abstract：:The desmogleins, together with the desmocollins, both members of the cadherin superfamily, are the adhesive proteins of the desmosome type of cell junction, characteristically found in epithelial cells. Three different human desmoglein isoforms are encoded by separate genes (DSG1, DSG2, and DSG3) located on chromosome...

journal_title：Genomics

authors： Simrak D,Cowley CM,Buxton RS,Arnemann J

更新日期：1995-01-20 00:00:00

abstract：:The E2F transcription factor plays an important regulatory role in cell proliferation, mediating the expression of genes whose products are essential for inducing resting cells to enter the cell cycle and synthesize DNA. To investigate the possible involvement of E2F in hematopoietic malignancies, we isolated genomic ...

journal_title：Genomics

authors： Saito M,Helin K,Valentine MB,Griffith BB,Willman CL,Harlow E,Look AT

更新日期：1995-01-01 00:00:00

abstract：:The ky mouse mutant, kyphoscoliosis, exhibits a degenerative muscle disease resulting in chronic deformation of the spinal column. Using an interspecific backcross segregating the ky mutation, we have mapped the ky locus to a small region of mouse chromosome 9. ky is nonrecombinant with the microsatellites D9Mit24 and...

journal_title：Genomics

authors： Skynner MJ,Gangadharan U,Coulton GR,Mason RM,Nikitopoulou A,Brown SD,Blanco G

更新日期：1995-01-01 00:00:00

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：:Transport proteins have essential functions in the uptake of neurotransmitters and neuromodulators. We have mapped the gene encoding the taurine transporter, Taut, to the central region of mouse chromosome 6. Analysis of a cross segregating the neurological mutant mnd2 excluded Taut as a candidate gene for this closel...

journal_title：Genomics

authors： Patel A,Rochelle JM,Jones JM,Sumegi J,Uhl GR,Seldin MF,Meisler MH,Gregor P

更新日期：1995-01-01 00:00:00

abstract：:Neurofibromatosis 1 maps to chromosome band 17q11.2, and the NF1 locus has been partially characterized. Even though the full-length NF1 cDNA has been sequenced, the complete genomic structure of the NF1 gene has not been elucidated. The 5' end of NF1 is embedded in a CpG island containing a NotI restriction site, and...

journal_title：Genomics

authors： Li Y,O'Connell P,Breidenbach HH,Cawthon R,Stevens J,Xu G,Neil S,Robertson M,White R,Viskochil D

更新日期：1995-01-01 00:00:00

abstract：:8-Oxo-dGTP (8-oxo-7,8-dihydrodeoxyguanosine triphosphate) is produced by active oxygen species in the nucleotide pool of the cell and can be incorporated into cellular DNA. Human cells contain enzyme activity that hydrolyzes 8-oxo-dGTP to 8-oxo-dGMP, thereby preventing occurrence of mutations, caused by misincorporati...

journal_title：Genomics

authors： Furuichi M,Yoshida MC,Oda H,Tajiri T,Nakabeppu Y,Tsuzuki T,Sekiguchi M

更新日期：1994-12-01 00:00:00

abstract：:The deletion of the short arm of chromosome 5 is associated with the cri-du-chat syndrome. In addition, loss of this portion of a chromosome is a common cytogenetic marker in a number of malignancies. However, to date, no genes associated with these disorders have been identified. Physical maps are the first step in i...

journal_title：Genomics

authors： Gersh M,Goodart SA,Overhauser J

更新日期：1994-12-01 00:00:00

abstract：:The acyl-CoA dehydrogenases (ACDs) are a family of mitochondrial enzymes that oxidize straight chain or branched chain acyl-CoAs in the metabolism of fatty acids or branched chain amino acids. Deficiencies in members of this gene family are important causes of human disease. A cDNA encoding the human precursor for a n...

journal_title：Genomics

authors： Rozen R,Vockley J,Zhou L,Milos R,Willard J,Fu K,Vicanek C,Low-Nang L,Torban E,Fournier B

更新日期：1994-11-15 00:00:00

abstract：:To facilitate the practical application of highly efficient semiautomated methods for general application in genomic analyses, we have developed a fluorescence-based microsatellite marker resource. Ninety highly polymorphic microsatellite markers were combined to provide a rapid, accurate, and highly efficient initial...

journal_title：Genomics

authors： Levitt RC,Kiser MB,Dragwa C,Jedlicka AE,Xu J,Meyers DA,Hudson JR

更新日期：1994-11-15 00:00:00

abstract：:One hundred nineteen YACs were assembled into 6 contigs spanning about 7.1 Mb of Xq28. The contigs were formatted with 65 STSs and 136 hybridization probes and were extensive enough to be aligned and oriented by published genetic linkage and somatic cell hybrid panel data. Selected YACs from the entire region were map...

journal_title：Genomics

authors： Palmieri G,Romano G,Ciccodicola A,Casamassimi A,Campanile C,Esposito T,Cappa V,Lania A,Johnson S,Reinbold R

更新日期：1994-11-01 00:00:00

abstract：:Cri-du-chat is a chromosomal deletion syndrome characterized by partial deletion of the short arm of chromosome 5. The clinical symptoms include growth and mental retardation, microcephaly, hypertelorism, epicanthal folds, hypotonia, and a high-pitched monochromatic cry that is usually considered diagnostic for the sy...

journal_title：Genomics

authors： Goodart SA,Simmons AD,Grady D,Rojas K,Moyzis RK,Lovett M,Overhauser J

更新日期：1994-11-01 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：:One hundred forty-nine chromosome 15 loci were mapped by PCR with respect to chromosome breakpoints in three somatic cell hybrids retaining total or part of chromosome 15 and to a 10-Mb YAC contig. This chromosome was subdivided into 5 regions, yielding an average resolution of more than 1 sequence tagged site per meg...

journal_title：Genomics

authors： Richard I,Broux O,Chiannilkulchai N,Fougerousse F,Allamand V,Bourg N,Brenguier L,Devaud C,Pasturaud P,Roudaut C

更新日期：1994-10-01 00:00:00

abstract：:The gene encoding the human type I pituitary adenylate cyclase activating polypeptide receptor (ADCYAP1R1) was mapped to chromosome 7 by PCR analysis of genomic DNA from a human/rodent somatic cell hybrid mapping panel. This assignment was confirmed and the gene localized to chromosome band 7p14 by fluorescence in sit...

journal_title：Genomics

authors： Stoffel M,Espinosa R 3rd,Trabb JB,Le Beau MM,Bell GI

更新日期：1994-10-01 00:00:00

abstract：:An area of 500 kb at the proximal end of the polycystic kidney disease 1 (PKD1) region has been mapped in detail, with 260 kb cloned in cosmids. The area cloned from normal individuals contains two homologous but divergent regions each of 75 kb, including the previously described marker 26-6. Pulsed-field gel electrop...

journal_title：Genomics

authors： Harris PC,Thomas S,MacCarthy AB,Stallings RL,Breuning MH,Jenne DE,Fink TM,Buckle VJ,Ratcliffe PJ,Ward CJ

更新日期：1994-09-15 00:00:00

abstract：:Cosmid walking of about 250 kb from MHC class III gene CYP21 to class II was conducted. The gene for receptor of advanced glycosylation end products of proteins (RAGE, a member of immunoglobulin superfamily molecules), the PBX2 homeobox gene designated HOX12, and the human counterpart of the mouse mammary tumor gene i...

journal_title：Genomics

authors： Sugaya K,Fukagawa T,Matsumoto K,Mita K,Takahashi E,Ando A,Inoko H,Ikemura T

更新日期：1994-09-15 00:00:00

abstract：:We report the cDNA sequence for the bovine gene for fibrillin corresponding to the human gene, fibrillin 1 (FBN1), and the localization of the gene to bovine chromosome 10 (syntenic group U5). The identity between the human and bovine sequences is 97.8% at the amino acid level and 92% at the nucleotide level. The bovi...

journal_title：Genomics

authors： Tilstra DJ,Li L,Potter KA,Womack J,Byers PH

更新日期：1994-09-15 00:00:00

abstract：:The complete coding sequence for mouse tropoelastin was obtained from overlapping reverse transcriptase polymerase chain reaction (PCR) amplimers. These cDNA fragments were derived from mouse tropoelastin mRNA using PCR oligomers complementary to conserved domains within rat tropoelastin mRNA. A comparison of coding d...

journal_title：Genomics

authors： Wydner KS,Sechler JL,Boyd CD,Passmore HC

更新日期：1994-09-01 00:00:00

abstract：:DNA libraries often contain very large numbers of clones (from 1000 up to 700,000). Since at present it is impossible to analyze all of these clones, usually statistical samples comprising less than 100 clones are tested. The quality of the library is then assessed by linear extrapolation. Occasionally, full coverage ...

journal_title：Genomics

authors： Köllner M,Greulich KO

更新日期：1994-09-01 00:00:00

abstract：:To increase the number of markers on distal mouse chromosome 4, knowledge of the synteny homology between this region and human chromosome 1p (HSA1p) was used to identify candidate homologous mouse genes. Ten probes corresponding to loci on human chromosome 1p were tested to reveal polymorphisms between C57BL/6 and DB...

journal_title：Genomics

authors： McClive PJ,Morahan G

更新日期：1994-09-01 00:00:00

abstract：:The human EWS gene encodes a putative RNA binding protein. As a result of acquired chromosome rearrangement, the N-terminal portion of the EWS protein is fused to the DNA binding domain of either FLI-1 or ERG in the Ewing family of tumors and to the DNA binding domain of ATF1 in malignant melanoma of soft parts. We ha...

journal_title：Genomics

authors： Plougastel B,Mattei MG,Thomas G,Delattre O

更新日期：1994-09-01 00:00:00

abstract：:We have isolated and characterized genomic clones containing the mouse myelin/oligodendrocyte glycoprotein (MOG) gene. It spans a region of 12.5 kb and consists of eight exons. Its exon-intron structure differs from that of classical MHC-class I genes, with which it is linked in the mouse genome. Nucleotide sequencing...

journal_title：Genomics

authors： Daubas P,Pham-Dinh D,Dautigny A

更新日期：1994-09-01 00:00:00

abstract：:Omitting 1137 loci that are included in the location database but have only cytogenetic assignment, there are 605 loci in the integrated map that synthesizes physical and genetic data and subsumes a composite physical location, cytogenetic and regional assignments, mouse homology, rank, and references. With error filt...

journal_title：Genomics

authors： Wang LH,Collins A,Lawrence S,Keats BJ,Morton NE

更新日期：1994-08-01 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：:The major histocompatibility complex (MHC) class I region has been shown to be associated with a variety of immune and nonimmune disorders. In an effort to initiate steps designed to identify the idiopathic hemochromatosis disease gene (HFE), we have cloned and mapped two expressed messages using probes from the HLA-H...

journal_title：Genomics

authors： Venditti CP,Harris JM,Geraghty DE,Chorney MJ

更新日期：1994-07-15 00:00:00

abstract：:The human homeobox gene HLX1 appears to be involved in hemopoietic development and may represent a candidate gene for various developmental or hemopoietic disorders. We have isolated genomic clones for the gene, determined its intron-exon organization, and confirmed its map location on chromosome 1q41-q42. The transcr...

journal_title：Genomics

authors： Kennedy MA,Rayner JC,Morris CM

更新日期：1994-07-15 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：:3',5'-Cyclic guanosine monophosphate is the intracellular second messenger regulating phototransduction in mammals. The level of cGMP in photoreceptor cells is controlled by the cGMP-hydrolyzing enzyme cGMP phosphodiesterase and the cGMP-producing enzyme guanylate cyclase. Identification of a photoreceptor-specific gu...

journal_title：Genomics

authors： Oliveira L,Miniou P,Viegas-Pequignot E,Rozet JM,Dollfus H,Pittler SJ

更新日期：1994-07-15 00:00:00

abstract：:Human chromosome 11 harbors many genes of medical significance and cancer-related rearrangements. The availability of cloned DNA in cosmids and in yeast artificial chromosomes (YACs), combined with fluorescence in situ hybridization analysis, has led to the cloning of genes at sites of chromosomal breakpoints in acute...

journal_title：Genomics

authors： Selleri L,Giovannini M,Hermanson GG,Romo A,Quackenbush J,Penny L,Khristich JV,Evans GA

更新日期：1994-07-01 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：: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：:We have determined the chromosomal localization of four human homeobox-containing genes, EMX1, EMX2, OTX1, and OTX2, related to Drosophila genes expressed in the developing head of the fly. Murine homologs of these genes are expressed in specific nested domains in the developing rostral brain of midgestation embryos. ...

journal_title：Genomics

authors： Kastury K,Druck T,Huebner K,Barletta C,Acampora D,Simeone A,Faiella A,Boncinelli E

更新日期：1994-07-01 00:00:00

abstract：:Using a panel of patient cell lines with chromosomal breakpoints, we constructed a physical map for the short arm of human chromosome 11. We focused on 11p15, a chromosome band harboring at least 25 known genes and associated with the Beckwith-Wiedemann syndrome, several childhood tumors, and genomic imprinting. This ...

journal_title：Genomics

authors： Redeker E,Hoovers JM,Alders M,van Moorsel CJ,Ivens AC,Gregory S,Kalikin L,Bliek J,de Galan L,van den Bogaard R

更新日期：1994-06-01 00:00:00

abstract：:We describe here a new type of X-linked liver glycogen storage disease. The main symptoms include liver enlargement and growth retardation. The clinical and biochemical abnormalities of this glycogenosis are similar to those of classical X-linked liver glycogenosis due to phosphorylase kinase deficiency (XLG). However...

journal_title：Genomics

authors： Hendrickx J,Coucke P,Hors-Cayla MC,Smit GP,Shin YS,Deutsch J,Smeitink J,Berger R,Lee P,Fernandes J

更新日期：1994-06-01 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：:Calcyclin is a member of the S100 family of proteins, many of which are encoded by genes that have been localized to the proximal long arm of human chromosome 1 (bands q21-q22). A 450-kb yeast artificial chromosome clone containing the human calcyclin gene was identified by PCR screening and used as a probe for fluore...

journal_title：Genomics

authors： Hardas BD,Zhang J,Trent JM,Elder JT

更新日期：1994-05-15 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：: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：:Recent studies on the molecular mechanisms controlling the mammalian cell cycle have disclosed a large family of cdc2-related serine/threonine kinases. Among this gene family, the PCTAIRE protein kinases comprise a distinct subfamily of unknown cellular function. To analyze the genomic structure and chromosomal locati...

journal_title：Genomics

authors： Okuda T,Valentine VA,Shapiro DN,Downing JR

更新日期：1994-05-01 00:00:00