Trial reportHuman genetics2015
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.
Trial report in Human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 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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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
36 citing papers in PubMed, 62 citations in OpenAlex.
- Dysfunction of a SET3-like complex underlies a family of related neurological disorders.Nature communications · 2026Article
- Chromatinopathies: clinically overlapping disorders, revealing novel variants and their DNA methylation signatures.Clinical epigenetics · 2026Article
- KBG Syndrome: A Case Report and Longitudinal Assessment of Long-Acting Recombinant Human Growth Hormone Therapy.Clinical case reports · 2026Article
- KBG syndrome-associated protein ANKRD11 regulates SETD5 expression to modulate rRNA levels and translation.iScience · 2025Article
- ANKRD11 binding to cohesin suggests a connection between KBG syndrome and Cornelia de Lange syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search.Orphanet journal of rare diseases · 2024Review
- Functional investigation of a novelHeliyon · 2024Article
- Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.Epilepsia open · 2023Article
- Loss of ANCO1 Expression Regulates Chromatin Accessibility and Drives Progression of Early-Stage Triple-Negative Breast Cancer.International journal of molecular sciences · 2023Article
- ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.Human molecular genetics · 2023Article
- Natural history of KBG syndrome in a large European cohort.Human molecular genetics · 2022Article
- Expanding the Molecular Spectrum ofInternational journal of molecular sciences · 2022Article
- Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature.Journal of personalized medicine · 2022Article
- Cohesin: behind dynamic genome topology and gene expression reprogramming.Trends in cell biology · 2021Review
- Whole genome sequencing of 45 Japanese patients with intellectual disability.American journal of medical genetics. Part A · 2021Article
- Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study.Journal of clinical medicine · 2021Article
- Comprehensive analysis of clinical spectrum and genotype associations in Chinese and literature reported KBG syndrome.Translational pediatrics · 2021Article
- A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome.BMC medical genomics · 2021Article
- Case Report: Two Newly Diagnosed Patients With KBG Syndrome-Two Different Molecular Changes.Frontiers in pediatrics · 2021Article
- Whole-exome sequencing of ovarian cancer families uncovers putative predisposition genes.International journal of cancer · 2020Article
Corrections and comments
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Authors and funding
20 authors at 10 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in ANKRD11 have recently been reported to cause KBG syndrome, an autosomal dominant condition characterized by intellectual disability (ID), behavioral problems, and macrodontia. To understand the pathogenic mechanism that relates ANKRD11 mutations with the phenotype of KBG syndrome, we studied the cellular characteristics of wild-type ANKRD11 and the effects of mutations in humans and mice. We show that the abundance of wild-type ANKRD11 is tightly regulated during the cell cycle, and that the ANKRD11 C-terminus is required for the degradation of the protein. Analysis of 11 pathogenic ANKRD11 variants in humans, including six reported in this study, and one reported in the Ankrd11 (Yod/+) mouse, shows that all mutations affect the C-terminal regions and that the mutant proteins accumulate aberrantly. In silico analysis shows the presence of D-box sequences that are signals for proteasome degradation. We suggest that ANKRD11 C-terminus plays an important role in regulating the abundance of the protein, and a disturbance of the protein abundance due to the mutations leads to KBG syndrome.
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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.