Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 6 of 6 for “"Scn9a"”.
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Characterization of the mechanisms behind the alternative splicing of the mutually exclusive exons 18N and 18A in the sodium channel gene SCN8A and mutually exclusive exons 5N and 5A in the soldium channel gene SCN9A
… examples are those of the SCN8A (Nav 1.6) and SCN9A (Nav 1.7) genes. SCN8A gene contains two mutually exclusive exons, 18N and 18A. Transcripts with exon 18N have a conserved inframe stop codon that predicts the synthesis of a truncated, non functional sodium channel. This protein is expressed …
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Investigation into the molecular mechanisms of congenital insensitivity to pain
… and splicing mutations in NTRK1, NGF and SCN9A were identified in the cohort. The findings presented in this dissertation demonstrate how mutations in the NTRK1 gene can cause the phenotype of CIP, and increase our knowledge of the functions and the role of key residues of TRKA within the …
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Exploring Pain Neurobiology: Molecular Investigation of Genetic Sensory Disorders
… of several novel missense mutations from SCN9A-CIP patients, representing localised structural changes to the voltage-gated sodium channel (VGSC) Nav1.7. Studies revealed that all mutants were non-conducting, independent of protein folding or membrane trafficking defects, implying critical …
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The aetiology of pain in chronic midportion Achilles tendinopathy
… TAC1rs2072100 (C/T), TACR1 rs3771829 (C/G) and SCN9A rs6746030 (G/A) were selected based on the biological function of their encoded proteins within the pain pathways. The objectives of the specific chapters which addressed these aims were: • Describe Achilles tendon pain using multidimensional …
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Interplay between collapsin response mediator protein 2 (CRMP2) phosphorylation and sumoylation modulates NaV1.7 trafficking
… recognition that loss-of-function mutations in SCN9A, the gene encoding Nav1.7, are associated with congenital insensitivity to pain, whereas gain-of-function mutations produce distinct pain syndromes due to increased Nav1.7 activity. Selective inhibition of Nav1.7 is fundamental to modulating …
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TIMP-1 as a Modulator of Inflammatory Pain
The prevalence and financial impact of chronic pain is substantial, and the presence of unresolved inflammation predicts its development. However, the mechanisms underlying unresolved inflammation are not well understood. Therefore, investigation of pathways involved in resolution of inflammatory …