ArticleMolecular genetics & genomic medicine2017
A mutation creating an upstream initiation codon in the
Article in Molecular genetics & genomic medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 36 citations in OpenAlex.
- Genome-wide detection of human 5' UTR variants that impact protein translation.American journal of human genetics · 2026Article
- The birth, death, and evolutionary compensation of uORFs in Drosophila.Nucleic acids research · 2026Article
- Article
- Upstream SOX9 deletion in a 46,XY girl with acampomelic campomelic dysplasia and absent minipuberty.Orphanet journal of rare diseases · 2025Article
- A human YEATS4 variant confers resistance to TST and IGRA conversion despite Mycobacterium tuberculosis exposure.Genome medicine · 2025Article
- MCTS2 and distinct eIF2D roles in uORF-dependent translation regulation revealed by in vitro re-initiation assays.The EMBO journal · 2025Article
- Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Novel start codons introduce novel coding sequences in the human genomes.Scientific reports · 2023Article
- Annotation of uORFs in the OMIM genes allows to reveal pathogenic variants in 5'UTRs.Nucleic acids research · 2023Article
- Hypomorphic and dominant-negative impact of truncated SOX9 dysregulates Hedgehog-Wnt signaling, causing campomelia.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Autosomal Recessive ACTG2-Related Visceral Myopathy in Brothers.JPGN reports · 2022Article
- Identification of deleterious single nucleotide polymorphism (SNP)s in the humanBiochemistry and biophysics reports · 2021Article
- Determinants of genome-wide distribution and evolution of uORFs in eukaryotes.Nature communications · 2021Article
- Detection of a 4 bp Mutation in the 3'UTR Region of GoatAnimals : an open access journal from MDPI · 2020Article
- A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency.Human mutation · 2019Article
- Characterization of a family mutation in the 5' untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia.Journal of human genetics · 2019Article
- Genome-wide maps of ribosomal occupancy provide insights into adaptive evolution and regulatory roles of uORFs during Drosophila development.PLoS biology · 2018Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCampomelic dysplasia (CD) is a semilethal developmental disorder caused by mutations in and around
methodsThis is a single case report on a patient with clinical and radiological features of ACD who has no mutation in the
resultsThe patient was found to have a de novo heterozygous mutation c.-185G>A in the
conclusionFindings support the notion that more mildly affected, surviving CD/ACD patients carry mutant
Indexed as
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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.