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15 Possible Causes for NALP5, human, protein

Did you mean: NALP5, human, proteus

  • Autoimmune Polyendocrinopathy

    Murine studies have linked AIRE to thymocyte selection and peripheral deletional tolerance, but the pathogenesis of the human disease remains unclear.[ncbi.nlm.nih.gov] […] heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome Mazza, C; Buzi, F; Ortolani, F Prevalence and significance of NALP5[deepdyve.com] Our results point to a function of the AIRE1-PHD1 domain in protein-protein interactions, which is impaired in some APECED mutations. [Indexed for MEDLINE] Free full text[ncbi.nlm.nih.gov]

  • Autoimmune Polyendocrinopathy Type 1

    Conventional treatment for MG was effective and safe in this case, in which there was positivity for human leukocyte antigen A23, B52, B62, DR11, and DR15.[journals.lww.com] […] syndrome type 2 (APS-2). ( 19382992 ) 2009 44 [Apeced syndrome or autoimmune polyendocrine syndrome Type 1]. ( 18296018 ) 2008 45 Autoimmune polyendocrine syndrome type 1 and NALP5[malacards.org] Other unknowns are which proteins the body attacks, and what about those proteins labels them as intruders.[asweetlife.org]

  • Hypocalcemia

    CONCLUSIONS: Based on the analysis of these cases, the conclusion was drawn that the use of recombinant human teriparatide allows for the control of severe hypocalcaemia requiring[ncbi.nlm.nih.gov] More recently one group studying individuals with hypoparathyroidism and APS-1 showed that 50% of these patients demonstrated antibodies to NALP5 (nacht leucine repeat protein[web.archive.org] […] and G-protein activation.[ncbi.nlm.nih.gov]

  • Polyendocrine - Polyneuropathy Syndrome

    Immunogen Recombinant protein corresponding to amino acids of human DMXL2.[antibodies-online.com] Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. N Engl J Med . 2008 Mar 6. 358(10):1018-28. [Medline] . [Full Text] .[emedicine.medscape.com] Your Input: Neighborhood Gene Fusion Cooccurence Coexpression Experiments Databases Textmining [Homology] Score DMXL2DmX-like protein 2; May serve as a scaffold protein for[string-db.org]

  • Autoimmune Polyglandular Syndrome Type I

    AADC only (D-group) neurons and fibers in the rat brain, in several cases with a remarkably high quality and sensitivity (dilution up to 1:1,000,000); and, since they are human[ncbi.nlm.nih.gov] Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid auto antigen. N Engl J Medicine. 2008;358(10):1018-28. LeBoeuf N. Garg A. Worobec S.[rarediseases.org] […] enolase, heat shock protein 90, pyruvate kinase, and alcohol dehydrogenase.[ncbi.nlm.nih.gov]

  • Autoimmune Hypoparathyroidism

    […] adenoma each; and three did not react with human adenomas.[ncbi.nlm.nih.gov] Eisenbarth G (2008) Do NALP5 antibodies correlate with hypoparathyroidism in patients with APS-1?[link.springer.com] […] autoantigens were unknown until the extracellular domain of the calcium-sensing receptor was identified as a potential target. 2 The calcium-sensing receptor is a cell-surface, G protein–coupled[nejm.org]

  • Addison's Disease

    Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, 49 Przybyszewskiego, 60-355, Poznan, Poland. [email protected] 2 Institute of Human[ncbi.nlm.nih.gov] OBJECTIVES: The objectives of the study were to determine the frequency of NALP5/MATER autoantibodies (NALP5/MATER-Ab) in women with premature ovarian insufficiency (POI)[ncbi.nlm.nih.gov] A protein with an apparent molecular weight of 54 kDa was recognised as the common and major component.[ncbi.nlm.nih.gov]

  • Bangstad Syndrome

    Overall, autoantibodies to the 49 kDa cytosolic autoantigen, human pituitary enolase were detected in 39 of the 67 patients (58%).[mattioli1885journals.com] Alimohammadi M et. al. (2008) Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. [ ] 57.[moldiag.com] Most mutations change amino acids in the protein that binds to DNA or coding result of an abnormally short, nonfunctional protein.[ivami.com]

  • Familial Candidiasis 2

    Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles.[rarediseases.info.nih.gov] Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid auto antigen. N Engl J Medicine. 2008;358(10):1018-28. LeBoeuf N. Garg A. Worobec S.[rarediseases.org] Aliases for CARD9 Gene Caspase Recruitment Domain Family Member 9 2 3 5 HCARD9 3 4 Caspase Recruitment Domain-Containing Protein 9 3 Caspase Recruitment Domain Family, Member[genecards.org]

  • Vitiligo-Associated Multiple Autoimmune Disease

    It states that the major goal in human genetics is to link the state of single-nucleotide polymorphisms (SNPs), which is a single point in a DNA sequence that...[connection.ebscohost.com] […] sensitivity near 100%, antibronchiolar antibodies directed against KCNRG antigen, antipituitary antibodies against TDRD6 or ECE2 and antiparathyroid antibodies against anti NALP5[hormones.gr] RESULTS: Association analyses resulted in our identifying as a candidate gene NALP1, which encodes NACHT leucine-rich-repeat protein 1, a regulator of the innate immune system[ncbi.nlm.nih.gov]