DOI: 10.1086/302278. Cyclic Ichthyosis with Epidermolytic Hyperkeratosis: A Phenotype Conferred by Mutations in the 2B Domain of Keratin K1

Cyclic Ichthyosis with Epidermolytic Hyperkeratosis: A Phenotype Conferred by Mutations in the 2B Domain of Keratin K1

10.1086/302278

Crossref journal-article

Elsevier BV

The American Journal of Human Genetics (78)

Bibliography

Sybert, V. P., Francis, J. S., Corden, L. D., Smith, L. T., Weaver, M., Stephens, K., & McLean, W. H. I. (1999). Cyclic Ichthyosis with Epidermolytic Hyperkeratosis: A Phenotype Conferred by Mutations in the 2B Domain of Keratin K1. The American Journal of Human Genetics, 64(3), 732â738.

Authors 7

Virginia P. Sybert (first)
Julie S. Francis (additional)
Laura D. Corden (additional)
Lynne T. Smith (additional)
Molly Weaver (additional)
Karen Stephens (additional)
W. H. Irwin McLean (additional)

References 27 Referenced 52

10.1111/1523-1747.ep12395570 / J Invest Dermatol / Mutations of keratin 9 in two families with palmoplantar epidermolytic hyperkeratosis by Bonifas (1994)
10.1126/science.1720261 / Science / Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities by Bonifas (1991)
10.1016/0092-8674(92)90314-3 / Cell / The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes by Cheng (1992)
10.1016/0092-8674(92)90315-4 / Cell / A leucine-proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis by Chipev (1992)
10.1016/0014-4827(92)90412-2 / Exp Cell Res / Characterization of human cytokeratin 2, an epidermal cytoskeleton protein synthesized late during differentiation by Collin (1992)
10.1111/j.1600-0625.1996.tb00133.x / Exp Dermatol / Human keratin diseases: hereditary fragility of specific epithelial tissues by Corden (1996)
10.1016/0092-8674(91)90051-Y / Cell / Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analysis by Coulombe (1991)
10.1001/archderm.1994.01690080092014 / Arch Dermatol / Clinical heterogeneity in epidermolytic hyperkeratosis by DiGiovanna (1994)
{'key': '10.1086/302278_bib9', 'first-page': 'A38', 'article-title': 'Two novel mutations in K1 codon 479 cause a unique form of ichthyosis', 'volume': '59', 'author': 'Francis', 'year': '1996', 'journal-title': 'Am J Hum Genet Suppl'} / Am J Hum Genet Suppl / Two novel mutations in K1 codon 479 cause a unique form of ichthyosis by Francis (1996)
10.1111/1523-1747.ep12466219 / J Invest Dermatol / Arrested epidermal morphogenesis in three newborn infants with a fatal genetic disorder (restrictive dermopathy) by Holbrook (1987)
10.1038/ng0697-184 / Nat Genet / Mutations in cornea-specific keratins K3 or K12 cause Meesmann's corneal dystrophy by Irvine (1997)
10.1111/1523-1747.ep12286491 / J Invest Dermatol / A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma by Joh (1997)
10.1073/pnas.82.7.1896 / Proc Natl Acad Sci USA / Structure of a gene for the human epidermal 67-kDa keratin by Johnson (1985)
10.1111/1523-1747.ep12412771 / J Invest Dermatol / A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma by Kimonis (1994)
{'key': '10.1086/302278_bib15', 'series-title': 'PCR protocols: a guide to methods and applications', 'first-page': '288', 'article-title': 'Genetic prediction of hemophilia A', 'author': 'Kogan', 'year': '1989'} / PCR protocols: a guide to methods and applications / Genetic prediction of hemophilia A by Kogan (1989)
10.1038/356244a0 / Nature / A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering by Lane (1992)
10.1111/1523-1747.ep12394307 / J Invest Dermatol / Ichthyosis bullosa of Siemens—a disease involving keratin 2e by McLean (1994)
10.1038/ng0395-273 / Nat Genet / Keratin 16 and keratin 17 mutations cause pachyonychia congenita by McLean (1995)
{'key': '10.1086/302278_bib20', 'first-page': '562', 'article-title': 'Epidermolytic palmoplantar hyperkeratosis with polycyclic psoriasiform plaques (EHK/PPP) resulting from a novel mutation in the keratin 1 gene', 'volume': '108', 'author': 'Michael', 'year': '1997', 'journal-title': 'J Invest Dermatol'} / J Invest Dermatol / Epidermolytic palmoplantar hyperkeratosis with polycyclic psoriasiform plaques (EHK/PPP) resulting from a novel mutation in the keratin 1 gene by Michael (1997)
{'key': '10.1086/302278_bib21', 'first-page': '779', 'article-title': 'Intermediate filaments', 'volume': '1', 'author': 'Quinlan', 'year': '1994', 'journal-title': 'Protein Profiles'} / Protein Profiles / Intermediate filaments by Quinlan (1994)
{'key': '10.1086/302278_bib22', 'first-page': 'A52', 'article-title': 'Mutations in a novel connexin gene (GJB3) cause erythrokeratodermia variablis', 'volume': '63', 'author': 'Richard', 'year': '1998', 'journal-title': 'Am J Hum Genet Suppl'} / Am J Hum Genet Suppl / Mutations in a novel connexin gene (GJB3) cause erythrokeratodermia variablis by Richard (1998)
10.1126/science.257.5073.1128 / Science / Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis by Rothnagel (1992)
10.1038/ng0894-485 / Nat Genet / Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens by Rothnagel (1994)
10.1006/bbrc.1993.2555 / Biochem Biophys Res Commun / Concurrence between the molecular overlap regions in keratin intermediate filaments and the locations of keratin mutations in genodermatoses by Steinert (1993)
10.1111/1523-1747.ep12286486 / J Invest Dermatol / Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients by Stephens (1997)
10.1007/BF00451466 / Hum Genet / Further evidence for localization of the gene of erythrokeratodermia variabilis by van der Schroeff (1988)
10.1111/1523-1747.ep12371726 / J Invest Dermatol / Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE) by McLean (1994)

Dates

Type	When
Created	23 years, 1 month ago (July 26, 2002, 10:47 a.m.)
Deposited	6 years, 4 months ago (April 11, 2019, 9:23 a.m.)
Indexed	3 months, 2 weeks ago (May 17, 2025, 9:43 a.m.)
Issued	26 years, 6 months ago (March 1, 1999)
Published	26 years, 6 months ago (March 1, 1999)
Published Print	26 years, 6 months ago (March 1, 1999)

Funders 0

None

BibTeX

@article{Sybert_1999, title={Cyclic Ichthyosis with Epidermolytic Hyperkeratosis: A Phenotype Conferred by Mutations in the 2B Domain of Keratin K1}, volume={64}, ISSN={0002-9297}, url={http://dx.doi.org/10.1086/302278}, DOI={10.1086/302278}, number={3}, journal={The American Journal of Human Genetics}, publisher={Elsevier BV}, author={Sybert, Virginia P. and Francis, Julie S. and Corden, Laura D. and Smith, Lynne T. and Weaver, Molly and Stephens, Karen and McLean, W. H. Irwin}, year={1999}, month=mar, pages={732–738} }

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