The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Integrin α 3 Mutations with Kidney, Lung, and Skin Disease
Open accessAbstract
Integrin α(3) is a transmembrane integrin receptor subunit that mediates signals between the cells and their microenvironment. We identified three patients with homozygous mutations in the integrin α(3) gene that were associated with disrupted basement-membrane structures and compromised barrier functions in kidney, lung, and skin. The patients had a multiorgan disorder that included congenital nephrotic syndrome, interstitial lung disease, and epidermolysis bullosa. The renal and respiratory features predominated, and the lung involvement accounted for the lethal course of the disease. Although skin fragility was mild, it provided clues to the diagnosis.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
The Extracellular Matrix: Not Just Pretty Fibrils
Hynes, R. O. (2009) · Science · doi:10.1126/science.1176009 · Cited by 3,527
Cited by
Targeting integrin pathways: mechanisms and advances in therapy
Pang, X., He, X., Qiu, Z., Zhang, H., Xie, R., Liu, Z., Gu, Y., Zhao, N., Xiang, Q., & Cui, Y. (2023) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-022-01259-6 · Cited by 1,275
Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification
Fine, J.-D., Bruckner-Tuderman, L., Eady, R. A. J., Bauer, E. A., Bauer, J. W., Has, C., Heagerty, A., Hintner, H., Hovnanian, A., Jonkman, M. F., et al. (2014) · Journal of the American Academy of Dermatology · doi:10.1016/j.jaad.2014.01.903 · Cited by 938
Self-citationA single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome
Sadowski, C. E., Lovric, S., Ashraf, S., Pabst, W. L., Gee, H. Y., Kohl, S., Engelmann, S., Vega-Warner, V., Fang, H., Halbritter, J., et al. (2015) · Journal of the American Society of Nephrology · doi:10.1681/asn.2014050489 · Cited by 651
Self-citationThe integrin adhesome: from genes and proteins to human disease
Winograd-Katz, S. E., Fässler, R., Geiger, B., & Legate, K. R. (2014) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3769 · Cited by 623
Bardhan, A., Bruckner-Tuderman, L., Chapple, I. L. C., Fine, J.-D., Harper, N., Has, C., Magin, T. M., Marinkovich, M. P., Marshall, J. F., McGrath, J. A., et al. (2020) · Nature Reviews Disease Primers · doi:10.1038/s41572-020-0210-0 · Cited by 455
Self-citation
Metadata
- Authors
- Has, C., Spartà, G., Kiritsi, D., Weibel, L., Moeller, A., Vega-Warner, V., Waters, A., He, Y., Anikster, Y., Esser, P., Straub, B. K., Hausser, I., Bockenhauer, D., Dekel, B., Hildebrandt, F., Bruckner-Tuderman, L., & Laube, G. F.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2012-04-19
- Volume
- 366
- Issue
- 16
- Pages
- 1508-1514
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2088210106
- Cited by
- 253
- References
- 1
- FWCI
- 15.74
- Type
- journal article
- Language
- en
- Open access
- bronze
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
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Integrin α 3 Mutations with Kidney, Lung, and Skin Disease. https://app.cochat.ai/papers/10.1056/nejmoa1110813
- The paper
- Has, C., Spartà, G., Kiritsi, D., Weibel, L., Moeller, A., Vega-Warner, V., Waters, A., He, Y., Anikster, Y., Esser, P., Straub, B. K., Hausser, I., Bockenhauer, D., Dekel, B., Hildebrandt, F., Bruckner-Tuderman, L., & Laube, G. F. (2012). Integrin α 3 Mutations with Kidney, Lung, and Skin Disease. New England Journal of Medicine. https://doi.org/10.1056/nejmoa1110813
Data sources
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.
