mTOR-Activating Mutations in <i>RRAGD</i> Are Causative for Kidney Tubulopathy and Cardiomyopathy.

Schlingmann K. P., Jouret F., Shen K., Nigam A., Arjona F. J., Dafinger C., ...Daha Fazla

Journal of the American Society of Nephrology : JASN, cilt.32, sa.11, ss.2885-2899, 2021 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 32 Sayı: 11
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1681/asn.2021030333
  • Dergi Adı: Journal of the American Society of Nephrology : JASN
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, PASCAL, BIOSIS, CAB Abstracts, CINAHL, EMBASE, MEDLINE, Veterinary Science Database
  • Sayfa Sayıları: ss.2885-2899
  • Anahtar Kelimeler: hypomagnesemia, Bartter syndrome, genetic renal disease, magnesium, kidney stones, TRPM6, nephrocalcinosis, hypokalemia, mTOR, rag complex, salt wasting, CHLORIDE CHANNEL GENE, HYPOMAGNESEMIA, TRPM6, METABOLISM, TRANSPORT, GITELMAN, DISEASE, CLCNKB
  • Marmara Üniversitesi Adresli: Evet

Özet

Background Over the last decade, advances in genetic techniques have resulted in the identification of rare hereditary disorders of renal magnesium and salt handling. Nevertheless, approximately 20% of all patients with tubulopathy lack a genetic diagnosis.