Novel mutations of the transglutaminase 1 gene in lamellar ichthyosis

Journal of Investigative Dermatology

Volumn 117, Issue 2, 2001, Pages 214-218

  Yang, Jun Mo ^a,b   Ahn, Kwang Sung ^b   Cho, Mi Ook ^b   Yoneda, Kozo ^c   Lee, Cha Hui ^b   Lee, Joo Heung ^a   Lee, Eil Soo ^a   Candi, Eleonora ^d   Melino, Gerry ^d   Ahvazi, Bijan ^e   Steinert, Peter M ^e  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Samsung Medical Center   (South Korea)

^c AKITA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d National Institutes of Health ^*  (Italy)

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

Author keywords

Lamellar ichthyosis; Mutations; Transglutaminase 1 gene

Indexed keywords

PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE 1; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE COURSE; DNA SEQUENCE; ENZYME ACTIVITY; FEMALE; GENE DELETION; GENE INSERTION; GENE MUTATION; HUMAN; KERATINOCYTE; LAMELLAR ICHTHYOSIS; MALE; MISSENSE MUTATION; MOLECULAR MODEL; NORTHERN BLOTTING; PREDICTION; PRIORITY JOURNAL;

EID: 0035721723     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.0022-202X.2001.01429.x     Document Type: Article

References (29)

1. Congenital recessive ichthyosis unlinked to loci for epidermal transglutaminase
2. The Protein Data Bank: A computer-based archival file for macromolecular structures
3. Prenatal exclusion of lamellar ichthyosis based on identification of two new mutations in the transglutaminase 1 gene
4. Transglutaminase 1 mutations in lamellar ichthyosis
5. Transglutaminases
6. Transglutaminases: Multifunctional crosslinking enzymes that stabilize tissues
7. Genetic and immunohistochemical detection of mutations inactivating the keratinocyte transglutaminase in patients with lamella ichthyosis
8. Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis
9. Mutations of keratinocyte transglutaminase in lamellar ichthyosis
10. Consequences of seven novel mutations on the expression and structure of keratinocyte transglutaminase
11. Improved methods for building protein models in electron density maps and the location of errors in these models
12. Structure and organization of the human transglutaminase 1 gene
13. The structure of the transglutaminase 1 enzyme
14. MOLSCRIPT: A program to produce both detailed and schematic plots of protein structures
15. Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: Private and recurrent mutations in isolated population
16. Retinoic acid-induced transglutaminase in mouse epidermal cells is distinct from epidermal transglutaminase
17. Assays for transglutaminases in cell death
18. Raster3D, version 2.0. A program for photorealistic molecular graphics
19. Autosomal recessive lamellar ichthyosis: Identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity
20. Mapping of a second locus for lamellar ichthyosis to chromosome 2q33- 35
21. Three novel point mutations in the keratinocyte transglutaminse (TGK) gene in lamellar ichthyosis: Significance for mutant transcript level, TGK immunodetection and activity
22. Serial cultivation of strains of human epidermal keratinocyte: The formation of keratinizing colonies from single cell
23. Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q
24. Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis
25. Prenatal diagnosis of lamellar ichthyosis by direct mutational analysis of the keratinocyte transglutaminase gene
26. Splice-site mutation in TGM1 in congenital recessive ichthyosis in American families: Molecular, genetic, genealogic, and clinical studies
27. The complexity and redundancy of epithelial barrier function
28. Heterogeneity in autosomal recessive ichthyosis: Clinical and biochemical differentiation of lamellar ichthyosis and non-bullous congenital ichthyosiform erythroderma
29. Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis