… and differences between diseases. Here, we will summarize the currently known connexin
genetic … in our understanding of how the underlying connexin mutations contribute to disease. …

… In addition to the loss- or gain-of-function groups, some mutants might exhibit mixed or …
mutation can cause disease. Here, we will give examples of disease-causing connexin mutants …

… In conclusion, this review of Cx mutations associated with human diseases has revealed
several domains of Cx proteins, which are very likely critical for cell coupling. This suggestion …

… period, genetic research on connexins has been … diseases that are caused by connexin
mutations and, second, the generation and characterization of connexin knockout (null) mutated …

… Depending on the cell type and the connexin expressed, connexons can … human pathologies
linked to mutations in connexin genes, we will first review important aspects of connexin…

… Inherited diseases caused by connexin mutations are found in multiple organs and … connexin
mutations in an effort to foster new ideas for the diagnosis and treatment of these diseases. …

… Gap junction proteins and human disease The association of human genetic disease
with specific connexin mutations, in conjunction with the use of gene targeting in mice, is …

… This review focusses on mutations or polymorphisms in cardiovascular Cxs and … human
disease ODDD, it should be noted that the G60S mutation has never been observed in humans. …

… how the expression of a multitude of Cxs results in specific biological functions using mouse
mutagenesis, as well as the molecular cloning of Cx mutations related to human diseases. …

… This review focuses on how a deeper molecular understanding of the over 930 mutations
in 11 connexin-encoding genes is foundational for creating a framework for therapeutic …