cytosine has been researched along with Epidermolysis Bullosa Dystrophica in 2 studies
Epidermolysis Bullosa Dystrophica: Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Hereditary dystrophic epidermolysis bullosa (DEB) refers to a group of clinically heterogeneous skin blistering diseases due to mutations in the collagen type VII gene (COL7A1)." | 1.31 | A -96C-->T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa. ( Barlati, S; Colombi, M; Gardella, R; Tadini, G; Zoppi, N, 2000) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 2 (100.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Goto, M | 1 |
| Sawamura, D | 1 |
| Nishie, W | 1 |
| Sakai, K | 1 |
| McMillan, JR | 1 |
| Akiyama, M | 1 |
| Shimizu, H | 1 |
| Gardella, R | 1 |
| Barlati, S | 1 |
| Zoppi, N | 1 |
| Tadini, G | 1 |
| Colombi, M | 1 |
2 other studies available for cytosine and Epidermolysis Bullosa Dystrophica
| Article | Year |
|---|---|
Targeted skipping of a single exon harboring a premature termination codon mutation: implications and potential for gene correction therapy for selective dystrophic epidermolysis bullosa patients.
Topics: Animals; Cell Line; Codon, Nonsense; Collagen Type VII; Cytosine; Epidermolysis Bullosa Dystrophica; | 2006 |
A -96C-->T mutation in the promoter of the collagen type VII gene (COL7A1) abolishing transcription in a patient affected by recessive dystrophic epidermolysis bullosa.
Topics: Cells, Cultured; Child; Collagen; Cytosine; Epidermolysis Bullosa Dystrophica; Genes, Recessive; Het | 2000 |