Access the full text.
Sign up today, get DeepDyve free for 14 days.
N Ku, S. Michie, R. Soetikno, E. Resurreccion, R. Broome, R. Oshima, M. Omary (1996)
Susceptibility to hepatotoxicity in transgenic mice that express a dominant-negative human keratin 18 mutant.The Journal of clinical investigation, 98 4
P. Coulombe, M. Hutton, Anthony Letal, Adelaide Hebert, A. Paller, E. Fuchs (1991)
Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analysesCell, 66
V. Alexeev, O. Igoucheva, A. Domashenko, G. Cotsarelis, K. Yoon (2000)
Localized in vivo genotypic and phenotypic correction of the albino mutation in skin by RNA-DNA oligonucleotideNature Biotechnology, 18
P. Bowden, J. Haley, A. Kansky, J. Rothnagel, David Jones, R. Turner (1995)
Mutation of a type II keratin gene (K6a) in pachyonychia congenitaNature Genetics, 10
P. Wong, E. Colucci-Guyon, Kenzo Takahashi, Changhong Gu, C. Babinet, P. Coulombe (2000)
Introducing a Null Mutation in the Mouse K6α and K6β Genes Reveals Their Essential Structural Role in the Oral MucosaThe Journal of Cell Biology, 150
A. Ishida‐Yamamoto, J. McGrath, S. Chapman, I. Leigh, E. Lane, R. Eady (1991)
Epidermolysis bullosa simplex (Dowling-Meara type) is a genetic disease characterized by an abnormal keratin-filament network involving keratins K5 and K14.The Journal of investigative dermatology, 97 6
Frances Smith, L. Corden, E. Rugg, R. Ratnavel, I. Leigh, C. Moss, M. Tidman, D. Hohl, M. Huber, L. Kunkeler, C. Munro, E. Lane, W. McLean (1997)
Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex.The Journal of investigative dermatology, 108 2
(2003)
Chemical chaperone - mediated suppression of phenotype in epidermolysis bullosa simplex keratinocytes
D. Ciubotaru, R. Bergman, D. Baty, M. Indelman, E. Pfendner, Danny Petronius, Hannah Moualem, M. Kanaan, D. Amitai, W. McLean, J. Uitto, E. Sprecher (2003)
Epidermolysis bullosa simplex in Israel: clinical and genetic features.Archives of dermatology, 139 4
K. Yasukawa, D. Sawamura, J. McMillan, Hideki Nakamura, H. Shimizu (2002)
Dominant and Recessive Compound Heterozygous Mutations in Epidermolysis Bullosa Simplex Demonstrate the Role of the Stutter Region in Keratin Intermediate Filament Assembly*The Journal of Biological Chemistry, 277
H. Winter, M. Rogers, L. Langbein, H. Stevens, I. Leigh, C. Labrèze, S. Roul, A. Taieb, T. Krieg, J. Schweizer (1997)
Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrixNature Genetics, 16
E. Rugg, W. McLean, E. Lane, R. Pitera, J McMillan, P Dopping-Hepenstal, H Navsaria, I. Leigh, R Eady (1994)
A functional "knockout" of human keratin 14.Genes & development, 8 21
D. Torchard, C. Blanchet‐Bardon, O. Serova, L. Langbein, S. Narod, N. Janin, A. Goguel, A. Bernheim, W. Franke, G. Lenoir, J. Feunteun (1994)
PEPing up preimplantation testingNature Genetics, 6
Alain Hovnanian, E. Pollack, L. Hilal, A. Rochat, Catherine Prost, Yann Barrandon, M. Goossens (1993)
A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplexNature Genetics, 3
Ku (2001)
10.1056/NEJM200105243442103N Engl J Med, 344
M. D'alessandro, David Russell, S. Morley, A. Davies, E. Lane (2002)
Keratin mutations of epidermolysis bullosa simplex alter the kinetics of stress response to osmotic shockJournal of Cell Science, 115
T. Cao, M. Longley, Xiao-Jing Wang, D. Roop (2001)
An Inducible Mouse Model for Epidermolysis Bullosa SimplexThe Journal of Cell Biology, 152
F. Smith, R. Eady, I. Leigh, J. McMillan, E. Rugg, D. Kelsell, S. Bryant, N. Spurr, J. Geddes, G. Kirtschig, G. Milana, A. Bono, K. Owaribe, G. Wiche, L. Pulkkinen, J. Uitto, W. McLean, E. Lane (1996)
Plectin deficiency results in muscular dystrophy with epidermolysis bullosaNature Genetics, 13
S. Morley, S. Dundas, J. James, T. Gupta, R. Brown, C. Sexton, H. Navsaria, I. Leigh, E. Lane (1995)
Temperature sensitivity of the keratin cytoskeleton and delayed spreading of keratinocyte lines derived from EBS patients.Journal of cell science, 108 ( Pt 11)
Hesse (2001)
10.1242/jcs.114.14.2569J Cell Sci, 114
G. Richard, V. Laurenzi, B. Didona, S. Bale, J. Compton (1995)
Keratin 13 point mutation underlies the hereditary mucosal epithelia disorder white sponge nevusNature Genetics, 11
A. Irvine, W. Mclean (2003)
The molecular genetics of the genodermatoses: progress to date and future directionsBritish Journal of Dermatology, 148
H. Winter, M. Rogers, M. Gebhardt, U. Wollina, L. Boxall, D. Chitayat, R. Babul‐Hirji, H. Stevens, A. Zlotogorski, J. Schweizer (1997)
A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrixHuman Genetics, 101
E. Sprecher, G. Yosipovitch, R. Bergman, Dan Ciubutaro, M. Indelman, E. Pfendner, Leok Goh, C. Miller, J. Uitto, G. Richard (2003)
Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5.The Journal of investigative dermatology, 120 4
D. Owens, N. Wilson, A. Hill, E. Rugg, R. Porter, A. Hutcheson, R. Quinlan, D. Heel, M. Parkes, D. Jewell, Simon Campbell, S. Ghosh, J. Satsangi, E. Lane (2004)
Human keratin 8 mutations that disturb filament assembly observed in inflammatory bowel disease patientsJournal of Cell Science, 117
R. Porter, E. Lane (2003)
Phenotypes, genotypes and their contribution to understanding keratin function.Trends in genetics : TIG, 19 5
N. Ku, J. Darling, S. Krams, C. Esquivel, E. Keeffe, R. Sibley, Young Lee, T. Wright, M. Omary (2003)
Keratin 8 and 18 mutations are risk factors for developing liver disease of multiple etiologiesProceedings of the National Academy of Sciences of the United States of America, 100
L. Langbein, M. Rogers, H. Winter, Silke Praetzel, Ulrike Beckhaus, H. Rackwitz, J. Schweizer (1999)
The Catalog of Human Hair KeratinsThe Journal of Biological Chemistry, 274
JM Bonifas, Alana Rothman, Ervin Epstein (1991)
Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities.Science, 254 5035
Y. Chan, I. Anton‐Lamprecht, Qian-chun Yu, Andreas Jackel, B. Zabel, J. Ernst, E. Fuchs (1994)
A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein.Genes & development, 8 21
Jai Uttam, Elizabeth Hutton, Pierre Coulombe, Ingrun Anton-Lamprecht, Qian-Chun Yu, Tobias Gedde-Dahl, Jo-David Fine, Elaine Fuchs (1996)
The genetic basis of epidermolysis bullosa simplex with mottled pigmentation.Proceedings of the National Academy of Sciences of the United States of America, 93 17
Sayda Elbashir, Javier Martínez, Agnieszka Patkaniowska, Winfried Lendeckel, T. Tuschl (2001)
Functional anatomy of siRNAs for mediating efficient RNAi in Drosophila melanogaster embryo lysateThe EMBO Journal, 20
A. Irvine, W. McLean (1999)
Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype–genotype correlationBritish Journal of Dermatology, 140
C. Chipev, B. Korge, N. Markova, S. Bale, J. DiGiovanna, J. Compton, P. Steinert (1992)
A leucine→proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosisCell, 70
A. Paller, A. Syder, Yiu-mo Chan, Qian-chun Yu, Elizabeth Hutton, G. Tadini, E. Fuchs (1994)
Genetic and clinical mosaicism in a type of epidermal nevus.The New England journal of medicine, 331 21
M. Jonkman, H. Pas, Miranda Nijenhuis, G. Kloosterhuis, G. Steege (2002)
Deletion of a cytoplasmic domain of integrin beta4 causes epidermolysis bullosa simplex.The Journal of investigative dermatology, 119 6
B. Peters, Jutta Kirfel, Heinrich Büssow, Miguel Vidal, Thomas Magin (2001)
Complete cytolysis and neonatal lethality in keratin 5 knockout mice reveal its fundamental role in skin integrity and in epidermolysis bullosa simplex.Molecular biology of the cell, 12 6
E. Norgett, S. Hatsell, L. Carvajal-Huerta, Juan-Carlos Cabezas, J. Common, P. Purkis, N. Whittock, I. Leigh, H. Stevens, D. Kelsell (2000)
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.Human molecular genetics, 9 18
Jian Cheng, A. Syder, Qian-chun Yu, Anthony Letal, A. Paller, E. Fuchs (1992)
The genetic basis of epidermolytic hyperkeratosis: A disorder of differentiation-specific epidermal keratin genesCell, 70
R. Vassar, P. Coulombe, L. Degenstein, K. Albers, E. Fuchs (1991)
Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin diseaseCell, 64
Mirentxu Santos, J. Paramio, A. Bravo, Á. Ramírez, J. Jorcano (2002)
The Expression of Keratin K10 in the Basal Layer of the Epidermis Inhibits Cell Proliferation and Prevents Skin Tumorigenesis*The Journal of Biological Chemistry, 277
M. Hesse, T. Franz, Y. Tamai, M. Taketo, T. Magin (2000)
Targeted deletion of keratins 18 and 19 leads to trophoblast fragility and early embryonic lethalityThe EMBO Journal, 19
N. Ku, R. Gish, T. Wright, M. Omary (2001)
Keratin 8 mutations in patients with cryptogenic liver disease.The New England journal of medicine, 344 21
A. Irvine, L. Corden, O. Swensson, B. Swensson, Jonathan Moore, D. Frazer, Frances Smith, R. Knowlton, E. Christophers, R. Rochels, J. Uitto, W. McLean (1997)
Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophyNature Genetics, 16
Langbein (2001)
10.1074/jbc.M103305200J Biol Chem, 276
G. Dallinger, M. Puttaraju, L. Mitchell, Kim Yancey, Carole Yee, A. Klausegger, H. Hintner, Johann Bauer (2003)
Development of spliceosome‐mediated RNA trans‐splicing (SMaRT™) for the correction of inherited skin diseasesExperimental Dermatology, 12
M. Tidman, R. Eady, I. Leigh, D. Macdonald (1988)
Keratin expression in epidermolysis bullosa simplex (Dowling-Meara).Acta dermato-venereologica, 68 1
J. DiGiovanna, S. Bale (1994)
Epidermolytic hyperkeratosis: applied molecular genetics.The Journal of investigative dermatology, 102 3
B. Bader, W. Franke (1990)
Cell type-specific and efficient synthesis of human cytokeratin 19 in transgenic mice.Differentiation; research in biological diversity, 45 2
M. Hatzfeld, K. Weber (1991)
Modulation of keratin intermediate filament assembly by single amino acid exchanges in the consensus sequence at the C-terminal end of the rod domain.Journal of cell science, 99 ( Pt 2)
P. Steinert (1990)
The two-chain coiled-coil molecule of native epidermal keratin intermediate filaments is a type I-type II heterodimer.The Journal of biological chemistry, 265 15
F. Smith, M. Jonkman, H. Goor, C. Coleman, S. Covello, J. Uitto, W. McLean (1998)
A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2.Human molecular genetics, 7 7
W. Mclean, F. Smith, A. Cassidy (2005)
Insights into genotype-phenotype correlation in pachyonychia congenita from the human intermediate filament mutation database.The journal of investigative dermatology. Symposium proceedings, 10 1
Kashani-Sabet (2002)
10.1046/j.1523-1747.2002.19642.xJ Investig Dermatol Symp Proc, 7
C. Bawden, Clive McLaughlan, George Rogers, A. Nesci (2001)
A unique type I keratin intermediate filament gene family is abundantly expressed in the inner root sheaths of sheep and human hair follicles.The Journal of investigative dermatology, 116 1
A. Terrinoni, V. Laurenzi, E. Candi, G. Melino, P. Puddu, B. Didona, Frances Smith, W. McLean (2000)
A mutation in the V1 domain of K16 is responsible for unilateral palmoplantar verrucous nevus.The Journal of investigative dermatology, 114 6
P. Steinert (1993)
Structure, function, and dynamics of keratin intermediate filaments.The Journal of investigative dermatology, 100 6
Hélène Baribault, J. Price, K. Miyai, R. Oshima (1993)
Mid-gestational lethality in mice lacking keratin 8.Genes & development, 7 7A
P. Wood, D. Baty, E. Lane, W. Mclean (2003)
Long-range polymerase chain reaction for specific full-length amplification of the human keratin 14 gene and novel keratin 14 mutations in epidermolysis bullosa simplex patients.The Journal of investigative dermatology, 120 3
T Cao, M Longley, X Wang, D Roop (2001)
An inducible mouse model for epidermolysis bullosa simplex. Implications for gene therapy, 152
N. Penneys (1996)
Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevus
L. Langbein, M. Rogers, Silke Praetzel, H. Winter, J. Schweizer (2003)
K6irs1, K6irs2, K6irs3, and K6irs4 represent the inner-root-sheath-specific type II epithelial keratins of the human hair follicle.The Journal of investigative dermatology, 120 4
E. Lane, E. Rugg, H. Navsaria, I. Leigh, A. Heagerty, A. Ishida‐Yamamoto, R. Eady (1992)
A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blisteringNature, 356
H. Horn, M. Tidman (2000)
The clinical spectrum of epidermolysis bullosa simplexBritish Journal of Dermatology, 142
E. Rugg, W. Mclean, W. Allison, D. Lunny, R. Macleod, D. Felix, E. Lane, C. Munro (1995)
A mutation in the mucosal keratin K4 is associated with oral white sponge nevusNature Genetics, 11
J. Conway, D. Parry (1988)
Intermediate filament structure: 3. Analysis of sequence homologiesInternational Journal of Biological Macromolecules, 10
A. Persidis (1997)
Ribozyme therapeuticsNature Biotechnology, 15
H. Fischer, N. Fukuda, Pascal Barbry, B. Illek, Claudio Sartori, M. Matthay (2001)
Partial restoration of defective chloride conductance in DeltaF508 CF mice by trimethylamine oxide.American journal of physiology. Lung cellular and molecular physiology, 281 1
D. Armstrong, K. Mckenna, P. Purkis, K. Green, R. Eady, I. Leigh, A. Hughes (1999)
Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma.Human molecular genetics, 8 1
Michael Hesse, T. Magin, Klaus Weber (2001)
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.Journal of cell science, 114 Pt 14
S. Strelkov, H. Herrmann, U. Aebi (2003)
Molecular architecture of intermediate filamentsBioEssays, 25
M. Shamsher, H. Navsaria, H. Stevens, R. Ratnavel, P. Purkis, D. Kelsell, W. McLean, L. Cook, W. Griffiths, S. Gschmeissner (1995)
Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families.Human molecular genetics, 4 10
M. Huber, M. Floeth, L. Borradori, H. Schäcke, E. Rugg, E. Lane, E. Frenk, D. Hohl, L. Bruckner-Tuderman (2002)
Deletion of the cytoplasmatic domain of BP180/collagen XVII causes a phenotype with predominant features of epidermolysis bullosa simplex.The Journal of investigative dermatology, 118 1
S. Hatsell, R. Eady, L. Wennerstrand, P. Dopping-Hepenstal, I. Leigh, C. Munro, D. Kelsell (2001)
Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds.The Journal of investigative dermatology, 116 4
F. Smith (2003)
The Molecular Genetics of Keratin DisordersAmerican Journal of Clinical Dermatology, 4
D. Koss-Harnes, B. Høyheim, I. Anton‐Lamprecht, Aud Gjesti, Randi Jørgensen, F. Jahnsen, B. Olaisen, G. Wiche, T. Gedde-dahl (2002)
A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations.The Journal of investigative dermatology, 118 1
Stéphane Chavanas, L. Pulkkinen, Y. Gache, Frances Smith, W. McLean, Jouni Uitto, J. Ortonne, G. Meneguzzi (1996)
A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy.The Journal of clinical investigation, 98 10
W. Mclean, E. Rugg, D. Lunny, S. Morley, E. Lane, O. Swensson, P. Dopping-Hepenstal, W. Griffiths, R. Eady, C. Higgins, H. Navsaria, I. Leigh, T. Strachan, L. Kunkeler, C. Munro (1995)
Keratin 16 and keratin 17 mutations cause pachyonychia congenitaNature Genetics, 9
H. Kremer, P. Zeeuwen, W. McLean, E. Mariman, E. Lane, C. Kerkhof, H. Ropers, P. Steijlen (1994)
Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene.The Journal of investigative dermatology, 103 3
Chaline Brown, L. Hong-Brown, William Welch (1997)
Correcting temperature-sensitive protein folding defects.The Journal of clinical investigation, 99 6
Diseases caused by mutations in gene encoding keratin intermediate filaments (IF) are characterized by a loss of structural integrity in the cells expressing those keratins in vivo. This is manifested as cell fragility, compensatory epidermal hyperkeratosis, and keratin filament aggregation in some affected tissues. Keratin disorders are a novel molecular category including quite different phenotypes such as epidermolysis bullosa simplex (EBS), bullous congenital ichthyosiform erthroderma (BCIE), pachyonychia congenital (PC), steatocystoma multiplex, ichthyosis bullosa of Siemens (IBS), and white sponge nevus (WSN) of the orogenital mucosa. © 2004 Wiley‐Liss, Inc.
American Journal of Medical Genetics Part A – Wiley
Published: Mar 15, 2005
Keywords: ; ; ; ;
Read and print from thousands of top scholarly journals.
Already have an account? Log in
Bookmark this article. You can see your Bookmarks on your DeepDyve Library.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Copy and paste the desired citation format or use the link below to download a file formatted for EndNote
Access the full text.
Sign up today, get DeepDyve free for 14 days.
All DeepDyve websites use cookies to improve your online experience. They were placed on your computer when you launched this website. You can change your cookie settings through your browser.