thymine 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 |
|---|---|
| Hamada, T | 1 |
| Fukuda, S | 1 |
| Ishii, N | 1 |
| Sakaguchi, S | 1 |
| Ishikawa, T | 1 |
| Abe, T | 1 |
| Yasumoto, S | 1 |
| Hashimoto, T | 1 |
| Nakano, H | 1 |
| Sawamura, D | 1 |
| Gardella, R | 1 |
| Barlati, S | 1 |
| Zoppi, N | 1 |
| Tadini, G | 1 |
| Colombi, M | 1 |
2 other studies available for thymine and Epidermolysis Bullosa Dystrophica
| Article | Year |
|---|---|
Genotype-phenotype correlation in non-Hallopeau-Siemens recessive dystrophic epidermolysis bullosa: the splice site mutation c.6216+5G > T in the COL7A1 gene results in aberrant and normal splicings.
Topics: Adult; Alternative Splicing; Codon, Nonsense; Collagen Type VII; DNA Mutational Analysis; Epidermoly | 2008 |
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 |