ArticleAmerican journal of human genetics1991
Mapping of epidermolysis bullosa simplex mutation to chromosome 12.
Article in American journal of human genetics, 1991. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 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
11 citing papers in PubMed, 57 citations in OpenAlex.
- Targeted NGS in Diagnostics of Genodermatosis Characterized by the Epidermolysis Bullosa Symptom Complex in 268 Russian Children.International journal of molecular sciences · 2022Article
- The molecular basis for inherited bullous diseases.Journal of molecular medicine (Berlin, Germany) · 1996Review
- Aplasia cutis congenita with chromosome 12q abnormality.Archives of disease in childhood. Fetal and neonatal edition · 1995Article
- Keratin 14 gene point mutation in the Köbner and Dowling-Meara types of epidermolysis bullosa simplex as detected by the PASA method.Archives of dermatological research · 1995Article
- Epidermolysis bullosa: hereditary skin fragility diseases as paradigms in cell biology.Archives of dermatological research · 1994Review
- The genetic basis of Weber-Cockayne epidermolysis bullosa simplex.Proceedings of the National Academy of Sciences of the United States of America · 1993Article
- Is filaggrin really a filament-aggregating protein in vivo?Archives of dermatological research · 1993Article
- Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). Genetic linkage to chromosome 12q in the region of the type II keratin gene cluster.The Journal of clinical investigation · 1993Article
- Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases.The Journal of clinical investigation · 1992Review
- Linkage of epidermolysis bullosa simplex to keratin gene loci.Journal of medical genetics · 1992Article
- Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils.The Journal of clinical investigation · 1992Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Epidermolysis bullosa simplex (EBS) is a dominantly inherited genodermatosis characterized by intraepidermal blister formation. Recent reports have suggested that EBS mutations may relate to keratin abnormalities. In this study, we conducted RFLP analyses to test the hypothesis that EBS is linked to one of the keratin gene clusters on chromosome 12 or chromosome 17. Although these keratin gene loci are not defined by RFLPs, several mapped RFLPs in the same chromosomal regions could be tested for linkage. A large EBS family with 14 affected and 12 unaffected individuals in three generations was analyzed for RFLP inheritance. Within this family there was no evidence for linkage of the EBS mutation to markers on chromosome 17q. However, there was evidence for close linkage to D12S17 located on chromosome 12q, with a maximum LOD score of 5.55 at theta = 0. Mapping of this mutation to chromosome 12 defines an EBS locus distinct from both EBS1 (Ogna) and EBS2 (Koebner), which are on chromosomes 8 and 1, respectively. Further mapping will determine whether this EBS locus on chromosome 12 resides within the keratin gene cluster at 12q11-q13.
Indexed as
Identifiers
1718160PMC1683248W79608562What 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.