A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia.
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There are several reports of hypodontia in humans resulting from altered EDA function that do not show other phenotypes such as hypothrichosis or nail defects.
“There are several reports of hypodontia in humans resulting from altered EDA function that do not show other phenotypes such as hypothrichosis or nail defects [50]–[52].”
From Zebrafish eda and edar Mutants Reveal Conserved and Ancestral Roles of Ectodysplasin Signaling in Vertebrates (2008) · cites this paper as [52]
Cites
Kere, J., Srivastava, A. K., Montonen, O., Zonana, J., Thomas, N., Ferguson, B., Munoz, F., Morgan, D., Clarke, A., Baybayan, P., et al. (1996) · Nature Genetics · doi:10.1038/ng0895-409 · Cited by 749 · see citing works
Clinical aspects of X-linked hypohidrotic ectodermal dysplasia.
Clarke, A., Phillips, D. I., Brown, R., & Harper, P. S. (1987) · Archives of Disease in Childhood · doi:10.1136/adc.62.10.989 · Cited by 274 · see citing works
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Harris, M. P., Rohner, N., Schwarz, H., Perathoner, S., Konstantinidis, P., & Nüsslein-Volhard, C. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000206 · Cited by 224 · see citing works
The EDA/EDAR/NF-κB pathway in non-syndromic tooth agenesis: A genetic perspective
Gao, Y., Jiang, X., Wei, Z., Long, H., & Lai, W. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1168538 · Cited by 33 · see citing works
- Authors
- Tarpey, P., Pemberton, T. J., Stockton, D. W., Das, P., Ninis, V., Edkins, S., Andrew Futreal, P., Wooster, R., Kamath, S., Nayak, R., Stratton, M. R., & Patel, P. I.
- Affiliations
- Wellcome Sanger Institute (GB)
- University of Southern California (US)
- Baylor College of Medicine (US)
- Kasturba Medical College, Mangalore (IN)
- Corresponding author
- Patel, Pragna I.
- ORCID
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2007-01-26
- Volume
- 143A
- Issue
- 4
- Pages
- 390-394
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- OpenAlex
- W1978609814
- Cited by
- 51
- References
- 2
- Citations by year
- 2025: 2 · 2024: 1 · 2023: 1 · 2022: 1 · 2020: 1 · 2018: 3 · 2017: 3 · 2016: 5 · 2015: 2 · 2014: 5 · 2013: 4 · 2012: 1
- FWCI
- 2.47
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Wellcome Trust
- Robert J. Kleberg, Jr. and Helen C. Kleberg Foundation
- National Institutes of Health (1c06rr010600-01)
- National Cancer Institute (C06CA62528-01, C06CA062528)
- National Institute of Dental and Craniofacial Research (R01DE014102, DE014102)
- National Center for Research Resources (C06 RR 10600-01, C06RR14514-01, C06RR014514)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › dental development and anomalies
- Health Sciences › Medicine › Rheumatology › Bone and Dental Protein Studies
- Health Sciences › Medicine › Urology › Hair Growth and Disorders
- Keywords
- ectodysplasin A, EDA, X-linked dominant inheritance, tooth agenesis
- MeSH terms
- Amino Acid Sequence, Animals, Anodontia, Base Sequence, Glycine, Humans, Incisor, Molecular Sequence Data, Mutation, Pedigree, Radiography, Sequence Alignment, Glutamic Acid, Amino Acid Substitution, Genetic Diseases, X-Linked, Genes, X-Linked, Ectodysplasins
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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