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  • Electronic Resource  (14)
  • 2005-2009  (5)
  • 1995-1999  (3)
  • 1990-1994  (5)
  • 1965-1969  (1)
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  • Electronic Resource  (14)
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  • 1
    Electronic Resource
    Electronic Resource
    Plasma protein levels in normal human fetuses: 13 to 41 weeks' gestation (1993)
    Oxford, UK : Blackwell Publishing Ltd
    BJOG 100 (1993), S. 0 
    Details
    ISSN: 1471-0528
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Objective To establish reference ranges for the levels of alpha-fetoprotein, albumin, prealbumin (transthyretin) alpha-1-antitrypsin, transferrin, ceruloplasmin and total protein in the plasma of normal human fetuses and newborn babies.Design Prospective study of individual normal cases to fulfil objectives.Setting Pathology laboratories of the University of Edinburgh and the biochemistry laboratories of the University of Keele.Subjects Twenty-two normal fetuses 13 to 22 weeks of gestation and 66 babies born between 24 and 41 weeks gestation.Results Albumin is the predominant plasma protein throughout gestation. The levels of alpha-fetoprotein and prealbumin fell significantly with increasing gestation, whereas the concentrations of the other proteins studied increased. The ratios of individual proteins to total protein demonstrated similar trends.Conclusions This study provides developmental profiles of normal human fetal plasma proteins to serve as possible reference data for abnormal fetuses. Declining levels of prealbumin (transthyretin) were unexpected and suggest a functional role for this protein in early pregnancy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1471-0528.1993.tb14313.x
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  • 2
    Electronic Resource
    Electronic Resource
    An Attempt to Map Two Genes for Tuberous Sclerosis Using Novel Two-Point Methods (1991)
    Oxford, UK : Blackwell Publishing Ltd
    Annals of the New York Academy of Sciences 615 (1991), S. 0 
    Details
    ISSN: 1749-6632
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Natural Sciences in General
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1749-6632.1991.tb37771.x
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  • 3
    Electronic Resource
    Electronic Resource
    Genetic Heterogeneity in Tuberous Sclerosis. Study of a Large Collaborative Dataset (1991)
    Oxford, UK : Blackwell Publishing Ltd
    Annals of the New York Academy of Sciences 615 (1991), S. 0 
    Details
    ISSN: 1749-6632
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Natural Sciences in General
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1749-6632.1991.tb37767.x
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  • 4
    Electronic Resource
    Electronic Resource
    Maternal glutathione S-transferase GSTP1 genotype is a specific predictor of phenotype in children with asthma (2005)
    Oxford, UK : Munksgaard International Publishers
    Pediatric allergy and immunology 16 (2005), S. 0 
    Details
    ISSN: 1399-3038
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Maternal factors are known to influence the heritability and expression of asthma and atopy. We report the association of maternal, paternal and proband GSTP1 genotype with lung function in 145 Caucasian children with asthma. GSTP1 Val105/Val105 and Ala114/Val114 genotypes in the child were associated with non-significant increases in lung function (forced expiratory volume in 1 second (FEV1), forced vital capacity (FVC) and the FEV1/FVC ratio). Paternal genotype had no influence on lung function in the child. In contrast, maternal GSTP1 Val105/Val105 genotype was significantly associated with offspring lung function and was strongly predictive of FEV1/FVC (Val105/Val105 105.2%, Ile105/Val105 and Ile105/Ile105 97.9% p = 0.006) and maternal GSTP1 Ala114/Val114 genotype was associated with significantly higher FEV1 (Ala114/Val114 109.0%, Ala114/Ala114 99.0% p = 0.008), and FEV1/FVC ratios (Ala114/Val114 104.1%, Ala114/Ala114 98.2% p = 0.04). The associations between maternal GSTP1 Val105/Val105 genotype and FEV1/FVC and maternal GSTP1 Ala114/Val114 genotype and FEV1 remained significant (p = 0.003 and p = 0.007) after correction for child and maternal atopic status, passive smoke exposure, smoking during pregnancy, individual and paternal GSTP1 genotype and was independent of transmission to the child. These data support the hypothesis that maternal GSTP1 genotype can act as a specific risk factor which has ex utero consequences for children with asthma. As a child's genotype is not independent of maternal genotype, effects seen in candidate gene studies may be due at least in part to this phenomenon.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1399-3038.2005.00249.x
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  • 5
    Electronic Resource
    Electronic Resource
    A framework for genetic service provision for haemophilia and other inherited bleeding disorders (2005)
    Oxford, UK : Blackwell Science Ltd
    Haemophilia 11 (2005), S. 0 
    Details
    ISSN: 1365-2516
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary.  This framework document offers guidance to patients, doctors, nurses, laboratory scientists, funders and hospitals on the provision of clinical and laboratory genetic services for haemophilia. With recent advances in molecular laboratory techniques it is now possible to give the vast majority of individual patients and family members very reliable genetic information. To enable these genetic data to be used for both the optimal treatment of patients with inherited bleeding disorders and for appropriate reproductive decisions in carriers, there needs to be a clear and robust framework for systematically acquiring the necessary clinical, personal, family and laboratory information upon which decisions can be made. This document provides guidance on the range and standards of clinical and laboratory genetic services which should be offered to patients and their families. Included are arrangements for genetic counselling and testing (including consent and confidentially issues), management of early pregnancy, standards for laboratory genetic services, as well as advice on data storage, security and retrieval.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2516.2005.01070.x
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  • 6
    Electronic Resource
    Electronic Resource
    Effects of glutathione S-transferase M1, T1 and P1 on lung function in asthmatic families (2005)
    Oxford, UK : Blackwell Science Ltd
    Clinical & experimental allergy 35 (2005), S. 0 
    Details
    ISSN: 1365-2222
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Rationale Previous data have suggested that glutathione-S-transferase (GST) genotypes are important in determining the rate of lung function growth in childhood. This effect was most marked in Caucasian children with asthma.Objectives We investigated the association of lung function with GSTM1, GSTP1 and GSTT1 genotypes in Caucasian families with asthma.Methods Four hundred and eighteen children and 316 parents from 224 Caucasian families were recruited via a child with asthma, the proband. Associations between lung function and GST genotype were determined using multilevel models.Results There were no observed associations between lung function and GST genotype in parents. However, in the children, the GSTP1 val105/val105 and GSTM1 null genotypes were associated with significantly higher forced expiratory volume in 1 s (FEV1) and FVC values as percentage of predicted. This effect was not statistically significant in the probands but was marked in their siblings in whom GSTP1 val105/val105 was associated with 9.4% higher FEV1 and 10.7% higher FVC (P=0.005 and 0.001, respectively). The GSTM1 null genotype was associated with a 6.7% higher FEV1 and 4.1% higher FVC (P=0.003 and 0.063, respectively). These effects remained significant after correcting for the confounders of individual atopic status, tobacco smoke exposure and familial aggregation of lung function values.Conclusions GSTM1 and GSTP1 genotypes are important determinants of lung function in childhood. The smaller differences seen in probands are predicted by a simple model in which more rapid decline in lung function is seen in these individuals.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2222.2005.02313.x
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  • 7
    Electronic Resource
    Electronic Resource
    Interaction of viral infections with muscarinic receptors (1999)
    Oxford BSL : Blackwell Science Ltd
    Clinical & experimental allergy 29 (1999), S. 0 
    Details
    ISSN: 1365-2222
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Both in humans and in experimental animals, much of the airway hyperresponsiveness that accompanies viral infections is the result of increased reflex bronchoconstriction. The M3 muscarinic receptors on the airway smooth muscle function normally during viral infections so that the direct effects of acetylcholine on the smooth muscle are not altered. In contrast, the M2 muscarinic receptors on the vagal nerve endings, which normally inhibit acetycholine release, are markedly dysfunctional during viral infections. This leads to substantial increases in acetylcholine release and potentiated reflex bronchoconstriction. Multiple mechanisms account for virus-induced M2 receptor dysfunction. Viral neuraminidase may deglycosylate the M2 receptor, decreasing acetylcholine affinity. Furthermore, both viruses and interferon-γ decrease M2 receptor gene expression. Finally, in atopic hosts, viral infection causes M2 receptor dysfunction by activating eosinophils, causing them to release major basic protein which binds to the M2 receptor, functioning as an endogenous antagonist.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2222.1999.00010.x
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  • 8
    Electronic Resource
    Electronic Resource
    Novel polymorphism in the promoter region of the human nerve growth-factor gene (2005)
    Oxford, UK : Blackwell Science Ltd
    International journal of immunogenetics 32 (2005), S. 0 
    Details
    ISSN: 1744-313X
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: We describe a novel T to C transition at position −198 from the transcription start of the human nerve growth-factor (NGF) gene. In British Caucasoid healthy control group that we have genotyped, T and C allele frequencies are 0.633 and 0.367, respectively. This polymorphism affects vitamin D receptor (VDR) binding to its motif in the NGF promoter.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1744-313X.2005.00541.x
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  • 9
    Electronic Resource
    Electronic Resource
    Basal cell carcinoma: from host response and polymorphic variants to tumour suppressor genes (2005)
    Oxford, UK : Blackwell Science Ltd
    Clinical and experimental dermatology 30 (2005), S. 0 
    Details
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: The molecular factors and events that characterize susceptibility and outcome in cutaneous basal cell carcinoma (BCC) have been the focus of much research interest. As a result, we are beginning to understand the complex relationships between exposure to ultraviolet radiation (UVR), host response and the resulting damage to key genes that characterize these tumours. In this review, we will focus on genetic factors that influence susceptibility and outcome. While the search for susceptibility genes has generally resulted in the identification of low penetrance allelic variants, studies on modifier genes influencing outcome variables such as tumour number, age of onset and tumour subtype have identified factors with higher potential impact. Here we will briefly describe some recent work on the genetic basis of the immune response to UVR, the effect of UVR on the generation of reactive oxygen species and their detoxification, and the role of onco- and tumour suppressor genes. Areas for further research are highlighted, together with a consideration of possible applications in clinical practice.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2230.2004.01669.x
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  • 10
    Electronic Resource
    Electronic Resource
    Tylosis oesophageal cancer mapped (1994)
    [s.l.] : Nature Publishing Group
    Nature genetics 8 (1994), S. 319-321 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Sir — Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes, which have been classified into diffuse, punctate, and focal forms1 according to the pattern of hyperkeratosis on the palms and soles. Diffuse pal-moplantar keratodermas can be further sub-divided by the presence ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng1294-319
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