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8,810 Possible Causes for Mutations

  • Otitis Media

    The causal mutation was identified as a missense change, L972P, in the Nischarin (NISCH) gene. edison mice develop a serous or granulocytic effusion, increasingly macrophage[ncbi.nlm.nih.gov] We identified a significant genetic interaction between Nisch and Itga5; mice heterozygous for Itga5-null and homozygous for edison mutations display a significantly increased[ncbi.nlm.nih.gov]

  • Skin Infection

    In contrast, only 13% of the control group reported FLG mutations (22 heterozygous variants).[ncbi.nlm.nih.gov] RESULTS: Compared with those without the FLG-null mutations, patients with AD who had FLG mutation(s) had approximately a seven times increased risk of more than four episodes[ncbi.nlm.nih.gov] The construction of infectious VZV recombinants that have deletions or targeted mutations of viral genes or their promoters and the evaluation of VZV mutants in T cell and[ncbi.nlm.nih.gov]

  • Acute Gastroenteritis

    A whole genome sequencing revealed that all of the viral genome segments were highly similar to those of the Rotarix virus, with the exception of five amino acid mutations[ncbi.nlm.nih.gov] The clinical characteristics of patients were studied, and the rplD, rplV, and 23S rRNA domain V genes were sequenced to detected resistance-related mutations.[ncbi.nlm.nih.gov] Further identification of unique amino acid mutations in both VP1 and RdRp of NoV strain as shown in this report may provide insight in explaining its structural and antigenic[ncbi.nlm.nih.gov]

  • Osteoporosis

    BACKGROUND AND OBJECTIVES: Plastin 3 (PLS3) mutations are associated with an X-linked osteoporosis.[ncbi.nlm.nih.gov] Patients carrying homozygous WNT1 mutations have more frequent fractures while heterozygous carriers of the mutation in WNT1 gene are also found to have early onset osteoporosis[ncbi.nlm.nih.gov] Mutations in PLS3 have been identified as a cause of bone fragility in children, but the bone phenotype associated with PLS3 mutations has not been reported in detail.[ncbi.nlm.nih.gov]

  • Influenza

    We show that mutations that are measured to be more favorable for viral growth are enriched in evolutionarily successful H3N2 viral lineages relative to mutations that are[ncbi.nlm.nih.gov] KEYWORDS: amino acid mutation; avian influenza virus; interspecies transmission; machine learning[ncbi.nlm.nih.gov] Mutations were detected at higher frequency and faster rate at the antigenic sites surrounding the receptor-binding domain (RBD), in particular, in the Sa and Sb sites.[ncbi.nlm.nih.gov]

  • Pharyngitis

    As two mutations with a possible functional effect on the inflammasomes (MEFV E148Q and NLRP3 Q703K) have been found in several PFAPA cohorts, the role of inflammasome-related[ncbi.nlm.nih.gov]

  • Adrenal Insufficiency

    The X-linked form is related to mutations in the DAX1 (NROB1) gene.[ncbi.nlm.nih.gov] All mutations resulted in reduced or absent SGPL1 protein and/or enzyme activity.[ncbi.nlm.nih.gov] The mutation was confirmed in the CYP11A1 gene.[ncbi.nlm.nih.gov]

  • Upper Respiratory Infection

    .: Emergence of macrolide-resistant Mycoplasma pneumoniae with a 23S rRNA gene mutation . Antimicrob Agents Chemother 2005, 49: 2302–2306.[link.springer.com]

  • Viral Lower Respiratory Infection

    To study the effect of IFIH1 on RSV and HRV replication, we used Huh7.5 cells, which lack endogenous expression of IFIH1 and express a mutated, inactive form of RIG-I, and[pnas.org] GPR56 homozygous nonsense mutation p.R271* associated with phenotypic variability in bilateral frontoparietal polymicrogyria.[turkishjournalpediatrics.org] Antibiotic resistance is when bacteria is regularly exposed to the same drug over time and will eventually mutate and develop resistance to this drug.[europeanlung.org]

  • Streptococcal Infection

    For CsrR, only one noninvasive isolate was identified to have a V29I mutation.[ncbi.nlm.nih.gov] The major mechanism of resistance involves the introduction of mutations in genes encoding penicillin-binding proteins.[phagetherapycenter.com] Isolates with an N498K single mutation were more likely to be associated with invasive infections (p 0.001).[ncbi.nlm.nih.gov]

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