ReviewActa dermato-venereologica2009
Progress in heritable skin diseases: translational implications of mutation analysis and prospects of molecular therapies*.
Review in Acta dermato-venereologica, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
10 citing papers in PubMed, 30 citations in OpenAlex.
- Next-generation sequencing for mutation detection in heritable skin diseases: the paradigm of pseudoxanthoma elasticum.The Journal of investigative dermatology · 2015Article
- Self-inactivating MLV vectors have a reduced genotoxic profile in human epidermal keratinocytes.Gene therapy · 2013Article
- Animal models of skin disease for drug discovery.Expert opinion on drug discovery · 2013Review
- Molecular therapeutics for heritable skin diseases.The Journal of investigative dermatology · 2012Review
- Zebrafish: a model system to study heritable skin diseases.The Journal of investigative dermatology · 2011Article
- Genetic analyses of integrin signaling.Cold Spring Harbor perspectives in biology · 2011Review
- Integrins and extracellular matrix in mechanotransduction.Cold Spring Harbor perspectives in biology · 2010Review
- Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms.The Journal of investigative dermatology · 2010Article
- Epidermolysis bullosa with pyloric atresia.Dermatologic clinics · 2010Review
- Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa.Dermatologic clinics · 2010Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
Epidermolysis bullosa, a group of blistering disorders, serves as the paradigm of the tremendous progress made in understanding the molecular genetics of heritable skin diseases. Mutations in 10 distinct genes have been disclosed in the classic forms of epidermolysis bullosa, and the level of expression of the mutated genes within the cutaneous basement membrane zone, the types and combinations of mutations and their consequences at the mRNA and protein levels, when placed in the context of the individual's genetic background and exposure to environmental trauma, all determine the subtype and the phenotypic severity in each case. The translational implications of mutation analysis include improved diagnosis and subclassification, refined genetic counseling of families at risk, and development of DNA-based pre natal and preimplantation genetic diagnosis. The prospects of molecular therapies for epidermolysis bullosa include further development of strategies for gene therapy, protein replacement therapy and cell-based therapies, including stem cell therapy and bone marrow transfer. Collectively, advances in the molecular genetics of heritable skin diseases clearly emphasize the value of basic research for improved diagnostics and patient care for genetic skin diseases.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.