129 results on '"Gautschi, Ivan"'
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2. A mild and transient form of autosomal recessive Pseudohypoaldosteronism type 1 (PHA1) caused by a novel mutation in the SCNN1A gene
3. A Single Point Mutation in the Pore Region of the Epithelial Na + Channel Changes Ion Selectivity by Modifying Molecular Sieving
4. AKAP-mediated regulation of secretory processes in cardiac fibrosis
5. Calcium regulates acid-sensing ion channel 3 activation by competing with protons in the channel pore and at an allosteric binding site
6. Cell Surface Expression of the Epithelial Na Channel and a Mutant Causing Liddle Syndrome: A Quantitative Approach
7. A mild and transient form of autosomal recessive pseudohypoaldosteronism type 1 caused by a novel mutation in the SCNN1A gene.
8. Kidney-Specific CAP1/Prss8-Deficient Mice Maintain ENaC-Mediated Sodium Balance through an Aldosterone Independent Pathway
9. Photoresponsive Nanocarriers Based on Lithium Niobate Nanoparticles for Harmonic Imaging and On-Demand Release of Anticancer Chemotherapeutics
10. A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle Syndrome
11. AKAP‐mediated regulation of extracellular matrix secretion in cardiac fibrosis
12. Supplementary Figures and Tables from Calcium regulates acid-sensing ion channel 3 activation by competing with protons in the channel pore and at an allosteric binding site
13. Gd3+-Functionalized Lithium Niobate Nanoparticles for Dual Multiphoton and Magnetic Resonance Bioimaging
14. A Mutation in the Epithelial Sodium Channel Causing Liddle Disease Increases Channel Activity in the Xenopus laevis Oocyte Expression System
15. A De novo Missense Mutation of the β Subunit of the Epithelial Sodium Channel Causes Hypertension and Liddle Syndrome, Identifying a Proline-Rich Segment Critical for Regulation of Channel Activity
16. Multiorder Nonlinear Mixing in Metal Oxide Nanoparticles
17. Gd3+-Functionalized Lithium Niobate Nanoparticles for Dual Multiphoton and Magnetic Resonance Bioimaging.
18. Structural and Functional Analysis of Gly212 Mutants Reveals the Importance of Intersubunit Interactions in ASIC1a Channel Function
19. A single point mutation in the pore region of the epithelial Na+ channel changes ion selectivity by modifying molecular sieving
20. Revealing a subclinical salt-losing phenotype in heterozygous carriers of the novel S562P mutation in the α subunit of the epithelial sodium channel
21. Identification of amino-acid residues in the alpha, beta and gamma subunits of the epithelial sodium channel (ENaC) involved in amiloride block and ion permeation
22. Loss-of-function mutations of the K + channel gene KCNJ2 constitute a rare cause of long QT syndrome
23. A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity
24. Dysfunction of the Epithelial Sodium Channel Expressed in the Kidney of a Mouse Model for Liddle Syndrome
25. MUTATIONS IN THE OUTER PORE OF THE EPITHELIAL Na CHANNEL DISRUPT AMILORIDE BLOCK BY INCREASING THE OFF-RATE
26. DYSFUNCTION OF THE EPITHELIAL SODIUM CHANNEL (ENaC) EXPRESSED IN THE KIDNEY OF LIDDLE MICE
27. Amiloride-sensitive epithelial Na+ channel is made of three homologous subunits
28. On the Molecular Basis of Ion Permeation in the Epithelial Na+ Channel
29. Mutations Causing Liddle Syndrome Reduce Sodium-dependent Downregulation of the Epithelial Sodium Channel in the Xenopus Oocyte Expression System
30. Identification of Amino Acid Residues in the α, β, and γ Subunits of the Epithelial Sodium Channel (ENaC) Involved in Amiloride Block and Ion Permeation
31. Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension
32. Human Mutations in SLC2A9 (Glut9) Affect Transport Capacity for Urate
33. Proton and non-proton activation of ASIC channels
34. Deletion of Xenotropic and Polytropic Retrovirus Receptor 1 in mouse nephron causes renal Fanconi syndrome and hypophosphatemic rickets
35. Renal Fanconi Syndrome and Hypophosphatemic Rickets in the Absence of Xenotropic and Polytropic Retroviral Receptor in the Nephron
36. The Human Acid-Sensing Ion Channel ASIC1a: Evidence for a Homotetrameric Assembly State at the Cell Surface
37. Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A
38. Functional Analysis of a Missense Mutation in the Serine Protease Inhibitor SPINT2 Associated with Congenital Sodium Diarrhea
39. Revisiting the Heteromultimeric Structure of ENaC in XENOPUS Leavis Oocytes
40. Subunit Oligomerization of Human ASIC1a in Xenopus Laevis Oocytes
41. Licorice-induced hypertension and common variants of genes regulating renal sodium reabsorption
42. Cadmium Trapping in an Epithelial Sodium Channel Pore Mutant
43. A Gating Mutation in the Internal Pore of ASIC1a
44. Intracellular Thiol-mediated Modulation of Epithelial Sodium Channel Activity
45. Common variants of the beta and gamma subunits of the epithelial sodium channel and their relation to plasma renin and aldosterone levels in essential hypertension
46. Mutations in the Epithelial Na+ Channel ENaC Outer Pore Disrupt Amiloride Block by Increasing Its Dissociation Rate
47. Affinity and Specificity of Interactions between Nedd4 Isoforms and the Epithelial Na+ Channel
48. Liddle's syndrome associated with a point mutation in the extracellular domain of the epithelial sodium channel γ subunit
49. An External Site Controls Closing of the Epithelial Na+Channel ENaC
50. Permeability Properties of Enac Selectivity Filter Mutants
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