ArticleNature genetics2014
Mutations in ZBTB20 cause Primrose syndrome.
Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 1 of them a synthesis that pooled it.
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
53 citing papers in PubMed, 1 synthesis or guideline pooled it, 99 citations in OpenAlex.
- Genome-wide association study of seasonal affective disorder.Translational psychiatry · 2018Pooled it
- δ-catenin controls layer-specific transcriptional maturation of astrocytes via Zbtb20.bioRxiv : the preprint server for biology · 2026Article
- Across-breed analyses of genome-wide association studies for stature and mammary gland morphology in cattle reveal pleiotropic effects of the Friesian POLLED haplotype.Genetics, selection, evolution : GSE · 2026Article
- Simplifying causal gene identification in GWAS loci.PLoS genetics · 2026Article
- Erythropoietin alleviates syndrome-associated intellectual disability and autism-like behavior in Zbtb20-haploinsufficient Primrose syndrome mouse model.JCI insight · 2026Article
- De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder.American journal of medical genetics. Part A · 2026Article
- Prenatal Downregulation of CBThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- LATS1-modulated ZBTB20 perturbing cartilage matrix homeostasis contributes to early-stage osteoarthritis.Bone research · 2025Article
- Microdeletion 3q13.2q21.2 in a Patient Previously Diagnosed with MOMO Syndrome.Molecular syndromology · 2024Article
- TARGET-seq: Linking single-cell transcriptomics of human dopaminergic neurons with their target specificity.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Mutations in linker-2 of KLF1 impair expression of membrane transporters and cytoskeletal proteins causing hemolysis.Nature communications · 2024Article
- A NovelMolecular syndromology · 2024Article
- Genetic polymorphisms associated with adverse pregnancy outcomes in nulliparas.Scientific reports · 2024Article
- Craniofacial disorders and dysplasias: Molecular, clinical, and management perspectives.Bone reports · 2024Review
- Zinc Finger and BTB Domain-Containing 20: A Newly Emerging Player in Pathogenesis and Development of Human Cancers.Biomolecules · 2024Review
- Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder.Human genetics · 2024Article
- Review
- De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.American journal of medical genetics. Part A · 2024Article
- ZBTB20 is essential for cochlear maturation and hearing in mice.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Mitochondrial Dysfunction and Oxidative Stress in Hereditary Ectopic Calcification Diseases.International journal of molecular sciences · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
27 authors at 12 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primrose syndrome and 3q13.31 microdeletion syndrome are clinically related disorders characterized by tall stature, macrocephaly, intellectual disability, disturbed behavior and unusual facial features, with diabetes, deafness, progressive muscle wasting and ectopic calcifications specifically occurring in the former. We report that missense mutations in ZBTB20, residing within the 3q13.31 microdeletion syndrome critical region, underlie Primrose syndrome. This finding establishes a genetic link between these disorders and delineates the impact of ZBTB20 dysregulation on development, growth and metabolism.
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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.