Disease relevance of Deficiency Diseases

• These findings provide insight into pathomechanisms and may have therapeutic relevance for the human SSADH deficiency disease and GHB overdose and toxicity [1].
• Feldman et al., however, may have been prophetic when he commented; "If this anti-glucocorticoid effect of progesterone also holds true in bone, then postmenopausal osteoporosis may be, in part, a progesterone deficiency disease."[2]
• Mutations in the DDB2 subunit have been detected in patients suffering from the repair deficiency disease xeroderma pigmentosum (group E) [3].
• We detected this endonuclease activity in a variety of human fibroblasts derived from normal individuals as well as individuals with the DNA repair deficiency diseases ataxia telangiectasia and xeroderma pigmentosum [4].
• Is peptic ulcer a prostaglandin deficiency disease [5]?

High impact information on Deficiency Diseases

• The deficiency of ADA in CID is the first enzyme defect observed in a deficiency disease of specific immunity [6].
• This immune deficiency disease represents a block in differentiation secondary to failure to express VH genes [7].
• Dominant-negative mutations of PDGF and other growth factors which, like PDGF, function as dimers may prove useful for creating animals models of growth factor deficiency disease states and for revealing the function of growth factors during early embryonic development [8].
• We generated purine nucleoside phosphorylase (PNP)-deficient mice to gain insight into the mechanism of immune deficiency disease associated with PNP deficiency in humans [9].
• The Wiskott-Aldrich syndrome (WAS) is a severe immunodeficiency and platelet deficiency disease arising from an X-linked defect [10].

Chemical compound and disease context of Deficiency Diseases

• Some of the clinical features of these MAO deletion patients may help to identify X-linked MAO deficiency diseases in humans [11].
• Schizophrenia as a prostaglandin deficiency disease [12].
• Ascorbic acid requirements are based on preventing the deficiency disease scurvy and on urinary excretion of vitamin C. We proposed the first quantitative approach to determining optimal requirements for ascorbic acid and other vitamins, called in situ kinetics [13].
• The low Se intake in this area is a cause for concern since the residents of Molimo may be at risk for Se deficiency diseases [14].
• Moreover, cholesterol synthetic capacity is impaired in cultured skin fibroblasts obtained from patients with peroxisomal deficiency diseases [15].

Biological context of Deficiency Diseases

• Subsequently Xpa and Xpc knockouts have proved to be good models for the human NER deficiency disease, xeroderma pigmentosum, leading to speculation that the recombination, rather than the NER deficit is the key to the Ercc1 knockout phenotype [16].
• Results showed that chicks were protected from the vitamin E-selenium deficiency disease exudative diathesis (ED) by a high dietary level of vitamin A (1.0 X 10(6) IU/kg) which moderately depressed growth [17].
• The immunodeficiency, centromeric region instability, facial anomalies (ICF) syndrome, a rare recessive DNA methyltransferase deficiency disease, results in a small decrease in the extent of global genomic methylation [18].
• However, ageist and sexist assumptions have distorted society's perceptions so that the menopause has come to be viewed as a "deficiency disease," best treated through the routine prescription of estrogen replacement therapy [19].

Anatomical context of Deficiency Diseases

• The Wiskott-Aldrich syndrome (WAS) is a severe immunodeficiency and platelet deficiency disease arising from mutation(s) in the WASP gene, which in normal cells encodes an intracellular protein able to interact with other proteins relevant to the control of cytoskeleton organization [20].
• The purpose of this review is to emphasize some of the recent findings related to the localization of cholesterol biosynthetic enzymes in peroxisomes and to discuss the impairment of cholesterol biosynthesis in peroxisomal deficiency diseases [21].
• Chromosomal heteromorphisms defined by the quinacrine banding technique were used to identify the maternal origin of 46,XX lymphocytes present in the blood of a male infant with severe combined immune deficiency disease [22].
• We studied spontaneous natural killer (NK) cell activity and radiation-resistant NK mediated cytotoxicity in four patients with clinically documented severe combined immune deficiency disease (SCID), and in one subject each with intestinal lymphangiectasia and cartilage-hair hypoplasia [23].

Gene context of Deficiency Diseases

• Deficiency of protein C inhibitor in combined factor V/VIII deficiency disease [24].
• The results provide insights into the functions of the subunits of DDB and suggest a possible link between the role of DDB in E2F1-activated transcription and the repair deficiency disease XP-E [25].
• Therefore, adiponectin may be useful in the treatment for obesity-related vascular deficiency diseases [26].
• Primary defect in CD8+ lymphocytes in the antibody deficiency disease (common variable immunodeficiency): abnormalities in intracellular production of interferon-gamma (IFN-gamma) in CD28+ ('cytotoxic') and CD28- ('suppressor') CD8+ subsets [27].
• The 1.9 A structure of alpha-N-acetylgalactosaminidase: molecular basis of glycosidase deficiency diseases [28].

Analytical, diagnostic and therapeutic context of Deficiency Diseases

• We, therefore, believed that isoflavones may help in the treatment of patients with estrogen deficiency disease such as estrogen replacement therapy (ERT) for osteoporosis [29].
• 2. alpha 1-Antitrypsin from species other than man has been characterized for two major reasons: (1) for use in a model animal system to assist with the study of the human alpha 1 AT deficiency disease; and (2) to find polymorphism for use in gene mapping and linkage studies or for parentage analysis [30].

References