hormone locus contained on cloned DNA and spanning approximately 66,500 bp was sequenced in its entirety to provide a framework for the analysis of its biology and evolution. This locus evolved by a series of duplications and contains in its present form five genes which display a remarkab...

journal_title：Genomics

authors： Chen EY,Liao YC,Smith DH,Barrera-Saldaña HA,Gelinas RE,Seeburg PH

更新日期：1989-05-01 00:00:00

abstract：:The cerebral cortex is a tissue with a high degree of neuronal diversity. It consists of six cell layers with a unique set of neuronal subtypes. A crucial step in the process of cortical differentiation is the transition from a mitotically active neuroblast to a postmitotic young neuron. To identify genes involved in ...

journal_title：Genomics

authors： Britanova O,Lukyanov S,Gruss P,Tarabykin V

更新日期：2002-07-01 00:00:00

abstract：:Understanding patterns of linkage disequilibrium (LD) across genomes may facilitate association mapping studies to localize genetic variants influencing complex diseases, a recognition that led to the International Haplotype Mapping Project (HapMap). Divergent patterns of haplotype frequency and LD across global popul...

journal_title：Genomics

authors： Kim KJ,Lee HJ,Park MH,Cha SH,Kim KS,Kim HT,Kimm K,Oh B,Lee JY

更新日期：2006-11-01 00:00:00

abstract：:Transcriptional re-programming in host and pathogen upon leaf and neck infection is an evolving area of research for the rice blast community. Analysis of in planta rice transcriptome in leaf and neck tissues revealed tissue-specific and infection-specific expression of rice and Magnaporthe oryzae genes in host and pa...

journal_title：Genomics

authors： Mahesh HB,Shirke MD,Wang GL,Gowda M

更新日期：2021-01-01 00:00:00

abstract：:The genetic linkage of Chediak-Higashi syndrome and its murine analog, beige (bg), to the T-cell receptor (TCR-gamma) gamma chain gene is further defined. Previous studies using recombinant inbred strains of mice demonstrated that the murine bg gene is genetically linked to a murine TCR-gamma gene. We report that in t...

journal_title：Genomics

authors： Holcombe RF,Strauss W,Owen FL,Boxer LA,Warren RW,Conley ME,Ferrara J,Leavitt RY,Fauci AS,Taylor BA

更新日期：1987-11-01 00:00:00

abstract：:The proximal end of mouse chromosome (Chr) 13 contains regions conserved on human chromosomes 1q42-q44, 6p23-p21, and 7p22-p13. This region also contains mutations that may be models for human disease, including beige (human Chediak-Higashi syndrome). An interspecific backcross of SB/Le and Mus spretus mice was used t...

journal_title：Genomics

authors： Perou CM,Perchellet A,Jago T,Pryor R,Kaplan J,Justice MJ

更新日期：1997-01-15 00:00:00

abstract：:Klebsiella variicola is an emerging pathogen responsible for causing blood-stream infections, urinary and respiratory tract related diseases in humans. In this report, we describe the genome sequence data and phenotypic characterization of K. variicola strain KV093 isolated from India. Comparative genome sequence anal...

journal_title：Genomics

authors： Srinivasan VB,Rajamohan G

更新日期：2020-09-01 00:00:00

abstract：:The chromosomal localization of the human Mu class glutathione S-transferase (GST) genes has been complicated by two factors; the total number of genes is unknown and there is a polymorphism that results from the presence or absence of the GSTM1 gene. Three human Mu class glutathione S-transferase isoenzymes, GSTM1, G...

journal_title：Genomics

authors： Ross VL,Board PG,Webb GC

更新日期：1993-10-01 00:00:00

abstract：:Equine Cerebellar Abiotrophy (CA) is a neurological disease found in Arabian horses. CA is characterized by post-natal degeneration of the Purkinje cells of the cerebellum. Signs of CA include ataxia, head tremors, and a lack of balance equilibrium. We have discovered a linkage of the CA phenotype to a microsatellite ...

journal_title：Genomics

authors： Brault LS,Cooper CA,Famula TR,Murray JD,Penedo MC

更新日期：2011-02-01 00:00:00

abstract：:The structural gene for beta-galactoside-binding protein (Lgals-1), a cell growth regulatory molecule and cystostatic factor, is assigned to the E-region of mouse chromosome 15 and to the region q12-q13.1 of human chromosome 22. The evolutionary conservation of these two regions has been previously suggested from comp...

journal_title：Genomics

authors： Baldini A,Gress T,Patel K,Muresu R,Chiariotti L,Williamson P,Boyd Y,Casciano I,Wells V,Bruni CB

更新日期：1993-01-01 00:00:00

abstract：:A human mitochondrial DNA (mtDNA) standard reference material (SRM 2392) will provide quality control when mtDNA is sequenced for forensic identifications, medical diagnosis, or mutation detection. SRM 2392 includes DNA from two lymphoblast cell cultures (CHR and 9947A) and cloned DNA from the CHR HV1 region, which co...

journal_title：Genomics

authors： Levin BC,Cheng H,Reeder DJ

更新日期：1999-01-15 00:00:00

abstract：:To investigate the relationship between meiotic crossover hot spots and block-like linkage disequilibrium (LD), we have extended our high-resolution studies of the human MHC class II region to a 90-kb segment upstream of the HLA-DOA gene. LD blocks in this region are not as well defined as in the neighboring 210-kb DN...

journal_title：Genomics

authors： Kauppi L,Stumpf MP,Jeffreys AJ

更新日期：2005-07-01 00:00:00

abstract：:The intron-containing gene for human ribosomal protein RPL23A has been cloned, sequenced, and localized. The gene is approximately 4.0 kb in length and contains five exons and four introns. All splice sites exactly match the AG/GT consensus rule. The transcript is about 0.6 kb and is detected in all tissues examined. ...

journal_title：Genomics

authors： Fan W,Christensen M,Eichler E,Zhang X,Lennon G

更新日期：1997-12-01 00:00:00

abstract：:A full-length cDNA coding for mouse plasminogen has been isolated and characterized. The cDNA is 2720 bp in length (excluding the poly(A) tail) and contains a 24-bp 5' noncoding region, an open reading frame of 2436 bp, and a 3' noncoding region of 257 bp. The open reading frame codes for 812 amino acids and includes ...

journal_title：Genomics

authors： Degen SJ,Bell SM,Schaefer LA,Elliott RW

更新日期：1990-09-01 00:00:00

abstract：:Farletuzumab (FAR) is a humanized monoclonal antibody (mAb) that binds to folate receptor alpha. A Ph3 trial in ovarian cancer patients treated with carboplatin/taxane plus FAR or placebo did not meet the primary statistical endpoint. Subgroup analysis demonstrated that subjects with high FAR exposure levels (Cmin>57....

journal_title：Genomics

authors： O'Shannessy DJ,Bendas K,Schweizer C,Wang W,Albone E,Somers EB,Weil S,Meredith RK,Wustner J,Grasso L,Landers M,Nicolaides NC

更新日期：2017-07-01 00:00:00

abstract：:lncRNAs are a class of transcriptional RNA molecules of >200 nucleotides in length. However, the overall expression pattern and function of lncRNAs in sheep muscle is not clear. Here, we identified 1566 lncRNAs and 404 differentially expressed lncRNAs in sheep muscle from prenatal (110 days of fetus) and postnatal (2 ...

journal_title：Genomics

authors： Li CY,Li X,Liu Z,Ni W,Zhang X,Hazi W,Ma Q,Zhang Y,Cao Y,Qi J,Yao Y,Feng L,Wang D,Hou X,Yu S,Liu L,Zhang M,Hu S

更新日期：2019-03-01 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 rat genomic library was screened using a gastric H,K-ATPase beta-subunit cDNA probe, and two clones were identified. Restriction endonuclease mapping and Southern hybridization analyses indicated that each of these clones contains the entire H,K-ATPase beta-subunit gene. The nucleotide sequence was determined for th...

journal_title：Genomics

authors： Newman PR,Shull GE

更新日期：1991-10-01 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 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：:Multiple inositol polyphosphate phosphatase is the only enzyme known to hydrolyze the abundant metabolites inositol pentakisphosphate and inositol hexakisphosphate. We have previously demonstrated that the chick homolog of multiple inositol polyphosphate phosphatase, designated HiPER1, has a role in growth plate chond...

journal_title：Genomics

authors： Chi H,Tiller GE,Dasouki MJ,Romano PR,Wang J,O'keefe RJ,Puzas JE,Rosier RN,Reynolds PR

更新日期：1999-03-15 00:00:00

abstract：:Identifying protein-coding genes in eukaryotic genomes remains a challenge in post-genome era due to the complex gene models. We applied a proteogenomics strategy to detect un-annotated protein-coding regions in mouse genome. High-accuracy tandem mass spectrometry (MS/MS) data from diverse mouse samples were generated...

journal_title：Genomics

authors： Xing XB,Li QR,Sun H,Fu X,Zhan F,Huang X,Li J,Chen CL,Shyr Y,Zeng R,Li YX,Xie L

更新日期：2011-11-01 00:00:00

abstract：:The human genes encoding the alpha and beta forms of the retinoic acid receptor are known to be located on chromosomes 17 (band q21.1:RARA) and 3 (band p24:RARB). By in situ hybridization, we have now localized the gene for retinoic acid receptor gamma, RARG, on chromosome 12, band q13. We also mapped the three retino...

journal_title：Genomics

authors： Mattei MG,Rivière M,Krust A,Ingvarsson S,Vennström B,Islam MQ,Levan G,Kautner P,Zelent A,Chambon P

更新日期：1991-08-01 00:00:00

abstract：:A key challenge in analyzing metagenomics data pertains to assembly of sequenced DNA fragments (i.e. reads) originating from various microbes in a given environmental sample. Several existing methodologies can assemble reads originating from a single genome. However, these methodologies cannot be applied for efficient...

journal_title：Genomics

authors： Reddy RM,Mohammed MH,Mande SS

更新日期：2014-02-01 00:00:00

abstract：:The distal end of chromosome 4q contains the locus involved in facioscapulohumeral muscular dystrophy (FSHD1). Specific genomic deletions within a tandem DNA repeat (D4Z4) are associated with the disease status, but no causal genes have yet been discovered. In a systematic search for genes, a 161-kb stretch of genomic...

journal_title：Genomics

authors： van Geel M,Heather LJ,Lyle R,Hewitt JE,Frants RR,de Jong PJ

更新日期：1999-10-01 00:00:00

abstract：:The genes for three subtilisin/kexin-like proprotein convertases, PC4, PC5, and PACE4, were mapped in the mouse by RFLP analysis of a DNA panel from a (C57BL/6JEi x SPRET/Ei)F1 x SPRET/Ei backcross. The chromosomal locations of the human homologs were determined by Southern blot analysis of a DNA panel from human-rode...

journal_title：Genomics

authors： Mbikay M,Seidah NG,Chrétien M,Simpson EM

更新日期：1995-03-01 00:00:00

abstract：:One of the major challenges in genome research is the identification of the complete set of genes in a genome. Alignments of expressed sequences (RNA and EST) with genomic sequences have been used to characterize genes. However, the number of alignments far exceeds the likely number of genes in a genome, suggesting th...

journal_title：Genomics

authors： Xie H,Diber A,Pollock S,Nemzer S,Safer H,Meloon B,Olson A,Hwang JJ,Endress GA,Savitsky K,Gill-More R

更新日期：2004-04-01 00:00:00