Biallelic Missense Mutations in the Integrin Alpha 3 Gene Causes Skin Fragility Without Structural Defects in Lungs and Kidneys
DOI:
https://doi.org/10.2340/actadv.v101.897Abstract
Abstract is missing (Short communication)
Downloads
References
Has C, Sparta G, Kiritsi D, Weibel L, Moeller A, Vega-Warner V, et al. Integrin alpha3 mutations with kidney, lung, and skin disease. N Engl J Med 2012; 366: 1508-1514.
https://doi.org/10.1056/NEJMoa1110813 DOI: https://doi.org/10.1056/NEJMoa1110813
Kreidberg JA, Donovan MJ, Goldstein SL, Rennke H, Shepherd K, Jones RC, et al. Alpha 3 beta 1 integrin has a crucial role in kidney and lung organogenesis. Development 1996; 122: 3537-3547.
https://doi.org/10.1242/dev.122.11.3537 DOI: https://doi.org/10.1242/dev.122.11.3537
Yalcin EG, He Y, Orhan D, Pazzagli C, Emiralioglu N, Has C. Crucial role of posttranslational modifications of integrin alpha3 in interstitial lung disease and nephrotic syndrome. Hum Mol Genet 2015; 24: 3679-3688.
https://doi.org/10.1093/hmg/ddv111 DOI: https://doi.org/10.1093/hmg/ddv111
Colombo EA, Spaccini L, Volpi L, Negri G, Cittaro D, Lazarevic D, et al. Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations. Orphanet J Rare Dis 2016; 11: 136.
https://doi.org/10.1186/s13023-016-0514-z DOI: https://doi.org/10.1186/s13023-016-0514-z
Nicolaou N, Margadant C, Kevelam SH, Lilien MR, Oosterveld MJ, Kreft M, et al. Gain of glycosylation in integrin alpha3 causes lung disease and nephrotic syndrome. J Clin Invest 2012; 122: 4375-4387.
https://doi.org/10.1172/JCI64100 DOI: https://doi.org/10.1172/JCI64100
Shukrun R, Vivante A, Pleniceanu O, Vax E, Anikster Y, Dekel B, et al. A human integrin-alpha3 mutation confers major renal developmental defects. PLoS One 2014; 9: e90879.
https://doi.org/10.1371/journal.pone.0090879 DOI: https://doi.org/10.1371/journal.pone.0090879
Cohen-Barak E, Danial-Farran N, Khayat M, Chervinsky E, Nevet JM, Ziv M, et al. A nonjunctional, nonsyndromic case of junctional epidermolysis bullosa with renal and respiratory involvement. JAMA Dermatol 2019; 155: 498-500.
https://doi.org/10.1001/jamadermatol.2018.5368 DOI: https://doi.org/10.1001/jamadermatol.2018.5368
He Y, Balasubramanian M, Humphreys N, Waruiru C, Brauner M, Kohlhase J, et al. Intronic ITGA3 mutation impacts splicing regulation and causes interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa. J Invest Dermatol 2016; 136: 1056-1059.
https://doi.org/10.1016/j.jid.2015.11.031 DOI: https://doi.org/10.1016/j.jid.2015.11.031
Kinyo A, Kovacs AL, Degrell P, Kalman E, Nagy N, Karpati S, et al. Homozygous ITGA3 missense mutation in adults in a family with syndromic epidermolysis bullosa (ILNEB) without pulmonary involvement. J Invest Dermatol 2021; 141: 2752-2756.
https://doi.org/10.1016/j.jid.2021.03.029 DOI: https://doi.org/10.1016/j.jid.2021.03.029
He Y, Thriene K, Boerries M, Hausser I, Franzke CW, Busch H, et al. Constitutional absence of epithelial integrin alpha3 impacts the composition of the cellular microenvironment of ILNEB keratinocytes. Matrix Biol 2018; 74: 62-76.
https://doi.org/10.1016/j.matbio.2018.07.001 DOI: https://doi.org/10.1016/j.matbio.2018.07.001
Conti FJ, Rudling RJ, Robson A, Hodivala-Dilke KM. alpha3beta1-integrin regulates hair follicle but not interfollicular morphogenesis in adult epidermis. J Cell Sci 2003; 116: 2737-2747.
https://doi.org/10.1242/jcs.00475 DOI: https://doi.org/10.1242/jcs.00475
DenBesten PK, Machule D, Zhang Y, Yan Q, Li W. Characterization of human primary enamel organ epithelial cells in vitro. Arch Oral Biol 2005; 50: 689-694.
https://doi.org/10.1016/j.archoralbio.2004.12.008 DOI: https://doi.org/10.1016/j.archoralbio.2004.12.008
Cameli N, Picardo M, Tosti A, Perrin C, Pisani A, Ortonne JP. Expression of integrins in human nail matrix. Br J Dermatol 1994; 130: 583-588.
https://doi.org/10.1111/j.1365-2133.1994.tb13103.x DOI: https://doi.org/10.1111/j.1365-2133.1994.tb13103.x
Published
How to Cite
License
Copyright (c) 2021 Sang Gyun Lee, Song Ee Kim, Soo-Chan Kim, Sang Eun Lee
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
All digitalized ActaDV contents is available freely online. The Society for Publication of Acta Dermato-Venereologica owns the copyright for all material published until volume 88 (2008) and as from volume 89 (2009) the journal has been published fully Open Access, meaning the authors retain copyright to their work.
Unless otherwise specified, all Open Access articles are published under CC-BY-NC licences, allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material for non-commercial purposes, provided proper attribution to the original work.