ArticleThe Journal of clinical investigation2020
Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development.
Article in The Journal of clinical investigation, 2020. 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
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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.
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Who cites it
11 citing papers in PubMed, 18 citations in OpenAlex.
- Article
- Mapping of chromatin architecture and enhancer-promoter interactions in the cochlea.Frontiers in molecular biosciences · 2025Article
- EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder.American journal of medical genetics. Part A · 2024Article
- Spectrum of genetic variants in bilateral sensorineural hearing loss.Frontiers in genetics · 2024Article
- Induced Pluripotent Stem Cells, a Stepping Stone to In Vitro Human Models of Hearing Loss.Cells · 2022Review
- The Genomics of Auditory Function and Disease.Annual review of genomics and human genetics · 2022Review
- Novel Targeted Therapeutic Strategies for Ewing Sarcoma.Cancers · 2022Review
- The noncoding genome and hearing loss.Human genetics · 2022Review
- Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease.Molecular genetics & genomic medicine · 2022Article
- Stem Cells and Gene Therapy in Progressive Hearing Loss: the State of the Art.Journal of the Association for Research in Otolaryngology : JARO · 2021Review
- Growth differentiation factor 6, a repressive target of EZH2, promotes the commitment of human embryonic stem cells to mesenchymal stem cells.Bone research · 2020Article
Corrections and comments
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Authors and funding
19 authors at 6 institutions in 3 countries.
Funding
Abstract
Molecular mechanisms governing the development of the mammalian cochlea, the hearing organ, remain largely unknown. Through genome sequencing in 3 subjects from 2 families with nonsyndromic cochlear aplasia, we identified homozygous 221-kb and 338-kb deletions in a noncoding region on chromosome 8 with an approximately 200-kb overlapping section. Genomic location of the overlapping deleted region started from approximately 350 kb downstream of GDF6, which codes for growth and differentiation factor 6. Otic lineage cells differentiated from induced pluripotent stem cells derived from an affected individual showed reduced expression of GDF6 compared with control cells. Knockout of Gdf6 in a mouse model resulted in cochlear aplasia, closely resembling the human phenotype. We conclude that GDF6 plays a necessary role in early cochlear development controlled by cis-regulatory elements located within an approximately 500-kb region of the genome in humans and that its disruption leads to deafness due to cochlear aplasia.
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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.