ArticleInternational journal of molecular sciences2019
Identification of a Potential Founder Effect of a Novel
Article in International journal of molecular sciences, 2019. 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, 28 citations in OpenAlex.
- WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.BMC medical genomics · 2023Pooled it
- Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia.BMC medical genomics · 2024Article
- Novel autosomal dominant TMC1 variants linked to hearing loss: insight into protein-lipid interactions.BMC medical genomics · 2023Article
- Allelic hierarchy for USH2A influences auditory and visual phenotypes in South Korean patients.Scientific reports · 2023Article
- Phenotypic and molecular basis of SIX1 variants linked to non-syndromic deafness and atypical branchio-otic syndrome in South Korea.Scientific reports · 2023Article
- Global Distribution of Founder Variants Associated with Non-Syndromic Hearing Impairment.Genes · 2023Review
- Novel homozygous variant in the PDZD7 gene in a family with nonsyndromic sensorineural hearing loss.BMC medical genomics · 2022Article
- The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.Human genetics · 2022Review
- Whole exome analysis of patients in Japan with hearing loss reveals high heterogeneity among responsible and novel candidate genes.Orphanet journal of rare diseases · 2022Article
- Deciphering the Molecular Interaction Between the Adhesion G Protein-Coupled Receptor ADGRV1 and its PDZ-Containing Regulator PDZD7.Frontiers in molecular biosciences · 2022Article
- A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss.BMC medical genomics · 2021Article
- Article
- Review of Genotype-Phenotype Correlations in Usher Syndrome.Ear and hearingReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
PDZD7, a PDZ domain-containing scaffold protein, is critical for the organization of Usher syndrome type 2 (USH2) interactome. Recently, biallelic PDZD7 variants have been associated with autosomal-recessive, non-syndromic hearing loss (ARNSHL). Indeed, we identified novel, likely pathogenic
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.