Abstract
The revolutionary advances of molecular genetics have made it possible in recent years to map the genes and identify the gene products of numerous hereditary skin diseases. The number of newly recognized gene loci responsible for genodermatoses is increasing almost every week. In this review, the gene locations of approximately 200 genodermatoses, categorized into various nosological groups, are presented and their genes or gene products, if already known, are documented in a tabular form. In this way novel, etiologically oriented criteria of classification emerge. On the one hand, dissimilar phenotypes can be attributed to one single gene locus, and on the other hand some clinically uniform genodermatoses have to be assigned to a number of different gene loci. Moreover, this review shows for which phenotypes additional research is particularly needed because we know the gene loci but so far not the underlying genes or gene products.
| Translated title of the contribution | Mapping and molecular analysis of genodermatoses - An up-date |
|---|---|
| Language | German |
| Pages | 906-914 |
| Number of pages | 9 |
| Journal | Hautarzt |
| Volume | 51 |
| Issue number | 12 |
| DOIs | |
| Publication status | Published - 1 Dec 2000 |
| Externally published | Yes |
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Kartierung und molekulare analyse erblicher hautkrankheiten - Stand der forschung. / Küster, W.; Hennies, H. C.; Happle, R.
In: Hautarzt, Vol. 51, No. 12, 01.12.2000, p. 906-914.Research output: Contribution to journal › Review article
TY - JOUR
T1 - Kartierung und molekulare analyse erblicher hautkrankheiten - Stand der forschung
AU - Küster, W.
AU - Hennies, H. C.
AU - Happle, R.
PY - 2000/12/1
Y1 - 2000/12/1
N2 - The revolutionary advances of molecular genetics have made it possible in recent years to map the genes and identify the gene products of numerous hereditary skin diseases. The number of newly recognized gene loci responsible for genodermatoses is increasing almost every week. In this review, the gene locations of approximately 200 genodermatoses, categorized into various nosological groups, are presented and their genes or gene products, if already known, are documented in a tabular form. In this way novel, etiologically oriented criteria of classification emerge. On the one hand, dissimilar phenotypes can be attributed to one single gene locus, and on the other hand some clinically uniform genodermatoses have to be assigned to a number of different gene loci. Moreover, this review shows for which phenotypes additional research is particularly needed because we know the gene loci but so far not the underlying genes or gene products.
AB - The revolutionary advances of molecular genetics have made it possible in recent years to map the genes and identify the gene products of numerous hereditary skin diseases. The number of newly recognized gene loci responsible for genodermatoses is increasing almost every week. In this review, the gene locations of approximately 200 genodermatoses, categorized into various nosological groups, are presented and their genes or gene products, if already known, are documented in a tabular form. In this way novel, etiologically oriented criteria of classification emerge. On the one hand, dissimilar phenotypes can be attributed to one single gene locus, and on the other hand some clinically uniform genodermatoses have to be assigned to a number of different gene loci. Moreover, this review shows for which phenotypes additional research is particularly needed because we know the gene loci but so far not the underlying genes or gene products.
KW - Clinical genetics
KW - Gene mapping
KW - Genodermatoses
KW - Molecular analysis
UR - http://www.scopus.com/inward/record.url?scp=0034532920&partnerID=8YFLogxK
U2 - 10.1007/s001050051238
DO - 10.1007/s001050051238
M3 - Review article
VL - 51
SP - 906
EP - 914
JO - Hautarzt
T2 - Hautarzt
JF - Hautarzt
SN - 0017-8470
IS - 12
ER -