| 1 | KRT14, NFJ
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| A missense mutation in KRT14 causing a dermatopathia pigmentosa reticularis/Naegeli-Franceschetti-Jadassohn phenotype.
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| van Steensel MA, Lemmink HH.
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| J Eur Acad Dermatol Venereol 24(9):1116-7. doi: 10.1111/j.1468-3083.2010.03598.x. Epub 2010 Feb 9. No abstract available.
2010
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| 2 | KRT14, NFJ
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| KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome.
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| 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.
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| J Invest Dermatol 128(6):1517-24. Epub 2007 Nov 29.PMID: 18049449 2008
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| 3 | KRT14, DPIR, NFJ
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| Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14.
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| 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.
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| Am J Hum Genet 79(4):724-30. Epub 2006 Aug 25. 2006
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| 4 | NFJ
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| The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21.
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| Whittock NV, Coleman CM, McLean WH, Ashton GH, Acland KM, Eady RA, McGrath JA.
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| J Invest Dermatol 115(4):694-8. 2000
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