PMID- 24966059
OWN - NLM
STAT- MEDLINE
DCOM- 20150922
LR  - 20161020
IS  - 1768-322X (Electronic)
IS  - 0248-4900 (Linking)
VI  - 106
IP  - 9
DP  - 2014 Sep
TI  - Mutations in cardiovascular connexin genes.
PG  - 269-93
LID - 10.1111/boc.201400038 [doi]
AB  - Connexins (Cxs) form a family of transmembrane proteins comprising 21 members in 
      humans. Cxs differ in their expression patterns, biophysical properties and 
      ability to combine into homomeric or heteromeric gap junction channels between 
      neighbouring cells. The permeation of ions and small metabolites through gap 
      junction channels or hemichannels confers a crucial role to these proteins in 
      intercellular communication and in maintaining tissue homeostasis. Among others, 
      Cx37, Cx40, Cx43, Cx45 and Cx47 are found in heart, blood and lymphatic vessels. 
      Mutations or polymorphisms in the genes coding for these Cxs have not only been 
      implicated in cardiovascular pathologies but also in a variety of other 
      disorders. While mutations in Cx43 are mostly linked to oculodentodigital 
      dysplasia, Cx47 mutations are associated with Pelizaeus-Merzbacher-like disease 
      and lymphoedema. Cx40 mutations are principally linked to atrial fibrillation. 
      Mutations in Cx37 have not yet been described, but polymorphisms in the Cx37 gene 
      have been implicated in the development of arterial disease. This review 
      addresses current knowledge on gene mutations in cardiovascular Cxs 
      systematically and links them to alterations in channel properties and disease.
CI  - (c) 2014 Societe Francaise des Microscopies and Societe de Biologie Cellulaire de 
      France. Published by John Wiley & Sons Ltd.
FAU - Molica, Filippo
AU  - Molica F
AD  - Department of Pathology and Immunology, Faculty of Medicine, University of 
      Geneva, Geneva, Switzerland; Department of Medical Specializations - Cardiology, 
      Faculty of Medicine, University of Geneva, Geneva, Switzerland.
FAU - Meens, Merlijn J P
AU  - Meens MJ
FAU - Morel, Sandrine
AU  - Morel S
FAU - Kwak, Brenda R
AU  - Kwak BR
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20140724
PL  - England
TA  - Biol Cell
JT  - Biology of the cell
JID - 8108529
RN  - 0 (Connexins)
SB  - IM
MH  - Cardiovascular Diseases/etiology/*genetics/metabolism
MH  - Cardiovascular System/*metabolism
MH  - Cell Communication/genetics
MH  - Connexins/*genetics/metabolism
MH  - Gap Junctions/genetics/metabolism
MH  - Humans
MH  - *Mutation
OTO - NOTNLM
OT  - Connexins
OT  - Gap junctions
OT  - Gene mutations
OT  - Genetic diseases
EDAT- 2014/06/27 06:00
MHDA- 2015/09/24 06:00
CRDT- 2014/06/27 06:00
PHST- 2014/05/14 00:00 [received]
PHST- 2014/06/20 00:00 [accepted]
PHST- 2014/06/27 06:00 [entrez]
PHST- 2014/06/27 06:00 [pubmed]
PHST- 2015/09/24 06:00 [medline]
AID - 10.1111/boc.201400038 [doi]
PST - ppublish
SO  - Biol Cell. 2014 Sep;106(9):269-93. doi: 10.1111/boc.201400038. Epub 2014 Jul 24.