-
1
-
-
33344472840
-
Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease
-
Betz R.C., Planko L., Eigelshoven S., Hanneken S., Pasternack S.M., Bussow H., Bogaert K.V., Wenzel J., Braun-Falco M., Rutten A., Rogers M.A., Ruzicka T., Nothen M.M., Magin T.M., and Kruse R. Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease. Am. J. Hum. Genet. 78 (2006) 510-519
-
(2006)
Am. J. Hum. Genet.
, vol.78
, pp. 510-519
-
-
Betz, R.C.1
Planko, L.2
Eigelshoven, S.3
Hanneken, S.4
Pasternack, S.M.5
Bussow, H.6
Bogaert, K.V.7
Wenzel, J.8
Braun-Falco, M.9
Rutten, A.10
Rogers, M.A.11
Ruzicka, T.12
Nothen, M.M.13
Magin, T.M.14
Kruse, R.15
-
2
-
-
4143134431
-
Cytoplasmic intermediate filaments revealed as dynamic and multipurpose scaffolds
-
Coulombe P.A., and Wong P. Cytoplasmic intermediate filaments revealed as dynamic and multipurpose scaffolds. Nat. Cell Biol. 6 (2004) 699-706
-
(2004)
Nat. Cell Biol.
, vol.6
, pp. 699-706
-
-
Coulombe, P.A.1
Wong, P.2
-
3
-
-
0027284965
-
Connexin trafficking and the control of gap junction assembly in mouse preimplantation embryos
-
De Sousa P.A., Valdimarsson G., Nicholson B.J., and Kidder G.M. Connexin trafficking and the control of gap junction assembly in mouse preimplantation embryos. Development 117 (1993) 1355-1367
-
(1993)
Development
, vol.117
, pp. 1355-1367
-
-
De Sousa, P.A.1
Valdimarsson, G.2
Nicholson, B.J.3
Kidder, G.M.4
-
5
-
-
0037439150
-
Genetics of dark skin in mice
-
Fitch K.R., McGowan K.A., van Raamsdonk C.D., Fuchs H., Lee D., Puech A., Herault Y., Threadgill D.W., Hrabe de Angelis M., and Barsh G.S. Genetics of dark skin in mice. Genes Dev. 17 (2003) 214-228
-
(2003)
Genes Dev.
, vol.17
, pp. 214-228
-
-
Fitch, K.R.1
McGowan, K.A.2
van Raamsdonk, C.D.3
Fuchs, H.4
Lee, D.5
Puech, A.6
Herault, Y.7
Threadgill, D.W.8
Hrabe de Angelis, M.9
Barsh, G.S.10
-
6
-
-
1642452817
-
Molecular consequences of deletion of the cytoplasmic domain of bullous pemphigoid 180 in a patient with predominant features of epidermolysis bullosa simplex
-
Fontao L., Tasanen K., Huber M., Hohl D., Koster J., Bruckner-Tuderman L., Sonnenberg A., and Borradori L. Molecular consequences of deletion of the cytoplasmic domain of bullous pemphigoid 180 in a patient with predominant features of epidermolysis bullosa simplex. J. Invest. Dermatol. 122 (2004) 65-72
-
(2004)
J. Invest. Dermatol.
, vol.122
, pp. 65-72
-
-
Fontao, L.1
Tasanen, K.2
Huber, M.3
Hohl, D.4
Koster, J.5
Bruckner-Tuderman, L.6
Sonnenberg, A.7
Borradori, L.8
-
8
-
-
11244320353
-
The nuclear lamina comes of age
-
Gruenbaum Y., Margalit A., Goldman R.D., Shumaker D.K., and Wilson K.L. The nuclear lamina comes of age. Nat. Rev. Mol. Cell Biol. 6 (2005) 21-31
-
(2005)
Nat. Rev. Mol. Cell Biol.
, vol.6
, pp. 21-31
-
-
Gruenbaum, Y.1
Margalit, A.2
Goldman, R.D.3
Shumaker, D.K.4
Wilson, K.L.5
-
9
-
-
1642503683
-
Intermediate filaments are dynamic and motile elements of cellular architecture
-
Helfand B.T., Chang L., and Goldman R.D. Intermediate filaments are dynamic and motile elements of cellular architecture. J. Cell Sci. 117 (2004) 133-141
-
(2004)
J. Cell Sci.
, vol.117
, pp. 133-141
-
-
Helfand, B.T.1
Chang, L.2
Goldman, R.D.3
-
10
-
-
3943078618
-
Intermediate filaments: molecular structure, assembly mechanism, and integration into functionally distinct intracellular scaffolds
-
Herrmann H., and Aebi U. Intermediate filaments: molecular structure, assembly mechanism, and integration into functionally distinct intracellular scaffolds. Annu. Rev. Biochem. 73 (2004) 749-789
-
(2004)
Annu. Rev. Biochem.
, vol.73
, pp. 749-789
-
-
Herrmann, H.1
Aebi, U.2
-
11
-
-
0034907507
-
Genes for intermediate filament proteins and the draft sequence of the human genome: novel keratin genes and a surprisingly high number of pseudogenes related to keratin genes 8 and 18
-
Hesse M., Magin T.M., and Weber K. Genes for intermediate filament proteins and the draft sequence of the human genome: novel keratin genes and a surprisingly high number of pseudogenes related to keratin genes 8 and 18. J. Cell Sci. 114 (2001) 2569-2575
-
(2001)
J. Cell Sci.
, vol.114
, pp. 2569-2575
-
-
Hesse, M.1
Magin, T.M.2
Weber, K.3
-
12
-
-
1842471992
-
Comprehensive analysis of keratin gene clusters in humans and rodents
-
Hesse M., Zimek A., Weber K., and Magin T.M. Comprehensive analysis of keratin gene clusters in humans and rodents. Eur. J. Cell Biol. 83 (2004) 19-26
-
(2004)
Eur. J. Cell Biol.
, vol.83
, pp. 19-26
-
-
Hesse, M.1
Zimek, A.2
Weber, K.3
Magin, T.M.4
-
13
-
-
0031434675
-
A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara
-
Irvine A.D., McKenna K.E., Bingham A., Nevin N.C., and Hughes A.E. A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara. J. Invest. Dermatol. 109 (1997) 815-816
-
(1997)
J. Invest. Dermatol.
, vol.109
, pp. 815-816
-
-
Irvine, A.D.1
McKenna, K.E.2
Bingham, A.3
Nevin, N.C.4
Hughes, A.E.5
-
14
-
-
0028556413
-
A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma
-
Kimonis V., DiGiovanna J.J., Yang J.M., Doyle S.Z., Bale S.J., and Compton J.G. A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma. J. Invest. Dermatol. 103 (1994) 764-769
-
(1994)
J. Invest. Dermatol.
, vol.103
, pp. 764-769
-
-
Kimonis, V.1
DiGiovanna, J.J.2
Yang, J.M.3
Doyle, S.Z.4
Bale, S.J.5
Compton, J.G.6
-
15
-
-
0027987929
-
Making a connection: direct binding between keratin intermediate filaments and desmosomal proteins
-
Kouklis P.D., Hutton E., and Fuchs E. Making a connection: direct binding between keratin intermediate filaments and desmosomal proteins. J. Cell Biol. 127 (1994) 1049-1060
-
(1994)
J. Cell Biol.
, vol.127
, pp. 1049-1060
-
-
Kouklis, P.D.1
Hutton, E.2
Fuchs, E.3
-
16
-
-
33846199201
-
A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease
-
Liao H., Zhao Y., Baty D.U., McGrath J.A., Mellerio J.E., and McLean W.H. A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease. J. Invest. Dermatol. 127 (2007) 298-300
-
(2007)
J. Invest. Dermatol.
, vol.127
, pp. 298-300
-
-
Liao, H.1
Zhao, Y.2
Baty, D.U.3
McGrath, J.A.4
Mellerio, J.E.5
McLean, W.H.6
-
17
-
-
0028931927
-
The 70-kDa heat shock proteins associate with glandular intermediate filaments in an ATP-dependent manner
-
Liao J., Lowthert L.A., Ghori N., and Omary M.B. The 70-kDa heat shock proteins associate with glandular intermediate filaments in an ATP-dependent manner. J. Biol. Chem. 270 (1995) 915-922
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 915-922
-
-
Liao, J.1
Lowthert, L.A.2
Ghori, N.3
Omary, M.B.4
-
18
-
-
0034473050
-
Properties of the nonhelical end domains of vimentin suggest a role in maintaining intermediate filament network structure
-
Lowrie Jr. D.J., Stickney J.T., and Ip W. Properties of the nonhelical end domains of vimentin suggest a role in maintaining intermediate filament network structure. J. Struct. Biol. 132 (2000) 83-94
-
(2000)
J. Struct. Biol.
, vol.132
, pp. 83-94
-
-
Lowrie Jr., D.J.1
Stickney, J.T.2
Ip, W.3
-
19
-
-
6344280832
-
Emerging functions: diseases and animal models reshape our view of the cytoskeleton
-
Magin T.M., Reichelt J., and Hatzfeld M. Emerging functions: diseases and animal models reshape our view of the cytoskeleton. Exp. Cell Res. 301 (2004) 91-102
-
(2004)
Exp. Cell Res.
, vol.301
, pp. 91-102
-
-
Magin, T.M.1
Reichelt, J.2
Hatzfeld, M.3
-
20
-
-
34249723830
-
-
Magin, T.M., Vijayaraj, P., Leube, R., 2007. Structural and regulatory functions of keratins. Exp. Cell Res., in press.
-
-
-
-
21
-
-
33646134404
-
A mouse keratin 1 mutation causes dark skin and epidermolytic hyperkeratosis
-
McGowan K.A., Aradhya S., Fuchs H., de Angelis M.H., and Barsh G.S. A mouse keratin 1 mutation causes dark skin and epidermolytic hyperkeratosis. J. Invest. Dermatol. 126 (2006) 1013-1016
-
(2006)
J. Invest. Dermatol.
, vol.126
, pp. 1013-1016
-
-
McGowan, K.A.1
Aradhya, S.2
Fuchs, H.3
de Angelis, M.H.4
Barsh, G.S.5
-
22
-
-
0036629336
-
Hyperproliferation, induction of c-Myc and 14-3-3sigma, but no cell fragility in keratin-10-null mice
-
Reichelt J., and Magin T.M. Hyperproliferation, induction of c-Myc and 14-3-3sigma, but no cell fragility in keratin-10-null mice. J. Cell Sci. 115 (2002) 2639-2650
-
(2002)
J. Cell Sci.
, vol.115
, pp. 2639-2650
-
-
Reichelt, J.1
Magin, T.M.2
-
23
-
-
0032100705
-
Defining the interactions between intermediate filaments and desmosomes
-
Smith E.A., and Fuchs E. Defining the interactions between intermediate filaments and desmosomes. J. Cell Biol. 141 (1998) 1229-1241
-
(1998)
J. Cell Biol.
, vol.141
, pp. 1229-1241
-
-
Smith, E.A.1
Fuchs, E.2
-
24
-
-
0028808230
-
Role of auxilin in uncoating clathrin-coated vesicles
-
Ungewickell E., Ungewickell H., Holstein S.E., Lindner R., Prasad K., Barouch W., Martin B., Greene L.E., and Eisenberg E. Role of auxilin in uncoating clathrin-coated vesicles. Nature 378 (1995) 632-635
-
(1995)
Nature
, vol.378
, pp. 632-635
-
-
Ungewickell, E.1
Ungewickell, H.2
Holstein, S.E.3
Lindner, R.4
Prasad, K.5
Barouch, W.6
Martin, B.7
Greene, L.E.8
Eisenberg, E.9
-
25
-
-
0029810901
-
The genetic basis of epidermolysis bullosa simplex with mottled pigmentation
-
Uttam J., Hutton E., Coulombe P.A., Anton-Lamprecht I., Yu Q.C., Gedde-Dahl Jr. T., Fine J.D., and Fuchs E. The genetic basis of epidermolysis bullosa simplex with mottled pigmentation. Proc. Natl. Acad. Sci. USA 93 (1996) 9079-9084
-
(1996)
Proc. Natl. Acad. Sci. USA
, vol.93
, pp. 9079-9084
-
-
Uttam, J.1
Hutton, E.2
Coulombe, P.A.3
Anton-Lamprecht, I.4
Yu, Q.C.5
Gedde-Dahl Jr., T.6
Fine, J.D.7
Fuchs, E.8
-
26
-
-
1542283819
-
Epidermolysis bullosa simplex-type mutations alter the dynamics of the keratin cytoskeleton and reveal a contribution of actin to the transport of keratin subunits
-
Werner N.S., Windoffer R., Strnad P., Grund C., Leube R.E., and Magin T.M. Epidermolysis bullosa simplex-type mutations alter the dynamics of the keratin cytoskeleton and reveal a contribution of actin to the transport of keratin subunits. Mol. Biol. Cell 15 (2004) 990-1002
-
(2004)
Mol. Biol. Cell
, vol.15
, pp. 990-1002
-
-
Werner, N.S.1
Windoffer, R.2
Strnad, P.3
Grund, C.4
Leube, R.E.5
Magin, T.M.6
-
27
-
-
2342481180
-
Identification of novel principles of keratin filament network turnover in living cells
-
Windoffer R., Woll S., Strnad P., and Leube R.E. Identification of novel principles of keratin filament network turnover in living cells. Mol. Biol. Cell 15 (2004) 2436-2448
-
(2004)
Mol. Biol. Cell
, vol.15
, pp. 2436-2448
-
-
Windoffer, R.1
Woll, S.2
Strnad, P.3
Leube, R.E.4
-
28
-
-
33646433420
-
Focal adhesions are hotspots for keratin filament precursor formation
-
Windoffer R., Kolsch A., Woll S., and Leube R.E. Focal adhesions are hotspots for keratin filament precursor formation. J. Cell Biol. 173 (2006) 341-348
-
(2006)
J. Cell Biol.
, vol.173
, pp. 341-348
-
-
Windoffer, R.1
Kolsch, A.2
Woll, S.3
Leube, R.E.4
-
29
-
-
14844340023
-
Dissection of keratin dynamics: different contributions of the actin and microtubule systems
-
Woll S., Windoffer R., and Leube R.E. Dissection of keratin dynamics: different contributions of the actin and microtubule systems. Eur. J. Cell Biol. 84 (2005) 311-328
-
(2005)
Eur. J. Cell Biol.
, vol.84
, pp. 311-328
-
-
Woll, S.1
Windoffer, R.2
Leube, R.E.3
-
30
-
-
33745608086
-
Dissection of Swa2p/auxilin domain requirements for cochaperoning Hsp70 clathrin-uncoating activity in vivo
-
Xiao J., Kim L.S., and Graham T.R. Dissection of Swa2p/auxilin domain requirements for cochaperoning Hsp70 clathrin-uncoating activity in vivo. Mol. Biol. Cell 17 (2006) 3281-3290
-
(2006)
Mol. Biol. Cell
, vol.17
, pp. 3281-3290
-
-
Xiao, J.1
Kim, L.S.2
Graham, T.R.3
|