-
1
-
-
0023732713
-
A computer program to make analysis with LIPED and LINKAGE easier to perform and less prone to input errors
-
J. Attwood S. Bryant A computer program to make analysis with LIPED and LINKAGE easier to perform and less prone to input errors Ann Hum Genet 52 1988 259
-
(1988)
Ann Hum Genet
, vol.52
, pp. 259
-
-
Attwood, J.1
Bryant, S.2
-
2
-
-
0021174720
-
Variant of keratoderma hereditaria mutilans (Vohiwinkel’s Syndrome)
-
C. Camisa C. Rossana Variant of keratoderma hereditaria mutilans (Vohiwinkel’s Syndrome) Arch Dermatol 120 1984 1323 1328
-
(1984)
Arch Dermatol
, vol.120
, pp. 1323-1328
-
-
Camisa, C.1
Rossana, C.2
-
3
-
-
0024217727
-
Autosomal dominant keratoderma ichthyosiform dermatosis and elevated serum beta-glucuronidase
-
C. Camisa A. Hessel C. Rossana A. Parks Autosomal dominant keratoderma ichthyosiform dermatosis and elevated serum beta-glucuronidase Dermatologica 177 1988 341 347
-
(1988)
Dermatologica
, vol.177
, pp. 341-347
-
-
Camisa, C.1
Hessel, A.2
Rossana, C.3
Parks, A.4
-
4
-
-
0030455978
-
Human keratin diseases: Hereditary fragility of specific epithelial tissues
-
L.D. Corden W.H.I. McLean Human keratin diseases: Hereditary fragility of specific epithelial tissues Exp Derm 5 1996 297 307
-
(1996)
Exp Derm
, vol.5
, pp. 297-307
-
-
Corden, L.D.1
McLean, W.H.I.2
-
5
-
-
0025949412
-
Nuclear targeting sequences-a consensus?
-
C. Dingwall R.A. Laskey Nuclear targeting sequences-a consensus? Trends Biochem Sci 16 1991 478 481
-
(1991)
Trends Biochem Sci
, vol.16
, pp. 478-481
-
-
Dingwall, C.1
Laskey, R.A.2
-
6
-
-
0345048026
-
A case of unusual skin disease
-
M. Drummoud A case of unusual skin disease Irish J Med Sci 8 1939 85 86
-
(1939)
Irish J Med Sci
, vol.8
, pp. 85-86
-
-
Drummoud, M.1
-
7
-
-
0002913811
-
Transmission electron microscopy
-
R.A.J. Eady Transmission electron microscopy D. Skerrow C.J. Skerrow Methods in skin research 1985 John Wiley and Sons Chichester 1 36
-
(1985)
, pp. 1-36
-
-
Eady, R.A.J.1
-
9
-
-
0013965847
-
Keratoma hereditria mutilans (Vohwinkel)
-
R.C. Gibbs S. Frank Keratoma hereditria mutilans (Vohwinkel) Arch Derm Syph 94 1966 619 625
-
(1966)
Arch Derm Syph
, vol.94
, pp. 619-625
-
-
Gibbs, R.C.1
Frank, S.2
-
10
-
-
0005950733
-
Observations on Ainhum: Dock it exist as an independent disease?
-
S. Grschebin Observations on Ainhum: Dock it exist as an independent disease? Urol Cut Rev 40 1932 98 102
-
(1932)
Urol Cut Rev
, vol.40
, pp. 98-102
-
-
Grschebin, S.1
-
11
-
-
0029041276
-
Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster
-
H.-C. Hennies W. Küster D. Mischke A. Reis Localization of a locus for the striated form of palmoplantar keratoderma to chromosome 18q near the desmosomal cadherin gene cluster Hum Mol Genet 4 1995 1015 1020
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1015-1020
-
-
Hennies, H.-C.1
Küster, W.2
Mischke, D.3
Reis, A.4
-
12
-
-
0029155863
-
Palmoplantar keratoderma in association with catcinoma of the esophagus maps to chromosome 17q distal to the keratin cluster
-
H.-C. Hennies M. Hagedorn A. Reis Palmoplantar keratoderma in association with catcinoma of the esophagus maps to chromosome 17q distal to the keratin cluster Genomics 29 1995 537 554
-
(1995)
Genomics
, vol.29
, pp. 537-554
-
-
Hennies, H.-C.1
Hagedorn, M.2
Reis, A.3
-
13
-
-
0025726921
-
Transcription of the human loricrin gene in vitro it induced by calcium and cell density and suppressed by retinoic acid
-
D. Hohl U. Lichti D. Breitkreutz P.M. Steinert D.R. Roop Transcription of the human loricrin gene in vitro it induced by calcium and cell density and suppressed by retinoic acid J invest Dermatol 96 1991 414 418
-
(1991)
J invest Dermatol
, vol.96
, pp. 414-418
-
-
Hohl, D.1
Lichti, U.2
Breitkreutz, D.3
Steinert, P.M.4
Roop, D.R.5
-
15
-
-
0028947560
-
Mutations of keratinocyte translutaminase in Lunellar ichthyosis
-
M. Huber I. Rettler K. Bernasconi E. Frenk S. LaVrijsen M. Ponec A. Bon S. Lautenschlager D. Schimleret D. Hohl Mutations of keratinocyte translutaminase in Lunellar ichthyosis Science 267 1995 525 528
-
(1995)
Science
, vol.267
, pp. 525-528
-
-
Huber, M.1
Rettler, I.2
Bernasconi, K.3
Frenk, E.4
LaVrijsen, S.5
Ponec, M.6
Bon, A.7
Lautenschlager, S.8
Schimleret, D.9
Hohl, D.10
-
16
-
-
0028929039
-
Differences in involucrin immunolabeling within cornified cell envelopes in normal and psoriatic epidermis
-
A. Ishida-Yamamoto H. Iizuka Differences in involucrin immunolabeling within cornified cell envelopes in normal and psoriatic epidermis Invest Dermatol 104 1995 391 395
-
(1995)
Invest Dermatol
, vol.104
, pp. 391-395
-
-
Ishida-Yamamoto, A.1
Iizuka, H.2
-
19
-
-
0029865563
-
The molecular basis for inherited bullous diseases
-
B.P. Korge T. Krieg The molecular basis for inherited bullous diseases J Mol Med 74 1996 59 70
-
(1996)
J Mol Med
, vol.74
, pp. 59-70
-
-
Korge, B.P.1
Krieg, T.2
-
20
-
-
0021344005
-
Easy calculation of lod scores genetic risks on small computers
-
G.M. Lathrop J.M. Lalouel Easy calculation of lod scores genetic risks on small computers Am J Hum Genet 36 1984 460 465
-
(1984)
Am J Hum Genet
, vol.36
, pp. 460-465
-
-
Lathrop, G.M.1
Lalouel, J.M.2
-
21
-
-
15844391073
-
A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel’s syndrome
-
E. Maestrini A.P. Monaco J.A. McGrath A. Ishida-Yamamoto C. Camisa A. Hovnanian D.E. Weeks M. Lathrop J. Uitro A.M. Christiano A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel’s syndrome Nature Genet 13 1996 70 77
-
(1996)
Nature Genet
, vol.13
, pp. 70-77
-
-
Maestrini, E.1
Monaco, A.P.2
McGrath, J.A.3
Ishida-Yamamoto, A.4
Camisa, C.5
Hovnanian, A.6
Weeks, D.E.7
Lathrop, M.8
Uitro, J.9
Christiano, A.M.10
-
22
-
-
0030298283
-
Genetic analysis of the epidermal differentiation complex (EDC) on human chromosome 1q21: Chromosomal orientation, new markers, and a 6Mbp YAC contig
-
I. Marenholz A. Volz A. Ziegler A. Davies I. Ragoussis B.P. Korge D. Mischke Genetic analysis of the epidermal differentiation complex (EDC) on human chromosome 1q21: Chromosomal orientation, new markers, and a 6Mbp YAC contig Genomics 37 1996 295 302
-
(1996)
Genomics
, vol.37
, pp. 295-302
-
-
Marenholz, I.1
Volz, A.2
Ziegler, A.3
Davies, A.4
Ragoussis, I.5
Korge, B.P.6
Mischke, D.7
-
24
-
-
0029932799
-
Genes encoding structural proteins of epidermal cornification and S100 calcium-binding form a gene complex (“epidermal differentiation complex”) on human chromosome Iq21
-
D. Misrhke B.P. Korge I. Marengolz A. Volz A. Ziegler Genes encoding structural proteins of epidermal cornification and S100 calcium-binding form a gene complex (“epidermal differentiation complex”) on human chromosome Iq21 J Invest Dermatol 106 1996 989 992
-
(1996)
J Invest Dermatol
, vol.106
, pp. 989-992
-
-
Misrhke, D.1
Korge, B.P.2
Marengolz, I.3
Volz, A.4
Ziegler, A.5
-
25
-
-
0030964105
-
Nucleocytoplasmic transport: signals, mechanisms and regulation
-
E. Nigg Nucleocytoplasmic transport: signals, mechanisms and regulation Nature 386 1997 779 787
-
(1997)
Nature
, vol.386
, pp. 779-787
-
-
Nigg, E.1
-
26
-
-
0345048037
-
Erbliche Hornhautverdickung mit Schnürfurchen an Fingern und Zehen mit Innenohrschwerhörigkeit
-
P.E. Nockemann Erbliche Hornhautverdickung mit Schnürfurchen an Fingern und Zehen mit Innenohrschwerhörigkeit Med Welt 37 1961 1894 1900
-
(1961)
Med Welt
, vol.37
, pp. 1894-1900
-
-
Nockemann, P.E.1
-
28
-
-
85114530248
-
-
J. Ott Analysis of Human Genetic Linkage 1984 John Hopkins Univeristy Press Baltimore
-
(1984)
-
-
Ott, J.1
-
29
-
-
0020959226
-
Mutilating keratoderma of Vohwinker
-
B.S.N. Reddy S.K. Gupta Mutilating keratoderma of Vohwinker Int J Dermatol 20 1983 530 533
-
(1983)
Int J Dermatol
, vol.20
, pp. 530-533
-
-
Reddy, B.S.N.1
Gupta, S.K.2
-
30
-
-
0029741672
-
Envoplakin, a novel precursor of the cornified envelope that has homology to desmoplakin
-
C. Ruhrberg M.A.N. Hajibagheri M. Simon T.P. Dooley F.M. Watt Envoplakin, a novel precursor of the cornified envelope that has homology to desmoplakin J Cell Biol 134 1996 715 729
-
(1996)
J Cell Biol
, vol.134
, pp. 715-729
-
-
Ruhrberg, C.1
Hajibagheri, M.A.N.2
Simon, M.3
Dooley, T.P.4
Watt, F.M.5
-
32
-
-
8044227806
-
Missense mutations in keratin 17 cause either pachynnychia congenita type 2 or a phenotype resembling steatocystoma multiplex
-
F.J.D. Smith L.D. Corden E.L. Rugg R. Ratnavel I.M. Leigh C. Moos M.J. Tidman D. Hohl M. Huber L. Kunkeler C.S. Munro E.B. Lane W.H.I. McLean Missense mutations in keratin 17 cause either pachynnychia congenita type 2 or a phenotype resembling steatocystoma multiplex J Invest Dermatol 108 1997 220 223
-
(1997)
J Invest Dermatol
, vol.108
, pp. 220-223
-
-
Smith, F.J.D.1
Corden, L.D.2
Rugg, E.L.3
Ratnavel, R.4
Leigh, I.M.5
Moos, C.6
Tidman, M.J.7
Hohl, D.8
Huber, M.9
Kunkeler, L.10
Munro, C.S.11
Lane, E.B.12
McLean, W.H.I.13
-
33
-
-
0016707603
-
The polypeptide composition of bovine epidermal alpha-keratin
-
P.M. Steinert W.W. Idler The polypeptide composition of bovine epidermal alpha-keratin Biochem J 151 1975 603 614
-
(1975)
Biochem J
, vol.151
, pp. 603-614
-
-
Steinert, P.M.1
Idler, W.W.2
-
34
-
-
0029050246
-
The proteins elafin, filaggrin, keratin intermediate loricrin, and small proline-rich proteins 1 and 2 are isodipeptide cross-linked components of the human epidermal cornified cell envelope
-
P.M. Steinert L.N. Marekov The proteins elafin, filaggrin, keratin intermediate loricrin, and small proline-rich proteins 1 and 2 are isodipeptide cross-linked components of the human epidermal cornified cell envelope J Biol Chem 270 1995 17702 17711
-
(1995)
J Biol Chem
, vol.270
, pp. 17702-17711
-
-
Steinert, P.M.1
Marekov, L.N.2
-
35
-
-
0031037715
-
Direct evidence that involucrin is a major early isopeptide crosslinked componenet of the keratinocyte cornified cell envelope
-
P.M. Steinert L.N. Marekov Direct evidence that involucrin is a major early isopeptide crosslinked componenet of the keratinocyte cornified cell envelope J Biol Chem 272 1997 2021 2030
-
(1997)
J Biol Chem
, vol.272
, pp. 2021-2030
-
-
Steinert, P.M.1
Marekov, L.N.2
-
36
-
-
0025857630
-
Glycine loops in proteins: Their occurrence in certain intermediate filament chains, loricrins and single-stranded RNA binding proteins
-
P.M. Steinert J.W. Mack B.P. Karge S.-Q. Can S. Haynes A.C. Steven Glycine loops in proteins: Their occurrence in certain intermediate filament chains, loricrins and single-stranded RNA binding proteins Int J Biol Macromol 13 1991 130 139
-
(1991)
Int J Biol Macromol
, vol.13
, pp. 130-139
-
-
Steinert, P.M.1
Mack, J.W.2
Karge, B.P.3
Can, S.-Q.4
Haynes, S.5
Steven, A.C.6
-
37
-
-
0025690613
-
Biosynthetic pathways of filangrin and loricrin – two major proteins expressed by terminally differentiated epidermal keratinocytes
-
A.C. Steven M.E. Bisher D.R. Roop P.M. Steinert Biosynthetic pathways of filangrin and loricrin – two major proteins expressed by terminally differentiated epidermal keratinocytes J Struct Biol 104 1990 150 162
-
(1990)
J Struct Biol
, vol.104
, pp. 150-162
-
-
Steven, A.C.1
Bisher, M.E.2
Roop, D.R.3
Steinert, P.M.4
-
38
-
-
0029988982
-
Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24 Literature survey and proposed updated classification of the keratodermas
-
H.P. Stevens D.P. Kelsell S.P. Bryant D.T. Bishop N.K. Spurr J. Weissenbach D. Marger R.S. Marger I.M. Leigh Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24 Literature survey and proposed updated classification of the keratodermas Arch Dermatol 132 1996 640 651
-
(1996)
Arch Dermatol
, vol.132
, pp. 640-651
-
-
Stevens, H.P.1
Kelsell, D.P.2
Bryant, S.P.3
Bishop, D.T.4
Spurr, N.K.5
Weissenbach, J.6
Marger, D.7
Marger, R.S.8
Leigh, I.M.9
-
39
-
-
0017047237
-
Differentiation of the epidermal keratinocyte in cell culture: formation of the cornified envelope
-
T.T. Sun H. Green Differentiation of the epidermal keratinocyte in cell culture: formation of the cornified envelope Cell 9 1976 511 521
-
(1976)
Cell
, vol.9
, pp. 511-521
-
-
Sun, T.T.1
Green, H.2
-
40
-
-
0001245331
-
Keratoma hereditarium mutilans
-
K.H. Vohwinkel Keratoma hereditarium mutilans Arch Derm Syph 158 1929 354 364
-
(1929)
Arch Derm Syph
, vol.158
, pp. 354-364
-
-
Vohwinkel, K.H.1
-
41
-
-
0027362808
-
Physical mapping of a functional cluster of epidermal differentiation genes on chromosome 1q21
-
A. Vols B.P. Korge J.G. Compton A. Ziegler P.M. Steinen D. Mischke Physical mapping of a functional cluster of epidermal differentiation genes on chromosome 1q21 Genomics 18 1993 92 99
-
(1993)
Genomics
, vol.18
, pp. 92-99
-
-
Vols, A.1
Korge, B.P.2
Compton, J.G.3
Ziegler, A.4
Steinen, P.M.5
Mischke, D.6
-
42
-
-
0005986945
-
Keratoma hereditarium mutilans
-
F. Wirz Keratoma hereditarium mutilans Arch Derm Syph 159 1930 311 312
-
(1930)
Arch Derm Syph
, vol.159
, pp. 311-312
-
-
Wirz, F.1
-
44
-
-
0027436839
-
Overexpression of human loricrin in transgenic mice produces a normal phenotype
-
K. Yoneda P.M. Steinen Overexpression of human loricrin in transgenic mice produces a normal phenotype Proc Natl Acad Sci USA 90 1993 10754 10758
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 10754-10758
-
-
Yoneda, K.1
Steinen, P.M.2
-
45
-
-
0024454035
-
Expression of murine epidermal differentiation markers is tigghty regulated by restricted extracellular calcium concentrations in vitro
-
S.H. Yuspa A.E. Kilkenny P.M. Steinert D.R. Roop Expression of murine epidermal differentiation markers is tigghty regulated by restricted extracellular calcium concentrations in vitro J Cell Biol 109 1989 1207 1217
-
(1989)
J Cell Biol
, vol.109
, pp. 1207-1217
-
-
Yuspa, S.H.1
Kilkenny, A.E.2
Steinert, P.M.3
Roop, D.R.4
|