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Results: 1 to 20 of 100

1.

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]
Free PMC Article
2.

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
3.

Keratin transgenic and knockout mice: functional analysis and validation of disease-causing mutations.

Vijayaraj P, Söhl G, Magin TM.

Methods Mol Biol. 2007;360:203-51. Review.

PMID:
17172732
[PubMed - indexed for MEDLINE]
4.

Human keratin diseases: hereditary fragility of specific epithelial tissues.

Corden LD, McLean WH.

Exp Dermatol. 1996 Dec;5(6):297-307. Review.

PMID:
9028791
[PubMed - indexed for MEDLINE]
5.

The molecular genetics of keratin disorders.

Smith F.

Am J Clin Dermatol. 2003;4(5):347-64. Review.

PMID:
12688839
[PubMed - indexed for MEDLINE]
6.

The keratins and their disorders.

Rugg EL, Leigh IM.

Am J Med Genet C Semin Med Genet. 2004 Nov 15;131C(1):4-11. Review.

PMID:
15452838
[PubMed - indexed for MEDLINE]
7.

The molecular basis for inherited bullous diseases.

Korge BP, Krieg T.

J Mol Med (Berl). 1996 Feb;74(2):59-70. Review.

PMID:
8820401
[PubMed - indexed for MEDLINE]
8.

The molecular basis of human keratin disorders.

Arin MJ.

Hum Genet. 2009 May;125(4):355-73. doi: 10.1007/s00439-009-0646-5. Epub 2009 Feb 27. Review.

PMID:
19247691
[PubMed - indexed for MEDLINE]
9.

Chemical chaperones protect epidermolysis bullosa simplex keratinocytes from heat stress-induced keratin aggregation: involvement of heat shock proteins and MAP kinases.

Chamcheu JC, Navsaria H, Pihl-Lundin I, Liovic M, Vahlquist A, Törmä H.

J Invest Dermatol. 2011 Aug;131(8):1684-91. doi: 10.1038/jid.2011.93. Epub 2011 Apr 14.

PMID:
21490615
[PubMed - indexed for MEDLINE]
Free Article
10.

[Keratin diseases].

Jensen PK, Sørensen CB, Andresen BS, Brandrup F, Veien NK, Buus SK, Gregersen N, Bolund L.

Ugeskr Laeger. 2000 Mar 27;162(13):1867-72. Review. Danish.

PMID:
10765692
[PubMed - indexed for MEDLINE]
11.

Genetic approaches to understanding the keratinopathies.

Bale SJ, DiGiovanna JJ.

Adv Dermatol. 1997;12:99-113; discussion 114. Review.

PMID:
8973737
[PubMed - indexed for MEDLINE]
12.

Keratins and their associated skin disorders.

Arin MJ, Mueller FB.

Eur J Dermatol. 2007 Mar-Apr;17(2):123-9. Epub 2007 Mar 2. Review.

PMID:
17337394
[PubMed - indexed for MEDLINE]
13.

Inducible mouse models for inherited skin diseases: implications for skin gene therapy.

Arin MJ, Roop DR.

Cells Tissues Organs. 2004;177(3):160-8.

PMID:
15388990
[PubMed - indexed for MEDLINE]
14.

Complete cytolysis and neonatal lethality in keratin 5 knockout mice reveal its fundamental role in skin integrity and in epidermolysis bullosa simplex.

Peters B, Kirfel J, Büssow H, Vidal M, Magin TM.

Mol Biol Cell. 2001 Jun;12(6):1775-89.

PMID:
11408584
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Progress in epidermolysis bullosa: from eponyms to molecular genetic classification.

Uitto J, Richard G.

Clin Dermatol. 2005 Jan-Feb;23(1):33-40. Review.

PMID:
15708287
[PubMed - indexed for MEDLINE]
16.

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]
Free Article
17.

The ubiquitin ligase CHIP/STUB1 targets mutant keratins for degradation.

Löffek S, Wöll S, Höhfeld J, Leube RE, Has C, Bruckner-Tuderman L, Magin TM.

Hum Mutat. 2010 Apr;31(4):466-76. doi: 10.1002/humu.21222.

PMID:
20151404
[PubMed - indexed for MEDLINE]
18.

Keratins and skin disorders.

Lane EB, McLean WH.

J Pathol. 2004 Nov;204(4):355-66. Review.

PMID:
15495218
[PubMed - indexed for MEDLINE]
19.

How do keratinizing disorders and blistering disorders overlap?

Hamada T, Tsuruta D, Fukuda S, Ishii N, Teye K, Numata S, Dainichi T, Karashima T, Ohata C, Furumura M, Hashimoto T.

Exp Dermatol. 2013 Feb;22(2):83-7. doi: 10.1111/exd.12021. Epub 2012 Oct 8. Review.

PMID:
23039137
[PubMed - indexed for MEDLINE]
Free Article
20.

Temperature sensitivity of the keratin cytoskeleton and delayed spreading of keratinocyte lines derived from EBS patients.

Morley SM, Dundas SR, James JL, Gupta T, Brown RA, Sexton CJ, Navsaria HA, Leigh IM, Lane EB.

J Cell Sci. 1995 Nov;108 ( Pt 11):3463-71.

PMID:
8586658
[PubMed - indexed for MEDLINE]
Free Article

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