Genetic and clinical mosaicism in a type of epidermal nevus.
暂无分享,去创建一个
E. Fuchs | Qian-chun Yu | A. Paller | A. Syder | G. Tadini | Q. Yu | Y. Chan | E. Hutton | Q. C. Yu | Yiu-mo Chan | Elizabeth Hutton
[1] E. Fuchs,et al. Intermediate filaments and disease: mutations that cripple cell strength , 1994, The Journal of cell biology.
[2] E. Fuchs,et al. Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity. , 1994, The Journal of clinical investigation.
[3] S. Bale,et al. Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis. , 1994, American journal of human genetics.
[4] H. Kerl,et al. Melanotic macules following Blaschko's lines in McCune‐Albright syndrome , 1994, The British journal of dermatology.
[5] S. Bale,et al. Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis. , 1994, The Journal of investigative dermatology.
[6] D. Roop,et al. Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing. , 1994, The Journal of investigative dermatology.
[7] E. Lane,et al. Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE). , 1994, The Journal of investigative dermatology.
[8] D. Hohl,et al. A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis. , 1993, Human molecular genetics.
[9] A. Letai,et al. Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex. , 1993, Proceedings of the National Academy of Sciences of the United States of America.
[10] Elaine Fuchs,et al. The genetic basis of epidermolytic hyperkeratosis: A disorder of differentiation-specific epidermal keratin genes , 1992, Cell.
[11] S. Bale,et al. A leucine→proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis , 1992, Cell.
[12] D Hohl,et al. Mutations in the Rod Domains of Keratins 1 and 10 in Epidermolytic Hyperkeratosis , 1992, Science.
[13] E. Fuchs,et al. Transgenic mice expressing a mutant keratin 10 gene reveal the likely genetic basis for epidermolytic hyperkeratosis. , 1992, Proceedings of the National Academy of Sciences of the United States of America.
[14] C. Amos,et al. Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q , 1992, Nature Genetics.
[15] E. Fuchs,et al. Of mice and men: Genetic skin diseases of keratin , 1992, Cell.
[16] C. Francomano,et al. Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. , 1992, Proceedings of the National Academy of Sciences of the United States of America.
[17] E. Lane,et al. A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering , 1992, Nature.
[18] Alana L. Rothman,et al. Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities. , 1991, Science.
[19] Elaine Fuchs,et al. Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses , 1991, Cell.
[20] E. Fuchs,et al. Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease , 1991, Cell.
[21] E. Fuchs,et al. Deletions in epidermal keratins leading to alterations in filament organization in vivo and in intermediate filament assembly in vitro , 1990, The Journal of cell biology.
[22] E. Gershon,et al. Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis. , 1990, Proceedings of the National Academy of Sciences of the United States of America.
[23] R. Caputo,et al. Epidermolytic hyperkeratosis: generalized form in children from parents with systematized linear form , 1990, The British journal of dermatology.
[24] E. Kawasaki. Amplification of RNA , 1990 .
[25] E. Fuchs,et al. Expression of mutant keratin cDNAs in epithelial cells reveals possible mechanisms for initiation and assembly of intermediate filaments , 1989, The Journal of cell biology.
[26] E. Fuchs,et al. Use of monospecific antisera and cRNA probes to localize the major changes in keratin expression during normal and abnormal epidermal differentiation , 1988, The Journal of cell biology.
[27] P. Chomczyński,et al. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. , 1987, Analytical biochemistry.
[28] I. Anton‐Lamprecht. Genetically induced abnormalities of epidermal differentiation and ultrastructure in ichthyoses and epidermolyses: pathogenesis, heterogeneity, fetal manifestation, and prenatal diagnosis. , 1983, The Journal of investigative dermatology.
[29] F. Sanger,et al. DNA sequencing with chain-terminating inhibitors. , 1977, Proceedings of the National Academy of Sciences of the United States of America.
[30] H. Green,et al. Seria cultivation of strains of human epidemal keratinocytes: the formation keratinizin colonies from single cell is , 1975, Cell.
[31] L. P. Barker,et al. Bullous congenital ichthyosiform erythroderma. , 1953, A.M.A. archives of dermatology and syphilology.