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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Publicat a:Am J Physiol Renal Physiol
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: American Physiologicalfabst Society 2020
Matèries:
Research Article
Accés en línia: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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