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 4 of 4 for “"Kallmann Syndrome"”.
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Specific Roles of Kal-1 in Olfaction: A Model of Kallmann Syndrome in Drosophila
The X chromosome-linked form of Kallmann syndrome (KS) is caused by disruption of the Kal-1 gene, which encodes a secreted protein called Anosmin-1. The definitive features of the KS phenotype are anosmia and hypogonadism. Despite high conservation of the Kal-1 gene from invertebrates to …
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Transcriptional Regulation of kal-1 in the Nematode Caenorhabditis elegans
<p>X-linked Kallmann syndrome (KS) is a genetic disease that is caused by loss-of-function mutations in the human <em>kal-1</em> gene. The disorder consists of a loss of sense-of-smell coupled with failure to undergo spontaneous puberty. At the cellular level, KS phenotypes are caused by olfactory …
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Novel hypothalamic G protein-coupled receptors involved in the control of reproduction
… hypogonadotropic hypogonadism (nCHH) and Kallmann syndrome (KS). DNA from a cohort of European nCHH/KS patients was exome sequenced. Mutations in GPCR genes were identified and two hypothalamic GPCRs of interest were identified; oxytocin receptor (OXTR) and Y4 neuropeptide Y receptor …
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Eph-Ephrin Signaling and the Role of EFN-4 in Caenorhabditis Elegans Nervous Systems Development
… in <em>C. elegans</em> model of X-linked Kallmann syndrome, a human genetic disorder that presents with loss of sense of smell and failure to undergo spontaneous puberty. In addition, <em>efn-4 </em>mutants have defects in AIY interneuron axon outgrowth. Tissue specific rescue experiments …