21871435 26069458 21607541 24434540 15644317 12457340 15039974 34035645 18161618 16492141 12584438 33080786 18831677 12400068 12021949 16219735 16378922 19725242 17420259 14729836 12537662 21328561 15108203 10860664 - Search Results

Year	Number of Results
2000	1
2002	5
2003	1
2004	3
2005	3
2006	1
2007	2
2009	2
2011	3
2012	1
2014	1
2015	1
2020	1
2021	1
2022	0

1

Gap junctions in inherited human disorders of the central nervous system.

Abrams CK, Scherer SS. Abrams CK, et al. Biochim Biophys Acta. 2012 Aug;1818(8):2030-47. doi: 10.1016/j.bbamem.2011.08.015. Epub 2011 Aug 16. Biochim Biophys Acta. 2012. PMID: 21871435 Free PMC article. Review.

2

Advances in the Molecular Genetics of Non-syndromic Syndactyly.

Deng H, Tan T. Deng H, et al. Curr Genomics. 2015 Jun;16(3):183-93. doi: 10.2174/1389202916666150317233103. Curr Genomics. 2015. PMID: 26069458 Free PMC article.

3

Connecting the renin-angiotensin-aldosterone system with sudden death.

Luft FC. Luft FC. J Mol Med (Berl). 2011 Jul;89(7):631-3. doi: 10.1007/s00109-011-0772-0. J Mol Med (Berl). 2011. PMID: 21607541 No abstract available.

4

Syndromic and non-syndromic disease-linked Cx43 mutations.

Laird DW. Laird DW. FEBS Lett. 2014 Apr 17;588(8):1339-48. doi: 10.1016/j.febslet.2013.12.022. Epub 2014 Jan 14. FEBS Lett. 2014. PMID: 24434540 Free article. Review.

5

Oculodentodigital dysplasia-causing connexin43 mutants are non-functional and exhibit dominant effects on wild-type connexin43.

Roscoe W, Veitch GI, Gong XQ, Pellegrino E, Bai D, McLachlan E, Shao Q, Kidder GM, Laird DW. Roscoe W, et al. J Biol Chem. 2005 Mar 25;280(12):11458-66. doi: 10.1074/jbc.M409564200. Epub 2005 Jan 10. J Biol Chem. 2005. PMID: 15644317 Free article.

6

Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, Jabs EW. Paznekas WA, et al. Am J Hum Genet. 2003 Feb;72(2):408-18. doi: 10.1086/346090. Epub 2002 Nov 27. Am J Hum Genet. 2003. PMID: 12457340 Free PMC article.

7

A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin.

Malik S, Arshad M, Amin-Ud-Din M, Oeffner F, Dempfle A, Haque S, Koch MC, Ahmad W, Grzeschik KH. Malik S, et al. Am J Med Genet A. 2004 Apr 1;126A(1):61-7. doi: 10.1002/ajmg.a.20555. Am J Med Genet A. 2004. PMID: 15039974

8

Heterozygous GJA1 variants with ocular phenotype: Missense in domain but truncation out of domain.

Li X, Xiao X, Li S, Ouyang J, Sun W, Liu X, Zhang Q. Li X, et al. Mol Vis. 2021 May 13;27:309-322. eCollection 2021. Mol Vis. 2021. PMID: 34035645 Free PMC article.

9

A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features.

de la Parra DR, Zenteno JC. de la Parra DR, et al. Ophthalmic Genet. 2007 Dec;28(4):198-202. doi: 10.1080/13816810701538620. Ophthalmic Genet. 2007. PMID: 18161618

10

Life cycle of connexins in health and disease.

Laird DW. Laird DW. Biochem J. 2006 Mar 15;394(Pt 3):527-43. doi: 10.1042/BJ20051922. Biochem J. 2006. PMID: 16492141 Free PMC article. Review.

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