Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
出版年份 2021 全文链接
标题
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
作者
关键词
-
出版物
GENETICS IN MEDICINE
Volume -, Issue -, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2021-08-03
DOI
10.1038/s41436-021-01263-1
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects
- (2020) Hala Nasser et al. JOURNAL OF MEDICAL GENETICS
- DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes
- (2020) Sanaa Choufani et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Loss of the KH1 domain of FMR1 in humans due to a synonymous variant causes global developmental retardation
- (2020) Nathalie Carion et al. GENE
- A novel de novo heterozygous DYRK1A mutation causes complete loss of DYRK1A function and developmental delay
- (2020) Kyu-Sun Lee et al. Scientific Reports
- Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions
- (2019) Erfan Aref-Eshghi et al. AMERICAN JOURNAL OF HUMAN GENETICS
- New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome
- (2019) Eric Chater-Diehl et al. BMC Medical Genomics
- DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract
- (2019) Alexandria T. M. Blackburn et al. GENETICS IN MEDICINE
- Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment
- (2019) Angélique Quartier et al. HUMAN MUTATION
- Impaired development of neocortical circuits contributes to the neurological alterations in DYRK1A haploinsufficiency syndrome
- (2019) Juan Arranz et al. NEUROBIOLOGY OF DISEASE
- Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation
- (2019) Chris Balak et al. AMERICAN JOURNAL OF HUMAN GENETICS
- PROBE: analysis and visualization of protein block-level evolution
- (2018) Arnaud Kress et al. BIOINFORMATICS
- Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder
- (2018) Angélique Quartier et al. BIOLOGICAL PSYCHIATRY
- Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency and autism
- (2018) Esti Wahyu Widowati et al. Biology Open
- DYRK1A interacts with histone acetyl transferase p300 and CBP and localizes to enhancers
- (2018) Shanshan Li et al. NUCLEIC ACIDS RESEARCH
- Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability
- (2018) Mattioli Francesca et al. HUMAN MOLECULAR GENETICS
- Autism-associated Dyrk1a truncation mutants impair neuronal dendritic and spine growth and interfere with postnatal cortical development
- (2017) T Dang et al. MOLECULAR PSYCHIATRY
- Clinical phenotype of ASD-associated DYRK1A haploinsufficiency
- (2017) Rachel K. Earl et al. Molecular Autism
- DYRK1A, a Dosage-Sensitive Gene Involved in Neurodevelopmental Disorders, Is a Target for Drug Development in Down Syndrome
- (2016) Arnaud Duchon et al. Frontiers in Behavioral Neuroscience
- A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders
- (2016) Andrea J. Gonzalez-Mantilla et al. JAMA Psychiatry
- DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies
- (2015) Jianling Ji et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
- (2015) Lucas M Bronicki et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- DYRK1A mutations in two unrelated patients
- (2015) Lyse Ruaud et al. European Journal of Medical Genetics
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
- (2015) B W M van Bon et al. MOLECULAR PSYCHIATRY
- NSD1 mutations generate a genome-wide DNA methylation signature
- (2015) S. Choufani et al. Nature Communications
- DYRK1A phoshorylates histone H3 to differentially regulate the binding of HP1 isoforms and antagonize HP1-mediated transcriptional repression
- (2014) S. M. Jang et al. EMBO REPORTS
- Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
- (2014) Claire Redin et al. JOURNAL OF MEDICAL GENETICS
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- TheDYRK1Agene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy
- (2012) Jean-Benoît Courcet et al. JOURNAL OF MEDICAL GENETICS
- Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
- (2012) B. J. O'Roak et al. SCIENCE
- MNB/DYRK1A as a multiple regulator of neuronal development
- (2010) Francisco J. Tejedor et al. FEBS Journal
- Jalview Version 2--a multiple sequence alignment editor and analysis workbench
- (2009) A. M. Waterhouse et al. BIOINFORMATICS
- DYRK1A interacts with the REST/NRSF-SWI/SNF chromatin remodelling complex to deregulate gene clusters involved in the neuronal phenotypic traits of Down syndrome
- (2009) Aude-Marie Lepagnol-Bestel et al. HUMAN MOLECULAR GENETICS
- Truncation of the Down Syndrome Candidate Gene DYRK1A in Two Unrelated Patients with Microcephaly
- (2008) Rikke S. Møller et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The spatio-temporal and subcellular expression of the candidate Down syndrome gene Mnb/Dyrk1A in the developing mouse brain suggests distinct sequential roles in neuronal development
- (2008) Barbara Hämmerle et al. EUROPEAN JOURNAL OF NEUROSCIENCE
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