ArticleAmerican journal of human genetics2008
Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.
Article in American journal of human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 89 papers.
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Who cites it
89 citing papers in PubMed, 164 citations in OpenAlex.
- The dual fate of DYRK2 in cancer: balancing the light and dark side of tumorigenesis.Cancer metastasis reviews · 2026Review
- Editorial: Advances in DYRK1A syndrome: underlying mechanisms, disease models, and novel therapeutic approaches.Frontiers in neuroscience · 2026Article
- DYRK1A roles in human neural progenitors.Frontiers in neuroscience · 2025Article
- Article
- Novel splicing variant and gonadal mosaicism in DYRK1A gene identified by whole-genome sequencing in multiplex autism spectrum disorder families.Neurogenetics · 2024Article
- The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.American journal of human genetics · 2024Article
- Article
- Human cytomegalovirus (CMV) dysregulates neurodevelopmental pathways in cerebral organoids.Communications biology · 2024Article
- Functions of SRPK, CLK and DYRK kinases in stem cells, development, and human developmental disorders.FEBS letters · 2023Review
- Dose imbalance of DYRK1A kinase causes systemic progeroid status in Down syndrome by increasing the un-repaired DNA damage and reducing LaminB1 levels.EBioMedicine · 2023Article
- Identification of two novel and one rare mutation inFrontiers in genetics · 2023Article
- Article
- Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models.Biomedicines · 2022Article
- Cytogenomic Characterization of a Novel de novo Balanced Reciprocal Translocation t(1;12) by Genome Sequencing Leading to Fusion Gene Formation ofMolecular syndromology · 2022Article
- Impaired macroglial development and axonal conductivity contributes to the neuropathology of DYRK1A-related intellectual disability syndrome.Scientific reports · 2022Article
- Social motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments.European journal of human genetics : EJHG · 2022Article
- Prenatal diagnosis of 21 fetuses with balanced chromosomal abnormalities (BCAs) using whole-genome sequencing.Frontiers in genetics · 2022Article
- Review
- Novel DYRK1A Inhibitor Rescues Learning and Memory Deficits in a Mouse Model of Down Syndrome.Pharmaceuticals (Basel, Switzerland) · 2021Article
- Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
29 more citing papers are in PubMed but not listed here.
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12 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have identified and characterized two unrelated patients with prenatal onset of microcephaly, intrauterine growth retardation, feeding problems, developmental delay, and febrile seizures/epilepsy who both carry a de novo balanced translocation that truncates the DYRK1A gene at chromosome 21q22.2. DYRK1A belongs to the dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family, which is highly conserved throughout evolution. Given its localization in both the Down syndrome critical region and in the minimal region for partial monosomy 21, the gene has been studied intensively in animals and in humans, and DYRK1A has been proposed to be involved in the neurodevelopmental alterations associated with these syndromes. In the present study, we show that truncating mutations of DYRK1A result in a clinical phenotype including microcephaly.
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