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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Detalhes bibliográficos
Publicado no:Am J Physiol Renal Physiol
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: American Physiologicalfabst Society 2020
Assuntos:
Research Article
Acesso em linha: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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