-
1
-
-
0017074881
-
Alexander's disease: A report and reappraisal
-
Russo LS Jr, Aron A, Anderson PJ. Alexander's disease: a report and reappraisal. Neurology 1976;26:607-614.
-
(1976)
Neurology
, vol.26
, pp. 607-614
-
-
Russo Jr., L.S.1
Aron, A.2
Anderson, P.J.3
-
3
-
-
0141962674
-
Alexander disease: Clinical, pathological and genetic features
-
Johnson AB, Brenner M. Alexander disease: clinical, pathological and genetic features. J Child Neurol 2003;18:625-632.
-
(2003)
J Child Neurol
, vol.18
, pp. 625-632
-
-
Johnson, A.B.1
Brenner, M.2
-
4
-
-
14844282022
-
Alexander disease
-
Lazzarini RA, ed. San Diego: Academic Press
-
Messing A, Goldman JE. Alexander disease. In: Lazzarini RA, ed. Myelin and its diseases. San Diego: Academic Press, 2004: 851-866.
-
(2004)
Myelin and Its Diseases
, pp. 851-866
-
-
Messing, A.1
Goldman, J.E.2
-
5
-
-
0000704819
-
Über eine eigenthümliche, mit Syringomyelie komplizierte Geschwulst des Rückenmarks
-
Rosenthal W. Über eine eigenthümliche, mit Syringomyelie komplizierte Geschwulst des Rückenmarks. (Bietr) Betrieb Pathol Anat 1898;23:111-143.
-
(1898)
(Bietr) Betrieb Pathol Anat
, vol.23
, pp. 111-143
-
-
Rosenthal, W.1
-
6
-
-
0000879584
-
Progressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infant
-
Alexander WS. Progressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infant. Brain 1949;72:373-381.
-
(1949)
Brain
, vol.72
, pp. 373-381
-
-
Alexander, W.S.1
-
7
-
-
0024446498
-
On-grid immunogold labeling of glial intermediate filaments in epoxy-embedded tissue
-
Johnson AB, Bettica A. On-grid immunogold labeling of glial intermediate filaments in epoxy-embedded tissue. Am J Anat 1989;185:335-341.
-
(1989)
Am J Anat
, vol.185
, pp. 335-341
-
-
Johnson, A.B.1
Bettica, A.2
-
8
-
-
0025869777
-
Rosenthal fibers share epitopes with αB-crystallin, glial fibrillary acidic protein, and ubiquitin, but not with vimentin. Immunoelectron microscopy with colloidal gold
-
Tomokane N, Iwaki T, Tateisha J, et al. Rosenthal fibers share epitopes with αB-crystallin, glial fibrillary acidic protein, and ubiquitin, but not with vimentin. Immunoelectron microscopy with colloidal gold. Am J Pathol 1991;138:875-885.
-
(1991)
Am J Pathol
, vol.138
, pp. 875-885
-
-
Tomokane, N.1
Iwaki, T.2
Tateisha, J.3
-
9
-
-
0024521440
-
Alpha B-crystallin is expressed in non-lenticular tissues and accumulates in Alexander's disease brain
-
Iwaki T, Kume-Iwaki A, Liem RK, Goldman JE. Alpha B-crystallin is expressed in non-lenticular tissues and accumulates in Alexander's disease brain. Cell 1989;57:71-78.
-
(1989)
Cell
, vol.57
, pp. 71-78
-
-
Iwaki, T.1
Kume-Iwaki, A.2
Liem, R.K.3
Goldman, J.E.4
-
10
-
-
0027742866
-
Alpha B-crystallin and 27-kd heat shock protein are regulated by stress conditions in the central nervous system and accumulate in Rosenthal fibers
-
Iwaki T, Iwaki A, Tateishi J, et al. Alpha B-crystallin and 27-kd heat shock protein are regulated by stress conditions in the central nervous system and accumulate in Rosenthal fibers. Am J Pathol 1993;143:487-495.
-
(1993)
Am J Pathol
, vol.143
, pp. 487-495
-
-
Iwaki, T.1
Iwaki, A.2
Tateishi, J.3
-
11
-
-
0345478038
-
Rosenthal fibers in tumors of the central nervous system
-
Grcevic N, Yates PO. Rosenthal fibers in tumors of the central nervous system. J Pathol Bacteriol 1957;73:467-472.
-
(1957)
J Pathol Bacteriol
, vol.73
, pp. 467-472
-
-
Grcevic, N.1
Yates, P.O.2
-
12
-
-
0016769091
-
Piloid astrocytes (spongiocytes) and Rosenthal fibers in multiple sclerosis
-
Schlote W. [Piloid astrocytes (spongiocytes) and Rosenthal fibers in multiple sclerosis (author's transl)]. Acta Neuropathol (Berl) 1975;33:35-44.
-
(1975)
Acta Neuropathol (Berl)
, vol.33
, pp. 35-44
-
-
Schlote, W.1
-
13
-
-
0035163913
-
Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease
-
Brenner M, Johnson AB, Boespflug-Tanguy O, et al. Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nat Genet 2001;27:117-120.
-
(2001)
Nat Genet
, vol.27
, pp. 117-120
-
-
Brenner, M.1
Johnson, A.B.2
Boespflug-Tanguy, O.3
-
14
-
-
0037335755
-
Molecular architecture of intermediate filaments
-
Strelkov SV, Herrmann H, Aebi U. Molecular architecture of intermediate filaments. Bioessays 2003;25:243-251.
-
(2003)
Bioessays
, vol.25
, pp. 243-251
-
-
Strelkov, S.V.1
Herrmann, H.2
Aebi, U.3
-
16
-
-
0141959125
-
Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein gene
-
Bassuk AG, Joshi A, Burton BK, et al. Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein gene. Neurology 2003;61:1014-1015.
-
(2003)
Neurology
, vol.61
, pp. 1014-1015
-
-
Bassuk, A.G.1
Joshi, A.2
Burton, B.K.3
-
17
-
-
0032988904
-
Infantile and juvenile presentations of Alexander's disease: A report of two cases
-
Deprez M, D'Hooghe M, Misson JP, et al. Infantile and juvenile presentations of Alexander's disease: a report of two cases. Acta Neurol Scand 1999;99:158-165. (Erratum in: Acta Neurol Scand 1999;100:354.)
-
(1999)
Acta Neurol Scand
, vol.99
, pp. 158-165
-
-
Deprez, M.1
D'Hooghe, M.2
Misson, J.P.3
-
18
-
-
0032847107
-
Erratum
-
Deprez M, D'Hooghe M, Misson JP, et al. Infantile and juvenile presentations of Alexander's disease: a report of two cases. Acta Neurol Scand 1999;99:158-165. (Erratum in: Acta Neurol Scand 1999;100:354.)
-
(1999)
Acta Neurol Scand
, vol.100
, pp. 354
-
-
-
19
-
-
17944390807
-
Optimisation of DNA and RNA extraction from archival formalin-fixed tissue
-
Coombs NJ, Gough AC, Primrose JN. Optimisation of DNA and RNA extraction from archival formalin-fixed tissue. Nucleic Acids Res 1999;27:e12.
-
(1999)
Nucleic Acids Res
, vol.27
-
-
Coombs, N.J.1
Gough, A.C.2
Primrose, J.N.3
-
20
-
-
0023785164
-
The separation of transcriptionally engaged genes
-
Ip YT, Jackson V, Meier J, Chalkley R. The separation of transcriptionally engaged genes. J Biol Chem 1988;263: 14044-14052.
-
(1988)
J Biol Chem
, vol.263
, pp. 14044-14052
-
-
Ip, Y.T.1
Jackson, V.2
Meier, J.3
Chalkley, R.4
-
21
-
-
0001473216
-
Formaldehyde-mediated DNA-protein crosslinking: A probe for in vivo chromatin structures
-
Solomon MJ, Varshavsky A. Formaldehyde-mediated DNA-protein crosslinking: a probe for in vivo chromatin structures. Proc Natl Acad Sci U S A 1985;82:6470-6474.
-
(1985)
Proc Natl Acad Sci U S A
, vol.82
, pp. 6470-6474
-
-
Solomon, M.J.1
Varshavsky, A.2
-
23
-
-
0025321773
-
Characterization of human cDNA and genomic clones for glial fibrillary acidic protein
-
Brenner M, Lampel K, Nakatani Y, et al. Characterization of human cDNA and genomic clones for glial fibrillary acidic protein. Brain Res Mol Brain Res 1990;7:277-286.
-
(1990)
Brain Res Mol Brain Res
, vol.7
, pp. 277-286
-
-
Brenner, M.1
Lampel, K.2
Nakatani, Y.3
-
24
-
-
0030063171
-
Detection of protein kinase activity specifically activated at metaphase-anaphase transition
-
Sekimata M, Tsujimura K, Tanaka J, et al. Detection of protein kinase activity specifically activated at metaphase-anaphase transition. J Cell Biol 1996;132:635-641.
-
(1996)
J Cell Biol
, vol.132
, pp. 635-641
-
-
Sekimata, M.1
Tsujimura, K.2
Tanaka, J.3
-
25
-
-
0022538727
-
Absence of intermediate filaments in a human adrenal cortex carcinoma-derived cell line
-
Hedberg KK, Chen LB. Absence of intermediate filaments in a human adrenal cortex carcinoma-derived cell line. Exp Cell Res 1986;163:509-517.
-
(1986)
Exp Cell Res
, vol.163
, pp. 509-517
-
-
Hedberg, K.K.1
Chen, L.B.2
-
28
-
-
0033828761
-
Estimate of the mutation rate per nucleotide in humans
-
Nachman MW, Crowell SL. Estimate of the mutation rate per nucleotide in humans. Genetics 2000;156:297-304.
-
(2000)
Genetics
, vol.156
, pp. 297-304
-
-
Nachman, M.W.1
Crowell, S.L.2
-
29
-
-
0034908554
-
Nomenclature for the description of human sequence variations
-
den Dunnen JT, Antonarakis SE. Nomenclature for the description of human sequence variations. Hum Genet 2001;109: 121-124.
-
(2001)
Hum Genet
, vol.109
, pp. 121-124
-
-
Den Dunnen, J.T.1
Antonarakis, S.E.2
-
30
-
-
0025907232
-
Human glial fibrillary acidic protein: Complementary DNA cloning, chromosome localization, and messenger RNA expression in human glioma cell lines of various phenotypes
-
Bongcam-Rudloff E, Nister M, Betsholtz C, et al. Human glial fibrillary acidic protein: complementary DNA cloning, chromosome localization, and messenger RNA expression in human glioma cell lines of various phenotypes. Cancer Res 1991;51: 1553-1560.
-
(1991)
Cancer Res
, vol.51
, pp. 1553-1560
-
-
Bongcam-Rudloff, E.1
Nister, M.2
Betsholtz, C.3
-
31
-
-
0037188379
-
Molecular findings in symptomatic and pre-symptomatic Alexander disease patients
-
Gorospe JR, Naidu S, Johnson AB, et al. Molecular findings in symptomatic and pre-symptomatic Alexander disease patients. Neurology 2002;58:1494-1500.
-
(2002)
Neurology
, vol.58
, pp. 1494-1500
-
-
Gorospe, J.R.1
Naidu, S.2
Johnson, A.B.3
-
32
-
-
0034753242
-
Infantile Alexander disease: Spectrum of GFAP mutations and genotype-phenotype correlation
-
Rodriguez D, Gauthier F, Bertini E, et al. Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation. Am J Hum Genet 2001;69:1134-1140.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 1134-1140
-
-
Rodriguez, D.1
Gauthier, F.2
Bertini, E.3
-
33
-
-
0037358402
-
Molecular genetic study in Japanese patients with Alexander disease: A novel mutation, R79L
-
Shiroma N, Kanazawa N, Kato Z, et al. Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L. Brain Dev 2003;25:116-121.
-
(2003)
Brain Dev
, vol.25
, pp. 116-121
-
-
Shiroma, N.1
Kanazawa, N.2
Kato, Z.3
-
34
-
-
0036695455
-
Infantile Alexander disease: A GFAP mutation in monozygotic twins and novel mutations in two other patients
-
Meins M, Brockmann K, Yadav S, et al. Infantile Alexander disease: a GFAP mutation in monozygotic twins and novel mutations in two other patients. Neuropediatrics 2002;33: 194-198.
-
(2002)
Neuropediatrics
, vol.33
, pp. 194-198
-
-
Meins, M.1
Brockmann, K.2
Yadav, S.3
-
35
-
-
0034760110
-
Diagnosis of Alexander disease in a Japanese patient by molecular genetic analysis
-
Shiroma N, Kanazawa N, Izumi M, et al. Diagnosis of Alexander disease in a Japanese patient by molecular genetic analysis. J Hum Genet 2001;46:579-582.
-
(2001)
J Hum Genet
, vol.46
, pp. 579-582
-
-
Shiroma, N.1
Kanazawa, N.2
Izumi, M.3
-
36
-
-
0038247708
-
In vivo diagnosis of infantile Alexander disease by molecular genetic analysis of GFAP gene
-
Trollmann R, Kraus C, Orlova N, et al. In vivo diagnosis of infantile Alexander disease by molecular genetic analysis of GFAP gene [German]. Monatsschrift für Kinderheilkunde 2003;151:311-314.
-
(2003)
Monatsschrift für Kinderheilkunde
, vol.151
, pp. 311-314
-
-
Trollmann, R.1
Kraus, C.2
Orlova, N.3
-
37
-
-
0036771658
-
MR imaging and 1H-MR spectroscopy in a case of juvenile Alexander disease
-
Imamura A, Orii KE, Mizuno S, et al. MR imaging and 1H-MR spectroscopy in a case of juvenile Alexander disease. Brain Dev 2002;24:723-726.
-
(2002)
Brain Dev
, vol.24
, pp. 723-726
-
-
Imamura, A.1
Orii, K.E.2
Mizuno, S.3
-
38
-
-
0037231429
-
Atypical focal MRI lesions in a case of juvenile Alexander's disease
-
Probst EN, Hagel C, Weisz V, et al. Atypical focal MRI lesions in a case of juvenile Alexander's disease. Ann Neurol 2003;53: 118-120.
-
(2003)
Ann Neurol
, vol.53
, pp. 118-120
-
-
Probst, E.N.1
Hagel, C.2
Weisz, V.3
-
39
-
-
0036018884
-
Fluctuation of computed tomographic findings in white matter in Alexander's disease
-
Shiihara T, Kato M, Honma T, et al. Fluctuation of computed tomographic findings in white matter in Alexander's disease. J Child Neurol 2002;17:227-230.
-
(2002)
J Child Neurol
, vol.17
, pp. 227-230
-
-
Shiihara, T.1
Kato, M.2
Honma, T.3
-
40
-
-
0035914004
-
A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease
-
Aoki Y, Haginoya K, Munakata M, et al. A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease. Neurosci Lett 2001;312:71-74.
-
(2001)
Neurosci Lett
, vol.312
, pp. 71-74
-
-
Aoki, Y.1
Haginoya, K.2
Munakata, M.3
-
41
-
-
0037188387
-
Juvenile Alexander disease with a novel mutation in glial fibrillary acidic protein gene
-
Sawaishi Y, Yano T, Takaku I, Takada G. Juvenile Alexander disease with a novel mutation in glial fibrillary acidic protein gene. Neurology 2002;58:1541-1543.
-
(2002)
Neurology
, vol.58
, pp. 1541-1543
-
-
Sawaishi, Y.1
Yano, T.2
Takaku, I.3
Takada, G.4
-
42
-
-
0041920559
-
Adult Alexander disease with autosomal dominant transmission: A distinct entity caused by mutation in the glial fibrillary acid protein gene
-
Stumpf E, Massen H, Duquette A, et al. Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene. Arch Neurol 2003;60:1307-1312.
-
(2003)
Arch Neurol
, vol.60
, pp. 1307-1312
-
-
Stumpf, E.1
Massen, H.2
Duquette, A.3
-
43
-
-
0037086886
-
Autosomal dominant palatal myoclonus and spinal cord atrophy
-
Okamoto Y, Mitsuyama H, Jonosono M, et al. Autosomal dominant palatal myoclonus and spinal cord atrophy. J Neurol Sci 2002;195:71-76.
-
(2002)
J Neurol Sci
, vol.195
, pp. 71-76
-
-
Okamoto, Y.1
Mitsuyama, H.2
Jonosono, M.3
-
44
-
-
0141456745
-
A novel GFAP mutation and disseminated white matter lesions: Adult Alexander disease?
-
Brockmann K, Meins M, Taubert A, et al. A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease? Eur Neurol 2003;50:100-105.
-
(2003)
Eur Neurol
, vol.50
, pp. 100-105
-
-
Brockmann, K.1
Meins, M.2
Taubert, A.3
-
45
-
-
0036894173
-
Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease
-
Namekawa M, Takiyama Y, Aoki Y, et al. Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease. Ann Neurol 2002;52:779-785.
-
(2002)
Ann Neurol
, vol.52
, pp. 779-785
-
-
Namekawa, M.1
Takiyama, Y.2
Aoki, Y.3
-
46
-
-
0141783609
-
A case of adult-onset Alexander disease with Arg416Trp human glial fibrillary acidic protein gene mutation
-
Kinoshita T, Imaizumi T, Miura Y, et al. A case of adult-onset Alexander disease with Arg416Trp human glial fibrillary acidic protein gene mutation. Neurosci Lett 2003;350:169-172.
-
(2003)
Neurosci Lett
, vol.350
, pp. 169-172
-
-
Kinoshita, T.1
Imaizumi, T.2
Miura, Y.3
-
47
-
-
7244224926
-
Dominantly-inherited adult-onset leukodystrophy with palatal tremor caused by a mutation in the glial fibrillary acidic protein gene
-
Thyagarajan D, Chataway T, Li R, et al. Dominantly-inherited adult-onset leukodystrophy with palatal tremor caused by a mutation in the glial fibrillary acidic protein gene. Mov Disord 2004;19:1244-1248.
-
(2004)
Mov Disord
, vol.19
, pp. 1244-1248
-
-
Thyagarajan, D.1
Chataway, T.2
Li, R.3
-
48
-
-
0028276415
-
Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma
-
Hennies HC, Zehender D, Kunze J, et al. Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma. Hum Genet 1994;93:649-654.
-
(1994)
Hum Genet
, vol.93
, pp. 649-654
-
-
Hennies, H.C.1
Zehender, D.2
Kunze, J.3
-
49
-
-
0032456470
-
Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland
-
Covello SP, Irvine AD, McKenna KE, et al. Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland. J Invest Dermatol 1998;111:1207-1209.
-
(1998)
J Invest Dermatol
, vol.111
, pp. 1207-1209
-
-
Covello, S.P.1
Irvine, A.D.2
McKenna, K.E.3
-
50
-
-
0028347894
-
Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity
-
Syder AJ, Yu QC, Paller AS, et al. Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity. J Clin Invest 1994;93:1533-1542.
-
(1994)
J Clin Invest
, vol.93
, pp. 1533-1542
-
-
Syder, A.J.1
Yu, Q.C.2
Paller, A.S.3
-
51
-
-
0028135470
-
Genetic and clinical mosaicism in a type of epidermal nevus
-
Paller AS, Syder AJ, Chan YM, et al. Genetic and clinical mosaicism in a type of epidermal nevus. N Engl J Med 1994;331: 1408-1415.
-
(1994)
N Engl J Med
, vol.331
, pp. 1408-1415
-
-
Paller, A.S.1
Syder, A.J.2
Chan, Y.M.3
-
52
-
-
0033958844
-
Molecular genetics of Meesmann's corneal dystrophy: Ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene
-
Corden LD, Swensson O, Swensson B, et al. Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene. Exp Eye Res 2000;70:41-49.
-
(2000)
Exp Eye Res
, vol.70
, pp. 41-49
-
-
Corden, L.D.1
Swensson, O.2
Swensson, B.3
-
53
-
-
0032725152
-
Identification of two novel mutations in keratin 13 as the cause of white sponge naevus
-
Rugg E, Magee G, Wilson N, et al. Identification of two novel mutations in keratin 13 as the cause of white sponge naevus. Oral Dis 1999;5:321-324.
-
(1999)
Oral Dis
, vol.5
, pp. 321-324
-
-
Rugg, E.1
Magee, G.2
Wilson, N.3
-
54
-
-
0035725127
-
Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes
-
Cummins RE, Klingberg S, Wesley J, et al. Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes. J Invest Dermatol 2001;117:1103-1107.
-
(2001)
J Invest Dermatol
, vol.117
, pp. 1103-1107
-
-
Cummins, R.E.1
Klingberg, S.2
Wesley, J.3
-
55
-
-
0028850664
-
Keratin 14 gene mutations in patients with epidermolysis bullosa simplex
-
Chen H, Bonifas JM, Matsumura K, et al. Keratin 14 gene mutations in patients with epidermolysis bullosa simplex. J Invest Dermatol 1995;105:629-632.
-
(1995)
J Invest Dermatol
, vol.105
, pp. 629-632
-
-
Chen, H.1
Bonifas, J.M.2
Matsumura, K.3
-
56
-
-
0033228745
-
Mutation report: Identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2
-
Celebi JT, Tanzi EL, Yao YJ, et al. Mutation report: identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2. J Invest Dermatol 1999;113: 848-850.
-
(1999)
J Invest Dermatol
, vol.113
, pp. 848-850
-
-
Celebi, J.T.1
Tanzi, E.L.2
Yao, Y.J.3
-
57
-
-
9344267213
-
A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex
-
Nomura K, Shimizu H, Meng X, et al. A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex. J Invest Dermatol 1996;107:253-254.
-
(1996)
J Invest Dermatol
, vol.107
, pp. 253-254
-
-
Nomura, K.1
Shimizu, H.2
Meng, X.3
-
58
-
-
0030738735
-
A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma
-
Endo H, Hatamochi A, Shinkai H. A novel mutation of a leucine residue in coil 1A of keratin 9 in epidermolytic palmoplantar keratoderma. J Invest Dermatol 1997;109: 113-115.
-
(1997)
J Invest Dermatol
, vol.109
, pp. 113-115
-
-
Endo, H.1
Hatamochi, A.2
Shinkai, H.3
-
59
-
-
0034979402
-
A novel leucine to valine mutation in residue 7 of the helix initiation motif of keratin 10 leads to bullous congenital ichthyosiform erythroderma
-
Ishiko A, Akiyama M, Takizawa Y, et al. A novel leucine to valine mutation in residue 7 of the helix initiation motif of keratin 10 leads to bullous congenital ichthyosiform erythroderma. J Invest Dermatol 2001;116:991-992.
-
(2001)
J Invest Dermatol
, vol.116
, pp. 991-992
-
-
Ishiko, A.1
Akiyama, M.2
Takizawa, Y.3
-
60
-
-
0028180965
-
A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex
-
Yamanishi K, Matsuki M, Konishi K, Yasuno H. A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex. Hum Mol Genet 1994;3:1171-1172.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1171-1172
-
-
Yamanishi, K.1
Matsuki, M.2
Konishi, K.3
Yasuno, H.4
-
61
-
-
0034100522
-
Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma
-
Smith FJ, Fisher MP, Healy E, et al. Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma. Exp Dermatol 2000;9:170-177.
-
(2000)
Exp Dermatol
, vol.9
, pp. 170-177
-
-
Smith, F.J.1
Fisher, M.P.2
Healy, E.3
-
62
-
-
0028014675
-
Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis
-
Yang JM, Chipev CC, DiGiovanna JJ, et al. Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis. J Invest Dermatol 1994;102:17-23.
-
(1994)
J Invest Dermatol
, vol.102
, pp. 17-23
-
-
Yang, J.M.1
Chipev, C.C.2
Digiovanna, J.J.3
-
63
-
-
0032927404
-
An asparagine to threonine substitution in the 1 domain of keratin 1: A novel mutation that causes epidermolytic hyperkeratosis
-
Arin MJ, Longley MA, Kuster W, et al. An asparagine to threonine substitution in the 1 domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis. Exp Dermatol 1999;8:124-127.
-
(1999)
Exp Dermatol
, vol.8
, pp. 124-127
-
-
Arin, M.J.1
Longley, M.A.2
Kuster, W.3
-
64
-
-
0031738330
-
Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens
-
Smith FJ, Maingi C, Covello SP, et al. Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens. J Invest Dermatol 1998;111:817-821.
-
(1998)
J Invest Dermatol
, vol.111
, pp. 817-821
-
-
Smith, F.J.1
Maingi, C.2
Covello, S.P.3
-
65
-
-
0033632005
-
A novel asparagine-aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens
-
Takizawa Y, Akiyama M, Nagashima M, Shimizu H. A novel asparagine-aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens. J Invest Dermatol 2000;14:193-195.
-
(2000)
J Invest Dermatol
, vol.14
, pp. 193-195
-
-
Takizawa, Y.1
Akiyama, M.2
Nagashima, M.3
Shimizu, H.4
-
66
-
-
0034793372
-
New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens
-
Whittock NV, Ashton GH, Griffiths WA, et al. New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. Br Dermatol 2001;145:330-335.
-
(2001)
Br Dermatol
, vol.145
, pp. 330-335
-
-
Whittock, N.V.1
Ashton, G.H.2
Griffiths, W.A.3
-
67
-
-
0032948791
-
Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: Correlation between genotype and phenotype
-
Sorensen CB, Ladekjaer-Mikkelsen AS, Andresen BS, et al. Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. J Invest Dermatol 1999;112:184-190.
-
(1999)
J Invest Dermatol
, vol.112
, pp. 184-190
-
-
Sorensen, C.B.1
Ladekjaer-Mikkelsen, A.S.2
Andresen, B.S.3
-
68
-
-
0344286480
-
A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1
-
Smith FJ, McKenna KE, Irvine AD, et al. A mutation detection strategy for the human keratin 6A gene and novel missense mutations in two cases of pachyonychia congenita type 1. Exp Dermatol 1999;8:109-114.
-
(1999)
Exp Dermatol
, vol.8
, pp. 109-114
-
-
Smith, F.J.1
McKenna, K.E.2
Irvine, A.D.3
-
69
-
-
0012920802
-
Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: Implications for protein structure and clinical phenotype
-
Korge BP, Hamm H, Jury CS, et al. Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype. J Invest Dermatol 1999;113:607-612.
-
(1999)
J Invest Dermatol
, vol.113
, pp. 607-612
-
-
Korge, B.P.1
Hamm, H.2
Jury, C.S.3
-
70
-
-
0028359660
-
Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer
-
Torchard D, Blanchet-Bardon C, Serova O, et al. Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer. Nat Genet 1994;6:106-110.
-
(1994)
Nat Genet
, vol.6
, pp. 106-110
-
-
Torchard, D.1
Blanchet-Bardon, C.2
Serova, O.3
-
71
-
-
0028242804
-
Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK)
-
Reis A, Hennies HC, Langbein L, et al. Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). Nat Genet 1994;6:174-179.
-
(1994)
Nat Genet
, vol.6
, pp. 174-179
-
-
Reis, A.1
Hennies, H.C.2
Langbein, L.3
-
72
-
-
0028019682
-
Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis
-
Bonifas JM, Matsumura K, Chen MA, et al. Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis. J Invest Dermatol 1994;103:474-477.
-
(1994)
J Invest Dermatol
, vol.103
, pp. 474-477
-
-
Bonifas, J.M.1
Matsumura, K.2
Chen, M.A.3
-
73
-
-
0027958473
-
Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis
-
Chipev CC, Yang JM, DiGiovanna JJ, et al. Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis. Am J Hum Genet 1994;54:179-190.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 179-190
-
-
Chipev, C.C.1
Yang, J.M.2
Digiovanna, J.J.3
-
74
-
-
0035000519
-
A novel mutation in the keratin 13 gene causing oral white sponge nevus
-
Terrinoni A, Rugg EL, Lane EB, et al. A novel mutation in the keratin 13 gene causing oral white sponge nevus. J Dent Res 2001;80:919-923.
-
(2001)
J Dent Res
, vol.80
, pp. 919-923
-
-
Terrinoni, A.1
Rugg, E.L.2
Lane, E.B.3
-
75
-
-
0028864458
-
Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families
-
Shamsher MK, Navsaria HA, Stevens HP, et al. Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families. Hum Mol Genet 1995;4:1875-1881.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1875-1881
-
-
Shamsher, M.K.1
Navsaria, H.A.2
Stevens, H.P.3
-
76
-
-
0028842339
-
Keratin 16 and keratin 17 mutations cause pachyonychia congenita
-
McLean WH, Rugg EL, Lunny DP, et al. Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nat Genet 1995;9:273-278.
-
(1995)
Nat Genet
, vol.9
, pp. 273-278
-
-
McLean, W.H.1
Rugg, E.L.2
Lunny, D.P.3
-
77
-
-
8044227806
-
Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex
-
Smith FJ, Corden LD, Rugg EL, et al. Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex. J Invest Dermatol 1997;108:220-223.
-
(1997)
J Invest Dermatol
, vol.108
, pp. 220-223
-
-
Smith, F.J.1
Corden, L.D.2
Rugg, E.L.3
-
78
-
-
0037387857
-
Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations
-
Schuilenga-Hut PH, Vlies P, Jonkman MF, et al. Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations. Hum Mutat 2003;21:447.
-
(2003)
Hum Mutat
, vol.21
, pp. 447
-
-
Schuilenga-Hut, P.H.1
Vlies, P.2
Jonkman, M.F.3
-
79
-
-
0027315176
-
Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Kobner type of epidermolysis bullosa simplex
-
Dong W, Ryynanen M, Uitto J. Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Kobner type of epidermolysis bullosa simplex. Hum Mutat 1993;2:94-102.
-
(1993)
Hum Mutat
, vol.2
, pp. 94-102
-
-
Dong, W.1
Ryynanen, M.2
Uitto, J.3
-
80
-
-
0036299482
-
Novel KRT14 mutation in a Taiwanese patient with epidermolysis bullosa simplex (Kobner type)
-
Chao SC, Yang MH, Lee SF. Novel KRT14 mutation in a Taiwanese patient with epidermolysis bullosa simplex (Kobner type). J Formos Med Assoc 2002;101:287-290.
-
(2002)
J Formos Med Assoc
, vol.101
, pp. 287-290
-
-
Chao, S.C.1
Yang, M.H.2
Lee, S.F.3
-
81
-
-
17344362372
-
Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy
-
Nishida K, Honma Y, Dota A, et al. Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy. Am J Hum Genet 1997;61:1268-1275.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 1268-1275
-
-
Nishida, K.1
Honma, Y.2
Dota, A.3
-
82
-
-
0034003401
-
Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis
-
Hut PH, v d Vlies P, Jonkman MF, et al. Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis. J Invest Dermatol 2000;114:616-619.
-
(2000)
J Invest Dermatol
, vol.114
, pp. 616-619
-
-
Hut, P.H.1
Vlies, V.D.P.2
Jonkman, M.F.3
-
83
-
-
0037386726
-
Epidermolysis bullosa simplex in Israel: Clinical and genetic features
-
Ciubotaru D, Bergman R, Baty D, et al. Epidermolysis bullosa simplex in Israel: clinical and genetic features. Arch Dermatol 2003;139:498-505. (Erratum in: Arch Dermatol. 2003;139: 1084.)
-
(2003)
Arch Dermatol
, vol.139
, pp. 498-505
-
-
Ciubotaru, D.1
Bergman, R.2
Baty, D.3
-
84
-
-
0347568693
-
Erratum
-
Ciubotaru D, Bergman R, Baty D, et al. Epidermolysis bullosa simplex in Israel: clinical and genetic features. Arch Dermatol 2003;139:498-505. (Erratum in: Arch Dermatol. 2003;139: 1084.)
-
(2003)
Arch Dermatol
, vol.139
, pp. 1084
-
-
-
85
-
-
0026781694
-
Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis
-
Rothnagel JA, Dominey AM, Dempsey LD, et al. Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. Science 1992:257:1128-1130.
-
(1992)
Science
, vol.257
, pp. 1128-1130
-
-
Rothnagel, J.A.1
Dominey, A.M.2
Dempsey, L.D.3
-
86
-
-
0031056978
-
A new keratin 2e mutation in ichthyosis bullosa of Siemens
-
Jones DO, Watts C, Mills C, et al. A new keratin 2e mutation in ichthyosis bullosa of Siemens. J Invest Dermatol 1997;108: 354-356.
-
(1997)
J Invest Dermatol
, vol.108
, pp. 354-356
-
-
Jones, D.O.1
Watts, C.2
Mills, C.3
-
87
-
-
0023853921
-
The CpG dinucleotide and human genetic disease
-
Cooper DN, Youssoufian H. The CpG dinucleotide and human genetic disease. Hum Genet 1988;78:151-155.
-
(1988)
Hum Genet
, vol.78
, pp. 151-155
-
-
Cooper, D.N.1
Youssoufian, H.2
-
88
-
-
0028172696
-
A functional "knockout" of human keratin 14
-
Rugg EL, McLean WH, Lane EB, et al. A functional "knockout" of human keratin 14. Genes Dev 1994;8:2563-2573.
-
(1994)
Genes Dev
, vol.8
, pp. 2563-2573
-
-
Rugg, E.L.1
McLean, W.H.2
Lane, E.B.3
-
89
-
-
10344262023
-
Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex
-
Jonkman MF, Heeres K, Pas HH, et al. Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex. J Invest Dermatol 1996;107:764-769.
-
(1996)
J Invest Dermatol
, vol.107
, pp. 764-769
-
-
Jonkman, M.F.1
Heeres, K.2
Pas, H.H.3
-
90
-
-
0033793829
-
Coiled-coil trigger motifs in the 1B and 2B rod domain segments are required for the stability of keratin intermediate filaments
-
Wu KC, Bryan JT, Morasso MI, et al. Coiled-coil trigger motifs in the 1B and 2B rod domain segments are required for the stability of keratin intermediate filaments. Mol Biol Cell 2000; 11:3539-3558.
-
(2000)
Mol Biol Cell
, vol.11
, pp. 3539-3558
-
-
Wu, K.C.1
Bryan, J.T.2
Morasso, M.I.3
-
91
-
-
0030474645
-
The cytoskeleton and disease: Genetic disorders of intermediate filaments
-
Fuchs E. The cytoskeleton and disease: genetic disorders of intermediate filaments. Annu Rev Genet 1996;30: 197-231.
-
(1996)
Annu Rev Genet
, vol.30
, pp. 197-231
-
-
Fuchs, E.1
-
92
-
-
0033555523
-
Molecular parameters of type IV alpha-internexin and type IV-type III alpha-internexin-vimentin copolymer intermediate filaments
-
Steinert PM, Marekov LN, Parry DA. Molecular parameters of type IV alpha-internexin and type IV-type III alpha-internexin-vimentin copolymer intermediate filaments. J Biol Chem 1999; 274:1657-1666.
-
(1999)
J Biol Chem
, vol.274
, pp. 1657-1666
-
-
Steinert, P.M.1
Marekov, L.N.2
Parry, D.A.3
|