СИНДРОМЫ.
НАСЛЕДСТВЕННЫЕ БОЛЕЗНИ

KINASOPATHIES
  • KINASE MUTATIONS IN HUMAN DISEASE
      ◊ genotype–phenotype relationships
  • KIDNEY ANOMALIES
  • EXTRA-RENAL MANIFESTATIONS
      ◊ Ocular manifestations of congenital anomalies of the kidney and urinary tract (CAKUT)
  • CAKUT (CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT)
      ◊ Translational strategies to uncover the etiology of congenital anomalies of the kidney and urinary tract
    KIDNEY FIBROSIS
  • INHIBITING FIBROBLAST TO MYOFIBROBLAST TRANSFORMATION
      ◊Silencing SMOC2 ameliorates kidney fibrosis
    POLYCYSTIC KIDNEY DISEASE
  • MOLECULAR PATHOGENESIS
      ◊ Mutations in the PKD1 and PKD2