The morbid anatomy of the dermatologic genome: An update for the third millennium

Journal of Cutaneous Medicine and Surgery

Volumn 5, Issue 2, 2001, Pages 117-125

  Bale, S J ^a  

^a GENEDX   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BULLOUS SKIN DISEASE; DYSKERATOSIS; GENETIC ANALYSIS; GENODERMATOSIS; HUMAN; PIGMENT DISORDER; PRIORITY JOURNAL; REVIEW; SKIN APPENDAGE DISEASE;

EID: 0034949492     PISSN: 12034754     EISSN: None     Source Type: Journal    
DOI: 10.1007/bf02737865     Document Type: Review

References (31)

1. The morbid cutaneous anatomy of the human genome
2. X-linked ichthyosis: Increased blood cholesterol sulfate and electrophoretic mobility of low-density lipoprotein
3. Cloning of a cDNA for steroid sulfatase: Frequent occurrence of gene deletions in patients with Recessive X chromosome-linked ichthyosis
4. Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q
5. A leucine to proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis
6. Transgenic mice expressing a mutant keratin 10 gene reveal the likely genetic basis for epidermolytic hyperkeratosis
7. Xeroderma pigmentosum and the role of UV-induced DNA damage in skin cancer
8. The hedgehog signaling pathway and its role in basal cell carcinoma
9. Epidermolysis bullosa simplex: Evidence in two families for keratin gene abnormalities
10. The molecular biology of epidermolysis bullosa simplex
11. The molecular basis of the dystrophic forms of epidermolysis bullosa
12. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism
13. The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome
14. The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness
15. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome
16. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene
17. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein
18. Cloning of Tabby, the murine homolog of the human EDA gene: Evidence for a membrane-associated protein with a short collagenous domain
19. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia
20. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome
21. Pseudoxanthoma Elasticum: A satisfying sibling study
22. Pseudoxanthoma elasticum: Mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter
23. Uroporphyrinogen decarboxylase: Complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria
24. The Werner syndrome protein is a DNA helicase
25. The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH
26. Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene
27. Mutations in the gene encoding 3-beta-hydroxysteroid-delta-8, delta-7-isomerase cause X-linked dominant Conradi-Hunermann syndrome
28. Mutations in the HSDHL gene, encoding a 3-beta-hydrocysteroid dehydrogenase, cause CHILD syndrome