About: Molecular pathology and genetic diagnostics of renal hypouricemia     Goto   Sponge   NotDistinct   Permalink

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Description
  • 1. To understand the genetic background of renal hypouricemia in a cohort of patients, including a functional and immunohistochemical characterization of causal mutations in urate transporters. To clarify the relationship between RHUC and unusual clinical symptoms in a cohort of patients (renal cysts, psychomotoric retardation). 2. To identify the biological role of urate transporters with respect to GLUT9a and GLUT9b isoforms. 3. To clarify the genetic background of clinical subtypes in RHUC2. 4. To clarify the pathogenesis of renal hypouricemia with respect to acute kidney injury. 5. To clarify the relationship between urate transporters in pathological conditions. 6. To publish the results in impact and reviewed journals. (en)
  • 1. Odhalit genetický základ renální hypourikémie v souboru pacientů. 2. Identifikovat biologickou podstatu urátových transportérů včetně isoforem a odhalit podstatu subtypů renální hypourikémie. 3. Objasnit pathogenezi renální hypourikémie. 4. Charakterizovat vzájemné ovlivnění urátových transportérů.
Title
  • Molecular pathology and genetic diagnostics of renal hypouricemia (en)
  • Molekulární patologie a genetická diagnostika renální hypourikémie
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  • serum uric acid; urate transporter; renal hypouricemia; hyperuricemia; acute kidney injury (en)
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  • hyperuricemia
  • renal hypouricemia
  • urate transporter
  • serum uric acid
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