ArticleThe Journal of investigative dermatology2015
A Deep-Intronic FERMT1 Mutation Causes Kindler Syndrome: An Explanation for Genetically Unsolved Cases.
Article in The Journal of investigative dermatology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.
- Clinical practice guidelines: Oral health care for children and adults living with epidermolysis bullosa.Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry · 2020Pooled it
- Whole transcriptome sequencing and ceRNA regulatory network in diabetic peripheral neuropathy.Scientific reports · 2026Article
- The power of next-generation-sequencing: A game-changer with limitations.Journal of the European Academy of Dermatology and Venereology : JEADV · 2025Article
- What's Wrong in a Jump? Prediction and Validation of Splice Site Variants.Methods and protocols · 2021Review
- In silico identification of pseudo-exon activation events in personal genome and transcriptome data.RNA biology · 2021Article
- Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.Frontiers in genetics · 2021Article
- FERMT1 promotes gastric cancer progression by activating the NF-κB pathway and predicts poor prognosis.Cancer biology & therapy · 2020Article
- Research Techniques Made Simple: Whole-Transcriptome Sequencing by RNA-Seq for Diagnosis of Monogenic Disorders.The Journal of investigative dermatology · 2020Review
- Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa.The British journal of dermatology · 2020Article
- Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients.Orphanet journal of rare diseases · 2019Article
- Advances in understanding the molecular basis of skin fragility.F1000Research · 2018Review
- Deep intronic mutations and human disease.Human genetics · 2017Review
- Inherited epidermolysis bullosa: update on the clinical and genetic aspects.Anais brasileiros de dermatologiaReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PubMed holds no abstract for this paper.
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.