ArticleAmerican journal of human genetics2019
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.
Article in American journal of human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 60 citations in OpenAlex.
- Modeling patient variants of Cnot1 and Cdc42bpb results in distinct forms of congenital diaphragmatic hernia in mice.Human molecular genetics · 2026Article
- Further delineation of the phenotype and genotype in a newly identified PAN2-related disorder.Journal of human genetics · 2026Article
- Identification of the ACTB p.Ser348Leu de novo variant in individuals with syndromic neonatal diabetes.EBioMedicine · 2026Article
- Modeling patient variants ofbioRxiv : the preprint server for biology · 2026Article
- The CCR4-NOT complex: a multifaceted sensor of molecular signals instructing eukaryotic mRNA translation and stability.Nucleic acids research · 2025Review
- Complete Pancreatic Agenesis Presenting With Neonatal Diabetes and Exocrine Insufficiency: A Case Report.Cureus · 2025Article
- Global perspectives on monogenic forms of diabetes.Diabetologia · 2025Review
- Using Whole Exome Sequencing to Identify Genetic Causes of Neurodevelopmental Disorders in a Cohort of 11 Patients: A Single Center Experience.International journal of molecular sciences · 2025Article
- Neonatal diabetes mellitus around the world: Update 2024.Journal of diabetes investigation · 2024Review
- Mapping novel QTL and fine mapping of previously identified QTL associated with glucose tolerance using the collaborative cross mice.Mammalian genome : official journal of the International Mammalian Genome Society · 2024Article
- Pancreas agenesis and fetal growth: a semi-quantitative analysis.Endocrine connections · 2024Review
- Primate-specific ZNF808 is essential for pancreatic development in humans.Nature genetics · 2023Article
- Inferring regulators of cell identity in the human adult pancreas.NAR genomics and bioinformatics · 2023Article
- Diverse targets of SMN2-directed splicing-modulating small molecule therapeutics for spinal muscular atrophy.Nucleic acids research · 2023Article
- Quantitative Image Processing for Three-Dimensional Episcopic Images of Biological Structures: Current State and Future Directions.Biomedicines · 2023Review
- Monogenic diabetes.Nature reviews. Disease primers · 2023Review
- The human CNOT1-CNOT10-CNOT11 complex forms a structural platform for protein-protein interactions.Cell reports · 2023Article
- Cyclopia in a newborn rhesus macaque born to a dam infected with SIV and receiving antiretroviral therapy during pregnancy.Current trends in immunology · 2023Article
- ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents.Pediatric diabetes · 2022Article
- Brain Organization and Human Diseases.Cells · 2022Review
Corrections and comments
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Authors and funding
23 authors at 9 institutions in 5 countries.
Funding
Abstract
We report a recurrent CNOT1 de novo missense mutation, GenBank: NM_016284.4; c.1603C>T (p.Arg535Cys), resulting in a syndrome of pancreatic agenesis and abnormal forebrain development in three individuals and a similar phenotype in mice. CNOT1 is a transcriptional repressor that has been suggested as being critical for maintaining embryonic stem cells in a pluripotent state. These findings suggest that CNOT1 plays a critical role in pancreatic and neurological development and describe a novel genetic syndrome of pancreatic agenesis and holoprosencephaly.
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