-
1
-
-
79952682059
-
Keratin gene mutations in disorders of human skin and its appendages
-
Chamcheu JC, Siddiqui IA, Syed DN, Adhami VM, Liovic M, Mukhtar H (2011) Keratin gene mutations in disorders of human skin and its appendages. Arch Biochem Biophys 508:123-37
-
(2011)
Arch Biochem Biophys
, vol.508
, pp. 123-137
-
-
Chamcheu, J.C.1
Siddiqui, I.A.2
Syed, D.N.3
Adhami, V.M.4
Liovic, M.5
Mukhtar, H.6
-
2
-
-
0028283501
-
Intermediate filaments: Structure, dynamics, function, and disease
-
Fuchs E, Weber K (1994) Intermediate filaments: structure, dynamics, function, and disease. Ann Rev Biochem 63:345-82
-
(1994)
Ann Rev Biochem
, vol.63
, pp. 345-382
-
-
Fuchs, E.1
Weber, K.2
-
3
-
-
80052070571
-
APOE and Alzheimer disease: A major gene with semi-dominant inheritance
-
Genin E, Hannequin D, Wallon D et al. (2011) APOE and Alzheimer disease: a major gene with semi-dominant inheritance. Mol Psychiatr 16:903-7
-
(2011)
Mol Psychiatr
, vol.16
, pp. 903-907
-
-
Genin, E.1
Hannequin, D.2
Wallon, D.3
-
4
-
-
0034086705
-
Monilethrix: Mutational hotspot in the helix termination motif of the human hair basic keratin 6
-
Horev L, Glaser B, Metzker A, Ben-Amitai D, Vardy D, Zlotogorski A (2000) Monilethrix: mutational hotspot in the helix termination motif of the human hair basic keratin 6. Hum Hered 50:325-30 (Pubitemid 30416005)
-
(2000)
Human Heredity
, vol.50
, Issue.5
, pp. 325-330
-
-
Horev, L.1
Glaser, B.2
Metzker, A.3
Ben-Amitai, D.4
Vardy, D.5
Zlotogorski, A.6
-
5
-
-
0030848825
-
Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex - Increased severity of disease in a homozygote
-
Hu ZL, Smith L, Martins S, Bonifas JM, Chen H, Epstein EH Jr (1997) Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex-increased severity of disease in a homozygote. J Invest Dermatol 109:360-4 (Pubitemid 27394652)
-
(1997)
Journal of Investigative Dermatology
, vol.109
, Issue.3
, pp. 360-364
-
-
Hu, Z.1
Smith, L.2
Martins, S.3
Bonifas, J.M.4
Chen, H.5
Epstein Jr., E.H.6
-
7
-
-
38049121166
-
The filaggrin story: Novel insights into skin-barrier function and disease
-
McGrath JA, Uitto J (2008) The filaggrin story: novel insights into skin-barrier function and disease. Trends Mol Med 14:20-7
-
(2008)
Trends Mol Med
, vol.14
, pp. 20-27
-
-
McGrath, J.A.1
Uitto, J.2
-
8
-
-
83155181586
-
Keratin disorders: From gene to therapy
-
McLean WH, Moore CB (2011) Keratin disorders: from gene to therapy. Hum Mol Genet 20:R189-97
-
(2011)
Hum Mol Genet
, vol.20
-
-
McLean, W.H.1
Moore, C.B.2
-
9
-
-
33645115691
-
A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis
-
Muller FB, Huber M, Kinaciyan T et al. (2006) A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis. Hum Mol Genet 15:1133-41
-
(2006)
Hum Mol Genet
, vol.15
, pp. 1133-1141
-
-
Muller, F.B.1
Huber, M.2
Kinaciyan, T.3
-
10
-
-
78650677545
-
Gene dosage effect of p.Glu170Lys mutation in the KRT5 gene in a Polish family with epidermolysis bullosa simplex
-
Oldak M, Szczecinska W, Przybylska D et al. (2011) Gene dosage effect of p.Glu170Lys mutation in the KRT5 gene in a Polish family with epidermolysis bullosa simplex. J Dermatol Sci 61:64-7
-
(2011)
J Dermatol Sci
, vol.61
, pp. 64-67
-
-
Oldak, M.1
Szczecinska, W.2
Przybylska, D.3
-
11
-
-
0035875085
-
OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance
-
Pesch UE, Leo-Kottler B, Mayer S et al. (2001) OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance. Hum Mol Genet 10:1359-68 (Pubitemid 32640664)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.13
, pp. 1359-1368
-
-
Pesch, U.E.A.1
Leo-Kottler, B.2
Mayer, S.3
Jurklies, B.4
Kellner, U.5
Apfelstedt-Sylla, E.6
Zrenner, E.7
Alexander, C.8
Wissinger, B.9
-
12
-
-
0037407006
-
Phenotypes, genotypes and their contribution to understanding keratin function
-
DOI 10.1016/S0168-9525(03)00071-4
-
Porter RM, Lane EB (2003) Phenotypes, genotypes and their contribution to understanding keratin function. Trends Genet 19:278-85 (Pubitemid 36507010)
-
(2003)
Trends in Genetics
, vol.19
, Issue.5
, pp. 278-285
-
-
Porter, R.M.1
Lane, E.B.2
-
13
-
-
33644622891
-
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris
-
Smith FJ, Irvine AD, Terron-Kwiatkowski A et al. (2006) Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet 38:337-42
-
(2006)
Nat Genet
, vol.38
, pp. 337-342
-
-
Smith, F.J.1
Irvine, A.D.2
Terron-Kwiatkowski, A.3
-
15
-
-
13244259262
-
Epidermolytic hyperkeratosis type PS-1 caused by aberrant splicing of KRT1
-
DOI 10.1111/j.1365-2230.2004.01661.x
-
Tal O, Bergman R, Alcalay J, Indelman M, Sprecher E (2005) Epidermolytic hyperkeratosis type PS-1 caused by aberrant splicing of KRT1. Clin Exp Dermatol 30: 64-7 (Pubitemid 40188322)
-
(2005)
Clinical and Experimental Dermatology
, vol.30
, Issue.1
, pp. 64-67
-
-
Tal, O.1
Bergman, R.2
Alcalay, J.3
Indelman, M.4
Sprecher, E.5
-
17
-
-
75549091026
-
Keratin K6c mutations cause focal palmoplantar keratoderma
-
Wilson NJ, Messenger AG, Leachman SA et al. (2011) Keratin K6c mutations cause focal palmoplantar keratoderma. J Invest Dermatol 130:425-9
-
(2011)
J Invest Dermatol
, vol.130
, pp. 425-429
-
-
Wilson, N.J.1
Messenger, A.G.2
Leachman, S.A.3
-
18
-
-
84862335987
-
Homozygous dominant missense mutation in keratin 17 leads to alopecia in addition to severe pachyonychia congenita
-
Wilson NJ, Perez ML, Vahlquist A et al. (2012) Homozygous dominant missense mutation in keratin 17 leads to alopecia in addition to severe pachyonychia congenita. J Invest Dermatol 132:1921-4
-
(2012)
J Invest Dermatol
, vol.132
, pp. 1921-1924
-
-
Wilson, N.J.1
Perez, M.L.2
Vahlquist, A.3
-
19
-
-
0029813708
-
A novel H1 mutation in the keratin 1 chain in epidermolytic hyperkeratosis
-
Yang JM, Nam K, Park KB et al. (1996) A novel H1 mutation in the keratin 1 chain in epidermolytic hyperkeratosis. J Invest Dermatol 107:439-41 (Pubitemid 26284356)
-
(1996)
Journal of Investigative Dermatology
, vol.107
, Issue.3
, pp. 439-441
-
-
Yang, J.-M.1
Nam, K.2
Park, K.-B.3
Kim, W.-S.4
Moon, K.-C.5
Koh, J.K.6
Steinert, P.M.7
Lee, E.-S.8
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