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Page 1
KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome.
Lugassy J, McGrath JA, Itin P, Shemer R, Verbov J, Murphy HR, Ishida-Yamamoto A, Digiovanna JJ, Bercovich D, Karin N, Vitenshtein A, Uitto J, Bergman R, Richard G, Sprecher E. Lugassy J, et al. J Invest Dermatol. 2008 Jun;128(6):1517-24. doi: 10.1038/sj.jid.5701187. Epub 2007 Nov 29. J Invest Dermatol. 2008. PMID: 18049449 Free article.
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.
Lugassy J, Itin P, Ishida-Yamamoto A, Holland K, Huson S, Geiger D, Hennies HC, Indelman M, Bercovich D, Uitto J, Bergman R, McGrath JA, Richard G, Sprecher E. Lugassy J, et al. Am J Hum Genet. 2006 Oct;79(4):724-30. doi: 10.1086/507792. Epub 2006 Aug 25. Am J Hum Genet. 2006. PMID: 16960809 Free PMC article.
Novel mutations in DSG1 causing striate palmoplantar keratoderma.
Hershkovitz D, Lugassy J, Indelman M, Bergman R, Sprecher E. Hershkovitz D, et al. Among authors: lugassy j. Clin Exp Dermatol. 2009 Mar;34(2):224-8. doi: 10.1111/j.1365-2230.2008.02733.x. Epub 2008 Nov 6. Clin Exp Dermatol. 2009. PMID: 19018793
Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.
Eckl KM, de Juanes S, Kurtenbach J, Nätebus M, Lugassy J, Oji V, Traupe H, Preil ML, Martínez F, Smolle J, Harel A, Krieg P, Sprecher E, Hennies HC. Eckl KM, et al. Among authors: lugassy j. J Invest Dermatol. 2009 Jun;129(6):1421-8. doi: 10.1038/jid.2008.409. Epub 2009 Jan 8. J Invest Dermatol. 2009. PMID: 19131948 Free article.
PD-1 and CTLA-4 serve as major gatekeepers for effector and cytotoxic T-cell potentiation by limiting a CXCL9/10-CXCR3-IFNγ positive feedback loop.
Abdala-Saleh N, Lugassy J, Shivakumar-Kalvhati A, Turky A, Abu Ras S, Razon H, Berger N, Bar-On D, Bar-On Y, Taura T, Wilson D, Karin N. Abdala-Saleh N, et al. Among authors: lugassy j. Front Immunol. 2024 Oct 15;15:1452212. doi: 10.3389/fimmu.2024.1452212. eCollection 2024. Front Immunol. 2024. PMID: 39474427 Free PMC article.