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Cited by 309

The DOI matches its Crossref record; 31 of the 31 references it cites were found in a registry or an index.

The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains

Open access
Srivastava, Anand K., Pispa, Johanna, Hartung, Andrew J., Du, Yangzhu, Ezer, Sini, Jenks, Ted, Shimada, Tokihiko, Pekkanen, Maija, Mikkola, Marja L., Ko, Minoru S. H., Thesleff, Irma, Kere, Juha, Schlessinger, David·1997·Proceedings of the National Academy of Sciences

Abstract

Mouse Tabby (Ta) and X chromosome-linked human EDA share the features of hypoplastic hair, teeth, and eccrine sweat glands. We have cloned the Ta gene and find it to be homologous to the EDA gene. The gene is altered in two Ta alleles with a point mutation or a deletion. The gene is expressed in developing teeth and epidermis; no expression is seen in corresponding tissues from Ta mice.Ta and EDA genes both encode alternatively spliced forms; novel exons now extend the 3′ end of the EDA gene. All transcripts recovered have the same 5′ exon. The longest Ta cDNA encodes a 391-residue transmembrane protein, ectodysplasin-A, containing 19 Gly-Xaa-Yaa repeats. The isoforms of ectodysplasin-A may correlate with differential roles during embryonic development.

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Crossref · 10.1073/pnas.94.24.13069

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Metadata

Authors
Srivastava, A. K., Pispa, J., Hartung, A. J., Du, Y., Ezer, S., Jenks, T., Shimada, T., Pekkanen, M., Mikkola, M. L., Ko, M. S. H., Thesleff, I., Kere, J., & Schlessinger, D.
Venue
Proceedings of the National Academy of Sciences
Published
1997-11-25
Volume
94
Issue
24
Pages
13069-13074
ISSN
  • 0027-8424 (ISSN-L)
  • 1091-6490
OpenAlex
W2129488788
Cited by
309
References
31
FWCI
2.92
Type
journal article
Language
en
Open access
green

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CoChat. (2026). Citation check: The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains. https://app.cochat.ai/papers/10.1073/pnas.94.24.13069
The paper
Srivastava, A. K., Pispa, J., Hartung, A. J., Du, Y., Ezer, S., Jenks, T., Shimada, T., Pekkanen, M., Mikkola, M. L., Ko, M. S. H., Thesleff, I., Kere, J., & Schlessinger, D. (1997). The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.94.24.13069

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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.