Major rearrangements in the alpha 5(IV) collagen gene in three patients with Alport syndrome.

abstract：:The identification of noncoding functional elements within vertebrate genomes, such as those that regulate gene expression, is a major challenge. Comparisons of orthologous sequences from multiple species are effective at detecting highly conserved regions and can reveal potential regulatory sequences. The GDF6 gene c...

journal_title：Genomics

authors： Portnoy ME,McDermott KJ,Antonellis A,Margulies EH,Prasad AB,NISC Comparative Sequencing Program.,Kingsley DM,Green ED,Mortlock DP

更新日期：2005-09-01 00:00:00

abstract：:The proximal portion of mouse chromosome 1 harbors a variety of mutant loci that have yet to be characterized at the molecular level. We have constructed a library of genomic DNA fragments from the proximal portion of mouse chromosome 1 by microdissection and microcloning techniques, with the aim of generating genetic...

journal_title：Genomics

authors： Epstein DJ,Bardeesy N,Vidal S,Malo D,Weith A,Vekemans M,Gros P

更新日期：1994-01-01 00:00:00

abstract：:We have developed a graphical image database CancerProView (URL: http://cancerproview.dmb.med.keio.ac.jp/php/cpv.html) to assist the search for alterations of the motifs/domains in the cancer-related proteins that are caused by mutations in the corresponding genes. For the CancerProView, we have collected various kind...

journal_title：Genomics

authors： Mitsuyama S,Shimizu N

更新日期：2012-08-01 00:00:00

abstract：:We have established a method for amplifying and obtaining large quantities of chromosome-specific DNA by linker/adaptor ligation and polymerase chain reaction (PCR). Small quantities of DNA isolated from flow cytometry-sorted chromosomes 17 and 21 were digested with MboI, ligated to a linker/adaptor, and then subjecte...

journal_title：Genomics

authors： Chang KS,Vyas RC,Deaven LL,Trujillo JM,Stass SA,Hittelman WN

更新日期：1992-02-01 00:00:00

abstract：:Loss of heterozygosity (LOH) of chromosomal regions is crucial in tumor progression. In this study we assessed the potential of the Affymetrix GeneChip HuSNP mapping assay for detecting genome-wide LOH in prostate tumors. We analyzed two human prostate cell lines, P69SV40Tag (P69) and its tumorigenic subline, M12, and...

journal_title：Genomics

authors： Dumur CI,Dechsukhum C,Ware JL,Cofield SS,Best AM,Wilkinson DS,Garrett CT,Ferreira-Gonzalez A

更新日期：2003-03-01 00:00:00

abstract：:SOX proteins are transcription factors that are characterized by a common DNA-binding motif known as the HMG domain. We describe the 5. 4-kb human SOX8 gene that codes for a 446-amino-acid protein and that is expressed strongly in brain and less abundantly in other tissues. SOX8 shows an overall identity of 47% to SOX...

journal_title：Genomics

authors： Pfeifer D,Poulat F,Holinski-Feder E,Kooy F,Scherer G

更新日期：2000-01-01 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：:The LIM domain is a structural motif that is well conserved throughout evolution in a variety of factors known to play important roles in development and cell regulation. Ldb genes encode LIM domain-binding (Ldb) factors. Here we report on the structural organization and chromosomal localization of the mouse Ldb1 gene...

journal_title：Genomics

authors： Yamashita T,Agulnick AD,Copeland NG,Gilbert DJ,Jenkins NA,Westphal H

更新日期：1998-02-15 00:00:00

abstract：:Mutations in MCOLN1 have been found to cause mucolipidosis type IV (MLIV; MIM 252650), a rare autosomal recessive lysosomal storage disorder found primarily in the Ashkenazi Jewish population. As a part of the successful cloning of MCOLN1, we constructed a 1.4-Mb physical map containing 14 BACs and 4 cosmids that enco...

journal_title：Genomics

authors： Acierno JS Jr,Kennedy JC,Falardeau JL,Leyne M,Bromley MC,Colman MW,Sun M,Bove C,Ashworth LK,Chadwick LH,Schiripo T,Ma S,Goldin E,Schiffmann R,Slaugenhaupt SA

更新日期：2001-04-15 00:00:00

abstract：:Proteins of the DUF1313 family contain a highly conserved domain and are only found in plants; they play important roles in most plant functions. In this study, 269 DUF1313 genes from 81 photoautotrophic species were identified; they were classified into three major types based on the amino acid substitutions in the c...

journal_title：Genomics

authors： Li J,Hu E,Chen X,Xu J,Lan H,Li C,Hu Y,Lu Y

更新日期：2016-05-01 00:00:00

abstract：:Histamine N-methyltransferase (HNMT), a cytosolic histamine-metabolizing enzyme, is the only known product of the 50-kb human HNMT. Here, a detailed investigation of HNMT products revealed the existence of a new brain mRNA product of HNMT. This species, named HNMT-Short (HNMT-S), encodes a 126-amino-acid protein. Nort...

journal_title：Genomics

authors： Barnes WG,Grinde E,Crawford DR,Herrick-Davis K,Hough LB

更新日期：2004-01-01 00:00:00

abstract：:In this investigation, whole-genome identification and functional characterization of the cotton dehydrin genes was carried out. A total of 16, 7, and 7 dehydrin proteins were identified in G. hirsutum, G. arboreum and G. raimondii, respectively. Through RNA sequence data and RT-qPCR validation, Gh_A05G1554 (GhDHN_03)...

journal_title：Genomics

authors： Kirungu JN,Magwanga RO,Pu L,Cai X,Xu Y,Hou Y,Zhou Y,Cai Y,Hao F,Zhou Z,Wang K,Liu F

更新日期：2020-03-01 00:00:00

abstract：:Physical maps can be constructed by "fingerprinting" a large number of random clones and inferring overlap between clones when the fingerprints are sufficiently similar. E. Lander and M. Waterman (Genomics 2: 231-239, 1988) gave a mathematical analysis of such mapping strategies. The analysis is useful for comparing v...

journal_title：Genomics

authors： Port E,Sun F,Martin D,Waterman MS

更新日期：1995-03-01 00:00:00

abstract：:The human genome harbors thousands of long terminal repeats (LTRs) that are derived from endogenous retroviruses and contain elements able to regulate the expression of neighboring cellular genes. We have investigated the ability of human endogenous retroviral (HERV)-K LTRs to provide transcriptional processing signal...

journal_title：Genomics

authors： Baust C,Seifarth W,Germaier H,Hehlmann R,Leib-Mösch C

更新日期：2000-05-15 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：: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 recently described murine homeobox genes, Six1 and Six2, which are expressed during development in limb tendons, have also been shown to be expressed in skeletal and smooth muscle, respectively. We have cloned and sequenced a human SIX1 cDNA and shown by Northern blotting that it is expressed in adult skeletal mus...

journal_title：Genomics

authors： Boucher CA,Carey N,Edwards YH,Siciliano MJ,Johnson KJ

更新日期：1996-04-01 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 human lymphoid cell activation antigen CD39 is a known E-type apyrase that hydrolyzes extracellular ATP and ADP, a function important in homotypic adhesion, platelet aggregation, and removal by activated lymphocytes of the lytic effect of ATP. The recently identified putative rat homologue of CD39L1 has been shown...

journal_title：Genomics

authors： Chadwick BP,Frischauf AM

更新日期：1998-06-15 00:00:00

abstract：:The inheritance of obesity has been analyzed in an intercross between the lean 129/Sv mouse strain and the obesity-prone EL/Suz mouse strain. The weights of three major fat pads were determined on 4-month-old mice, and the sum of these weights, divided by body weight, was used as an adiposity index. The strategy of se...

journal_title：Genomics

authors： Taylor BA,Phillips SJ

更新日期：1996-06-15 00:00:00

abstract：:The human ortholog of the gene responsible for audiogenic seizure susceptibility in Frings and BUB/BnJ mice (mouse gene symbol Mass1) recently was shown to underlie Usher syndrome type IIC (USH2C). Here we report that the Mass1frings mutation is responsible for the early onset hearing impairment of BUB/BnJ mice. We fo...

journal_title：Genomics

authors： Johnson KR,Zheng QY,Weston MD,Ptacek LJ,Noben-Trauth K

更新日期：2005-05-01 00:00:00

abstract：:The ADH7 gene encoding human Class IV (sigma) alcohol dehydrogenase (ADH) was cloned from a Caucasian genomic DNA library and characterized. It has nine exons and eight introns that span about 22 kb, and its intron insertion is identical to that of the other ADH genes (ADH1 to ADH5). The nucleotide sequences of the ex...

journal_title：Genomics

authors： Yokoyama H,Baraona E,Lieber CS

更新日期：1996-01-15 00:00:00

abstract：:We developed a computational model to explore the hypothesis that regulatory instructions are context dependent and conveyed through specific 'codes' in human genomic DNA. We provide examples of correlation of computational predictions to reported mapped DNase I hypersensitive segments in the HOXA locus in human chrom...

journal_title：Genomics

authors： Bina M,Wyss P,Lazarus SA,Shah SR,Ren W,Szpankowski W,Crawford GE,Park SP,Song XC

更新日期：2009-04-01 00:00:00

abstract：:A procedure suitable for cloning labile mRNAs that contain AU motifs is presented (AU-DD). These motifs are regulatory sequences within the so-called AU-rich elements (AREs) often found in 3' untranslated regions of genes such as cytokines, proto-oncogenes, and transcription factors. AU-DD is an AU-motif-directed diff...

journal_title：Genomics

authors： Dominguez O,Ashhab Y,Sabater L,Belloso E,Caro P,Pujol-Borrell R

更新日期：1998-12-01 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：:Familial hemiplegic migraine (FHM) is a distinctive form of migraine with an autosomal dominant mode of inheritance. The migraine-like attacks are associated with transient hemiparesis. A locus for FHM has recently been assigned to chromosome 19 by linkage mapping. In the present study, five unrelated pedigrees with m...

journal_title：Genomics

authors： Ophoff RA,van Eijk R,Sandkuijl LA,Terwindt GM,Grubben CP,Haan J,Lindhout D,Ferrari MD,Frants RR

更新日期：1994-07-01 00:00:00

abstract：:Low-molecular-weight, calcium-dependent phospholipase A2 genes (PLA2s) that belong to the secreted type of PLA2s are clustered within a syntenic group on human 1p35-p36 and mouse 4qD3. We reassembled trace files available from the Whole Genome Sequencing (WGS) Project, obtaining an 86-kb contig with three tandem PLA2G...

journal_title：Genomics

authors： Golik M,Cohen-Zinder M,Loor JJ,Drackley JK,Band MR,Lewin HA,Weller JI,Ron M,Seroussi E

更新日期：2006-04-01 00:00:00

abstract：:We employed cDNA representational difference analysis (RDA) with human-mouse somatic hybrid cells containing human chromosome 17 and obtained several cDNA clones specific for this chromosome. A cDNA library from PHA-stimulated T cells was screened with unknown cDNA clones obtained by RDA as probes. Subsequently, 1 com...

journal_title：Genomics

authors： Tajima Y,Tashiro K,Camerini D

更新日期：1997-06-01 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

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