Focal activation of a mutant allele defines the role of stem cells in mosaic skin disorders

Journal of Cell Biology

Volumn 153, Issue 3, 2001, Pages 645-649

  Arin, Meral J ^a   Longley, Mary Ann ^a   Wang, Xiao Jing ^a   Roop, Dennis R ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Cre recombinase; Epidermolytic hyperkeratosis; Gene therapy; Keratins; Mosaic skin disease

Indexed keywords

CRE RECOMBINASE; KERATIN; CYTOKERATIN 10; INTEGRASE; KRT1 10 PROTEIN, MOUSE; KRT1-10 PROTEIN, MOUSE; KRT10 PROTEIN, HUMAN; MIFEPRISTONE; VIRUS PROTEIN;

ALLELISM; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL FUNCTION; CONTROLLED STUDY; GENE ACTIVATION; GENE MUTATION; GENE THERAPY; GENETIC MODEL; HYPERKERATOSIS; MOSAICISM; MOUSE; MOUSE STRAIN; NONHUMAN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; SKIN BIOPSY; SKIN DISEASE; SOMATIC CELL GENETICS; STEM CELL; ANIMAL; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; DISEASE MODEL; DRUG EFFECT; FEMALE; GENE TARGETING; GENETICS; HUMAN; METABOLISM; PATHOLOGY; PATHOPHYSIOLOGY; PHYSIOLOGY; POINT MUTATION; SKIN; TRANSGENIC MOUSE;

ANIMALIA;

ANIMALS; DISEASE MODELS, ANIMAL; FEMALE; GENE TARGETING; HUMANS; HYPERKERATOSIS, EPIDERMOLYTIC; INTEGRASES; KERATIN-10; KERATINS; MICE; MICE, TRANSGENIC; MIFEPRISTONE; MOSAICISM; POINT MUTATION; SKIN; STEM CELLS; VIRAL PROTEINS;

EID: 0035809167     PISSN: 00219525     EISSN: None     Source Type: Journal    
DOI: 10.1083/jcb.152.3.645     Document Type: Article

References (31)

1. Epidermolytic hyperkeratosis
2. Characterization of an inducible, epidermal-specific knockout system: Differential expression of lacZ in different Cre reporter mouse strains
3. A transgenic mouse model that recapitulates the clinical features of both neonatal and adult forms of the skin disease epidermolytic hyperkeratosis
4. Epidermolysis bullosa simplex: Evidence in two families for keratin gene abnormalities
5. Genetic manipulation of the mouse via gene targeting in embryonic stem cells
6. An inducible mouse model for epidermolysis bullosa simplex: Implications for gene therapy
7. The genetic basis of epidermolytic hyperkeratosis: A disorder of differentiation-specific epidermal keratin genes
8. A leucine-proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis
9. Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses
10. Ichthyosiform dermatoses
11. Diversity of cytokeratins. Differentiation specific expression of cytokeratin polypeptides in epithelial cells and tissues
12. Lethal genes surviving by mosaicism: A possible explanation for sporadic birth defects involving the skin
13. Mosaicism in human skin. Understanding the patterns and mechanisms
14. Selective involvement of keratins K1 and K10 in the cytoskeletal abnormality of epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma)
15. Segmental forms of autosomal dominant skin disorders: The puzzle of mosaicism
16. Regulation of Cre recombinase activity by the synthetic steroid RU 486
17. Organization of a type I keratin gene. Evidence for evolution of intermediate filaments from a common ancestral gene
18. The catalog of human cytokeratins: Patterns of expression in normal epithelia, tumors and cultured cells
19. Genetic and clinical mosaicism in a type of epidermal nevus
20. Selection of keratinocytes transduced with the multidrug resistance gene in an in vitro skin model presents a strategy for enhancing gene expression in vivo
21. Measurement of the transit time for cells through the epidermis and stratum corneum of the mouse and guinea-pig
22. Gene targeting in embryonic stem cells
23. Defects in the barrier
24. Synthetic peptides corresponding to keratin subunits elicit highly specific antibodies
25. Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis
26. A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis
27. Analysis, diagnosis, and molecular genetics of keratin disorders
28. Intermediate filament dynamics
29. Neonatal lethality and lymphopenia in mice with a homozygous disruption of the c-abl proto-oncogene
30. TGF alpha and v-fos cooperation in transgenic mouse epidermis induces aberrant keratinocyte differentiation and stable, autonomous papillomas
31. Delayed wound healing in keratin 6a knockout mice