ReviewDevelopmental dynamics : an official publication of the American Association of Anatomists2011
cis-regulatory mutations are a genetic cause of human limb malformations.
Review in Developmental dynamics : an official publication of the American Association of Anatomists, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 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.
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Who cites it
47 citing papers in PubMed, 79 citations in OpenAlex.
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- Uniform processing and analysis of IGVF massively parallel reporter assay data with MPRAsnakeflow.bioRxiv : the preprint server for biology · 2025Article
- The RSPO2 gene is associated with bilateral anterior amelia in Chihuahuas.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- Enhancing Our Understanding of Cell Types, Differentiation, and Disease Through Enhancers: An Interview with César Daniel Meléndez-Ramírez, MS.The Yale journal of biology and medicine · 2023Article
- Review
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- Recommendations for clinical interpretation of variants found in non-coding regions of the genome.Genome medicine · 2022Article
- Enhancer-gene specificity in development and disease.Development (Cambridge, England) · 2022Review
- CNPY4 inhibits the Hedgehog pathway by modulating membrane sterol lipids.Nature communications · 2022Article
- North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants.Investigative ophthalmology & visual science · 2021Article
- Deletion of CTCF sites in the SHH locus alters enhancer-promoter interactions and leads to acheiropodia.Nature communications · 2021Article
- Atlas of Musculoskeletal Stem Cells with the Soft and Hard Tissue Differentiation Architecture.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2020Article
- Modulating gene regulation to treat genetic disorders.Nature reviews. Drug discovery · 2020Review
- Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants.Cell · 2020Article
- Predicting the effects of SNPs on transcription factor binding affinity.Bioinformatics (Oxford, England) · 2020Article
- Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants.European journal of human genetics : EJHG · 2019Article
- A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- The developmental and genetic basis of 'clubfoot' in the peroneal muscular atrophy mutant mouse.Development (Cambridge, England) · 2018Article
- Zone of Polarizing Activity Regulatory Sequence Mutations/Duplications with Preaxial Polydactyly and Longitudinal Preaxial Ray Deficiency in the Phenotype: A Review of Human Cases, Animal Models, and Insights Regarding the Pathogenesis.BioMed research international · 2018Review
- Variant Interpretation: Functional Assays to the Rescue.American journal of human genetics · 2017Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
The underlying mutations that cause human limb malformations are often difficult to determine, particularly for limb malformations that occur as isolated traits. Evidence from a variety of studies shows that cis-regulatory mutations, specifically in enhancers, can lead to some of these isolated limb malformations. Here, we provide a review of human limb malformations that have been shown to be caused by enhancer mutations and propose that cis-regulatory mutations will continue to be identified as the cause of additional human malformations as our understanding of regulatory sequences improves.
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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.