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Genetics of epidermodysplasia verruciformis: Insights into host defense against papillomaviruses
Abstract
Epidermodysplasia verruciformis (EV) is a rare autosomal recessive genodermatosis associated with a high risk of skin carcinoma. EV results from an abnormal susceptibility to infection by specific human papillomavirus (HPV) genotypes (beta-papillomaviruses) which include the potentially oncogenic HPV5. EV-specific HPVs are considered as harmless for the general population. EV was recently found to be caused by invalidating mutations in two adjacent, related, novel genes, EVER1/TMC6 and EVER2/TMC8. EVER genes encode transmembrane proteins located in the endoplasmic reticulum, which are likely to function as modifiers of ion transporters or channels and to be involved in signal transduction. It was proposed that EV was a primary defect of innate immunity. Our hypothesis is that EVER proteins act as restriction factors for EV-specific HPVs in keratinocytes, and that EV represents a primary deficiency of intrinsic immunity against certain papillomaviruses.
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“Nevertheless, the EVER proteins are also expressed in T cells, and some EV patients seem to have poor cell-mediated immunity (15).”
From Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections (2012) · cites this paper as [15]
In the citing paper
“In the literature, there are currently 2 hypotheses, not mutually exclusive, to explain the pathogenesis of EV in EVER deficiency: EVER deficiency alleviates the inhibition of the expression of the whole genome of EV-HPVs in keratinocytes, and EVER deficiency impairs T cell immunity against EV-HPVs (15,54).”
From Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections (2012) · cites this paper as [15]
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Cited by
Human RHOH deficiency causes T cell defects and susceptibility to EV-HPV infections
Crequer, A., Troeger, A., Patin, E., Ma, C. S., Picard, C., Pedergnana, V., Fieschi, C., Lim, A., Abhyankar, A., Gineau, L., et al. (2012) · Journal of Clinical Investigation · doi:10.1172/jci62949 · Cited by 159
Self-citationBrimer, N., Lyons, C., Wallberg, A. E., & Vande Pol, S. B. (2012) · Oncogene · doi:10.1038/onc.2011.589 · Cited by 133
Metadata
- Authors
- Orth, G.
- Venue
- Seminars in Immunology
- Publisher
- Elsevier BV
- Published
- 2006-12
- Volume
- 18
- Issue
- 6
- Pages
- 362-374
- ISSN
- 1044-5323
- Cited by
- 249
- References
- 4
- Language
- en
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 ›
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