• Publications
  • Influence
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism
TLDR
De novo germline mutations at identical positions in two children with a previously undescribed syndrome featuring primary aldosteronism and neuromuscular abnormalities are identified and implicate gain-of-function Ca2+ channel mutations in APAs and primary a Aldosterone-producing adenomas. Expand
Engaging neuroscience to advance translational research in brain barrier biology
The delivery of many potentially therapeutic and diagnostic compounds to specific areas of the brain is restricted by brain barriers, of which the most well known are the blood–brain barrier (BBB)Expand
Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies
TLDR
A gene associated with the chloride-channel gene CLCN2, which causes a loss of function of ClC-2 channels and is expected to lower the transmembrane chloride gradient essential for GABAergic inhibition, is reported. Expand
Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism
TLDR
This mutation explains disease pathogenesis and provides new insight into mechanisms mediating aldosterone production and hypertension, and performs exome sequencing of 40 unrelated subjects with hypertension due to primary aldosteronism by age 10. Expand
Barttin modulates trafficking and function of ClC-K channels.
TLDR
The multiple functions of barttin might be necessary for a tight adjustment of epithelial Cl(-) conductances to ensure a precise regulation of body salt content and endocochlear potential. Expand
Disease-causing dysfunctions of barttin in Bartter syndrome type IV.
TLDR
The results demonstrate that Bartter syndrome type IV can be caused by various derangements in the function of barttin, likely contributing to the diversity of observed phenotypes. Expand
The Role of the Carboxyl Terminus in ClC Chloride Channel Function*
TLDR
The results demonstrate that the carboxyl terminus of ClC-1 is not necessary for intracellular trafficking but is critical for channel function. Expand
Ion permeation and selectivity in ClC-type chloride channels.
  • C. Fahlke
  • Chemistry, Medicine
  • American journal of physiology. Renal physiology
  • 1 May 2001
TLDR
This review will describe recent experiments using a combination of cellular electrophysiology, molecular genetics, and recombinant DNA technology to study the molecular basis of ion permeation and selection in ClC-type chloride channels. Expand
Pore-forming segments in voltage-gated chloride channels
TLDR
This work has identified regions of a human skeletal muscle ClC isoform that contribute to formation of its anion-selective conduction pathway and identified an evolutionarily conserved sequence motif: GKxGPxxH that may constitute a ‘signature’ sequence for an anion -selective ion pore. Expand
Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.
TLDR
Functional data is provided implicating a hypomorphic allele of BSND as a cause of apparent nonsyndromic deafness and it is demonstrated that BSND mutations with different functional consequences are the basis for either syndromic or nonsy secondary deafness. Expand
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