The DOI matches its Crossref record; 32 of the 33 references it cites were found in a registry or an index.
Sustainable correction of junctional epidermolysis bullosa via transposon‐mediated nonviral gene transfer
Abstract
Sustainable correction of severe human genetic disorders of self-renewing tissues, such as the blistering skin disease junctional epidermolysis bullosa (JEB), is facilitated by stable genomic integration of therapeutic genes into somatic tissue stem cells. While integrating viral vectors can achieve this, they suffer from logistical and biosafety concerns. To circumvent these limitations, we used the Sleeping Beauty transposable element to integrate the LAMB3 cDNA into genomes of epidermal holoclones from six unrelated JEB patients. These cells regenerate human JEB skin that is normalized at the level of laminin 5 protein expression, hemidesmosome formation and blistering. Transposon-mediated gene delivery therefore affords an opportunity for stable gene delivery in JEB and other human diseases.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Citations
Cites
Ivics, Z., Hackett, P. B., Plasterk, R. H. A., & Izsvák, Z. (1997) · Cell · doi:10.1016/s0092-8674(00)80436-5 · Cited by 1,431
Three clonal types of keratinocyte with different capacities for multiplication.
Barrandon, Y., & Green, H. (1987) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.84.8.2302 · Cited by 1,293
Khavari, P. A., Peterson, C. L., Tamkun, J. W., Mendel, D. B., & Crabtree, G. R. (1993) · Nature · doi:10.1038/366170a0 · Cited by 670
Self-citationYant, S. R., Meuse, L. A., Chiu, W. S., Ivics, Z., Izsvák, Z., & Kay, M. A. (2000) · Nature Genetics · doi:10.1038/75568 · Cited by 509
Self-citationMarinkovich, M. P., Lunstrum, G. P., & Burgeson, R. E. (1992) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)37127-3 · Cited by 346
Izsvák, Z., Ivics, Z., & Plasterk, R. H. A. (2000) · Journal of Molecular Biology · doi:10.1006/jmbi.2000.4047 · Cited by 332
Ryan, M. C., Lee, K., Miyashita, Y., & Carter, W. G. (1999) · The Journal of Cell Biology · doi:10.1083/jcb.145.6.1309 · Cited by 315
The α6β4 Integrin Is a Receptor for both Laminin and Kalinin
Niessen, C. M., Hogervorst, F. B. L., Jaspars, L. H., de Melker, A. A., Delwel, G. O., Hulsman, E. H. M., Kuikman, I., & Sonnenberg, A. (1994) · Experimental Cell Research · doi:10.1006/excr.1994.1099 · Cited by 311
Laminin 5 Binds the NC-1 Domain of Type VII Collagen
Rousselle, P., Keene, D. R., Ruggiero, F., Champliaud, M.-F., REST, M. V. D., & Burgeson, R. E. (1997) · The Journal of Cell Biology · doi:10.1083/jcb.138.3.719 · Cited by 259
Self-citationCytokine gene expression in epidermis with biological effects following injection of naked DNA
Hengge, U. R., Chan, E. F., Foster, R. A., Walker, P., & Vogel, J. C. (1995) · Nature Genetics · doi:10.1038/ng0695-161 · Cited by 253
Pulkkinen, L., Christiano, A. M., Gerecke, D. R., Wagman, D. W., Burgeson, R. E., Pittelkow, M. R., & Uitto, J. (1994) · Genomics · doi:10.1006/geno.1994.1627 · Cited by 223
Expression of naked DNA in human, pig, and mouse skin.
Hengge, U. R., Walker, P. S., & Vogel, J. C. (1996) · Journal of Clinical Investigation · doi:10.1172/jci118750 · Cited by 201
Kolodka, T. M., Garlick, J. A., & Taichman, L. B. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.8.4356 · Cited by 193
Corrective gene transfer in the human skin disorder lamellar ichthyosis
Choate, K. A., Medalie, D. A., Morgan, J. R., & Khavari, P. A. (1996) · Nature Medicine · doi:10.1038/nm1196-1263 · Cited by 165
Self-citationClonal analysis of stably transduced human epidermal stem cells in culture.
Mathor, M. B., Ferrari, G., Dellambra, E., Cilli, M., Mavilio, F., Cancedda, R., & Luca, M. D. (1996) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.93.19.10371 · Cited by 164
In vivo restoration of laminin 5 β3 expression and function in junctional epidermolysis bullosa
Robbins, P. B., Lin, Q., Goodnough, J. B., Tian, H., Chen, X., & Khavari, P. A. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.091484998 · Cited by 124
Self-citationThe Tc1/mariner Transposon Family
Plasterk, R. H. A. (1996) · Current topics in microbiology and immunology · doi:10.1007/978-3-642-79795-8_6 · Cited by 118
Medalie, D. A., Eming, S. A., Tompkins, R. G., Yarmush, M. L., Krueger, G. G., & Morgan, J. R. (1996) · Journal of Investigative Dermatology · doi:10.1111/1523-1747.ep12298363 · Cited by 117
Direct Cutaneous Gene Delivery in a Human Genetic Skin Disease
Choate, K. A., & Khavari, P. A. (1997) · Human Gene Therapy · doi:10.1089/hum.1997.8.14-1659 · Cited by 100
Self-citationSustainable cutaneous gene delivery
Deng, H., Lin, Q., & Khavari, P. A. (1997) · Nature Biotechnology · doi:10.1038/nbt1297-1388 · Cited by 87
Self-citationA Model of Corrective Gene Transfer in X-Linked Ichthyosis
Freiberg, R. A., Choate, K. A., Deng, H., Alperin, E. S., Shapiro, L. J., & Khavari, P. A. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.6.927 · Cited by 81
Self-citationin vitroでのケラチノサイト幹細胞の証拠 レトロウイルス導入ケラチノサイトの長期移植とトランス遺伝子発現持続
Kolodka, T. M., Garlick, J. A., & Taichman, L. B. (1998) · Cited by 80
BP180 gene delivery in junctional epidermolysis bullosa
Seitz, C. S., Giudice, G. J., Balding, S. D., Marinkovich, M. P., & Khavari, P. A. (1999) · Gene Therapy · doi:10.1038/sj.gt.3300809 · Cited by 76
Self-citationGagnoux-Palacios, L., Vailly, J., Durand‐Clément, M., Wagner, E., Ortonne, J. P., & Meneguzzi, G. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.31.18437 · Cited by 72
Gene Repair and Transposon‐Mediated Gene Therapy
Richardson, P. D., Augustin, L. B., Kren, B. T., & Steer, C. J. (2002) · Stem Cells · doi:10.1634/stemcells.20-2-105 · Cited by 50
Deng, H., Choate, K. A., Lin, Q., & Khavari, P. A. (1998) · BioTechniques · doi:10.2144/98252gt02 · Cited by 35
Self-citationDellambra, E., Prislei, S., Salvati, A. L., Madeddu, M. L., Golisano, O., Siviero, E., Bondanza, S., Cicuzza, S., Orecchia, A., Giancotti, F. G., et al. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m103139200 · Cited by 34
Ma, S., Schuening, F., Graham, T., & Storb, R. F. (1994) · PubMed · Cited by 28
Page, S., & Brownlee, G. G. (1998) · Gene Therapy · doi:10.1038/sj.gt.3300591 · Cited by 25
Robbins, P. B., Sheu, S. M., Goodnough, J. B., & Khavari, P. A. (2001) · Human Gene Therapy · doi:10.1089/104303401750298599 · Cited by 20
Self-citationTranscriptional control in keratinocytes and fibroblasts using synthetic ligands.
Freiberg, R. A., Ho, S. N., & Khavari, P. A. (1997) · Journal of Clinical Investigation · doi:10.1172/jci119449 · Cited by 15
Self-citation[Hereditary Epidermolysis bullosa].
HOO, T. T., & Schopman, W. (1957) · PubMed · Cited by 14
Cited by
Sorted by citations
High-Resolution Genome-Wide Mapping of Transposon Integration in Mammals
Yant, S. R., Wu, X., Huang, Y., Garrison, B. S., Burgess, S. M., & Kay, M. A. (2005) · Molecular and Cellular Biology · doi:10.1128/mcb.25.6.2085-2094.2005 · Cited by 322
Self-citationDevelopment of Hyperactive Sleeping Beauty Transposon Vectors by Mutational Analysis
Zayed, H., Izsvák, Z., Walisko, O., & Ivics, Z. (2004) · Molecular Therapy · doi:10.1016/j.ymthe.2003.11.024 · Cited by 250
Sleeping Beauty Transposition: Biology and Applications for Molecular Therapy
Izsvák, Z., & Ivics, Z. (2004) · Molecular Therapy · doi:10.1016/j.ymthe.2003.11.009 · Cited by 241
A Transposon and Transposase System for Human Application
Hackett, P. B., Largaespada, D. A., & Cooper, L. J. N. (2010) · Molecular Therapy · doi:10.1038/mt.2010.2 · Cited by 209
Keratin gene mutations in disorders of human skin and its appendages
Chamcheu, J. C., Siddiqui, I. A., Syed, D. N., Adhami, V. M., Liović, M., & Mukhtar, H. (2010) · Archives of Biochemistry and Biophysics · doi:10.1016/j.abb.2010.12.019 · Cited by 186
Metadata
- Authors
- Ortiz-Urda, S., Lin, Q., Yant, S. R., Keene, D., Kay, M. A., & Khavari, P. A.
- Affiliations
- VA Palo Alto Health Care System (US)
- Shriners Hospitals for Children - Portland (US)
- Stanford Medicine (US)
- Venue
- Gene Therapy
- Published
- 2003-06-16
- Volume
- 10
- Issue
- 13
- Pages
- 1099-1104
- ISSN
- 0969-7128 (ISSN-L)
- 1476-5462
- OpenAlex
- W2117888324
- Cited by
- 118
- References
- 33
- Citations by year
- 2020: 3 · 2019: 2 · 2017: 8 · 2016: 3 · 2015: 9 · 2014: 5 · 2013: 4 · 2012: 7
- FWCI
- 4.62
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Gene Therapy (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Skin and Cellular Biology Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Animal Genetics and Reproduction
- Keywords
- junctional epidermolysis bullosa, Sleeping Beauty transposon, nonviral gene transfer, LAMB3, laminin-5, epidermal stem cells, skin regeneration, blistering skin disease
- MeSH terms
- Kalinin, Animals, Desmosomes, DNA Transposable Elements, Humans, Regeneration, Skin, Stem Cells, Genetic Therapy, Cell Adhesion Molecules, Epidermolysis Bullosa, Junctional, Microscopy, Immunoelectron, Mice, SCID, Mice
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.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review