Assignment of a novel protein tyrosine phosphatase gene (Hcph) to mouse chromosome 6.

abstract：:In this study, through linkage analysis of a four-generation Chinese family with multiple members afflicted with DGI (type II), we identified a novel missense mutation in DSPP. The mutation was located in exon 2 at the second nucleotide position of the last codon and resulted in a substitution of a proline with a leuc...

journal_title：Genomics

authors： Li D,Du X,Zhang R,Shen B,Huang Y,Valenzuela RK,Wang B,Zhao H,Liu Z,Li J,Xu Z,Gao L,Ma J

更新日期：2012-04-01 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：:Using the differential display technique, we isolated a cDNA clone encoding the human homolog of rat perilipin, a unique protein associated with intracellular neutral lipid droplets in adipocytes and steroidogenic cells. The full cDNA contains an open reading frame of 1566 nucleotides encoding 522 amino acids and bear...

journal_title：Genomics

authors： Nishiu J,Tanaka T,Nakamura Y

更新日期：1998-03-01 00:00:00

abstract：:The complexity of the somatic embryogenesis (SE) transcriptome suggests that numerous molecules are involved. To understand better the functional genomics of complex molecular systems during this important reprogramming process, we used bioinformatics and a pathway database to construct a draft network based on transc...

journal_title：Genomics

authors： Zeng F,Zhang X,Cheng L,Hu L,Zhu L,Cao J,Guo X

更新日期：2007-11-01 00:00:00

abstract：:We have established PCR assays for the genes coding for the major proteins of the desmosome type of cell junction, the desmosomal cadherins DGI (desmoglein) and DGII/III (desmocollins), and the plaque proteins DPI/II (desmoplakin) and DPIII (plakoglobin) and used them to test human-mouse and human-rat somatic cell hyb...

journal_title：Genomics

authors： Arnemann J,Spurr NK,Wheeler GN,Parker AE,Buxton RS

更新日期：1991-07-01 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 vast majority of small-deletion syndromes are caused by haploinsufficiency of one or several genes and are transmitted as dominant traits. We have previously identified a homozygous deletion of 179,311 bp on chromosome 2p21 as the cause of a unique syndrome, inherited in a recessive mode, consisting of cystinuria,...

journal_title：Genomics

authors： Parvari R,Gonen Y,Alshafee I,Buriakovsky S,Regev K,Hershkovitz E

更新日期：2005-08-01 00:00:00

abstract：:In our previous studies, diploid and triploid hybrids have been detected from the hybridization of Epinephelus coioides♀ × E. lanceolatus♂. The triploid groupers have been found to be delayed in gonadal development, but the mechanism remains poorly understood. In this study, we examined the gonadal development, assaye...

journal_title：Genomics

authors： Xiao L,Wang D,Guo Y,Tang Z,Liu Q,Li S,Zhang Y,Lin H

更新日期：2019-05-01 00:00:00

abstract：:To resolve a candidate chromosome region on the middle part of bovine chromosome 6 (BTA6) containing several different quantitative trait locus (QTL) intervals, we constructed a high-resolution, integrated, comprehensive, and comparative map using a 12,000-rad, whole-genome, cattle-hamster radiation hybrid (RH) panel....

journal_title：Genomics

authors： Weikard R,Kühn C,Goldammer T,Laurent P,Womack JE,Schwerin M

更新日期：2002-06-01 00:00:00

abstract：:A linkage analysis with chromosome 9 markers was performed in 33 families with Friedreich ataxia (FA). Linkage with D9S15, previously established by S. Chamberlain et al. (1988, Nature London 334:248-249) was confirmed in our sample (z(theta) = 6.82 at theta = 0.02) while INFB (interferon-beta gene) shows looser linka...

journal_title：Genomics

authors： Fujita R,Agid Y,Trouillas P,Seck A,Tommasi-Davenas C,Driesel AJ,Olek K,Grzeschik KH,Nakamura Y,Mandel JL,Hanauer A

更新日期：1989-01-01 00:00:00

abstract：:Genotypes and allelic frequencies of TPH2, 5-HTTLPR, the 5-HTT (SLC6A4) intron 2 variable-number tandem repeat (VNTR) region, and the MAOA VNTR region were determined in brain-stem samples of 20 "genuine" SIDS cases and compared with results obtained from 150 healthy controls. The SNP G1463A responsible for 80% functi...

journal_title：Genomics

authors： Nonnis Marzano F,Maldini M,Filonzi L,Lavezzi AM,Parmigiani S,Magnani C,Bevilacqua G,Matturri L

更新日期：2008-06-01 00:00:00

abstract：:Point mutations in the factor VIII gene are responsible for the majority of cases of hemophilia A, and only a small fraction of these mutations can be recognized by restriction endonuclease analysis. We have now used polymerase chain reaction and denaturing gradient gel electrophoresis to characterize single nucleotid...

journal_title：Genomics

authors： Traystman MD,Higuchi M,Kasper CK,Antonarakis SE,Kazazian HH Jr

更新日期：1990-02-01 00:00:00

abstract：:CTP:phosphocholine cytidylyltransferase is the rate-controlling enzyme in phosphatidylcholine biosynthesis and is essential for the survival of eukaryotic cells. The murine cDNA for the cytidylyltransferase was cloned and sequenced. A genomic clone was isolated and the chromosomal location of the Ctpct locus determine...

journal_title：Genomics

authors： Rutherford MS,Rock CO,Jenkins NA,Gilbert DJ,Tessner TG,Copeland NG,Jackowski S

更新日期：1993-12-01 00:00:00

abstract：:Recently, we reported genetic linkage in Pima Indians between the acute insulin response to an intravenous glucose challenge and the short tandem repeat marker D1S198, indicative of a genetic element in this region that controls the phenotypic variation in the first phase of insulin secretion. As a first step to isola...

journal_title：Genomics

authors： Thompson DB,Sutherland J,Apel W,Ossowski V

更新日期：1997-01-15 00:00:00

abstract：:Insulin-like growth factor binding proteins (IGFBPs) constitute a family of at least six secreted proteins that bind insulin-like growth factors I and II (IGF-I and -II) and are capable of modifying IGF actions on target cells. We previously have purified an approximately 29-kDa IGFBP that is secreted by myoblasts dur...

journal_title：Genomics

authors： Kou K,Jenkins NA,Gilbert DJ,Copeland NG,Rotwein P

更新日期：1994-04-01 00:00:00

abstract：:Defects in the human lysosomal acid lipase gene are responsible for cholesteryl ester storage disease (CESD) and Wolman disease. Exon skipping as the cause for CESD has been demonstrated. We present here a summary of the exon structure of the entire human lysosomal acid lipase gene consisting of 10 exons, together wit...

journal_title：Genomics

authors： Aslanidis C,Klima H,Lackner KJ,Schmitz G

更新日期：1994-03-15 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：:The GM2 activator locus (GM2A) had previously been considered as a candidate gene for some forms of spinal muscular atrophy (SMA; mapped to 5q11.2-q13.3). It was eliminated as a possible candidate because PCR-based mapping failed to localize the gene to chromosome 5, as was previously reported using an ELISA-based met...

journal_title：Genomics

authors： Heng HH,Xie B,Shi XM,Tsui LC,Mahuran DJ

更新日期：1993-11-01 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

abstract：:A method was recently developed for the specific amplification of human DNA sequences from interspecific somatic cell hybrids by the polymerase chain reaction (PCR) using primers directed to Alu, a short interspersed repeat element (SINE). We now show human-specific amplification using a primer to the 3' end of the hu...

journal_title：Genomics

authors： Ledbetter SA,Nelson DL,Warren ST,Ledbetter DH

更新日期：1990-03-01 00:00:00

abstract：:Cataract Tohoku (Cat(Tohm)) is a dominant cataract mutation that leads to severe degeneration of lens fiber cells. Linkage analysis showed that the Cat(Tohm) mutation is located on mouse chromosome 10, close to the gene for aquaporin-0 (Aqp0), which encodes a membrane protein that is expressed specifically in lens fib...

journal_title：Genomics

authors： Okamura T,Miyoshi I,Takahashi K,Mototani Y,Ishigaki S,Kon Y,Kasai N

更新日期：2003-04-01 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：:Salinity is a major limiting factor in crop production. Exogenous spermidine (spd) effectively ameliorates salt injury, though the underlying molecular mechanism is poorly understood. We have used a suppression subtractive hybridization method to construct a cDNA library that has identified up-regulated genes from ric...

journal_title：Genomics

authors： Saha J,Giri K,Roy S

更新日期：2020-11-01 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：: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：:The genome sequence of Mycobacterium tuberculosis strain H37Rv is an important and valuable reference point in the study of M. tuberculosis phylogeny, molecular epidemiology, and drug-resistance mutations. However, it is becoming apparent that use of H37Rv as a sole reference genome in analysing clinical isolates pres...

journal_title：Genomics

authors： O'Toole RF,Gautam SS

更新日期：2017-10-01 00:00:00

abstract：:We report the results of a chemogenomic profiling aimed to explore the mode of action of a quinolic analogue of the p300 histone acetyltransferase (HAT) inhibitor anacardic acid, named MC1626. This compound reduced histone H3 acetylation in a dose-dependent manner and the HATs Gcn5 and Rtt109, which specifically targe...

journal_title：Genomics

authors： Ruotolo R,Tosi F,Vernarecci S,Ballario P,Mai A,Filetici P,Ottonello S

更新日期：2010-11-01 00:00:00

abstract：:A cosmid library has been constructed with DNA isolated from a mouse/human hybrid cell line designated A15, which was previously characterized and shown to retain chromosome 15 as the only human material. The library was generated and stored as 34 independent pools of primary colonies at 8-10,000 colonies per pool. Sc...

journal_title：Genomics

authors： McDaniel LD,Zhang B,Kubiczek E,Ritter M,Huang J,Berard C,Leana-Cox J,Schwartz S,Schultz RA

更新日期：1997-02-15 00:00:00

abstract：:Expression of p107, a protein with homology to the retinoblastoma tumor suppressor (pRB), was monitored during murine development. Northern blot tissue surveys identified two transcripts of 4.9 and 2.4 kb that hybridized to a p107 cDNA clone. Expression of both transcripts was detected in fetal tissues, with particula...

journal_title：Genomics

authors： Kim KK,Soonpaa MH,Wang H,Field LJ

更新日期：1995-08-10 00:00:00

abstract：:We present a novel method, based on the hybridization of allele-specific oligonucleotide probes, that allows the specific detection of chromosome 21 alpha-satellite sequences. Absence of informative polymorphic markers from the centromeric region of chromosome 21 has constituted one of the difficulties in studying the...

journal_title：Genomics

authors： Maratou K,Siddique Y,Kessling AM,Davies GE

更新日期：1999-05-01 00:00:00