ArticleNature genetics2011
Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans.
Article in Nature genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 169 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
169 citing papers in PubMed, 1 synthesis or guideline pooled it, 306 citations in OpenAlex.
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- MicroRNA Nobel Prize: Timely Recognition and High Anticipation of Future Products-A Prospective Analysis.International journal of molecular sciences · 2024Review
- MicroRNA and Rare Human Diseases.Genes · 2024Review
- Identification of novel genetic loci related to dromedary camel (Camelus dromedarius) morphometrics, biomechanics, and behavior by genome-wide association studies.BMC veterinary research · 2024Article
- Elucidation of how the Mir-23-27-24 cluster regulates development and aging.Experimental & molecular medicine · 2024Review
- Changes in Circulating MicroRNA Levels as Potential Indicators of Training Adaptation in Professional Volleyball Players.International journal of molecular sciences · 2024Article
- STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179.Nature genetics · 2024Article
- Noncoding RNAs in skeletal development and disorders.Biological research · 2024Review
- The function of miRNAs in the process of kidney development.Non-coding RNA research · 2023Review
- AGO2 silences mobile transposons in the nucleus of quiescent cells.Nature structural & molecular biology · 2023Article
109 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors at 11 institutions in 3 countries.
Funding
Abstract
MicroRNAs (miRNAs) are key regulators of gene expression in animals and plants. Studies in a variety of model organisms show that miRNAs modulate developmental processes. To our knowledge, the only hereditary condition known to be caused by a miRNA is a form of adult-onset non-syndromic deafness, and no miRNA mutation has yet been found to be responsible for any developmental defect in humans. Here we report the identification of germline hemizygous deletions of MIR17HG, encoding the miR-17∼92 polycistronic miRNA cluster, in individuals with microcephaly, short stature and digital abnormalities. We demonstrate that haploinsufficiency of miR-17∼92 is responsible for these developmental abnormalities by showing that mice harboring targeted deletion of the miR-17∼92 cluster phenocopy several key features of the affected humans. These findings identify a regulatory function for miR-17∼92 in growth and skeletal development and represent the first example of an miRNA gene responsible for a syndromic developmental defect in humans.
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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.