Beyond the tubule: pathological variants of LRP2, encoding the megalin receptor, result in glomerular loss and early progressive chronic kidney disease

Pathogenic variants in the LRP2 gene, encoding the multiligand receptor megalin, cause a rare autosomal recessive syndrome: Donnai-Barrow/Facio-Oculo-Acoustico-Renal (DB/FOAR) syndrome. Because of the rarity of the syndrome, the long-term consequences of the tubulopathy on human renal health have be...

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Bibliografiska uppgifter
I publikationen:Am J Physiol Renal Physiol
Huvudupphovsmän: Charlton, Jennifer R., Tan, Weizhen, Daouk, Ghaleb, Teot, Lisa, Rosen, Seymour, Bennett, Kevin M., Cwiek, Aleksandra, Nam, Sejin, Emma, Francesco, Jouret, François, Oliveira, João Paulo, Tranebjærg, Lisbeth, Frykholm, Carina, Mane, Shrikant, Hildebrandt, Friedhelm, Srivastava, Tarak, Storm, Tina, Christensen, Erik Ilsø, Nielsen, Rikke
Materialtyp: Artigo
Språk:Inglês
Publicerad: American Physiologicalfabst Society 2020
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7792689/
https://ncbi.nlm.nih.gov/pubmed/33103447
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1152/ajprenal.00295.2020
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