The DOI matches its Crossref record; 13 of the 13 references it cites were found in a registry or an index.
Mutations of Keratinocyte Transglutaminase in Lamellar Ichthyosis
Abstract
Lamellar ichthyosis is a severe congenital skin disorder characterized by generalized large scales and variable redness. Affected individuals in three families exhibited drastically reduced keratinocyte transglutaminase (TGK) activity. In two of these families, expression of TGK transcripts was diminished or abnormal and no TGK protein was detected. Homozygous or compound heterozygous mutations of the TGK gene were identified in all families. These data suggest that defects in TGK cause lamellar ichthyosis and that intact cross-linkage of cornified cell envelopes is required for epidermal tissue homeostasis.
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Citations
Cites
Transglutaminases: multifunctional cross‐linking enzymes that stabilize tissues
Greenberg, C. S., Birckbichler, P. J., & Rice, R. H. (1991) · The FASEB Journal · doi:10.1096/fasebj.5.15.1683845 · Cited by 985
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Hohl, D., Mehrel, T., Lichti, U., Turner, M. L., Roop, D. R., & Steinert, P. M. (1991) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)38163-8 · Cited by 313
Self-citationMikkola, H. K. A., Syrjälä, M. T., Rasi, V., Vahtera, E. M., Hämäläinen, E., Peltonen, L., & Palotie, A. V. (1994) · Blood · doi:10.1182/blood.v84.2.517.517 · Cited by 171
A Transglutaminase That Converts Interleukin-2 into a Factor Cytotoxic to Oligodendrocytes
Eitan, S., & Schwartz, M. (1993) · Science · doi:10.1126/science.8100369 · Cited by 122
Cladaras, C., Hadzopoulou-Cladaras, M., Felber, B. K., Pavlakis, G., & Zannis, V. I. (1987) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)61655-2 · Cited by 92
Chakravarty, R., & Rice, R. H. (1989) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)31306-6 · Cited by 92
Kim, H. C., Idler, W. W., Kim, I.-G., et al. (1991) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)52469-8 · Cited by 86
Purification of keratinocyte transglutaminase and its expression during squamous differentiation.
Thacher, S. M. (1989) · PubMed · Cited by 78
Analysis of the Cornified Cell Envelope in Lamellar Ichthyosis
Hohl, D. (1993) · Archives of Dermatology · doi:10.1001/archderm.1993.01680260088013 · Cited by 71
Self-citation
Cited by
The skin: an indispensable barrier
Proksch, E., Brandner, J. M., & Jensen, J. (2008) · Experimental Dermatology · doi:10.1111/j.1600-0625.2008.00786.x · Cited by 2,054
The cornified envelope: a model of cell death in the skin
Candi, E., Schmidt, R., & Melino, G. (2005) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm1619 · Cited by 1,776
Stratum Corneum Defensive Functions: An Integrated View
Elias, P. M. (2005) · Journal of Investigative Dermatology · doi:10.1111/j.0022-202x.2005.23668.x · Cited by 772
The skin barrier in healthy and diseased state
Bouwstra, J. A., & Ponec, M. (2006) · Biochimica et Biophysica Acta (BBA) - Biomembranes · doi:10.1016/j.bbamem.2006.06.021 · Cited by 666
Self-citationBricks and mortar of the epidermal barrier
Nemes, Z., & Steinert, P. M. (1999) · Experimental & Molecular Medicine · doi:10.1038/emm.1999.2 · Cited by 567
Metadata
- Authors
- Huber, M., Rettler, I., Bernasconi, K., Frenk, E., Lavrijsen, S. P. M., Ponec, M., Bon, A., Lautenschlager, S., Schorderet, D. F., & Hohl, D.
- Venue
- Science
- Published
- 1995-01-27
- Volume
- 267
- Issue
- 5197
- Pages
- 525-528
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2052522043
- Cited by
- 481
- References
- 13
- FWCI
- 11.93
- Type
- journal article
- Language
- en
- Open access
- closed
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- Huber, M., Rettler, I., Bernasconi, K., Frenk, E., Lavrijsen, S. P. M., Ponec, M., Bon, A., Lautenschlager, S., Schorderet, D. F., & Hohl, D. (1995). Mutations of Keratinocyte Transglutaminase in Lamellar Ichthyosis. Science. https://doi.org/10.1126/science.7824952
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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.
