Transgenic mice expressing a mutant form of loricrin reveal the molecular basis of the skin diseases, Vohwinkel syndrome and progressive symmetric erythrokeratoderma

Journal of Cell Biology

Volumn 151, Issue 2, 2000, Pages 401-412

  Suga, Yasushi ^a,b   Jarnik, Michal ^c,d   Attar, Paul S ^a   Longley, Mary A ^a   Bundman, Donnie ^a   Steven, Alasdair C ^c   Koch, Peter J ^a   Roop, Dennis R ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES   (United States)

^d FOX CHASE CANCER CENTER   (United States)

Author keywords

Erythrokeratoderma; Loricrin; Transgenic; Vohwinkel's syndrome

Indexed keywords

ENVELOPE PROTEIN; LORICRIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CELL DIFFERENTIATION; CONTROLLED STUDY; EPIDERMIS; GENE MUTATION; GENETIC DISORDER; HISTOLOGY; KERATINOCYTE; KERATODERMA HEREDITARIUM MUTILANS; KNOCKOUT MOUSE; MOUSE; NEWBORN; NONHUMAN; NUCLEAR LOCALIZATION SIGNAL; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROGRESSIVE SYMMETRIC ERYTHROKERATODERMA; PROTEIN EXPRESSION; SKIN DISEASE; SKIN FUNCTION; STRATUM CORNEUM; SYNDROME DELINEATION; TRANSGENIC MOUSE;

AMINO ACID SEQUENCE; ANIMALS; CELL COMPARTMENTATION; CELL MEMBRANE; DEAFNESS; FRAMESHIFT MUTATION; KERATOSIS; MEMBRANE PROTEINS; MICE; MICE, MUTANT STRAINS; MICE, TRANSGENIC; MOLECULAR SEQUENCE DATA; NUCLEAR LOCALIZATION SIGNALS; PHENOTYPE; PROTEIN TRANSPORT; SKIN; SKIN PHYSIOLOGY; SYNDROME;

EID: 0034675977     PISSN: 00219525     EISSN: None     Source Type: Journal    
DOI: 10.1083/jcb.151.2.401     Document Type: Article

References (27)

1. A novel insertional mutation in loricrin in Vohwinkel's keratoderma
2. Nuclear localization signals (NLS)
3. Variant of keratoderma hereditaria mutilans (Vohwinkel's syndrome). Treatment with orally administered isotretinoin
4. Nuclear targeting sequence - A consensus?
5. The proximal promoter of the mouse loricrin gene contains a functional AP-1 element and directs keratinocyte-specific but not differentiation-specific expression
6. Targeted overexpression of transforming growth factor alpha in the epidermis of transgenic mice elicits hyperplasia, hyperkeratosis, and spontaneous, squamous papillomas
7. Keratoderma hereditaria mutilans (Vohwinkel)
8. Characterization of human loricrin. Structure and function of a new class of epidermal cell envelope proteins
9. Loricrin immunoreactivity in human skin: Localization to specific granules (L-granules) in acrosyringia
10. The molecular pathology of progressive symmetric erythrokeratoderma: A frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope
11. Differential expression and cell envelope incorporation of small proline-rich protein 1 in different cornified epithelia
12. Lessons for loricrin-deficient mice: Compensatory mechanisms maintaining skin barrier function in the absence of a major cornified envelope protein
13. Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis
14. A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome
15. A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families
16. Defective stratum corneum and early neonatal death in mice lacking the gene for transglutaminase 1 (keratinocyte transglutaminase)
17. Identification of a major keratinocyte cell envelope protein, loricrin
18. Defects in the barrier
19. Synthetic peptides corresponding to keratin subunits elicit highly specific antibodies
20. Regulated expression of differentiation-associated keratins in cultured epidermal cells detected by monospecific antibodies to unique peptides of mouse epidermal keratins
21. The proteins elafin, filaggrin, keratin intermediate filaments, loricrin, and small proline-rich proteins 1 and 2 are isodipeptide cross-linked components of the human epidermal cornified cell envelope
22. Protein composition of cornified cell envelopes of epidermal keratinocytes
23. Biosynthetic pathways of filaggrin and loricrin - Two major proteins expressed by terminally differentiated epidermal keratinocytes
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25. Immunochemistry on ultrathin frozen sections
26. Identification of the nuclear and nucleolar localization signals of the protein p120
27. Keratoderma hereditaria mutilans