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PMID:7715640
| Citation |
Britz-Cunningham, SH, Shah, MM, Zuppan, CW and Fletcher, WH (1995) Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality. N. Engl. J. Med. 332:1323-9 |
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| Abstract |
Gap junctions are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. Connexin43, the major protein of gap junctions in the heart, is targeted by several protein kinases that regulate myocardial cell-cell coupling. We hypothesized that mutations altering sites critical to this regulation would lead to functional or developmental abnormalities of the heart. |
| Links |
PubMed Online version:10.1056/NEJM199505183322002 |
| Keywords |
Adolescent; Base Sequence; Cell Communication; Cell Line; Child; Child, Preschool; Connexin 43/genetics; DNA; Fibroblasts/physiology; Functional Laterality/genetics; Gap Junctions; Heart Defects, Congenital/genetics; Humans; Infant; Infant, Newborn; Molecular Sequence Data; Point Mutation; Proline; Serine; Transfection |
| edit table |
Significance
Annotations
| Gene product | Qualifier | GO Term | Evidence Code | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|
|
involved_in |
GO:0006936: muscle contraction |
ECO:0000304: author statement supported by traceable reference used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0007267: cell-cell signaling |
ECO:0000304: author statement supported by traceable reference used in manual assertion |
P |
Seeded From UniProt |
complete | |||
|
involved_in |
GO:0007507: heart development |
ECO:0000304: author statement supported by traceable reference used in manual assertion |
P |
Seeded From UniProt |
complete | |||
See also
References
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