The DOI matches its Crossref record; 16 of the 16 references it cites were found in a registry or an index.
Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome
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Citations
Cites
Opposite voltage gating polarities of two closely related onnexins
Verselis, V. K., Ginter, C. S., & Bargiello, T. A. (1994) · Nature · doi:10.1038/368348a0 · Cited by 355
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis
Richard, G., Smith, L. E., Bailey, R. A., Itin, P., Hohl, D., Epstein, E. H., DiGiovanna, J. J., Compton, J. G., & Bale., S. J. (1998) · Nature Genetics · doi:10.1038/3840 · Cited by 344
Self-citationMaestrini, E. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.7.1237 · Cited by 325
Bevans, C. G., Kordel, M., Rhee, S. K., & Harris, A. L. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.5.2808 · Cited by 302
Mutations in GJB6 cause hidrotic ectodermal dysplasia
Lamartine, J., Munhoz Essenfelder, G., Kibar, Z., Lanneluc, I., Callouet, E., Laoudj, D., Lemaître, G., Hand, C., Hayflick, S. J., Zonana, J., et al. (2000) · Nature Genetics · doi:10.1038/79851 · Cited by 284
Negative growth control of HeLa cells by connexin genes: connexin species specificity.
Mesnil, M., Krutovskikh, V. A., Piccoli, C., Elfgang, C., Traub, O., Willecke, K., & Yamasaki, H. (1995) · PubMed · Cited by 269
VanSlyke, J. K., Deschênes, S. M., & Musil, L. S. (2000) · Molecular Biology of the Cell · doi:10.1091/mbc.11.6.1933 · Cited by 212
White, T. W., & Bruzzone, R. (1996) · Journal of Bioenergetics and Biomembranes · doi:10.1007/bf02110110 · Cited by 190
Stem cells of the corneal epithelium lack connexins and metabolite transfer capacity
Matic, M., Petrov, I. N., Chen, S., Wang, C., Wolosin, J. M., & Dimitrijevich, S. D. (1997) · Differentiation · doi:10.1046/j.1432-0436.1997.6140251.x · Cited by 188
Rouan, F., White, T. W., Brown, N., Taylor, A. M., Lucke, T. W., Paul, D. L., Munro, C. S., Uitto, J., Hodgins, M. B., & Richard, G. (2001) · Journal of Cell Science · doi:10.1242/jcs.114.11.2105 · Cited by 177
Self-citation
Cited by
Transcriptional Programming of Normal and Inflamed Human Epidermis at Single-Cell Resolution
Cheng, J. B., Sedgewick, A. J., Finnegan, A. I., Harirchian, P., Lee, J., Kwon, S., Fassett, M. S., Golovato, J., Gray, M., Ghadially, R., et al. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.09.006 · Cited by 284
Itin, P. H., & Fistarol, S. K. (2004) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.30033 · Cited by 180
Metadata
- Authors
- Richard, G., Rouan, F., Willoughby, C. E., Brown, N., Chung, P., Ryynänen, M., Jabs, E. W., Bale, S. J., DiGiovanna, J. J., Uitto, J., & Russell, L.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2002-05
- Volume
- 70
- Issue
- 5
- Pages
- 1341-1348
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2117061251
- Cited by
- 371
- References
- 16
- FWCI
- 8.96
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome. https://app.cochat.ai/papers/10.1086/339986
- The paper
- Richard, G., Rouan, F., Willoughby, C. E., Brown, N., Chung, P., Ryynänen, M., Jabs, E. W., Bale, S. J., DiGiovanna, J. J., Uitto, J., & Russell, L. (2002). Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome. The American Journal of Human Genetics. https://doi.org/10.1086/339986
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
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.
