-
1
-
-
33746377894
-
Protein misfolding, functional amyloid, and human disease
-
Chiti, F., and Dobson, C. M. (2006) Protein misfolding, functional amyloid, and human disease. Annu. Rev. Biochem. 75, 333-366
-
(2006)
Annu. Rev. Biochem.
, vol.75
, pp. 333-366
-
-
Chiti, F.1
Dobson, C.M.2
-
2
-
-
10644225416
-
Protein misfolding and aggregation: New examples in medicine and biology of the dark side of the protein world
-
Stefani, M. (2004) Protein misfolding and aggregation: new examples in medicine and biology of the dark side of the protein world. Biochim. Biophys. Acta 1739, 5-25
-
(2004)
Biochim. Biophys. Acta
, vol.1739
, pp. 5-25
-
-
Stefani, M.1
-
3
-
-
1542301571
-
Diseases of protein conformation: What do in vitro experiments tell us about in vivo diseases?
-
Buxbaum, J. N. (2003) Diseases of protein conformation: what do in vitro experiments tell us about in vivo diseases? Trends Biochem. Sci. 28, 585-592
-
(2003)
Trends Biochem. Sci.
, vol.28
, pp. 585-592
-
-
Buxbaum, J.N.1
-
4
-
-
3343003514
-
Techniques to study amyloid fibril formation in vitro
-
DOI 10.1016/j.ymeth.2004.03.012, PII S104620230400060X
-
Nilsson, M. R. (2004) Techniques to study amyloid fibril formation in vitro. Methods 34, 151-160 (Pubitemid 38993215)
-
(2004)
Methods
, vol.34
, Issue.1
, pp. 151-160
-
-
Nilsson, M.R.1
-
5
-
-
0016337743
-
Hereditary hypotrichosis simplex of the scalp. Evidence for autosomal dominant inheritance
-
Toribio, J., and Quinones, P. A. (1974) Hereditary hypotrichosis simplex of the scalp. Evidence for autosomal dominant inheritance. Br. J. Dermatol. 91, 687-696
-
(1974)
Br. J. Dermatol.
, vol.91
, pp. 687-696
-
-
Toribio, J.1
Quinones, P.A.2
-
6
-
-
0023250492
-
Hereditary hypotrichosis simplex of the scalp
-
Kohn, G., and Metzker, A. (1987) Hereditary hypotrichosis simplex of the scalp. Clin. Genet. 32, 120-124
-
(1987)
Clin. Genet.
, vol.32
, pp. 120-124
-
-
Kohn, G.1
Metzker, A.2
-
7
-
-
28844454237
-
A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp
-
Davalos, N. O., Garcia-Vargas, A., Pforr, J., Davalos, I. P., Picos-Cardenas, V. J., Garcia-Cruz, D., Kruse, R., Figuera, L. E., Nothen, M. M., and Betz, R. C. (2005) A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp. Br. J. Dermatol. 153, 1216-1219
-
(2005)
Br. J. Dermatol.
, vol.153
, pp. 1216-1219
-
-
Davalos, N.O.1
Garcia-Vargas, A.2
Pforr, J.3
Davalos, I.P.4
Picos-Cardenas, V.J.5
Garcia-Cruz, D.6
Kruse, R.7
Figuera, L.E.8
Nothen, M.M.9
Betz, R.C.10
-
8
-
-
0037941582
-
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin
-
Levy-Nissenbaum, E., Betz, R. C., Frydman, M., Simon, M., Lahat, H., Bakhan, T., Goldman, B., Bygum, A., Pierick, M., Hillmer, A. M., Jonca, N., Toribio, J., Kruse, R., Dewald, G., Cichon, S., Kubisch, C., Guerrin, M., Serre, G., Nothen, M. M., and Pras, E. (2003) Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. Nat. Genet. 34, 151-153
-
(2003)
Nat. Genet.
, vol.34
, pp. 151-153
-
-
Levy-Nissenbaum, E.1
Betz, R.C.2
Frydman, M.3
Simon, M.4
Lahat, H.5
Bakhan, T.6
Goldman, B.7
Bygum, A.8
Pierick, M.9
Hillmer, A.M.10
Jonca, N.11
Toribio, J.12
Kruse, R.13
Dewald, G.14
Cichon, S.15
Kubisch, C.16
Guerrin, M.17
Serre, G.18
Nothen, M.M.19
Pras, E.20
more..
-
9
-
-
0026052977
-
Identification of late differentiation antigens of human cornified epithelia, expressed in re-organized desmosomes and bound to cross-linked envelope
-
Serre, G., Mils, V., Haftek, M., Vincent, C., Croute, F., Reano, A., Ouhayoun, J. P., Bettinger, S., and Soleilhavoup, J. P. (1991) Identification of late differentiation antigens of human cornified epithelia, expressed in re-organized desmosomes and bound to cross-linked envelope. J. Invest. Dermatol. 97, 1061-1072
-
(1991)
J. Invest. Dermatol.
, vol.97
, pp. 1061-1072
-
-
Serre, G.1
Mils, V.2
Haftek, M.3
Vincent, C.4
Croute, F.5
Reano, A.6
Ouhayoun, J.P.7
Bettinger, S.8
Soleilhavoup, J.P.9
-
10
-
-
0031465982
-
Characterization and purification of human corneodesmosin, an epidermal basic glycoprotein associated with corneocyte-specific modified desmosomes
-
Simon, M., Montezin, M., Guerrin, M., Durieux, J. J., and Serre, G. (1997) Characterization and purification of human corneodesmosin, an epidermal basic glycoprotein associated with corneocyte-specific modified desmosomes. J. Biol. Chem. 272, 31770-31776
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 31770-31776
-
-
Simon, M.1
Montezin, M.2
Guerrin, M.3
Durieux, J.J.4
Serre, G.5
-
11
-
-
0037085257
-
Corneodesmosin, a component of epidermal corneocyte desmosomes, displays homophilic adhesive properties
-
Jonca, N., Guerrin, M., Hadjiolova, K., Caubet, C., Gallinaro, H., Simon, M., and Serre, G. (2002) Corneodesmosin, a component of epidermal corneocyte desmosomes, displays homophilic adhesive properties. J. Biol. Chem. 277, 5024-5029
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 5024-5029
-
-
Jonca, N.1
Guerrin, M.2
Hadjiolova, K.3
Caubet, C.4
Gallinaro, H.5
Simon, M.6
Serre, G.7
-
12
-
-
1842639311
-
Homo-oligomerization of human corneodesmosin is mediated by its N-terminal glycine loop domain
-
Caubet, C., Jonca, N., Lopez, F., Esteve, J. P., Simon, M., and Serre, G. (2004) Homo-oligomerization of human corneodesmosin is mediated by its N-terminal glycine loop domain. J. Invest. Dermatol. 122, 747-754
-
(2004)
J. Invest. Dermatol.
, vol.122
, pp. 747-754
-
-
Caubet, C.1
Jonca, N.2
Lopez, F.3
Esteve, J.P.4
Simon, M.5
Serre, G.6
-
13
-
-
38749092254
-
Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis
-
Arita, K., South, A. P., Hans-Filho, G., Sakuma, T. H., Lai- Cheong, J., Clements, S., Odashiro, M., Odashiro, D. N., Hans- Neto, G., Hans, N. R., Holder, M. V., Bhogal, B. S., Hartshorne, S. T., Akiyama, M., Shimizu, H., and McGrath, J. A. (2008) Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis. Am. J. Hum. Genet. 82, 73-80
-
(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 73-80
-
-
Arita, K.1
South, A.P.2
Hans-Filho, G.3
Sakuma, T.H.4
Lai- Cheong, J.5
Clements, S.6
Odashiro, M.7
Odashiro, D.N.8
Hans- Neto, G.9
Hans, N.R.10
Holder, M.V.11
Bhogal, B.S.12
Hartshorne, S.T.13
Akiyama, M.14
Shimizu, H.15
McGrath, J.A.16
-
14
-
-
0020692184
-
Amyloidogenesis in organ-limited cutaneous amyloidosis: An antigenic identity between epidermal keratin and skin amyloid
-
Kobayashi, H., and Hashimoto, K. (1983) Amyloidogenesis in organ-limited cutaneous amyloidosis: an antigenic identity between epidermal keratin and skin amyloid. J. Invest. Dermatol. 80, 66-72
-
(1983)
J. Invest. Dermatol.
, vol.80
, pp. 66-72
-
-
Kobayashi, H.1
Hashimoto, K.2
-
15
-
-
2442436900
-
Cytokeratin expression in lichen amyloidosus and macular amyloidosis
-
Apaydin, R., Gurbuz, Y., Bayramgurler, D., Muezzinoglu, B., and Bilen, N. (2004) Cytokeratin expression in lichen amyloidosus and macular amyloidosis. J. Eur. Acad. Dermatol. Venereol. 18, 305-309
-
(2004)
J. Eur. Acad. Dermatol. Venereol.
, vol.18
, pp. 305-309
-
-
Apaydin, R.1
Gurbuz, Y.2
Bayramgurler, D.3
Muezzinoglu, B.4
Bilen, N.5
-
16
-
-
3543079187
-
A study of cytokeratin profiles in localized cutaneous amyloids
-
Chang, Y. T., Liu, H. N., Wang, W. J., Lee, D. D., and Tsai, S. F. (2004) A study of cytokeratin profiles in localized cutaneous amyloids. Arch. Dermatol. Res. 296, 83-88
-
(2004)
Arch. Dermatol. Res.
, vol.296
, pp. 83-88
-
-
Chang, Y.T.1
Liu, H.N.2
Wang, W.J.3
Lee, D.D.4
Tsai, S.F.5
-
17
-
-
0019418811
-
Amyloid in localized cutaneous amyloidosis: Immunofluorescence studies with anti-keratin antiserum especially concerning the difference between systemic and localized cutaneous amyloidosis
-
Masu, S., Hosokawa, M., and Seiji, M. (1981) Amyloid in localized cutaneous amyloidosis: immunofluorescence studies with anti-keratin antiserum especially concerning the difference between systemic and localized cutaneous amyloidosis. Acta Derm. Venereol. 61, 381-384
-
(1981)
Acta Derm. Venereol.
, vol.61
, pp. 381-384
-
-
Masu, S.1
Hosokawa, M.2
Seiji, M.3
-
18
-
-
0035827559
-
Refined characterization of corneodesmosin proteolysis during terminal differentiation of human epidermis and its relationship to desquamation
-
Simon, M., Jonca, N., Guerrin, M., Haftek, M., Bernard, D., Caubet, C., Egelrud, T., Schmidt, R., and Serre, G. (2001) Refined characterization of corneodesmosin proteolysis during terminal differentiation of human epidermis and its relationship to desquamation. J. Biol. Chem. 276, 20292-20299
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 20292-20299
-
-
Simon, M.1
Jonca, N.2
Guerrin, M.3
Haftek, M.4
Bernard, D.5
Caubet, C.6
Egelrud, T.7
Schmidt, R.8
Serre, G.9
-
19
-
-
0032575563
-
Expression cloning of human corneodesmosin proves its identity with the product of the S gene and allows improved characterization of its processing during keratinocyte differentiation
-
Guerrin, M., Simon, M., Montezin, M., Haftek, M., Vincent, C., and Serre, G. (1998) Expression cloning of human corneodesmosin proves its identity with the product of the S gene and allows improved characterization of its processing during keratinocyte differentiation. J. Biol. Chem. 273, 22640-22647
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 22640-22647
-
-
Guerrin, M.1
Simon, M.2
Montezin, M.3
Haftek, M.4
Vincent, C.5
Serre, G.6
-
20
-
-
0037208811
-
Maltose-binding protein as a solubility enhancer
-
Fox, J. D., and Waugh, D. S. (2003) Maltose-binding protein as a solubility enhancer. Methods Mol. Biol. 205, 99-117
-
(2003)
Methods Mol. Biol.
, vol.205
, pp. 99-117
-
-
Fox, J.D.1
Waugh, D.S.2
-
21
-
-
0003076963
-
Recent changes to the MOSFLM package for processing film and image plate data
-
Leslie, A. G. W. (1992) Recent changes to the MOSFLM package for processing film and image plate data. Joint CCP4 + ESF-EAMCB Newsletter Protein Crystallography, 26, 27-33
-
(1992)
Joint CCP4 + ESF-EAMCB Newsletter Protein Crystallography
, vol.26
, pp. 27-33
-
-
Leslie, A.G.W.1
-
22
-
-
0037130174
-
Neurodegenerative disease: Amyloid pores from pathogenic mutations
-
Lashuel, H. A., Hartley, D., Petre, B. M., Walz, T., and Lansbury, P. T., Jr. (2002) Neurodegenerative disease: amyloid pores from pathogenic mutations. Nature 418, 291
-
(2002)
Nature
, vol.418
, pp. 291
-
-
Lashuel, H.A.1
Hartley, D.2
Petre, B.M.3
Walz, T.4
Lansbury Jr., P.T.5
-
23
-
-
0037041420
-
Inherent toxicity of aggregates implies a common mechanism for protein misfolding diseases
-
Bucciantini, M., Giannoni, E., Chiti, F., Baroni, F., Formigli, L., Zurdo, J., Taddei, N., Ramponi, G., Dobson, C. M., and Stefani, M. (2002) Inherent toxicity of aggregates implies a common mechanism for protein misfolding diseases. Nature 416, 507-511
-
(2002)
Nature
, vol.416
, pp. 507-511
-
-
Bucciantini, M.1
Giannoni, E.2
Chiti, F.3
Baroni, F.4
Formigli, L.5
Zurdo, J.6
Taddei, N.7
Ramponi, G.8
Dobson, C.M.9
Stefani, M.10
-
24
-
-
0242668337
-
Common structure of soluble amyloid oligomers implies common mechanism of pathogenesis
-
Kayed, R., Head, E., Thompson, J. L., McIntire, T. M., Milton, S. C., Cotman, C. W., and Glabe, C. G. (2003) Common structure of soluble amyloid oligomers implies common mechanism of pathogenesis. Science 300, 486-489
-
(2003)
Science
, vol.300
, pp. 486-489
-
-
Kayed, R.1
Head, E.2
Thompson, J.L.3
McIntire, T.M.4
Milton, S.C.5
Cotman, C.W.6
Glabe, C.G.7
-
25
-
-
1542358787
-
Prediction and functional analysis of native disorder in proteins from the three kingdoms of life
-
Ward, J. J., Sodhi, J. S., McGuffin, L. J., Buxton, B. F., and Jones, D. T. (2004) Prediction and functional analysis of native disorder in proteins from the three kingdoms of life. J. Mol. Biol. 337, 635-645
-
(2004)
J. Mol. Biol.
, vol.337
, pp. 635-645
-
-
Ward, J.J.1
Sodhi, J.S.2
McGuffin, L.J.3
Buxton, B.F.4
Jones, D.T.5
-
26
-
-
24044538903
-
IUPred: Web server for the prediction of intrinsically unstructured regions of proteins based on estimated energy content
-
Dosztanyi, Z., Csizmok, V., Tompa, P., and Simon, I. (2005) IUPred: web server for the prediction of intrinsically unstructured regions of proteins based on estimated energy content. Bioinformatics 21, 3433-3434
-
(2005)
Bioinformatics
, vol.21
, pp. 3433-3434
-
-
Dosztanyi, Z.1
Csizmok, V.2
Tompa, P.3
Simon, I.4
-
27
-
-
0035188314
-
Sequence complexity of disordered protein
-
Romero, P., Obradovic, Z., Li, X., Garner, E. C., Brown, C. J., and Dunker, A. K. (2001) Sequence complexity of disordered protein. Proteins 42, 38-48
-
(2001)
Proteins
, vol.42
, pp. 38-48
-
-
Romero, P.1
Obradovic, Z.2
Li, X.3
Garner, E.C.4
Brown, C.J.5
Dunker, A.K.6
-
28
-
-
0036119524
-
Progressive generalized alopecia due to systemic amyloidosis
-
Lutz, M. E., and Pittelkow, M. R. (2002) Progressive generalized alopecia due to systemic amyloidosis. J. Am. Acad. Dermatol. 46, 434-436
-
(2002)
J. Am. Acad. Dermatol.
, vol.46
, pp. 434-436
-
-
Lutz, M.E.1
Pittelkow, M.R.2
-
29
-
-
2142762962
-
Structural characterization of the fibrillar form of the yeast Saccharomyces cerevisiae prion Ure2p
-
Bousset, L., Redeker, V., Decottignies, P., Dubois, S., Le Marechal, P., and Melki, R. (2004) Structural characterization of the fibrillar form of the yeast Saccharomyces cerevisiae prion Ure2p. Biochemistry 43, 5022-5032
-
(2004)
Biochemistry
, vol.43
, pp. 5022-5032
-
-
Bousset, L.1
Redeker, V.2
Decottignies, P.3
Dubois, S.4
Le Marechal, P.5
Melki, R.6
-
30
-
-
0035933721
-
Is Congo red an amyloid-specific dye?
-
Khurana, R., Uversky, V. N., Nielsen, L., and Fink, A. L. (2001) Is Congo red an amyloid-specific dye? J. Biol. Chem. 276, 22715-22721
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 22715-22721
-
-
Khurana, R.1
Uversky, V.N.2
Nielsen, L.3
Fink, A.L.4
-
31
-
-
0036708168
-
Paradigm shifts in Alzheimer's disease and other neurodegenerative disorders: The emerging role of oligomeric assemblies
-
Kirkitadze, M. D., Bitan, G., and Teplow, D. B. (2002) Paradigm shifts in Alzheimer's disease and other neurodegenerative disorders: the emerging role of oligomeric assemblies. J. Neurosci. Res. 69, 567-577
-
(2002)
J. Neurosci. Res.
, vol.69
, pp. 567-577
-
-
Kirkitadze, M.D.1
Bitan, G.2
Teplow, D.B.3
-
32
-
-
3843148352
-
Prefibrillar amyloid protein aggregates share common features of cytotoxicity
-
Bucciantini, M., Calloni, G., Chiti, F., Formigli, L., Nosi, D., Dobson, C. M., and Stefani, M. (2004) Prefibrillar amyloid protein aggregates share common features of cytotoxicity. J. Biol. Chem. 279, 31374-31382
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 31374-31382
-
-
Bucciantini, M.1
Calloni, G.2
Chiti, F.3
Formigli, L.4
Nosi, D.5
Dobson, C.M.6
Stefani, M.7
-
33
-
-
33748210163
-
Prefibrillar amyloid aggregates could be generic toxins in higher organisms
-
Baglioni, S., Casamenti, F., Bucciantini, M., Luheshi, L. M., Taddei, N., Chiti, F., Dobson, C. M., and Stefani, M. (2006) Prefibrillar amyloid aggregates could be generic toxins in higher organisms. J. Neurosci. 26, 8160-8167
-
(2006)
J. Neurosci.
, vol.26
, pp. 8160-8167
-
-
Baglioni, S.1
Casamenti, F.2
Bucciantini, M.3
Luheshi, L.M.4
Taddei, N.5
Chiti, F.6
Dobson, C.M.7
Stefani, M.8
-
34
-
-
0035826234
-
Amyloid fibrils from muscle myoglobin
-
Fandrich, M., Fletcher, M. A., and Dobson, C. M. (2001) Amyloid fibrils from muscle myoglobin. Nature 410, 165-166
-
(2001)
Nature
, vol.410
, pp. 165-166
-
-
Fandrich, M.1
Fletcher, M.A.2
Dobson, C.M.3
-
35
-
-
0025857630
-
Glycine loops in proteins: Their occurrence in certain intermediate filament chains, loricrins and single-stranded RNA binding proteins
-
Steinert, P. M., Mack, J. W., Korge, B. P., Gan, S. Q., Haynes, S. R., and Steven, A. C. (1991) Glycine loops in proteins: their occurrence in certain intermediate filament chains, loricrins and single-stranded RNA binding proteins. Int. J. Biol. Macromol. 13, 130-139
-
(1991)
Int. J. Biol. Macromol.
, vol.13
, pp. 130-139
-
-
Steinert, P.M.1
Mack, J.W.2
Korge, B.P.3
Gan, S.Q.4
Haynes, S.R.5
Steven, A.C.6
-
36
-
-
13144259646
-
Amyloid fibril formation by an SH3 domain
-
Guijarro, J. I., Sunde, M., Jones, J. A., Campbell, I. D., and Dobson, C. M. (1998) Amyloid fibril formation by an SH3 domain. Proc. Natl. Acad. Sci. U. S. A. 95, 4224-4228
-
(1998)
Proc. Natl. Acad. Sci. U. S. A.
, vol.95
, pp. 4224-4228
-
-
Guijarro, J.I.1
Sunde, M.2
Jones, J.A.3
Campbell, I.D.4
Dobson, C.M.5
-
37
-
-
2142737884
-
A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus
-
Terrinoni, A., Puddu, P., Didona, B., De Laurenzi, V., Candi, E., Smith, F. J., McLean, W. H., and Melino, G. (2000) A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus. J. Invest. Dermatol. 114, 1136-1140
-
(2000)
J. Invest. Dermatol.
, vol.114
, pp. 1136-1140
-
-
Terrinoni, A.1
Puddu, P.2
Didona, B.3
De Laurenzi, V.4
Candi, E.5
Smith, F.J.6
McLean, W.H.7
Melino, G.8
-
38
-
-
0036093823
-
Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma
-
Whittock, N. V., Smith, F. J., Wan, H., Mallipeddi, R., Griffiths, W. A., Dopping-Hepenstal, P., Ashton, G. H., Eady, R. A., McLean, W. H., and McGrath, J. A. (2002) Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. J. Invest. Dermatol. 118, 838-844
-
(2002)
J. Invest. Dermatol.
, vol.118
, pp. 838-844
-
-
Whittock, N.V.1
Smith, F.J.2
Wan, H.3
Mallipeddi, R.4
Griffiths, W.A.5
Dopping-Hepenstal, P.6
Ashton, G.H.7
Eady, R.A.8
McLean, W.H.9
McGrath, J.A.10
-
39
-
-
0042528279
-
A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema
-
Gu, L. H., Kim, S. C., Ichiki, Y., Park, J., Nagai, M., and Kitajima, Y. (2003) A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema. J. Invest. Dermatol. 121, 482-485
-
(2003)
J. Invest. Dermatol.
, vol.121
, pp. 482-485
-
-
Gu, L.H.1
Kim, S.C.2
Ichiki, Y.3
Park, J.4
Nagai, M.5
Kitajima, Y.6
-
40
-
-
33644769171
-
A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an african-american family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type
-
Richardson, E. S., Lee, J. B., Hyde, P. H., and Richard, G. A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an african-american family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type. J. Invest Dermatol. 126, 79-84
-
J. Invest Dermatol.
, vol.126
, pp. 79-84
-
-
Richardson, E.S.1
Lee, J.B.2
Hyde, P.H.3
Richard, G.4
-
41
-
-
33749035448
-
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: Two allelic ectodermal dysplasias caused by dominant mutations in KRT14
-
Lugassy, J., Itin, P., Ishida-Yamamoto, A., Holland, K., Huson, S., Geiger, D., Hennies, H. C., Indelman, M., Bercovich, D., Uitto, J., Bergman, R., McGrath, J. A., Richard, G., and Sprecher, E. (2006) Naegeli-Franceschetti- Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. Am. J. Hum. Genet. 79, 724-730
-
(2006)
Am. J. Hum. Genet.
, vol.79
, pp. 724-730
-
-
Lugassy, J.1
Itin, P.2
Ishida-Yamamoto, A.3
Holland, K.4
Huson, S.5
Geiger, D.6
Hennies, H.C.7
Indelman, M.8
Bercovich, D.9
Uitto, J.10
Bergman, R.11
McGrath, J.A.12
Richard, G.13
Sprecher, E.14
-
42
-
-
56549109174
-
Weber-Cockayne type of epidermolysis bullosa simplex associated with a novel mutation in keratin 5 and amyloid deposits
-
Chiang, Y. Y., Chao, S. C., Chen, W. Y., Lee, W. R., and Wang, K. H. (2008) Weber-Cockayne type of epidermolysis bullosa simplex associated with a novel mutation in keratin 5 and amyloid deposits. Br. J. Dermatol. 159, 1370-1372.
-
(2008)
Br. J. Dermatol.
, vol.159
, pp. 1370-1372
-
-
Chiang, Y.Y.1
Chao, S.C.2
Chen, W.Y.3
Lee, W.R.4
Wang, K.H.5
-
43
-
-
44349112225
-
Targeted deletion of the murine corneodesmosin gene delineates its essential role in skin and hair physiology
-
Matsumoto, M., Zhou, Y., Matsuo, S., Nakanishi, H., Hirose, K., Oura, H., Arase, S., Ishida-Yamamoto, A., Bando, Y., Izumi, K., Kiyonari, H., Oshima, N., Nakayama, R., Matsushima, A., Hirota, F., Mouri, Y., Kuroda, N., Sano, S., and Chaplin, D. D. (2008) Targeted deletion of the murine corneodesmosin gene delineates its essential role in skin and hair physiology. Proc. Natl. Acad. Sci. U. S. A. 105, 6720-6724
-
(2008)
Proc. Natl. Acad. Sci. U. S. A.
, vol.105
, pp. 6720-6724
-
-
Matsumoto, M.1
Zhou, Y.2
Matsuo, S.3
Nakanishi, H.4
Hirose, K.5
Oura, H.6
Arase, S.7
Ishida-Yamamoto, A.8
Bando, Y.9
Izumi, K.10
Kiyonari, H.11
Oshima, N.12
Nakayama, R.13
Matsushima, A.14
Hirota, F.15
Mouri, Y.16
Kuroda, N.17
Sano, S.18
Chaplin, D.D.19
-
44
-
-
69549096268
-
Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction
-
Leclerc, E. A., Huchenq, A., Mattiuzzo, N. R., Metzger, D., Chambon, P., Ghyselinck, N. B., Serre, G., Jonca, N., and Guerrin, M. (2009) Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction. J. Cell Sci. 122, 2699-2709
-
(2009)
J. Cell Sci.
, vol.122
, pp. 2699-2709
-
-
Leclerc, E.A.1
Huchenq, A.2
Mattiuzzo, N.R.3
Metzger, D.4
Chambon, P.5
Ghyselinck, N.B.6
Serre, G.7
Jonca, N.8
Guerrin, M.9
-
45
-
-
0032831759
-
Fourier transform infrared spectroscopy in analysis of protein deposits
-
Seshadri, S., Khurana, R., and Fink, A. L. (1999) Fourier transform infrared spectroscopy in analysis of protein deposits. Methods Enzymol. 309, 559-576
-
(1999)
Methods Enzymol.
, vol.309
, pp. 559-576
-
-
Seshadri, S.1
Khurana, R.2
Fink, A.L.3
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