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Molybdenum cofactor deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
Two genes coding for the synthesis of MoCo were first cloned from Arabidopsis thaliana [14]. Search for homologous sequences led to the identification of MOCS1 [15]. The gene is bicistronic and codes for the first two proteins in the formation of precursor Z, MOCS 1A and 1B. Mutations were found in both cistrons [15, 16]. The gene is located on chromosome 6.
Immunology of Insulin-Dependent Diabetes Mellitus
Published in Irun R. Cohen, Perspectives on Autoimmunity, 2020
Christian Boitard, H. O. McDevitt
Associations with genes encoded on chromosomes other than chromosome 6 have been reported. An association with blood group Kidd is still controversial.67,68 An association with a polymorphic restriction site flanking the human insulin gene has also been reported.69 By contrast, no association with immunoglobulin heavy chain allotypes has been detected,70 although such association has been observed in other autoimmune diseases. An association with κ light chain allotype has recently been reported in IDDM associated with Graves’ disease.70
Immune Testing in Recurrent Pregnancy Loss*
Published in Howard J.A. Carp, Recurrent Pregnancy Loss, 2020
Jeffrey Braverman, Darren Ritsick, Nadera Mansouri-Attia
Genetic predispositions have been identified for almost all known autoimmune conditions which largely cluster within the MHC/HLA region of chromosome 6. These HLA alleles and haplotypes only predispose to the development of autoimmune conditions, which in most cases require additional environmental triggers and/or or additional genetic elements for the development of autoimmunity. However, while the presence of these predisposing alleles/haplotypes by themselves are not diagnostic of the presence of autoimmunity, they are frequently enlightening in view of the immune data to assist in the characterization of an underlying immune condition.
Desmoplastic small round cell tumor: from state of the art to future clinical prospects
Published in Expert Review of Anticancer Therapy, 2023
Shushan Hovsepyan, Claudia Giani, Sandro Pasquali, Angela Di Giannatale, Stefano Chiaravalli, Chiara Colombo, Daniel Orbach, Luca Bergamaschi, Sabina Vennarini, Susanne Andrea Gatz, Patrizia Gasparini, Pablo Berlanga, Michela Casanova, Andrea Ferrari
Reports on single cases or small samples of DSRCT patients only occasionally describe genomic sequencing performed to identify crucial genetic alterations other than EWSR1:WT1. These studies found that DSRCT has a low mutation burden with a few recurrently mutated cancer genes [36,37,41,42]. This confirms the role of EWSR1:WT1 fusion as the main driver of tumor initiation, and is consistent with the idea that fusion-positive sarcomas are driven mainly by the fusion oncoprotein, with few other genomic alterations. The low mutation burden found in DSRCT may be one of the reasons for the low overall immune infiltrate levels primarily associated with this tumor. In fact, PD-L1 expression reportedly varies considerably in DSRCT, and PD-1 is expressed on tumor cells instead of on tumor-infiltrating lymphocytes [43,44]. Interestingly, this tumor is associated with the loss of the whole of chromosome 6, where immunoregulatory genes are located [37].
Neuroinflammation and oxidative stress in schizophrenia: are these opportunities for repurposing?
Published in Postgraduate Medicine, 2022
Zarrin Ansari, Sudhir Pawar, Rajmohan Seetharaman
The major histocompatibility (MHC) locus located on chromosome 6 has the highest association with SCZ. Incidentally, this region encodes genes that are involved with innate immunity. The complement component 4A (C4A), highly associated with SCZ, is also associated with the innate immunity system that recognizes foreign pathogens and apoptotic cells and leads them to their destruction by macrophages. This complement component also plays an important role in the various stages of brain development, including neurogenesis, cellular migration, and microglia-mediated pruning of the synapses. The above findings may suggest that the complement component may be directly implicated for its impact on SCZ pathology. Also, various genomic studies have implicated alteration of cytokines in SCZ, reflected by alteration in the regulatory functions of interferons and interleukins. All these together simply imply that SCZ and neuroinflammation have a complex genetic association and this needs to be further validated [53].
Association of VEGFA promoter polymorphisms rs699947 and rs35569394 with diabetic retinopathy among North-Central Indian subjects: a case-control study
Published in Ophthalmic Genetics, 2022
Amrathlal Rabbind Singh, Rahul Gupta, Manish Shukla, Anupreeti Jain, Dhananjay Shukla
Microvascular changes observed in the retina of individuals with diabetes lead to hypoxia, which in turn stimulates expression of several patho-angiogenic growth factors such as vascular endothelial growth factor (VEGF) (11). VEGF is a multifunctional cytokine that promotes angiogenesis, vasculogenesis, endothelial cell growth, and also a potent mediator of microvascular permeability in ischemic retina (8). Human VEGF gene located on chromosome 6 is highly polymorphic and organized into eight exons separated by seven introns. VEGF gene reportedly has multiple isoforms with VEGF-A isoform being extensively studied in relation to angiogenesis. VEGF-A production can be modulated through variable activation of the VEGF-A promoter induced by hypoxia, changes in pH, and a variety of other mediators and cytokines. In the eye, VEGF is produced from many cell types and abundant expression of VEGF receptors by retinal endothelial cells is well known (11).