Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity

American Journal of Human Genetics

Volumn 69, Issue 1, 2001, Pages 216-222

  Krebsova A ^a   Kuster W ^a   Lestringant, G G ^a   Schulze, B ^a   Hinz, B ^a   Frossard, P M ^a   Reis, A ^a   Hennies, H C ^a  

^a MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE;

AFRICA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 14Q; CHROMOSOME 17P; CHROMOSOME 19P; CHROMOSOME 3P; CHROMOSOME MARKER; DISEASE SEVERITY; ERYTHEMA; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENOTYPE; GERMANY; HOMOZYGOSITY; HUMAN; ICHTHYOSIS; KERATINIZATION; KERATINOCYTE; PRIORITY JOURNAL; TURKEY (REPUBLIC); UNITED ARAB EMIRATES;

EID: 0034964624     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/321284     Document Type: Article

References (33)

1. Transglutaminases: Protein cross-linking enzymes in tissues and body fluids
2. Congenital recessive ichthyosis unlinked to loci for epidermal transglutaminases
3. Heterogeneity for multiple disease loci in linkage analysis
4. A physical map of 30,000 human genes
5. A comprehensive genetic map of the human genome based on 5,264 microsatellites
6. The epidermis: Genes on - Genes off
7. Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity
8. Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis
9. Genetic and immunohistochemical detection of mutations inactivating the keratinocyte transglutaminase in patients with lamellar ichthyosis
10. In vitro and rapid in situ transglutaminase assays for congenital ichthyoses - A comparative study
11. Mutations of keratinocyte transglutaminase in lamellar ichthyosis
12. Lamellar ichthyosis is genetically heterogeneous - Cases with normal keratinocyte transglutaminase
13. Cholecalciferol induces prostaglandin E2 biosynthesis and transglutaminase activity in human keratinocytes
14. Cholesterol sulfate activates transcription of transglutaminase 1 gene in normal human keratinocytes
15. Calpain inhibitors reduce the cornified cell envelope formation by inhibiting proteolytic processing of transglutaminase 1
16. Isopeptide bond formation in epidermis
17. Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis
18. Construction of multilocus genetic linkage maps in humans
19. Easy calculations of lod scores and genetic risks on small computers
20. Transglutaminases
21. Regulation of the transglutaminase 1 gene: Identification of DNA elements involved in its transcriptional control in tracheobronchial epithelial cells
22. Autosomal recessive lamellar ichthyosis: Identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity
23. Mapping of a second locus for lamellar ichthyosis to chromosome 2q33-35
24. Lamellar ichthyosis: Further narrowing, physical and expression mapping of the chromosome 2 candidate locus
25. Biochemistry of transglutaminases and cross-linking in the skin
26. Transcription regulatory elements of the first intron control human transglutaminase type 1 gene expression in epidermal keratinocytes
27. A novel in situ method for the detection of deficient transglutaminase activity in the skin
28. S100A11, S100A10, annexin 1, desmosomal proteins, small proline-rich proteins, plasminogen activator inhibitor-2, and involucrin are components of the cornified envelope of cultured human epidermal keratinocytes
29. Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis
30. Collodion baby and lamellar ichthyosis
31. Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2