Tissue-specific expression and mapping of the Cox7ah gene in mouse.

abstract：:The transcription factor E2F1 is an important regulator of cell proliferation, apoptosis, and differentiation. A novel mouse gene (Eig3) was originally identified as up-regulated in E2F1-overexpressing keratinocytes by the rapid analysis of gene expression technique. An apparently full-length cDNA and a 2.8-kb genomic...

journal_title：Genomics

authors： Wang A,Johnson DG,MacLeod MC

更新日期：2001-05-01 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：: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：:Deletions giving rise to Duchenne muscular dystrophy (DMD) and the less severe Becker muscular dystrophy (BMD) occur in the same large gene on the short arm of the human X chromosome. We present a molecular mechanism to explain the clinical difference in severity between DMD and BMD patients who bear partial deletions...

journal_title：Genomics

authors： Monaco AP,Bertelson CJ,Liechti-Gallati S,Moser H,Kunkel LM

更新日期：1988-01-01 00:00:00

abstract：:Using the human/hamster cell line UCTP2A-3, we have generated and isolated three hybrids, each containing a novel human chromosome 3p break. All chromosome 3 materials distal to the breaks were lost. Two of the breakpoints were produced using aphidicolin induction; the third breakpoint occurred spontaneously. The aphi...

journal_title：Genomics

authors： Wang ND,Testa JR,Smith DI

更新日期：1992-12-01 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：:TR4 is a new member of the nuclear hormone receptor family. This receptor is highly conserved in rat and human, but an in-frame insertion of 19 amino acid residues in the amino-terminal (A/B) region was found in the human homolog, which we refer to as hTR4alpha1. By reverse transcription-PCR (RT-PCR) we have identifie...

journal_title：Genomics

authors： Yoshikawa T,DuPont BR,Leach RJ,Detera-Wadleigh SD

更新日期：1996-07-15 00:00:00

abstract：:The expression of plasma proteins changes dramatically as a result of cytokine induction, particularly interleukin-6, and their levels are used as clinical markers of inflammation. miRNAs are important regulators of gene expression and play significant roles in many inflammatory diseases and processes. The interaction...

journal_title：Genomics

authors： Lukowski SW,Fish RJ,Martin-Levilain J,Gonelle-Gispert C,Bühler LH,Maechler P,Dermitzakis ET,Neerman-Arbez M

更新日期：2015-08-01 00:00:00

abstract：:The large number of redundant sequences available in nucleotide databases provides a resource for the identification of polymorphisms. Expressed polymorphisms in X-linked genes can be used to determine the inactivation status of the genes, and polymorphisms in genes that are subject to inactivation can then be used as...

journal_title：Genomics

authors： Kutsche R,Brown CJ

更新日期：2000-04-01 00:00:00

abstract：:Fine mapping followed by candidate gene analysis of erd - a canine hereditary retinal degeneration characterized by aberrant photoreceptor development - established that the disease cosegregates with a SINE insertion in exon 4 of the canine STK38L/NDR2 gene. The mutation removes exon 4 from STK38L transcripts and is p...

journal_title：Genomics

authors： Goldstein O,Kukekova AV,Aguirre GD,Acland GM

更新日期：2010-12-01 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：:Nitric oxide (NO) is an important molecular messenger regulating the functions of a wide variety of cells and tissues. NO is synthesized from L-arginine by a variety of isoforms of the enzyme nitric oxide synthase (NOS). We have used Southern blotting analysis on DNAs obtained from a panel of human-rodent hybrid cell ...

journal_title：Genomics

authors： Xu W,Charles IG,Moncada S,Gorman P,Sheer D,Liu L,Emson P

更新日期：1994-05-15 00:00:00

abstract：:We report a genetic linkage map of the pericentromeric region of the human X chromosome, extending from Xp11 to Xq13. Genetic analysis with five polymorphic markers, including centromeric alpha satellite DNA, spanned a distance of approximately 38 cM. Significant lod scores were obtained with linkage analysis in 26 fa...

journal_title：Genomics

authors： Mahtani MM,Willard HF

更新日期：1988-05-01 00:00:00

abstract：:Na(+)-coupled HCO(3)(-) transporters (NCBTs) of the SLC4 family play critical roles in pH regulation as well as transepithelial HCO(3)(-) transport. We systematically examined, in the mouse reproductive tract tissues, the mRNA expression of five NCBTs as well as the five NBCe1 (Slc4a4) variants NBCe1-A through -E, of ...

journal_title：Genomics

authors： Liu Y,Xu JY,Wang DK,Wang L,Chen LM

更新日期：2011-08-01 00:00:00

abstract：:PKD1, the gene for the chromosome 16-linked form of autosomal dominant polycystic kidney disease, has previously been genetically mapped to an interval bounded by the polymorphic loci Fr3-42/EKMDA2 distally and O327hb/O90a proximally. More recently, 26.6PROX was identified as the closest proximal flanking locus. We se...

journal_title：Genomics

authors： Somlo S,Wirth B,Germino GG,Weinstat-Saslow D,Gillespie GA,Himmelbauer H,Steevens L,Coucke P,Willems P,Bachner L

更新日期：1992-05-01 00:00:00

abstract：:Full-length coding sequences of two novel human cadherin cDNAs were obtained by sequence analysis of several EST clones and 5' and 3' rapid amplification of cDNA ends (RACE) products. Exons for a third cDNA sequence were identified in a public-domain human genomic sequence, and the coding sequence was completed by 3' ...

journal_title：Genomics

authors： Kools P,Van Imschoot G,van Roy F

更新日期：2000-09-15 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：:Intercellular adhesion molecule-1 (ICAM-1) is an integral membrane protein, a member of the immunoglobulin superfamily, and a ligand for LFA-1, a beta 2 leukocyte integrin. ICAM-1 has a tissue distribution similar to that of the major histocompatibility complex class II antigens and is likely to play a role in inflamm...

journal_title：Genomics

authors： Ballantyne CM,Kozak CA,O'Brien WE,Beaudet AL

更新日期：1991-03-01 00:00:00

abstract：:Pulmonary surfactant consists of a complex mixture of phospholipids and several proteins essential to normal respiratory function. Two of the surfactant proteins, SP-A and SP-D, appear to have lectin-like activity relevant to the local phagocytic defense. Using polymerase chain reaction (PCR)-based somatic cell hybrid...

journal_title：Genomics

authors： Kölble K,Lu J,Mole SE,Kaluz S,Reid KB

更新日期：1993-08-01 00:00:00

abstract：:We have used radiation hybrid (RH) mapping and pulsed-field gel electrophoresis (PFGE) to determine the order and positions of 28 DNA markers from the distal region of the long arm of human chromosome 21. The maps generated by these two methods are in good agreement. This study, combined with that of D. R. Cox et al. ...

journal_title：Genomics

authors： Burmeister M,Kim S,Price ER,de Lange T,Tantravahi U,Myers RM,Cox DR

更新日期：1991-01-01 00:00:00

abstract：:We have constructed a high-resolution map of a 6-Mb interval of human chromosome 5, band q31, incorporating 175 sequence tagged sites, of which 33 are genetic polymorphisms and 122 are nonredundant expressed sequences. The map was assembled initially as a YAC contig, incorporating data from radiation hybrid maps. To i...

journal_title：Genomics

authors： Horrigan SK,Bartoloni L,Speer MC,Fulton N,Kravarusic J,Ramesar R,Vance JM,Yamaoka LH,Westbrook CA

更新日期：1999-04-01 00:00:00

abstract：:We analyzed the whole genomes of cecum microbiomes of Ethiopian indigenous chickens from two distinct geographical zones: Afar (AF) district (Dulecha, 730 m above sea level) and Amhara (AM) district (Menz Gera Midir, 3300 m). Through metagenomic analysis we found that microbial populations were mainly dominated by Bac...

journal_title：Genomics

authors： Kumar H,Park W,Lim D,Srikanth K,Kim JM,Jia XZ,Han JL,Hanotte O,Park JE,Oyola SO

更新日期：2020-03-01 00:00:00

abstract：:To refine the linkage map of mouse Chromosome (Chr) 12 and to define better the homology relationships between it and human chrs 2p and 14q, nine new anonymous DNA markers of Chr 12 were identified, and mouse loci homologous to the human D14S17, CHGA, HSPA2, RRM2, TPO, and ZFP50 ("KUP") genes were defined. The inherit...

journal_title：Genomics

authors： Khan F,Clarke V,D'Eustachio P

更新日期：1994-05-01 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：:Spatiotemporal expression of the PAX3 gene is tightly regulated during development. We have isolated and sequenced the 5'-flanking regulatory region of human PAX3. Primer extension and ribonuclease protection mapping revealed that transcription is initiated from a single start site downstream of a TATA-like motif in h...

journal_title：Genomics

authors： Okladnova O,Syagailo YV,Tranitz M,Riederer P,Stöber G,Mössner R,Lesch KP

更新日期：1999-04-01 00:00:00

abstract：:Deficiency of the lysosomal enzyme, N-acetylgalactosamine 6-sulfatase (GALNS;EC 3.1.6.4), results in the storage of the glycosaminoglycans, keratan sulfate and chondroitin 6-sulfate, which leads to the lysosomal storage disorder Morquio A syndrome. Four overlapping genomic clones derived from a chromosome 16-specific ...

journal_title：Genomics

authors： Morris CP,Guo XH,Apostolou S,Hopwood JJ,Scott HS

更新日期：1994-08-01 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：:Ultraconservation has been variously defined to describe sequences that have remained identical or nearly so over long periods of evolution to a degree that is higher than expected for sequences under typical constraints associated with protein-coding sequences, splice sites, or transcription factor binding sites. Mos...

journal_title：Genomics

authors： Rödelsperger C,Köhler S,Schulz MH,Manke T,Bauer S,Robinson PN

更新日期：2009-11-01 00:00:00

abstract：:Neurofibromatosis type 2 (NF2) is a dominantly inherited disease characterized by the development of bilateral vestibular schwannomas and meningiomas, which together represent 30% of primary brain tumors. The NF2 gene, which has recently been isolated, maps to the long arm of human chromosome 22. Using recombinant inb...

journal_title：Genomics

authors： Claudio JO,Malo D,Rouleau GA

更新日期：1994-05-15 00:00:00

abstract：:Mutations in the DKC1 gene are responsible for causing X-linked recessive dyskeratosis congenita (DKC) and a more severe allelic variant of the disease, Hoyeraal-Hreidarsson syndrome. Both diseases are characterized by progressive and fatal bone marrow failure. The nucleolar protein dyskerin is the pseudouridine synth...

journal_title：Genomics

authors： Heiss NS,Bächner D,Salowsky R,Kolb A,Kioschis P,Poustka A

更新日期：2000-07-15 00:00:00