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Results: 1 to 20 of 56

Select item 227162421.

Progress towards genetic and pharmacological therapies for keratin genodermatoses: current perspective and future promise.

Chamcheu JC, Wood GS, Siddiqui IA, Syed DN, Adhami VM, Teng JM, Mukhtar H.

Exp Dermatol. 2012 Jul;21(7):481-9. doi: 10.1111/j.1600-0625.2012.01534.x. Review.

PMID:: 22716242; [PubMed - indexed for MEDLINE]

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Select item 226952862.

Double trouble: homozygous dominant mutations and hair loss in pachyonychia congenita.

Irvine AD.

J Invest Dermatol. 2012 Jul;132(7):1757-9. doi: 10.1038/jid.2012.121.

PMID:: 22695286; [PubMed - indexed for MEDLINE]

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Select item 226685613.

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]

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Select item 223369494.

Homozygous dominant missense mutation in keratin 17 leads to alopecia in addition to severe pachyonychia congenita.

Wilson NJ, Pérez ML, Vahlquist A, Schwartz ME, Hansen CD, McLean WH, Smith FJ.

J Invest Dermatol. 2012 Jul;132(7):1921-4. doi: 10.1038/jid.2011.484. Epub 2012 Feb 16. No abstract available.

PMID:: 22336949; [PubMed - indexed for MEDLINE]

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Select item 222819225.

Do you know this syndrome? Pachyonychia congenita.

Duarte GV, Cunha R.

An Bras Dermatol. 2011 Nov-Dec;86(6):1222-7. English, Portuguese.

PMID:: 22281922; [PubMed - indexed for MEDLINE]

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Select item 222646706.

A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita.

Eliason MJ, Leachman SA, Feng BJ, Schwartz ME, Hansen CD.

J Am Acad Dermatol. 2012 Oct;67(4):680-6. doi: 10.1016/j.jaad.2011.12.009. Epub 2012 Jan 20.

PMID:: 22264670; [PubMed - indexed for MEDLINE]

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Select item 220981517.

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]

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Select item 220806968.

Pachyonychia congenita affecting only nails.

Kumar P, Debbarman P, Mondal A.

Indian Pediatr. 2011 Oct;48(10):829. No abstract available.

PMID:: 22080696; [PubMed - indexed for MEDLINE]

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Select item 218904919.

Keratin disorders: from gene to therapy.

McLean WH, Moore CB.

Hum Mol Genet. 2011 Oct 15;20(R2):R189-97. doi: 10.1093/hmg/ddr379. Epub 2011 Sep 2. Review.

PMID:: 21890491; [PubMed - indexed for MEDLINE]

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Select item 2180115710.

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]

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Select item 2179052311.

Transgrediens pachyonychia congenita (PC): case series of a nonclassical PC presentation.

Harris K, Hull PR, Hansen CD, Smith FJ, McLean WH, Arbiser JL, Leachman SA.

Br J Dermatol. 2012 Jan;166(1):124-8. doi: 10.1111/j.1365-2133.2011.10537.x.

PMID:: 21790523; [PubMed - indexed for MEDLINE]

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Select item 2166842612.

A novel frameshift mutation in keratin 16 underlies pachyonychia congenita with focal palmoplantar keratoderma.

Cao LH, Luo Y, Wen W, Liu WL, Jiang L, Chen C, Ji CY, Zhang X.

Br J Dermatol. 2011 Nov;165(5):1145-7. doi: 10.1111/j.1365-2133.2011.10450.x. No abstract available.

PMID:: 21668426; [PubMed - indexed for MEDLINE]

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Select item 2160194613.

An appraisal of oral retinoids in the treatment of pachyonychia congenita.

Gruber R, Edlinger M, Kaspar RL, Hansen CD, Leachman S, Milstone LM, Smith FJ, Sidoroff A, Fritsch PO, Schmuth M.

J Am Acad Dermatol. 2012 Jun;66(6):e193-9. doi: 10.1016/j.jaad.2011.02.003. Epub 2011 May 24.

PMID:: 21601946; [PubMed - indexed for MEDLINE]

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Select item 2157655114.

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]

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Select item 2155438315.

Pachyonychia congenita with laryngeal obstruction.

Haber RM, Drummond D.

Pediatr Dermatol. 2011 Jul-Aug;28(4):429-32. doi: 10.1111/j.1525-1470.2011.01232.x. Epub 2011 May 10.

PMID:: 21554383; [PubMed - indexed for MEDLINE]

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Select item 2149424216.

Toward a treatment for pachyonychia congenita: report on the 7th Annual International Pachyonychia Congenita Consortium meeting.

Kaspar RL, Leachman SA, McLean WH, Schwartz ME.

J Invest Dermatol. 2011 May;131(5):1011-4. doi: 10.1038/jid.2011.44. No abstract available.

PMID:: 21494242; [PubMed - indexed for MEDLINE]

Free Article

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Select item 2149423317.

Pachyonychia congenita: cast in translation.

McGrath JA.

J Invest Dermatol. 2011 May;131(5):995. doi: 10.1038/jid.2011.52. No abstract available.

PMID:: 21494233; [PubMed - indexed for MEDLINE]

Free Article

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Select item 2143070518.

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

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Select item 2139004819.

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

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Select item 2132630020.

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]

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5 free full-text articles in PubMed Central

Review Progress towards genetic and pharmacological therapies for keratin genodermatoses: current perspective and future promise. [Exp Dermatol. 2012]
Review Progress towards genetic and pharmacological therapies for keratin genodermatoses: current perspective and future promise.
Chamcheu JC, Wood GS, Siddiqui IA, Syed DN, Adhami VM, Teng JM, Mukhtar H. Exp Dermatol. 2012 Jul; 21(7):481-9.
Review Keratin gene mutations in disorders of human skin and its appendages. [Arch Biochem Biophys. 2011]
Review 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. Epub 2010 Dec 19.
First-in-human mutation-targeted siRNA phase Ib trial of an inherited skin disorder. [Mol Ther. 2010]
First-in-human mutation-targeted siRNA phase Ib trial of an inherited skin disorder.
Leachman SA, Hickerson RP, Schwartz ME, Bullough EE, Hutcherson SL, Boucher KM, Hansen CD, Eliason MJ, Srivatsa GS, Kornbrust DJ, et al. Mol Ther. 2010 Feb; 18(2):442-6. Epub 2009 Nov 24.

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