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Genetic basis of acquired C4 deficiency
Clinical Genetics, 1979A study of the family of a patient who had an SLE‐like syndrome and an extremely low serum C4 revealed an inheritance of C4 types and HLA region markers which indicated that the patient had 60–70 % of “normal” C4 level prior to the onset of disease.
J J, Cream +4 more
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Genetic Mechanisms of Surfactant Deficiency
Neonatology, 2004The production of pulmonary surfactant is necessary to maintain alveolar stability and normal lung function. Mutations in three different genes important for surfactant production and function have now been recognized to result in surfactant deficiency and acute and/or chronic lung disease.
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Molecular genetics of colour vision deficiencies
Clinical and Experimental Optometry, 2004The normal X-chromosome-linked color-vision gene array is composed of a single long-wave-sensitive (L-) pigment gene followed by one or more middle-wave-sensitive (M-) pigment genes. The expression of these genes to form L- or M-cones is controlled by the proximal promoter and by the locus control region.
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The Genetics of IgA Deficiency
1970Publisher Summary This chapter elaborates the genetics of IgA deficiency. A variable degree of IgA deficiency is present in all forms of a- or hypogammaglobulinemia either because of increased catabolism or decreased synthesis. The latter mechanism operates in the primary immune deficiencies.
P.A. CRABBÉ, J.F. HEREMANS
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The molecular genetics of growth hormone deficiency
Human Genetics, 1998Although most cases of short stature associated with growth hormone (GH) deficiency are sporadic and idiopathic, some 5-30% have an affected first degree relative consistent with a genetic aetiology for the condition. Several different types of mutational lesion in the pituitary-expressed growth hormone (GH1) gene have been described in affected ...
A M, Procter, J A, Phillips, D N, Cooper
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Molecular genetics of human antithrombin deficiency
Human Mutation, 1996Human antithrombin is the major plasma inhibitor of thrombin both in the presence and absence of heparin. Its physiological importance is emphasised by the recurrent thromboses that individuals with a deficient or functionally abnormal protein are prone to develop. Such deficiencies are estimated to affect as many as 1:630 of the general population and
D J, Perry, R W, Carrell
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Genetic CD21 deficiency is associated with hypogammaglobulinemia
Journal of Allergy and Clinical Immunology, 2012Complement receptor 2 (CR2/CD21) is part of the B-cell coreceptor and expressed by mature B cells and follicular dendritic cells. CD21 is a receptor for C3d-opsonized immune complexes and enhances antigen-specific B-cell responses.Genetic inactivation of the murine CR2 locus results in impaired humoral immune responses. Here we report the first case of
Jens, Thiel +22 more
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Genetic Aspects of Immunoglobulin A Deficiency
1990IgA deficiency is one of the most common of all immune defects. While it is often not associated with clinical illness, presumably due to compensation from other sectors of the immune system, IgA-deficient individuals are distinctly more likely to become ill and have one or more of specific groups of diseases.
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Treatment of Genetic Hormonal Deficiencies by Nicotine
JAMA: The Journal of the American Medical Association, 1985To the Editor.— It is not clear in the letters by Berman and Hogue 1 and by Sexton and Hebel 2 concerning the relationship between maternal cigarette smoking and infant birth weight that the authors understand that biologic causality cannot be established by statistical evidence alone. 3,4 Correctly used, statistical methods can reject hypotheses, but
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2018
CD21 (complement receptor 2, CR2) deficiency has been first described in 2012 by Thiel et al. in a single patient. To date, three further patients have been reported. CD21 deficiency is caused by compound heterozygous or homozygous mutations in the CD21 gene.
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CD21 (complement receptor 2, CR2) deficiency has been first described in 2012 by Thiel et al. in a single patient. To date, three further patients have been reported. CD21 deficiency is caused by compound heterozygous or homozygous mutations in the CD21 gene.
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