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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Somatic cell and molecular genetics 19 (1993), S. 65-71 
    ISSN: 1572-9931
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The expression of mouseZfx, Rps4, Ube1x, andXist was evaluated in hamstermouse somatic cell hybrids containing either an active or an inactive mouse X chromosome using polymerase chain reaction of reverse transcribed RNA (RT-PCR). The results showed thatZfx, Rps4, andUbe1x are expressed exclusively from the active mouse X, whileXist is expressed exclusively from the inactive X. These findings confirm the pattern of X inactivation for these mouse genes reported previously based on expression in somatic tissues of F1 females from interspecific crosses. These results demonstrate the existence of differences between human and mouse X inactivation, as the corresponding human genes,ZFX, RPS4X, andUBE1 escape X inactivation.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Somatic cell and molecular genetics 25 (1999), S. 67-77 
    ISSN: 1572-9931
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The human alanine:glyoxylate aminotransferase gene (AGXT) has been cloned and characterized in detail, and various mutant alleles have been shown to be responsible for primary hyperoxaluria type 1 (PH1). However, advances in understanding the basic mechanisms of this rare human disease have been hampered by the lack of a suitable animal model. Although several AGXT homologous genes have been cloned in a number of mammalian species, none of them allows the level of genetic experimentation that current methods provide for mouse embryo manipulation. Thus, we have carried out the molecular cloning and analysis of the mouse Agxt1 gene, as a necessary first step towards the generation of a mouse model for PH1. The full-length mouse Agxt1 cDNA is 1545 bp long, and encodes a 414 amino acid protein. Mouse Agxt1 is highly similar to its rat counterpart both at the nucleotide (91% identity) and the amino acid (92% identity) levels. Like its rat homologue, the larger mRNA species transcribed encodes a conserved amino terminal end characteristic of AGXT forms known to be targeted to the mitochondria. Mouse Agxt1 expression is restricted to the liver, and in vitro transfection of AGXT(−) cells with the cloned Agxt1 cDNA confers AGXT enzymatic activity. At the genomic level, mouse Agxt1 contains 11 exons, spannig 11 Kb, and it maps to the central portion of chromosome 1, a region of known synteny with human distal 2q, where AGXT has been previously mapped (2q36–37).
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Mammalian genome 8 (1997), S. 756-759 
    ISSN: 1432-1777
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. The DAZ genes on the human Y Chromosome (Chr) are strong candidates for the azoospermia factor AZF. They are frequently deleted in azoospermic or severely oligospermic males and are expressed exclusively in germ cells. In addition, the DAZ genes share a high degree of similarity with a Drosophila male infertility gene, boule. The predicted DAZ proteins contain an RNA recognition motif (RRM), and multiple copies of a repeat (the DAZ repeat) in tandem array. To understand the DAZ gene family and its expression, the DAZ genomic structure and RNA transcripts in numerous males, as well as several DAZ cDNA clones were analyzed. The results of genomic Southern blot showed that each male contains multiple DAZ genes with varying numbers of DAZ repeats, and that the copy number of the DAZ repeats are polymorphic in the population. The presence of multiple species of DAZ transcripts with different copy number and arrangement of the DAZ repeats in an individual suggests that more than one DAZ gene are transcribed. The existence of multiple functional DAZ genes complicates the analysis of genotype/phenotype correlations among males with varying sperm counts.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature genetics 13 (1996), S. 83-86 
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] We designed degenerate primers for the amino terminus (NFLLI-MADDLG) of rat steroid sulphatase12 and the conserved sulphatase domain (GKWHLG), and performed two rounds of amplification ‘hemi-nested’ on rat liver cDNA. After cloning and sequencing the 321-bp PCR products, various cDNA ...
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  • 5
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature genetics 32 (2002), S. 443-447 
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Mice that are homozygous with respect to the progressive motor neuronopathy (pmn) mutation (chromosome 13) develop a progressive caudio-cranial degeneration of their motor axons from the age of two weeks and die four to six weeks after birth. The mutation is fully penetrant, and expressivity does ...
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature genetics 7 (1994), S. 491-496 
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Among a number of genes that escape X–chromosome inactivation in humans, three have been evaluated in mice and unexpectedly all three are subject to X–inactivation. We report here the cloning and expression studies of a novel mouse gene, Xe169, and show that it escapes ...
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  • 7
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature genetics 2 (1992), S. 196-199 
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Mammalian X–chromosome inactivation is thought to be controlled by the X inactivation centre (XIC, X–controlling element –Xce– in mice). A human gene, XIST and its mouse counterpart, Xist, which map to the XIC/Xce, are expressed exclusively from inactive X chromosomes, ...
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  • 8
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature genetics 13 (1996), S. 78-82 
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] The pseudoautosomal region (PAR) is a segment of shared homology between the X and Y chromosomes. Here we report physical linkage of three mouse PAR probes: DXYHgul, DXYMov15 and (TTAGGG)n. Steroid sulphatase (Sts) maps distal to these three probes, indicating that there is an internal array of the ...
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  • 9
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Science Ltd
    Helicobacter 10 (2005), S. 0 
    ISSN: 1523-5378
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background.  Distinct human leukocyte antigen (HLA)-DQ genes have been associated with an increased or reduced risk for gastric cancer, but its association with Helicobacter pylori status is controversial. In the present study we evaluated the influence of host HLA DQA1 and DQB1 loci, H. pylori genotype, and socio-economic factors on predicting H. pylori-associated distal gastric cancer in a southern European population.Material and methods.  In a prospective case–control (1 : 2) study, 42 patients with H. pylori-associated distal gastric cancer were matched by age (±5 years) and gender to 84 patients with H. pylori-associated benign gastroduodenal disease (controls). The level of education received, smoking status, alcohol consumption, origin and familial history of gastric cancer were registered at inclusion. HLA DQA1 and DQB1 typing and H. pylori genotyping were determined from endoscopic gastric mucosal biopsies.Results.  Compared with control patients, a positive association with cagA+ strains (p 〈 .002) and a negative association with vacA-s2 strains (p 〈 .02) was found in patients with distal gastric cancer. At the DQB1 locus, the *0602 allele was more frequent in distal gastric cancer than in controls (26.2% vs. 4.8%; p 〈 .005). After correction for multiple comparisons (exact multiple regression analysis) the cagA+ status and the DQB1*0602 allele were associated with an increased distal gastric cancer risk (OR 3.7; 95% CI = 1.33–12.26 and OR 4.82; 95% CI = 1.24–19.83, respectively) whereas the vacA-s2 status was associated with a decreased risk (OR 0.33; 95% CI = 0.10–0.94).Conclusion.  Our findings suggest that in the H. pylori-infected southern European population, the cagA genotype and the HLA-DQB1*0602 gene confer an increased risk for distal gastric cancer.
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  • 10
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Science Ltd
    ISSN: 1460-9568
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Although dopamine has been considered as the only neurotransmitter in the nigrostriatal pathway, studies carried out in the last two decades have suggested the existence of a nondopaminergic nigrostriatal projection, and more recently, γ-aminobutyric acid (GABA) has been identified as its neurotransmitter. In this study, we used the combination of immunocytochemistry for tyrosine hydroxylase (TH; a marker of dopaminergic neurons), in situ hybridization (ISH) for two different isoforms of glutamic acid decarboxylase (GAD65 and GAD67, the rate-limiting enzyme in GABA synthesis) and retrograde tracing techniques to investigate the possible existence of nigrostriatal neurons containing both neurotransmitters (dopamine and GABA) in the rat. Our results revealed that approximately 10% of mesostriatal dopaminergic neurons, most of them lying in the medial region of the substantia nigra pars compacta (SNC) and neighbouring A10 region, contain GAD65 mRNA. These findings reveal a third nigrostriatal pathway formed by dopaminergic/GABAergic neurons. Contrasting with the idea that in the basal ganglia, dopamine and GABA are released from different cell populations, the results suggest a more complex dopamine/GABA interaction than previously assumed, probably including cotransmission.
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