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- W3015515834 endingPage "1159" @default.
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- W3015515834 abstract "Abstract Guanylyl cyclase C (GC‐C) is the receptor for the heat‐stable enterotoxin, which causes diarrhea, and the endogenous ligands, guanylin and uroguanylin. GC‐C is predominantly expressed in the intestinal epithelium and regulates fluid and ion secretion in the gut. The receptor has a complex domain organization, and in the absence of structural information, mutational analysis provides clues to mechanisms of regulation of this protein. Here, we review the mutational landscape of this receptor that reveals regulatory features critical for its activity. We also summarize the available information on mutations in GC‐C that have been reported in humans and contribute to severe gastrointestinal abnormalities. Since GC‐C is also expressed in extra‐intestinal tissues, it is likely that mutations thus far reported in humans may also affect other organ systems, warranting a close observation of these patients in future." @default.
- W3015515834 created "2020-04-17" @default.
- W3015515834 creator A5018347321 @default.
- W3015515834 creator A5027255071 @default.
- W3015515834 creator A5072684894 @default.
- W3015515834 date "2020-04-15" @default.
- W3015515834 modified "2023-10-06" @default.
- W3015515834 title "Mutational landscape of receptor guanylyl cyclase C: Functional analysis and disease‐related mutations" @default.
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- W3015515834 doi "https://doi.org/10.1002/iub.2283" @default.
- W3015515834 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7611479" @default.
- W3015515834 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32293781" @default.
- W3015515834 hasPublicationYear "2020" @default.
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