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Syndromic and non-syndromic disease-linked Cx43 mutations.
FEBS Lett. 2014 Apr 17; 588(8):1339-48.FL

Abstract

There are now at least 14 distinct diseases linked to germ line mutations in the 21 genes that encode the connexin (Cx) family of gap junction proteins. This review focuses on the links between germ-line mutations in the gene encoding Cx43 (GJA1) and the human disease termed oculodentodigital dysplasia (ODDD). This disease is clinically characterized by soft tissue fusion of the digits, abnormal craniofacial bone development, small eyes and loss of tooth enamel. However, the disease is considerably more complex and somewhat degenerative as patients often suffer from other syndromic effects that include incontinence, glaucoma, skin diseases and neuropathies that become more pronounced during aging. The challenge continues to be understanding how distinct Cx43 gene mutations cause such a diverse range of tissue phenotypes and pathophysiological changes while other Cx43-rich organs are relatively unaffected. This review will provide an overview of many of these studies and distill some themes and outstanding questions that need to be addressed in the coming years.

Authors+Show Affiliations

Department of Anatomy and Cell Biology, University of Western Ontario, London, Ontario N6A 5C1, Canada; Department of Physiology and Pharmacology, University of Western Ontario, London, Ontario N6A 5C1, Canada. Electronic address: Dale.laird@schulich.uwo.ca.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

24434540

Citation

Laird, Dale W.. "Syndromic and Non-syndromic Disease-linked Cx43 Mutations." FEBS Letters, vol. 588, no. 8, 2014, pp. 1339-48.
Laird DW. Syndromic and non-syndromic disease-linked Cx43 mutations. FEBS Lett. 2014;588(8):1339-48.
Laird, D. W. (2014). Syndromic and non-syndromic disease-linked Cx43 mutations. FEBS Letters, 588(8), 1339-48. https://doi.org/10.1016/j.febslet.2013.12.022
Laird DW. Syndromic and Non-syndromic Disease-linked Cx43 Mutations. FEBS Lett. 2014 Apr 17;588(8):1339-48. PubMed PMID: 24434540.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Syndromic and non-syndromic disease-linked Cx43 mutations. A1 - Laird,Dale W, Y1 - 2014/01/14/ PY - 2013/12/18/received PY - 2013/12/30/accepted PY - 2014/1/18/entrez PY - 2014/1/18/pubmed PY - 2014/6/16/medline KW - Cx43 KW - Gap junction KW - Germ-line KW - Oculodentodigital dysplasia SP - 1339 EP - 48 JF - FEBS letters JO - FEBS Lett. VL - 588 IS - 8 N2 - There are now at least 14 distinct diseases linked to germ line mutations in the 21 genes that encode the connexin (Cx) family of gap junction proteins. This review focuses on the links between germ-line mutations in the gene encoding Cx43 (GJA1) and the human disease termed oculodentodigital dysplasia (ODDD). This disease is clinically characterized by soft tissue fusion of the digits, abnormal craniofacial bone development, small eyes and loss of tooth enamel. However, the disease is considerably more complex and somewhat degenerative as patients often suffer from other syndromic effects that include incontinence, glaucoma, skin diseases and neuropathies that become more pronounced during aging. The challenge continues to be understanding how distinct Cx43 gene mutations cause such a diverse range of tissue phenotypes and pathophysiological changes while other Cx43-rich organs are relatively unaffected. This review will provide an overview of many of these studies and distill some themes and outstanding questions that need to be addressed in the coming years. SN - 1873-3468 UR - https://www.unboundmedicine.com/medline/citation/24434540/Syndromic_and_non_syndromic_disease_linked_Cx43_mutations_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0014-5793(14)00002-7 DB - PRIME DP - Unbound Medicine ER -