L., et al. Targeted Correction and Restored Function of the CFTR Gene in Cystic Fibrosis Induced Pluripotent Stem Cells. Stem cell reports 4, 569-77 (2015).Crane, AM, Kramer, P, Bui, JH, Chung, WJ, Li, XS, Gonzalez-Garay, ML et al. (2015). Targeted correction and ...
Primary aldosteronism is the most common and curable form of secondary arterial hypertension. We performed whole-exome sequencing in patients with early-onset primary aldosteronism and identified a de novo heterozygous c.71G>A/p.Gly24Asp mutation in theCLCN2gene, encoding the voltage-gated ClC-2 ...
Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene containing a premature termination signal cause a deficiency or absence of functional chloride-channel activity. Aminoglycoside antibiotics can suppress premature termination codons, thus permitting translation to continue to the no...
The single gene responsible for insulin production is located on the short arm of chromosome 11. Preproinsulin is cleaved to form proinsulin which is subsequently transported to the Golgi apparatus where further cleaving occurs forming equimolar amounts of insulin and C-peptide packed in secretory ...
Similar results were also obtained from a mouse infection model of salmonellosis, in which ENaC dysregulation as well as CFTR and DRA downregulation resulted in malabsorptive diarrhea.23 In our patients, the mRNA counts of CFTR and DRA were also reduced. On the one hand, this is in accordance...
The recessive genetic disease cystic fibrosis is caused by loss of function mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Approximately 10% of cystic fibrosis patients have at least one allele with a nonsense mutation in CFTR. Nonsense mutations generate premature ter...
To investigate the mechanisms for the role of CFTR in IPC we used proteomic approaches to analyze changes in the protein expression profiles of both plasma membrane (PM) and mitochondrial (MT) compartments c...
As a preliminary investigation of HKLLS3, we sorted out the most deleterious nonsynonymous single nucleotide polymorphisms (nsSNPs) that might affect the structure and function of ADAMTS3 protein by using a variety of in silico tools. A total of 919 nsSNPs in the ADAMTS3 gene were identified. ...
The assay is a valuable tool for investigation of CFTR molecular mechanisms, allowing accurate inferences on gating/permeation. In addition, by providing a two-dimensional characterization of the CFTR protein, it could better inform development of single-drug and precision therapies addressing the root...
Proteins that bind both DNA and RNA typify the ability of a single gene product to perform multiple functions. Such DNA- and RNA-binding proteins (DRBPs) have unique functional characteristics that stem from their specific structural features; these developed early in evolution and are widely conse...