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Cited by 264

The DOI matches its Crossref record; 55 of the 55 references it cites were found in a registry or an index.

GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype

Open access
Paznekas, William A., Karczeski, Barbara, Vermeer, Sascha, Lowry, R. Brian, Delatycki, Martin, Laurence, Faivre, Koivisto, Pasi A., Van Maldergem, Lionel, Boyadjiev, Simeon A., Bodurtha, Joann N., Wang Jabs, Ethylin·2009·Human Mutation
DOI 10.1002/humu.20958
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Abstract

The predominantly autosomal dominant disorder, oculodentodigital dysplasia (ODDD) has high penetrance with intra- and interfamilial phenotypic variability. Abnormalities observed in ODDD affect the eye, dentition, and digits of the hands and feet. Patients present with a characteristic facial appearance, narrow nose, and hypoplastic alae nasi. Neurological problems, including dysarthria, neurogenic bladder disturbances, spastic paraparesis, ataxia, anterior tibial muscle weakness, and seizures, are known to occur as well as conductive hearing loss, cardiac defects, and anomalies of the skin, hair, and nails. In 2003, our analysis of 17 ODDD families revealed that each had a different mutation within the human gap junction alpha 1 (GJA1) gene which encodes the protein connexin 43 (Cx43). Since then at least 17 publications have identified an additional 26 GJA1 mutations and in this study, we present 28 new cases with 18 novel GJA1 mutations. We include tables summarizing the 62 known GJA1 nucleotide changes leading to Cx43 protein alterations and the phenotypic information available on 177 affected individuals from 54 genotyped families. Mutations resulting in ODDD occur in each of the nine domains of the Cx43 protein, and we review our functional experiments and those in the literature, examining the effects of 13 different Cx43 mutations upon gap junction activity.

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Metadata

Authors
Paznekas, W. A., Karczeski, B., Vermeer, S., Lowry, R. B., Delatycki, M., Laurence, F., Koivisto, P. A., Van Maldergem, L., Boyadjiev, S. A., Bodurtha, J. N., & Wang Jabs, E.
Venue
Human Mutation
Publisher
Hindawi Limited
Published
2009-05
Volume
30
Issue
5
Pages
724-733
ISSN
  • 1059-7794 (ISSN-L)
  • 1098-1004
DOI
10.1002/humu.20958
OpenAlex
W2136556762
Cited by
264
References
55
FWCI
8.52
Type
journal article
Language
en
Open access
bronze

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CoChat. (2026). Citation check: GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. https://app.cochat.ai/papers/10.1002/humu.20958
The paper
Paznekas, W. A., Karczeski, B., Vermeer, S., Lowry, R. B., Delatycki, M., Laurence, F., Koivisto, P. A., Van Maldergem, L., Boyadjiev, S. A., Bodurtha, J. N., & Wang Jabs, E. (2009). GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. Human Mutation. https://doi.org/10.1002/humu.20958

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.