16 June 2012

Liddle’s Syndrome



USMLE Step 1 Review
Renal Physiology and Tubular function
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USMLE Step 1 Review 2009.ppt
USMLE Step 1 Review 2010.ppt

Protein Targeting and Function: Ubiquitin Modifications
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Protein Targeting and Function: Ubiquitin Modifications.ppt

Monogenetic Causes of Hypertension: What Do They Tell Us ?
John M. Hamlyn Ph.D., FAHA
Monogenetic Causes of Hypertension.ppt

Electrolyte management in the PICU
Electrolytes_Resident_Lecture.ppt

Acid-Base Disorders
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Liddle's syndrome
Liddle's syndrome.ppt

Genetics of Hypertension
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Genetics of Hypertension.ppt

Case Study
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Children with Electrolyte Problems
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Neurocutaneous Syndromes
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Electrolyte Abnormalities in the Hospitalized Patient
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Identification of Genetic Hyperlipidemias
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27 free full text articles on Liddle’s Syndrome



  1. Genetic diagnosis of Liddle's syndrome by mutation analysis of SCNN1B and SCNN1G in a Chinese family.
  2. Aldosterone responsiveness of the epithelial sodium channel (ENaC) in colon is increased in a mouse model for Liddle's syndrome.
  3. Liddle's syndrome mutations increase Na+ transport through dual effects on epithelial Na+ channel surface expression and proteolytic cleavage.
  4. Vasopressin-stimulated CFTR Cl- currents are increased in the renal collecting duct cells of a mouse model of Liddle's syndrome.
  5. Liddle's syndrome caused by a novel mutation in the proline-rich PY motif of the epithelial sodium channel beta-subunit.
  6. [Liddle's syndrome: late diagnosis of a rare cause of arterial hypertension].
  7. Epithelial Na+ channel mutants causing Liddle's syndrome retain ability to respond to aldosterone and vasopressin.
  8. Mineralocorticoid regulation of epithelial Na+ channels is maintained in a mouse model of Liddle's syndrome.
  9. Liddle's syndrome: a novel mouse Nedd4 isoform regulates the activity of the epithelial Na(+) channel.
  10. Liddle's syndrome: a report in a middle-aged woman.
  11. Liddle's syndrome mutations disrupt cAMP-mediated translocation of the epithelial Na(+) channel to the cell surface.
  12. A mouse model for Liddle's syndrome.
  13. Effect of subunit composition and Liddle's syndrome mutations on biosynthesis of ENaC.
  14. Cystic fibrosis transmembrane conductance regulator inhibits epithelial Na+ channels carrying Liddle's syndrome mutations.
  15. Defective regulation of the epithelial Na+ channel by Nedd4 in Liddle's syndrome.
  16. Inhibition of the epithelial Na+ channel by interaction of Nedd4 with a PY motif deleted in Liddle's syndrome.
  17. Abnormalities of nasal potential difference measurement in Liddle's syndrome.
  18. Liddle's syndrome in an elderly woman.
  19. A family with Liddle's syndrome caused by a new missense mutation in the beta subunit of the epithelial sodium channel.
  20. Mutations and variants of the epithelial sodium channel gene in Liddle's syndrome and primary hypertension.
  21. Liddle's syndrome: prospective genetic screening and suppressed aldosterone secretion in an extended kindred.
  22. WW domains of Nedd4 bind to the proline-rich PY motifs in the epithelial Na+ channel deleted in Liddle's syndrome.
  23. Brief report: Liddle's syndrome revisited--a disorder of sodium reabsorption in the distal tubule.
  24. Plasma aldosterone level in a female case of pseudohyperaldosteronism (Liddle's syndrome).
  25. Hypertension, hypokalemia and hypoaldosteronism with suppressed renin: a clinical study of a patient with Liddle's syndrome.
  26. Two cases of pseudoaldosteronism (Liddle's syndrome) in siblings.
  27. Abnormal membrane sodium transport in Liddle's syndrome.

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