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Ophthalmic Genetics Volume 28, 2007 - Issue 4
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Research Article

A New GJA1 (Connexin 43) Mutation Causing Oculodentodigital Dysplasia Associated to Uncommon Features

David Rivera de la Parra Research Unit, Institute of Ophthalmology “Conde de Valenciana, Mexico City, Mexico
&
Juan Carlos Zenteno Department of Genetics, Institute of Ophthalmology “Conde de Valenciana,”, Mexico City, Mexico; Department of Genetics, Institute of Ophthalmology “Conde de Valenciana,”, Mexico City, Mexico
Pages 198-202 | Received 14 Nov 2006, Accepted 09 Jun 2007, Published online: 08 Jul 2009

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Qin Xu, Xianming Lin, Arvydas Matiukas, Xian Zhang & Richard D. Veenstra. (2016) Specificity of the connexin W3/4 locus for functional gap junction formation. Channels 10:6, pages 453-465.
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Articles from other publishers (16)

Michael G. Mfarej, Caitlin A. Hyland, Annie C. Sanchez, Matthias M. Falk, M. Kathryn Iovine & Robert V. Skibbens. (2023) Cohesin: an emerging master regulator at the heart of cardiac development. Molecular Biology of the Cell 34:5.
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Dilek Cavusoglu, Nihal Olgac Dundar, Pinar Arican, Berk Ozyilmaz & Pinar Gencpinar. (2019) A hypomyelinating leukodystrophy with calcification: oculodentodigital dysplasia. Acta Neurologica Belgica 120:5, pages 1177-1179.
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Virang Kumar, Natario L. Couser & Arti Pandya. (2020) Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases. Case Reports in Ophthalmological Medicine 2020, pages 1-16.
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Lilian I. Plotkin, Hannah M. Davis, Bruno A. Cisterna & Juan C. Sáez. (2017) Connexins and Pannexins in Bone and Skeletal Muscle. Current Osteoporosis Reports 15:4, pages 326-334.
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Isaac E. García, Pavel Prado, Amaury Pupo, Oscar Jara, Diana Rojas-Gómez, Paula Mujica, Carolina Flores-Muñoz, Jorge González-Casanova, Carolina Soto-Riveros, Bernardo I. Pinto, Mauricio A. Retamal, Carlos González & Agustín D. Martínez. (2016) Connexinopathies: a structural and functional glimpse. BMC Cell Biology 17:S1.
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Lilian I. Plotkin, Dale W. Laird & Joelle Amedee. (2016) Role of connexins and pannexins during ontogeny, regeneration, and pathologies of bone. BMC Cell Biology 17:S1.
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X Huang, N Wang, X Xiao, S Li & Q Zhang. (2015) A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family. Eye 29:7, pages 972-977.
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Dale W. Laird. (2014) Syndromic and non-syndromic disease-linked Cx43 mutations. FEBS Letters 588:8, pages 1339-1348.
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Charles K. Abrams & Jennifer Orthmann-Murphy. 2013. Gap Junctions in the Brain. Gap Junctions in the Brain 165 187 .
Qing Shao, Qin Liu, Robert Lorentz, Xiang-Qun Gong, Donglin Bai, Gary S. Shaw & Dale W. Laird. (2012) Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia. Molecular Biology of the Cell 23:17, pages 3312-3321.
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Charles K. Abrams & Steven S. Scherer. (2012) Gap junctions in inherited human disorders of the central nervous system. Biochimica et Biophysica Acta (BBA) - Biomembranes 1818:8, pages 2030-2047.
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Anna Pfenniger, Annelise Wohlwend & Brenda R. Kwak. (2011) Mutations in connexin genes and disease. European Journal of Clinical Investigation 41:1, pages 103-116.
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Jana Chtchetinin, Wes D. Gifford, Sichen Li, William A. Paznekas, Ethylin Wang Jabs & Albert Lai. (2009) Tyrosine‐dependent basolateral targeting of human connexin43–eYFP in Madin–Darby canine kidney cells can be disrupted by the oculodentodigital dysplasia mutation L90V. The FEBS Journal 276:23, pages 6992-7005.
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Momoko Himi, Takuro Fujimaki, Toshiyuki Yokoyama, Keiko Fujiki, Toshiaki Takizawa & Akira Murakami. (2009) A case of oculodentodigital dysplasia syndrome with novel GJA1 gene mutation. Japanese Journal of Ophthalmology 53:5, pages 541-545.
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William A. Paznekas, Barbara Karczeski, Sascha Vermeer, R. Brian Lowry, Martin Delatycki, Faivre Laurence, Pasi A. Koivisto, Lionel Van Maldergem, Simeon A. Boyadjiev, Joann N. Bodurtha & Ethylin Wang Jabs. (2009) GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype . Human Mutation 30:5, pages 724-733.
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A. Fenwick, R.J. Richardson, J. Butterworth, M.J. Barron & M.J. Dixon. (2008) Novel Mutations in GJA1 Cause Oculodentodigital syndrome . Journal of Dental Research 87:11, pages 1021-1026.
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