FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2107255798> ?p ?o ?g. }

• W2107255798 endingPage "319" @default.
• W2107255798 startingPage "314" @default.
• W2107255798 abstract "Systemic pseudohypoaldosteronism type I (PHAI) is an autosomal recessive disorder that arises from loss of function mutations of the alpha, beta, or gamma subunit of Epithelial Na(+) Channel (ENaC). In addition to a severe renal phenotype in the neonatal period, patients with PHAI develop a childhood pulmonary syndrome characterized by cough and frequent respiratory infections. We tested a patient, born to consanguineous parents, who presented with dehydration, metabolic acidosis, hyperkalemia, elevated renin and aldosterone levels at birth, and recurrent respiratory symptoms in his first year. He demonstrated defective epithelial Na(+) transport in multiple organs (raised sweat Cl(-), 120 mM; raised salivary Na(+) and Cl(-), 118 and 111 mM, respectively; and little nasal amiloride-sensitive potential difference). No deleterious mutation was identified in the coding region of the three ENaC subunits. Reverse transcriptase-polymerase chain reaction of nasal epithelial RNA showed reduced betaENaC expression, and inability to amplify promoter elements indicated the possibility of a deletion in the 5' region. Using a probe that corresponded to exon 1A of betaENaC, we confirmed a large deletion (> 1,300 bp). In summary, a homozygous mutation in the promoter region of betaENaC leads to PHAI, the first description of a mutation in the regulatory regions of an ENaC subunit leading to a clinical phenotype." @default.
• W2107255798 created "2016-06-24" @default.
• W2107255798 creator A5019551589 @default.
• W2107255798 creator A5040471863 @default.
• W2107255798 creator A5046815923 @default.
• W2107255798 creator A5055982974 @default.
• W2107255798 creator A5079754705 @default.
• W2107255798 creator A5090852510 @default.
• W2107255798 date "2002-09-01" @default.
• W2107255798 modified "2023-09-24" @default.
• W2107255798 title "Systemic Pseudohypoaldosteronism from Deletion of the Promoter Region of the HumanβEpithelial Na+Channel Subunit" @default.
• W2107255798 cites W1567934730 @default.
• W2107255798 cites W1800703031 @default.
• W2107255798 cites W1979924191 @default.
• W2107255798 cites W1986543465 @default.
• W2107255798 cites W2018609953 @default.
• W2107255798 cites W2022857539 @default.
• W2107255798 cites W2026044834 @default.
• W2107255798 cites W2028859884 @default.
• W2107255798 cites W2029268686 @default.
• W2107255798 cites W2037814152 @default.
• W2107255798 cites W2044939438 @default.
• W2107255798 cites W2054349181 @default.
• W2107255798 cites W2059116113 @default.
• W2107255798 cites W2064530673 @default.
• W2107255798 cites W2071398217 @default.
• W2107255798 cites W2076934605 @default.
• W2107255798 cites W2084682286 @default.
• W2107255798 cites W2086609296 @default.
• W2107255798 cites W2095208217 @default.
• W2107255798 cites W2109554821 @default.
• W2107255798 cites W2120245762 @default.
• W2107255798 cites W2129271389 @default.
• W2107255798 cites W2134466489 @default.
• W2107255798 cites W2142766228 @default.
• W2107255798 cites W2143766390 @default.
• W2107255798 cites W2184309442 @default.
• W2107255798 cites W2186559780 @default.
• W2107255798 cites W2312795520 @default.
• W2107255798 cites W2336008514 @default.
• W2107255798 cites W2415792674 @default.
• W2107255798 cites W2419398379 @default.
• W2107255798 cites W4211037815 @default.
• W2107255798 cites W4233775006 @default.
• W2107255798 cites W4240682011 @default.
• W2107255798 cites W4241124622 @default.
• W2107255798 doi "https://doi.org/10.1165/rcmb.2002-0029oc" @default.
• W2107255798 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12204893" @default.
• W2107255798 hasPublicationYear "2002" @default.
• W2107255798 type Work @default.
• W2107255798 sameAs 2107255798 @default.
• W2107255798 citedByCount "28" @default.
• W2107255798 countsByYear W21072557982012 @default.
• W2107255798 countsByYear W21072557982015 @default.
• W2107255798 countsByYear W21072557982016 @default.
• W2107255798 countsByYear W21072557982017 @default.
• W2107255798 countsByYear W21072557982019 @default.
• W2107255798 countsByYear W21072557982020 @default.
• W2107255798 countsByYear W21072557982021 @default.
• W2107255798 countsByYear W21072557982022 @default.
• W2107255798 countsByYear W21072557982023 @default.
• W2107255798 crossrefType "journal-article" @default.
• W2107255798 hasAuthorship W2107255798A5019551589 @default.
• W2107255798 hasAuthorship W2107255798A5040471863 @default.
• W2107255798 hasAuthorship W2107255798A5046815923 @default.
• W2107255798 hasAuthorship W2107255798A5055982974 @default.
• W2107255798 hasAuthorship W2107255798A5079754705 @default.
• W2107255798 hasAuthorship W2107255798A5090852510 @default.
• W2107255798 hasConcept C104317684 @default.
• W2107255798 hasConcept C126322002 @default.
• W2107255798 hasConcept C127716648 @default.
• W2107255798 hasConcept C134018914 @default.
• W2107255798 hasConcept C153911025 @default.
• W2107255798 hasConcept C178790620 @default.
• W2107255798 hasConcept C185592680 @default.
• W2107255798 hasConcept C2776273561 @default.
• W2107255798 hasConcept C2778525890 @default.
• W2107255798 hasConcept C2779246250 @default.
• W2107255798 hasConcept C2780243291 @default.
• W2107255798 hasConcept C36823959 @default.
• W2107255798 hasConcept C501734568 @default.
• W2107255798 hasConcept C537181965 @default.
• W2107255798 hasConcept C54355233 @default.
• W2107255798 hasConcept C6507245 @default.
• W2107255798 hasConcept C71924100 @default.
• W2107255798 hasConcept C86803240 @default.
• W2107255798 hasConceptScore W2107255798C104317684 @default.
• W2107255798 hasConceptScore W2107255798C126322002 @default.
• W2107255798 hasConceptScore W2107255798C127716648 @default.
• W2107255798 hasConceptScore W2107255798C134018914 @default.
• W2107255798 hasConceptScore W2107255798C153911025 @default.
• W2107255798 hasConceptScore W2107255798C178790620 @default.
• W2107255798 hasConceptScore W2107255798C185592680 @default.
• W2107255798 hasConceptScore W2107255798C2776273561 @default.
• W2107255798 hasConceptScore W2107255798C2778525890 @default.
• W2107255798 hasConceptScore W2107255798C2779246250 @default.
• W2107255798 hasConceptScore W2107255798C2780243291 @default.
• W2107255798 hasConceptScore W2107255798C36823959 @default.

• next