PubMed:10023655 JSONTXT

{"project":"ngly1-sample9","denotations":[{"id":"T1","span":{"begin":114,"end":132},"obj":"hgnc:633"},{"id":"T2","span":{"begin":14,"end":25},"obj":"hgnc:633"},{"id":"T3","span":{"begin":547,"end":551},"obj":"hgnc:633"},{"id":"T4","span":{"begin":586,"end":590},"obj":"hgnc:633"}],"text":"Expression of aquaporin-1 in a long-term peritoneal dialysis patient with impaired transcellular water transport.\nAquaporin-1 (AQP1) has been claimed to be the molecular counterpart of the transcellular pathway for free-water movement across the peritoneum during peritoneal dialysis. We report the case of a 67-year-old man, on peritoneal dialysis for 11 years, in whom ultrafiltration failure due to an abolition of the transcellular water transfer (documented by a loss of sodium sieving) was associated with an apparently normal expression of AQP1. We suggest that an alteration of AQP1 structure, rather than of its expression, accounts for this observation."}

{"project":"NGLY1-deficiency","denotations":[{"id":"PD-NGLY1-deficiency-B_T1","span":{"begin":14,"end":23},"obj":"hgnc:636"},{"id":"PD-NGLY1-deficiency-B_T2","span":{"begin":114,"end":123},"obj":"hgnc:636"},{"id":"PD-NGLY1-deficiency-B_T3","span":{"begin":14,"end":25},"obj":"hgnc:19940"},{"id":"PD-NGLY1-deficiency-B_T4","span":{"begin":114,"end":125},"obj":"hgnc:19940"},{"id":"PD-NGLY1-deficiency-B_T5","span":{"begin":127,"end":131},"obj":"hgnc:633"},{"id":"PD-NGLY1-deficiency-B_T6","span":{"begin":547,"end":551},"obj":"hgnc:633"},{"id":"PD-NGLY1-deficiency-B_T7","span":{"begin":586,"end":590},"obj":"hgnc:633"}],"namespaces":[{"prefix":"hgnc","uri":"https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:"},{"prefix":"omim","uri":"https://www.omim.org/entry/"},{"prefix":"chem","uri":"https://pubchem.ncbi.nlm.nih.gov/compound/"}],"text":"Expression of aquaporin-1 in a long-term peritoneal dialysis patient with impaired transcellular water transport.\nAquaporin-1 (AQP1) has been claimed to be the molecular counterpart of the transcellular pathway for free-water movement across the peritoneum during peritoneal dialysis. We report the case of a 67-year-old man, on peritoneal dialysis for 11 years, in whom ultrafiltration failure due to an abolition of the transcellular water transfer (documented by a loss of sodium sieving) was associated with an apparently normal expression of AQP1. We suggest that an alteration of AQP1 structure, rather than of its expression, accounts for this observation."}