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Results: 1 to 20 of 22

1.

Keratin 16 regulates innate immunity in response to epidermal barrier breach.

Lessard JC, Piña-Paz S, Rotty JD, Hickerson RP, Kaspar RL, Balmain A, Coulombe PA.

Proc Natl Acad Sci U S A. 2013 Nov 26;110(48):19537-42. doi: 10.1073/pnas.1309576110. Epub 2013 Nov 11.

PMID:
24218583
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Pachyonychia congenita in pediatric patients: natural history, features, and impact.

Shah S, Boen M, Kenner-Bell B, Schwartz M, Rademaker A, Paller AS.

JAMA Dermatol. 2014 Feb;150(2):146-53. doi: 10.1001/jamadermatol.2013.6448.

PMID:
24132595
[PubMed - indexed for MEDLINE]
3.

Microarray analysis of NF-κB-dependent genes in chronic rhinosinusitis with nasal polyps.

Frączek M, Rostkowska-Nadolska B, Kapral M, Szota J, Kręcicki T, Mazurek U.

Adv Clin Exp Med. 2013 Mar-Apr;22(2):209-17.

PMID:
23709377
[PubMed - indexed for MEDLINE]
Free Article
4.

Pachyonychia congenita type 2 (Jackson-Lawler syndrome) or PC-17: case report.

Morais P, Peralta L, Loureiro M, Coelho S.

Acta Dermatovenerol Croat. 2013;21(1):48-51.

PMID:
23683487
[PubMed - indexed for MEDLINE]
5.

Collapse of the keratin filament network through the expression of mutant keratin 6c observed in a case of focal plantar keratoderma.

Kubo A, Oura Y, Hirano T, Aoyama Y, Sato S, Nakamura K, Takae Y, Amagai M.

J Dermatol. 2013 Jul;40(7):553-7. doi: 10.1111/1346-8138.12185. Epub 2013 May 10.

PMID:
23662636
[PubMed - indexed for MEDLINE]
6.

Frizzled6 deficiency disrupts the differentiation process of nail development.

Cui CY, Klar J, Georgii-Heming P, Fröjmark AS, Baig SM, Schlessinger D, Dahl N.

J Invest Dermatol. 2013 Aug;133(8):1990-7. doi: 10.1038/jid.2013.84. Epub 2013 Feb 25.

PMID:
23439395
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Identification of novel cholesteatoma-related gene expression signatures using full-genome microarrays.

Klenke C, Janowski S, Borck D, Widera D, Ebmeyer J, Kalinowski J, Leichtle A, Hofestädt R, Upile T, Kaltschmidt C, Kaltschmidt B, Sudhoff H.

PLoS One. 2012;7(12):e52718. doi: 10.1371/journal.pone.0052718. Epub 2012 Dec 20.

PMID:
23285167
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma.

Du ZF, Xu CM, Zhao Y, Liu WT, Chen XL, Chen CY, Fang H, Ke HP, Zhang XN.

Eur J Dermatol. 2012 Jul-Aug;22(4):476-80. doi: 10.1684/ejd.2012.1773.

PMID:
22668561
[PubMed - indexed for MEDLINE]
9.

Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16.

Spaunhurst KM, Hogendorf AM, Smith FJ, Lingala B, Schwartz ME, Cywinska-Bernas A, Zeman KJ, Tang JY.

Br J Dermatol. 2012 Apr;166(4):875-8. doi: 10.1111/j.1365-2133.2011.10745.x.

PMID:
22098151
[PubMed - indexed for MEDLINE]
10.

Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation.

Akasaka E, Nakano H, Nakano A, Toyomaki Y, Takiyoshi N, Rokunohe D, Nishikawa Y, Korekawa A, Matsuzaki Y, Mitsuhashi Y, Sawamura D.

Br J Dermatol. 2011 Dec;165(6):1290-2. doi: 10.1111/j.1365-2133.2011.10552.x.

PMID:
21801157
[PubMed - indexed for MEDLINE]
11.

UV B-irradiation enhances the racemization and isomerizaiton of aspartyl residues and production of Nε-carboxymethyl lysine (CML) in keratin of skin.

Mori Y, Aki K, Kuge K, Tajima S, Yamanaka N, Kaji Y, Yamamoto N, Nagai R, Yoshii H, Fujii N, Watanabe M, Kinouchi T, Fujii N.

J Chromatogr B Analyt Technol Biomed Life Sci. 2011 Nov 1;879(29):3303-9. doi: 10.1016/j.jchromb.2011.05.010. Epub 2011 May 17.

PMID:
21636332
[PubMed - indexed for MEDLINE]
12.

Paternal germ cell mosaicism in autosomal dominant pachyonychia congenita.

Pho LN, Smith FJ, Konecki D, Bale S, McLean WH, Cohen B, Eliason MJ, Leachman SA.

Arch Dermatol. 2011 Sep;147(9):1077-80. doi: 10.1001/archdermatol.2011.124. Epub 2011 May 16.

PMID:
21576551
[PubMed - indexed for MEDLINE]
13.

The phenotypic and molecular genetic features of pachyonychia congenita.

McLean WH, Hansen CD, Eliason MJ, Smith FJ.

J Invest Dermatol. 2011 May;131(5):1015-7. doi: 10.1038/jid.2011.59. Epub 2011 Mar 24. Review.

PMID:
21430705
[PubMed - indexed for MEDLINE]
Free Article
14.

Statins downregulate K6a promoter activity: a possible therapeutic avenue for pachyonychia congenita.

Zhao Y, Gartner U, Smith FJ, McLean WH.

J Invest Dermatol. 2011 May;131(5):1045-52. doi: 10.1038/jid.2011.41. Epub 2011 Mar 10.

PMID:
21390048
[PubMed - indexed for MEDLINE]
Free Article
15.

A large mutational study in pachyonychia congenita.

Wilson NJ, Leachman SA, Hansen CD, McMullan AC, Milstone LM, Schwartz ME, McLean WH, Hull PR, Smith FJ.

J Invest Dermatol. 2011 May;131(5):1018-24. doi: 10.1038/jid.2011.20. Epub 2011 Feb 17.

PMID:
21326300
[PubMed - indexed for MEDLINE]
Free Article
16.

Keratin gene mutations in disorders of human skin and its appendages.

Chamcheu JC, Siddiqui IA, Syed DN, Adhami VM, Liovic M, Mukhtar H.

Arch Biochem Biophys. 2011 Apr 15;508(2):123-37. doi: 10.1016/j.abb.2010.12.019. Epub 2010 Dec 19. Review.

PMID:
21176769
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations.

Fu T, Leachman SA, Wilson NJ, Smith FJ, Schwartz ME, Tang JY.

J Invest Dermatol. 2011 May;131(5):1025-8. doi: 10.1038/jid.2010.373. Epub 2010 Dec 16.

PMID:
21160496
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

A transcriptional network signature characterizes lung cancer subtypes.

Chang HH, Dreyfuss JM, Ramoni MF.

Cancer. 2011 Jan 15;117(2):353-60. doi: 10.1002/cncr.25592. Epub 2010 Sep 13.

PMID:
20839314
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Pachyonychia congenita: a case report.

Kohli N.

Cutis. 2009 Nov;84(5):269-71.

PMID:
20099620
[PubMed - indexed for MEDLINE]
20.

Rapamycin selectively inhibits expression of an inducible keratin (K6a) in human keratinocytes and improves symptoms in pachyonychia congenita patients.

Hickerson RP, Leake D, Pho LN, Leachman SA, Kaspar RL.

J Dermatol Sci. 2009 Nov;56(2):82-8. doi: 10.1016/j.jdermsci.2009.07.008. Epub 2009 Aug 21.

PMID:
19699613
[PubMed - indexed for MEDLINE]

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