Gene structure and expression of the mouse dyskeratosis congenita gene, dkc1.

abstract：:DNA 5' to the human myelin basic protein (MBP) gene, mapped to 18q22----qter, is known to manifest multiallelic DNA length variation with heterozygosity of at least 45%. Isolation of genomic DNA containing the MBP gene first exon and its 5' flanking region reveals that this polymorphism arises from a 994-bp region of ...

journal_title：Genomics

authors： Boylan KB,Ayres TM,Popko B,Takahashi N,Hood LE,Prusiner SB

更新日期：1990-01-01 00:00:00

abstract：:Through an exhaustive homology-based approach, coupled with manual efforts, we annotated and characterized 128 sensory neuron membrane proteins (SNMPs) from genomes and transcriptomes of 22 coleopteran species, with 107 novel candidates. Remarkably, we discovered, for the first time, a novel SNMP group, defined as Gro...

journal_title：Genomics

authors： Zhao YJ,Li GC,Zhu JY,Liu NY

更新日期：2020-07-01 00:00:00

abstract：:Down syndrome is a major cause of mental retardation and congenital heart defects and is due to the presence of three copies of human chromosome 21 in the affected individual. We have identified a gene, DSCR1 (HGMW-approved symbol), from the region 21q22.1-q22.2, which is highly expressed in human fetal brain and adul...

journal_title：Genomics

authors： Fuentes JJ,Pritchard MA,Estivill X

更新日期：1997-09-15 00:00:00

abstract：:Human chromosome 20 is conserved as a single segment on distal mouse chromosome (Chr) 2. PPGB, protective protein for beta-galactosidase, maps to human chromosome 20q13.1, and from linkage analysis of two interspecific crosses incorporating the mouse reciprocal translocations, T(2;8)2Wa (T2Wa) and T(2;16)28H (T28H), w...

journal_title：Genomics

authors： Williamson CM,Dutton ER,Beechey CV,Peters J

更新日期：1994-07-01 00:00:00

abstract：:Small cell lung cancer (SCLC) has been associated with a deletion of the short arm of chromosome 3. One SCLC cell line, H748, has an interstitial deletion of chromosome 3p and shows allele loss for the DNF15S2 locus detected by the probe lambda H3. Conservation of DNF15S2 sequences in mouse indicated that this human g...

journal_title：Genomics

authors： Naylor SL,Marshall A,Hensel C,Martinez PF,Holley B,Sakaguchi AY

更新日期：1989-04-01 00:00:00

abstract：:In this study we describe a modification of the bisulfite genomic sequencing protocol that enables detection of methylation from as few as five diploid cells from preimplantation mouse embryos. We have used bisulfite genomic sequencing to study the methylation profile of the putative imprinting element upstream of the...

journal_title：Genomics

authors： Warnecke PM,Mann JR,Frommer M,Clark SJ

更新日期：1998-07-15 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：:Identifying heterogeneity in chronic obstructive pulmonary disease (COPD) phenotypes is important for the development of personalized medicine. Genome-wide analysis was used to compare the methylation levels of peripheral blood mononuclear cell (PBMC) samples from 24 acute-exacerbation (AE) COPD patients with good/poo...

journal_title：Genomics

authors： Lee SW,Hwang HH,Hsu PW,Chuang TY,Liu CW,Wu LS

更新日期：2019-12-01 00:00:00

abstract：:The intron-exon organization of the human beta-adducin gene (ADD2) has been determined from overlapping genomic clones. The gene spans over 100 kb on chromosome 2p13 and comprises 17 exons. Seven of the exons are identical in size to the corresponding exons of the alpha-adducin gene (4p16.3), suggesting gene duplicati...

journal_title：Genomics

authors： Gilligan DM,Lozovatsky L,Silberfein A

更新日期：1997-07-15 00:00:00

abstract：:By searching the Expressed Sequence Tag database, a full-length cDNA for a novel human CC chemokine was cloned. This cDNA encoded a 94-amino-acid protein with a putative signal peptide of 26 amino acids. The deduced mature protein had the four conserved cysteine residues characteristic of CC chemokines and showed 44% ...

journal_title：Genomics

authors： Guo RF,Ward PA,Hu SM,McDuffie JE,Huber-Lang M,Shi MM

更新日期：1999-06-15 00:00:00

abstract：:Because of the conservation of the ubiquitin coding sequence and the number of transcriptionally active genes and reverse-transcribed pseudogenes, it has not been possible to use ubiquitin cDNA clones to map the functional ubiquitin genes. The UBB and UBC polyubiquitin genes have previously been mapped by the use of s...

journal_title：Genomics

authors： Webb GC,Baker RT,Coggan M,Board PG

更新日期：1994-02-01 00:00:00

abstract：:Psoriasis is a chronic inflammatory disease of the skin with both genetic and environmental risk factors. Here we describe the creation of a single-nucleotide polymorphism (SNP) map spanning 900-1200 kb of chromosome 3q21, which had been previously recognized as containing a psoriasis susceptibility locus, PSORS5. We ...

journal_title：Genomics

authors： Hewett D,Samuelsson L,Polding J,Enlund F,Smart D,Cantone K,See CG,Chadha S,Inerot A,Enerback C,Montgomery D,Christodolou C,Robinson P,Matthews P,Plumpton M,Wahlstrom J,Swanbeck G,Martinsson T,Roses A,Riley J,Purvi

更新日期：2002-03-01 00:00:00

abstract：:The human XPF protein, an endonuclease subunit essential for DNA excision repair, may also function in homologous recombination. To investigate a possible link between mammalian XPF and recombination that occurs during meiosis, we isolated, characterized, and determined an expression profile for the mouse Xpf gene. Th...

journal_title：Genomics

authors： Shannon M,Lamerdin JE,Richardson L,McCutchen-Maloney SL,Hwang MH,Handel MA,Stubbs L,Thelen MP

更新日期：1999-12-15 00:00:00

abstract：:Background Bioinformatics tools are of great significance and are used in different spheres of life sciences. There are wide variety of tools available to perform primary analysis of DNA and protein but most of them are available on different platforms and many remain undetected. Accessing these tools separately to pe...

journal_title：Genomics

authors： Iqbal MN,Rasheed MA,Awais M,Chammam W,Kanwal S,Khan SU,Saddick S,Tlili I

更新日期：2020-11-01 00:00:00

abstract：:The Gnas locus is highly complex and encodes several oppositely imprinted and alternatively spliced transcripts. Gnas itself encodes Gsalpha, which is involved in endocrine function and bone development, but the roles for the other transcripts have not been established. Here we describe a mouse mutation that provides ...

journal_title：Genomics

authors： Skinner JA,Cattanach BM,Peters J

更新日期：2002-10-01 00:00:00

abstract：:The identification and sequence of KiSS-1 (HGMW-approved symbol, KISS1), a human malignant melanoma metastasis-suppressor gene, was recently published. In this report, we present a corrected genomic sequence, genomic structure, and refined chromosomal location for KiSS-1. The genomic organization of the sequence revea...

journal_title：Genomics

authors： West A,Vojta PJ,Welch DR,Weissman BE

更新日期：1998-11-15 00:00:00

abstract：:A human tryptophan oxygenase clone was isolated by screening a liver cDNA library with a rat tryptophan oxygenase cDNA clone. Analysis showed extensive homology between the rat and the human DNA and protein sequences. The combined use of cell hybrids and in situ hydridization indicated that human tryptophan oxygenase ...

journal_title：Genomics

authors： Comings DE,Muhleman D,Dietz GW Jr,Donlon T

更新日期：1991-02-01 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：:The autosomal recessive mutation mnd2 results in early onset motor neuron disease with rapidly progressive paralysis, severe muscle wasting, regression of thymus and spleen, and death before 40 days of age. mnd2 has been mapped to mouse chromosome 6 with the gene order: centromere-Tcrb-Ly-2-Sftp-3-D6Mit4-mnd2-D6Mit 6,...

journal_title：Genomics

authors： Jones JM,Albin RL,Feldman EL,Simin K,Schuster TG,Dunnick WA,Collins JT,Chrisp CE,Taylor BA,Meisler MH

更新日期：1993-06-01 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：:The puffer fish, Fugu rubripes (Fugu), has been proposed as a model vertebrate genome. We have characterized two putative G-protein-coupled receptor encoding genes, FCB1A and FCB1B, obtained by degenerate PCR and low-stringency hybridization of a Fugu genomic library. These two genes show high homology to the human ca...

journal_title：Genomics

authors： Yamaguchi F,Macrae AD,Brenner S

更新日期：1996-08-01 00:00:00

abstract：:Whole-cell fusion between zebrafish fibroblast-like ZF4 cells and mouse B78 melanoma cells resulted in hybrids containing one or a few zebrafish chromosome segments in a murine chromosomal background. Fluorescence in situ hybridization to hybrid cell metaphases with a zebrafish genomic DNA probe revealed that many hyb...

journal_title：Genomics

authors： Ekker M,Speevak MD,Martin CC,Joly L,Giroux G,Chevrette M

更新日期：1996-04-01 00:00:00

abstract：:A contig of 20 yeast artificial clones (YACs) has been assembled across 1.5 Mb of Xq28 and formatted with nine previously reported probes and nine STSs developed from the sequence of probes and end fragments of YACs. YAC end fragments were obtained by subcloning, Alu-vector PCR, or primer-ligation PCR methods. Eightee...

journal_title：Genomics

authors： Palmieri G,Romano G,Casamassimi A,D'Urso M,Little RD,Abidi FE,Schlessinger D,Lagerström M,Malmgren H,Steen-Bondeson ML

更新日期：1993-06-01 00:00:00

abstract：:Recently, we identified multiple unique sequences in the 21q22.3 region and predicted them to be a cluster of genes encoding hair-specific keratin-associated proteins (KAPs). Detailed computer-aided analysis of these clustered genes revealed that the cluster spans over 165 kb and consists of 21 KAP-related sequences i...

journal_title：Genomics

authors： Shibuya K,Obayashi I,Asakawa S,Minoshima S,Kudoh J,Shimizu N

更新日期：2004-04-01 00:00:00

abstract：:Tandem repetitive sequences are DNA motifs common in the genomes of eukaryotic species and are often embedded in heterochromatic regions. In most eukaryotes, ribosomal genes, as well as centromeres and telomeres or subtelomeres, are associated with abundant tandem arrays of repetitive sequences and typically represent...

journal_title：Genomics

authors： Zhang D,Yang Q,Ding Y,Cao X,Xue Y,Cheng Z

更新日期：2008-08-01 00:00:00

abstract：:Random forests (RF) is a popular tree-based ensemble machine learning tool that is highly data adaptive, applies to "large p, small n" problems, and is able to account for correlation as well as interactions among features. This makes RF particularly appealing for high-dimensional genomic data analysis. In this articl...

journal_title：Genomics

authors： Chen X,Ishwaran H

更新日期：2012-06-01 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：: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：:The objective of this study was to identify gene expression differences in blood differences in children with autism (AU) and autism spectrum disorder (ASD) compared to general population controls. Transcriptional profiles were compared with age- and gender-matched, typically developing children from the general popul...

journal_title：Genomics

authors： Gregg JP,Lit L,Baron CA,Hertz-Picciotto I,Walker W,Davis RA,Croen LA,Ozonoff S,Hansen R,Pessah IN,Sharp FR

更新日期：2008-01-01 00:00:00

abstract：:Our previous genetic map for chromosome 17 has been expanded to include 72 loci defined by 90 RFLP markers and four microsatellite markers assayed by the polymerase chain reaction. Forty-one of these loci were ordered with odds greater than 1000:1 against local inversion, and the other 31 were ordered within 95% confi...

journal_title：Genomics

authors： O'Connell P,Plaetke R,Matsunami N,Odelberg S,Jorde L,Chance P,Leppert M,Lalouel JM,White R

更新日期：1993-01-01 00:00:00