FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2117029407> ?p ?o ?g. }

• W2117029407 endingPage "586" @default.
• W2117029407 startingPage "574" @default.
• W2117029407 abstract "Mutations in PCBD1 are causative for transient neonatal hyperphenylalaninemia and primapterinuria (HPABH4D). Until now, HPABH4D has been regarded as a transient and benign neonatal syndrome without complications in adulthood. In our study of three adult patients with homozygous mutations in the PCBD1 gene, two patients were diagnosed with hypomagnesemia and renal Mg(2+) loss, and two patients developed diabetes with characteristics of maturity onset diabetes of the young (MODY), regardless of serum Mg(2+) levels. Our results suggest that these clinical findings are related to the function of PCBD1 as a dimerization cofactor for the transcription factor HNF1B. Mutations in the HNF1B gene have been shown to cause renal malformations, hypomagnesemia, and MODY. Gene expression studies combined with immunohistochemical analysis in the kidney showed that Pcbd1 is expressed in the distal convoluted tubule (DCT), where Pcbd1 transcript levels are upregulated by a low Mg(2+)-containing diet. Overexpression in a human kidney cell line showed that wild-type PCBD1 binds HNF1B to costimulate the FXYD2 promoter, the activity of which is instrumental in Mg(2+) reabsorption in the DCT. Of seven PCBD1 mutations previously reported in HPABH4D patients, five mutations caused proteolytic instability, leading to reduced FXYD2 promoter activity. Furthermore, cytosolic localization of PCBD1 increased when coexpressed with HNF1B mutants. Overall, our findings establish PCBD1 as a coactivator of the HNF1B-mediated transcription necessary for fine tuning FXYD2 transcription in the DCT and suggest that patients with HPABH4D should be monitored for previously unrecognized late complications, such as hypomagnesemia and MODY diabetes." @default.
• W2117029407 created "2016-06-24" @default.
• W2117029407 creator A5007406975 @default.
• W2117029407 creator A5031181174 @default.
• W2117029407 creator A5035836898 @default.
• W2117029407 creator A5042851351 @default.
• W2117029407 creator A5043204023 @default.
• W2117029407 creator A5058706164 @default.
• W2117029407 creator A5063212999 @default.
• W2117029407 creator A5071347337 @default.
• W2117029407 creator A5082434202 @default.
• W2117029407 creator A5083942654 @default.
• W2117029407 creator A5084777052 @default.
• W2117029407 date "2014-03-01" @default.
• W2117029407 modified "2023-10-16" @default.
• W2117029407 title "Mutations in PCBD1 Cause Hypomagnesemia and Renal Magnesium Wasting" @default.
• W2117029407 cites W1555216309 @default.
• W2117029407 cites W1583887760 @default.
• W2117029407 cites W1921961511 @default.
• W2117029407 cites W1973041819 @default.
• W2117029407 cites W1974856058 @default.
• W2117029407 cites W1982103636 @default.
• W2117029407 cites W1983951768 @default.
• W2117029407 cites W1986388430 @default.
• W2117029407 cites W1988596921 @default.
• W2117029407 cites W2019243318 @default.
• W2117029407 cites W2024427135 @default.
• W2117029407 cites W2027957895 @default.
• W2117029407 cites W2036098270 @default.
• W2117029407 cites W2041046475 @default.
• W2117029407 cites W2061813490 @default.
• W2117029407 cites W2075120758 @default.
• W2117029407 cites W2080680262 @default.
• W2117029407 cites W2087288778 @default.
• W2117029407 cites W2095746428 @default.
• W2117029407 cites W2096021112 @default.
• W2117029407 cites W2099099776 @default.
• W2117029407 cites W2099540110 @default.
• W2117029407 cites W2100194579 @default.
• W2117029407 cites W2104529068 @default.
• W2117029407 cites W2109852750 @default.
• W2117029407 cites W2116263078 @default.
• W2117029407 cites W21189868 @default.
• W2117029407 cites W2119240136 @default.
• W2117029407 cites W2123348457 @default.
• W2117029407 cites W2131428840 @default.
• W2117029407 cites W2132717858 @default.
• W2117029407 cites W2135910910 @default.
• W2117029407 cites W2141829985 @default.
• W2117029407 cites W2143195677 @default.
• W2117029407 cites W2146407922 @default.
• W2117029407 cites W2149199764 @default.
• W2117029407 cites W2150245940 @default.
• W2117029407 cites W2164130717 @default.
• W2117029407 cites W2168831278 @default.
• W2117029407 cites W2473597595 @default.
• W2117029407 cites W4248170165 @default.
• W2117029407 cites W4379474904 @default.
• W2117029407 doi "https://doi.org/10.1681/asn.2013040337" @default.
• W2117029407 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3935582" @default.
• W2117029407 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/24204001" @default.
• W2117029407 hasPublicationYear "2014" @default.
• W2117029407 type Work @default.
• W2117029407 sameAs 2117029407 @default.
• W2117029407 citedByCount "65" @default.
• W2117029407 countsByYear W21170294072013 @default.
• W2117029407 countsByYear W21170294072014 @default.
• W2117029407 countsByYear W21170294072015 @default.
• W2117029407 countsByYear W21170294072016 @default.
• W2117029407 countsByYear W21170294072017 @default.
• W2117029407 countsByYear W21170294072018 @default.
• W2117029407 countsByYear W21170294072019 @default.
• W2117029407 countsByYear W21170294072020 @default.
• W2117029407 countsByYear W21170294072021 @default.
• W2117029407 countsByYear W21170294072022 @default.
• W2117029407 countsByYear W21170294072023 @default.
• W2117029407 crossrefType "journal-article" @default.
• W2117029407 hasAuthorship W2117029407A5007406975 @default.
• W2117029407 hasAuthorship W2117029407A5031181174 @default.
• W2117029407 hasAuthorship W2117029407A5035836898 @default.
• W2117029407 hasAuthorship W2117029407A5042851351 @default.
• W2117029407 hasAuthorship W2117029407A5043204023 @default.
• W2117029407 hasAuthorship W2117029407A5058706164 @default.
• W2117029407 hasAuthorship W2117029407A5063212999 @default.
• W2117029407 hasAuthorship W2117029407A5071347337 @default.
• W2117029407 hasAuthorship W2117029407A5082434202 @default.
• W2117029407 hasAuthorship W2117029407A5083942654 @default.
• W2117029407 hasAuthorship W2117029407A5084777052 @default.
• W2117029407 hasBestOaLocation W21170294071 @default.
• W2117029407 hasConcept C104317684 @default.
• W2117029407 hasConcept C121587040 @default.
• W2117029407 hasConcept C126322002 @default.
• W2117029407 hasConcept C132647116 @default.
• W2117029407 hasConcept C134018914 @default.
• W2117029407 hasConcept C136013683 @default.
• W2117029407 hasConcept C178790620 @default.
• W2117029407 hasConcept C185592680 @default.
• W2117029407 hasConcept C2776183862 @default.

• next