Plos Genetics, ISSN 1553-7404, 10/2017, Volume 13, Issue 10, p. e1006864
Kleefstra syndrome, caused by haploinsufficiency of euchromatin histone methyltransferase 1 (EHMT1), is characterized by intellectual disability (ID), autism...
SUBTELOMERIC DELETION SYNDROME | MEMORY FORMATION | KLEEFSTRA SYNDROME | CONSTITUTIVE ANDROSTANE RECEPTOR | MOLECULAR CONVERGENCE | GENE-EXPRESSION | COMPASS FAMILY | DEVELOPMENTAL DELAY | ADULT DROSOPHILA-MELANOGASTER | NUCLEAR RECEPTOR | METHYLATION | MEMORY | GENETICS & HEREDITY | COURTSHIP | DROSOPHILA | DELETION | Cytoskeletal Proteins - genetics | Humans | Male | Craniofacial Abnormalities - physiopathology | Drosophila melanogaster - genetics | Intellectual Disability - genetics | Chromosomes, Human, Pair 9 - genetics | Heart Defects, Congenital - genetics | Neuronal Plasticity - genetics | Adult | Female | Child | Craniofacial Abnormalities - genetics | Chromosome Deletion | Autism Spectrum Disorder - genetics | Promoter Regions, Genetic | Histone-Lysine N-Methyltransferase - genetics | Gene Expression Regulation | Binding Sites - genetics | DNA-Binding Proteins - genetics | Nerve Tissue Proteins - genetics | Haploinsufficiency | Intellectual Disability - physiopathology | Animals | Histones - genetics | Adolescent | Heart Defects, Congenital - physiopathology | Drosophila Proteins - genetics | Mutation | Autism Spectrum Disorder - physiopathology | Physiological aspects | Histones | Methyltransferases | Mental retardation | Pervasive developmental disorders | Neurosciences | Transcription | Laboratories | Funding | Intellectual disabilities | Memory | Genes | Genomics | Disorders | Nervous system | Convergence | Euchromatin | Histone methyltransferase | Genetics | Life sciences | Bioinformatics | Protein families | Supervision | Medical research | Head | Developmental biology | Drosophila | Autism | Brain research | Plasticity (synaptic) | Cognition & reasoning | Insects | Short term memory | Binding sites
SUBTELOMERIC DELETION SYNDROME | MEMORY FORMATION | KLEEFSTRA SYNDROME | CONSTITUTIVE ANDROSTANE RECEPTOR | MOLECULAR CONVERGENCE | GENE-EXPRESSION | COMPASS FAMILY | DEVELOPMENTAL DELAY | ADULT DROSOPHILA-MELANOGASTER | NUCLEAR RECEPTOR | METHYLATION | MEMORY | GENETICS & HEREDITY | COURTSHIP | DROSOPHILA | DELETION | Cytoskeletal Proteins - genetics | Humans | Male | Craniofacial Abnormalities - physiopathology | Drosophila melanogaster - genetics | Intellectual Disability - genetics | Chromosomes, Human, Pair 9 - genetics | Heart Defects, Congenital - genetics | Neuronal Plasticity - genetics | Adult | Female | Child | Craniofacial Abnormalities - genetics | Chromosome Deletion | Autism Spectrum Disorder - genetics | Promoter Regions, Genetic | Histone-Lysine N-Methyltransferase - genetics | Gene Expression Regulation | Binding Sites - genetics | DNA-Binding Proteins - genetics | Nerve Tissue Proteins - genetics | Haploinsufficiency | Intellectual Disability - physiopathology | Animals | Histones - genetics | Adolescent | Heart Defects, Congenital - physiopathology | Drosophila Proteins - genetics | Mutation | Autism Spectrum Disorder - physiopathology | Physiological aspects | Histones | Methyltransferases | Mental retardation | Pervasive developmental disorders | Neurosciences | Transcription | Laboratories | Funding | Intellectual disabilities | Memory | Genes | Genomics | Disorders | Nervous system | Convergence | Euchromatin | Histone methyltransferase | Genetics | Life sciences | Bioinformatics | Protein families | Supervision | Medical research | Head | Developmental biology | Drosophila | Autism | Brain research | Plasticity (synaptic) | Cognition & reasoning | Insects | Short term memory | Binding sites
Journal Article
Nature Communications, ISSN 2041-1723, 2018, Volume 9, Issue 1, pp. 4619 - 12
Chromatin remodeling is of crucial importance during brain development. Pathogenic alterations of several chromatin remodeling ATPases have been implicated in...
INTELLECTUAL DISABILITY | EXOME | DIAGNOSIS | CHROMATIN REMODELING COMPLEX | DE-NOVO MUTATIONS | GENE | MULTIDISCIPLINARY SCIENCES | DISORDER | DEACETYLASE COMPLEX | NURD | FAMILY | Brain | Phenotypes | Disorders | Genomes | Neurodevelopmental disorders | Remodeling | Gene sequencing | Chromatin remodeling | Proteins | DNA helicase | Alterations | Missense mutation | Language | Speech | Children | Mutation | Disruption | Three dimensional models | Adenosine triphosphatase | Genotypes | Life Sciences | Neurons and Cognition | Biochemistry, Molecular Biology | Neurobiology | Genetics | Biomolecules | Development Biology | Human genetics | Embryology and Organogenesis
INTELLECTUAL DISABILITY | EXOME | DIAGNOSIS | CHROMATIN REMODELING COMPLEX | DE-NOVO MUTATIONS | GENE | MULTIDISCIPLINARY SCIENCES | DISORDER | DEACETYLASE COMPLEX | NURD | FAMILY | Brain | Phenotypes | Disorders | Genomes | Neurodevelopmental disorders | Remodeling | Gene sequencing | Chromatin remodeling | Proteins | DNA helicase | Alterations | Missense mutation | Language | Speech | Children | Mutation | Disruption | Three dimensional models | Adenosine triphosphatase | Genotypes | Life Sciences | Neurons and Cognition | Biochemistry, Molecular Biology | Neurobiology | Genetics | Biomolecules | Development Biology | Human genetics | Embryology and Organogenesis
Journal Article
Human Mutation, ISSN 1059-7794, 2015, Volume 36, Issue 1, pp. 69 - 78
KIF1A is a neuron-specific motor protein that plays important roles in cargo transport along neurites. Recessive mutations in KIF1A were previously described...
spastic paraparesis | axonal neuropathy | KIF1A | intellectual disability | de novo mutations | Intellectual disability | De novo mutations | Spastic paraparesis | Axonal neuropathy | DIAGNOSIS | SYNAPTIC VESICLES | ACTIVATION | TRANSPORT | KINESIN | GENETICS & HEREDITY | LOOPS | PROTEINS | Protein Structure, Tertiary | Humans | Cognition Disorders - pathology | Child, Preschool | Hereditary Sensory and Autonomic Neuropathies - pathology | Models, Molecular | Male | Cognition Disorders - genetics | Mutation, Missense | Paraparesis, Spastic - genetics | Nervous System Diseases - genetics | Kinesin - chemistry | Young Adult | Paraparesis, Spastic - pathology | Adolescent | Kinesin - genetics | Adult | Epilepsy - genetics | Hereditary Sensory and Autonomic Neuropathies - genetics | Peripheral Nervous System Diseases - pathology | Peripheral Nervous System Diseases - genetics | Child | Epilepsy - pathology | Nervous System Diseases - pathology | Analysis | Epilepsy | Genomics | Genetic research | Boycotts | Skin diseases | Genetic aspects | Twins | Proteins | Mutation | Neurological disorders
spastic paraparesis | axonal neuropathy | KIF1A | intellectual disability | de novo mutations | Intellectual disability | De novo mutations | Spastic paraparesis | Axonal neuropathy | DIAGNOSIS | SYNAPTIC VESICLES | ACTIVATION | TRANSPORT | KINESIN | GENETICS & HEREDITY | LOOPS | PROTEINS | Protein Structure, Tertiary | Humans | Cognition Disorders - pathology | Child, Preschool | Hereditary Sensory and Autonomic Neuropathies - pathology | Models, Molecular | Male | Cognition Disorders - genetics | Mutation, Missense | Paraparesis, Spastic - genetics | Nervous System Diseases - genetics | Kinesin - chemistry | Young Adult | Paraparesis, Spastic - pathology | Adolescent | Kinesin - genetics | Adult | Epilepsy - genetics | Hereditary Sensory and Autonomic Neuropathies - genetics | Peripheral Nervous System Diseases - pathology | Peripheral Nervous System Diseases - genetics | Child | Epilepsy - pathology | Nervous System Diseases - pathology | Analysis | Epilepsy | Genomics | Genetic research | Boycotts | Skin diseases | Genetic aspects | Twins | Proteins | Mutation | Neurological disorders
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 02/2018, Volume 55, Issue 2, pp. 104 - 113
BackgroundDe novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual...
epilepsy and seizures | neonatal problems | PURA syndrome | hypotonia | intellectual disability | 5Q31.3 MICRODELETION SYNDROME | GENES | GENETICS & HEREDITY | POSTNATAL BRAIN-DEVELOPMENT | ALPHA | PATIENT | REVEALS | Genotype | Glycosylation | Genetic disorders | Research | Analysis | Neonates | Phenotypes | Computational neuroscience | Epilepsy | Neurodevelopmental disorders | Feeding | Proteins | Genotype & phenotype | Convulsions & seizures | Startle response | Questionnaires | Computer applications | Photographs | Mutation | Genotypes | Hypothermia | 1506
epilepsy and seizures | neonatal problems | PURA syndrome | hypotonia | intellectual disability | 5Q31.3 MICRODELETION SYNDROME | GENES | GENETICS & HEREDITY | POSTNATAL BRAIN-DEVELOPMENT | ALPHA | PATIENT | REVEALS | Genotype | Glycosylation | Genetic disorders | Research | Analysis | Neonates | Phenotypes | Computational neuroscience | Epilepsy | Neurodevelopmental disorders | Feeding | Proteins | Genotype & phenotype | Convulsions & seizures | Startle response | Questionnaires | Computer applications | Photographs | Mutation | Genotypes | Hypothermia | 1506
Journal Article
Nature communications, ISSN 2041-1723, 02/2019, Volume 10, Issue 1, pp. 883 - 4
The original version of this Article contained an error in the spelling of the author Laurence Faivre, which was incorrectly given as Laurence Faive. This has...
DNA helicase | Neurodevelopmental disorders | Mutation
DNA helicase | Neurodevelopmental disorders | Mutation
Journal Article
Nature communications, ISSN 2041-1723, 05/2019, Volume 10, Issue 1, pp. 2079 - 4
The HTML and PDF versions of this Article were updated after publication to remove images of one individual from Figure 1.
DNA helicase | Neurodevelopmental disorders | Mutation
DNA helicase | Neurodevelopmental disorders | Mutation
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2016, Volume 99, Issue 3, pp. 711 - 719
The overall understanding of the molecular etiologies of intellectual disability (ID) and developmental delay (DD) is increasing as next-generation sequencing...
Brain - embryology | Humans | Zebrafish - abnormalities | RNA, Messenger - analysis | DNA-Binding Proteins - analysis | Male | Developmental Disabilities - genetics | Brain - abnormalities | Zebrafish - embryology | Intellectual Disability - genetics | Brain - metabolism | DNA-Binding Proteins - metabolism | Spine - abnormalities | Developmental Disabilities - pathology | RNA Splicing - genetics | Minor Histocompatibility Antigens - genetics | Female | Genes, Essential - genetics | Developmental Disabilities - physiopathology | Haploinsufficiency - genetics | Intellectual Disability - pathology | DNA-Binding Proteins - genetics | Eye Abnormalities - genetics | Mutation - genetics | Syndrome | Zebrafish - genetics | Intellectual Disability - physiopathology | Minor Histocompatibility Antigens - analysis | Minor Histocompatibility Antigens - metabolism | Animals | Metabolic Diseases - metabolism | Pedigree | Head - abnormalities | Brain - pathology | Metabolic Diseases - genetics | Heterozygote | Report
Brain - embryology | Humans | Zebrafish - abnormalities | RNA, Messenger - analysis | DNA-Binding Proteins - analysis | Male | Developmental Disabilities - genetics | Brain - abnormalities | Zebrafish - embryology | Intellectual Disability - genetics | Brain - metabolism | DNA-Binding Proteins - metabolism | Spine - abnormalities | Developmental Disabilities - pathology | RNA Splicing - genetics | Minor Histocompatibility Antigens - genetics | Female | Genes, Essential - genetics | Developmental Disabilities - physiopathology | Haploinsufficiency - genetics | Intellectual Disability - pathology | DNA-Binding Proteins - genetics | Eye Abnormalities - genetics | Mutation - genetics | Syndrome | Zebrafish - genetics | Intellectual Disability - physiopathology | Minor Histocompatibility Antigens - analysis | Minor Histocompatibility Antigens - metabolism | Animals | Metabolic Diseases - metabolism | Pedigree | Head - abnormalities | Brain - pathology | Metabolic Diseases - genetics | Heterozygote | Report
Journal Article
PLoS One, ISSN 1932-6203, 2015, Volume 10, Issue 4, p. e0122648
General practitioners (GPs) are increasingly called upon to identify patients at risk for hereditary cancers, and their genetic competencies need to be...
CONTINUING MEDICAL-EDUCATION | PRIMARY-CARE | PROFESSIONALS | MULTIDISCIPLINARY SCIENCES | RANDOMIZED CONTROLLED-TRIAL | HEALTH-CARE | GPS | GENETICS EDUCATION | GENOMIC MEDICINE | General Practitioners - education | Genetics, Medical - education | Netherlands | Consumer Behavior | Humans | Surveys and Questionnaires | Medical Oncology - education | Referral and Consultation - statistics & numerical data | Education, Medical, Continuing - methods | Internet | Randomized Controlled Trials as Topic | Education | Analysis | Medical genetics | Research | Professional development | Methods | Genetic screening | Health care | Disease | Websites | Physicians | Professionals | Modules | Medical services | Clinical trials | Systematic review | Compounds | Knowledge | Medical referrals | Training | Skills | Consultation | Genetics | Life sciences | Public health | Medical personnel | Evaluation | Continuing professional development | Health risks | Family trees | Patients | Primary care | Family physicians | Medicine | Genetic counseling | Web sites | Long-term effects
CONTINUING MEDICAL-EDUCATION | PRIMARY-CARE | PROFESSIONALS | MULTIDISCIPLINARY SCIENCES | RANDOMIZED CONTROLLED-TRIAL | HEALTH-CARE | GPS | GENETICS EDUCATION | GENOMIC MEDICINE | General Practitioners - education | Genetics, Medical - education | Netherlands | Consumer Behavior | Humans | Surveys and Questionnaires | Medical Oncology - education | Referral and Consultation - statistics & numerical data | Education, Medical, Continuing - methods | Internet | Randomized Controlled Trials as Topic | Education | Analysis | Medical genetics | Research | Professional development | Methods | Genetic screening | Health care | Disease | Websites | Physicians | Professionals | Modules | Medical services | Clinical trials | Systematic review | Compounds | Knowledge | Medical referrals | Training | Skills | Consultation | Genetics | Life sciences | Public health | Medical personnel | Evaluation | Continuing professional development | Health risks | Family trees | Patients | Primary care | Family physicians | Medicine | Genetic counseling | Web sites | Long-term effects
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 04/2010, Volume 19, Issue 7, pp. 1368 - 1378
Autism is a neurodevelopmental disorder characterized by impaired social reciprocity, impaired communication and stereotypical behaviors. Despite strong...
MEMBRANE-FUSION | MENTAL-RETARDATION | EXOCYTOSIS | SPECTRUM DISORDER | NEUROLIGIN GENES | BIOCHEMISTRY & MOLECULAR BIOLOGY | NEUROBEACHIN GENE | GENETICS & HEREDITY | 15Q24 MICRODELETION SYNDROME | MUTATIONS | IDENTIFICATION | ASSOCIATION | Autistic Disorder - genetics | Blood Platelets - pathology | Carrier Proteins - physiology | Cell Line | Translocation, Genetic | Membrane Proteins - genetics | Humans | Autistic Disorder - blood | Gene Silencing | Secretory Vesicles - metabolism | Male | Nerve Tissue Proteins - genetics | Carrier Proteins - genetics | Animals | Membrane Proteins - physiology | Chromosomes, Human, Pair 15 | Adult | Mice
MEMBRANE-FUSION | MENTAL-RETARDATION | EXOCYTOSIS | SPECTRUM DISORDER | NEUROLIGIN GENES | BIOCHEMISTRY & MOLECULAR BIOLOGY | NEUROBEACHIN GENE | GENETICS & HEREDITY | 15Q24 MICRODELETION SYNDROME | MUTATIONS | IDENTIFICATION | ASSOCIATION | Autistic Disorder - genetics | Blood Platelets - pathology | Carrier Proteins - physiology | Cell Line | Translocation, Genetic | Membrane Proteins - genetics | Humans | Autistic Disorder - blood | Gene Silencing | Secretory Vesicles - metabolism | Male | Nerve Tissue Proteins - genetics | Carrier Proteins - genetics | Animals | Membrane Proteins - physiology | Chromosomes, Human, Pair 15 | Adult | Mice
Journal Article