Human Genetics, ISSN 0340-6717, 12/2019, Volume 138, Issue 11, pp. 1409 - 1417
Pelizaeus-Merzbacher-like disease (PMLD) is an autosomal recessive hypomyelinating leukodystrophy, which is clinically and radiologically similar to X-linked...
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | Pelizaeus-Merzbacher disease | Nuclear magnetic resonance--NMR | Leukodystrophy | Blood cells | Spasticity | Neuropathy | Substantia alba | Neurodevelopmental disorders | Gene expression | Corpus callosum | Ichthyosis | Atrophy | Myelination | Optic atrophy | Magnetic resonance imaging | Nystagmus | Cerebrum | Ataxia | Mutation | Dystonia | Age | Seizures
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | Pelizaeus-Merzbacher disease | Nuclear magnetic resonance--NMR | Leukodystrophy | Blood cells | Spasticity | Neuropathy | Substantia alba | Neurodevelopmental disorders | Gene expression | Corpus callosum | Ichthyosis | Atrophy | Myelination | Optic atrophy | Magnetic resonance imaging | Nystagmus | Cerebrum | Ataxia | Mutation | Dystonia | Age | Seizures
Journal Article
Nature Communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 708 - 15
Aminoacyl tRNA synthetases (ARSs) link specific amino acids with their cognate transfer RNAs in a critical early step of protein translation. Mutations in ARSs...
MUTATIONS CAUSE | HYPOMYELINATION | BIOGENESIS | MECHANISM | ILAE COMMISSION | MULTIDISCIPLINARY SCIENCES | GENES | PHENOTYPE | ONSET | TRNA(VAL) | TRANSFER-RNA-SYNTHETASE | Yeast | tRNA | Epilepsy | Amino acids | Zebrafish | Microcephaly | Neurodevelopmental disorders | Proteins | Neurological diseases | Microencephaly | Encephalopathy | Complementation | Mutation | Age
MUTATIONS CAUSE | HYPOMYELINATION | BIOGENESIS | MECHANISM | ILAE COMMISSION | MULTIDISCIPLINARY SCIENCES | GENES | PHENOTYPE | ONSET | TRNA(VAL) | TRANSFER-RNA-SYNTHETASE | Yeast | tRNA | Epilepsy | Amino acids | Zebrafish | Microcephaly | Neurodevelopmental disorders | Proteins | Neurological diseases | Microencephaly | Encephalopathy | Complementation | Mutation | Age
Journal Article
Human Mutation, ISSN 1059-7794, 11/2019
Journal Article
Neuropsychopharmacology, ISSN 0893-133X, 02/2019, Volume 44, Issue 3, pp. 620 - 628
Bipolar disorder (BD) is a serious mood disorder associated with circadian rhythm abnormalities. Risk for BD is genetically encoded and overlaps with systems...
DEPRESSION | SLEEP | PHOSPHORYLATION | PSYCHIATRY | NEUROTROPHIC FACTOR | UNIPOLAR | MANIA | NEUROSCIENCES | PHASE | DISRUPTION | PHARMACOLOGY & PHARMACY | CLOCK | BRAIN | Circadian rhythms | Parameter estimation | Evening | Abnormalities | Lithium | Bipolar disorder | Rhythm | Pharmacology | Genetic diversity | Mental depression | Circadian rhythm | Patients | Genetic code | Sleep disorders | Signal transduction | Mood | Affective disorders | Insomnia | Fibroblasts | Skin | Period 2 protein | Inositol 1,4,5-trisphosphate | System effectiveness
DEPRESSION | SLEEP | PHOSPHORYLATION | PSYCHIATRY | NEUROTROPHIC FACTOR | UNIPOLAR | MANIA | NEUROSCIENCES | PHASE | DISRUPTION | PHARMACOLOGY & PHARMACY | CLOCK | BRAIN | Circadian rhythms | Parameter estimation | Evening | Abnormalities | Lithium | Bipolar disorder | Rhythm | Pharmacology | Genetic diversity | Mental depression | Circadian rhythm | Patients | Genetic code | Sleep disorders | Signal transduction | Mood | Affective disorders | Insomnia | Fibroblasts | Skin | Period 2 protein | Inositol 1,4,5-trisphosphate | System effectiveness
Journal Article
F1000Research, ISSN 2046-1402, 2017, Volume 6, p. 553
Mutations disrupting presynaptic protein TBC1D24 are associated with a variable neurological phenotype, including DOORS syndrome, myoclonic epilepsy,...
Intellectual disabilities | Medical Genetics
Intellectual disabilities | Medical Genetics
Journal Article
BMC Psychiatry, ISSN 1471-244X, 05/2016, Volume 16, Issue 129, p. 129
Background: Bipolar disorder is a serious and common psychiatric disorder characterized by manic and depressive mood switches and a relapsing and remitting...
Pharmacogenetics | GWAS | Precision medicine | Mood stabilizer | Prospective trial | Bipolar disorder | Lithium | Personalized medicine | PHOSPHOLIPASE C-GAMMA-1 | PSYCHIATRY | INCREASES | MANIA | TRIAL | INHIBITION | I-DISORDER | MOOD DISORDERS | RATING-SCALE | ADENYLATE-CYCLASE | EXPRESSION | Diagnostic and Statistical Manual of Mental Disorders | Genome-Wide Association Study | Prospective Studies | Follow-Up Studies | Humans | Middle Aged | Male | Secondary Prevention | Bipolar Disorder - drug therapy | Antidepressive Agents - therapeutic use | Lithium Compounds - therapeutic use | Female | Valproic Acid - therapeutic use | Aged | Retrospective Studies | Disability | Usage | Care and treatment | Analysis | Research | Gene expression | Risk factors
Pharmacogenetics | GWAS | Precision medicine | Mood stabilizer | Prospective trial | Bipolar disorder | Lithium | Personalized medicine | PHOSPHOLIPASE C-GAMMA-1 | PSYCHIATRY | INCREASES | MANIA | TRIAL | INHIBITION | I-DISORDER | MOOD DISORDERS | RATING-SCALE | ADENYLATE-CYCLASE | EXPRESSION | Diagnostic and Statistical Manual of Mental Disorders | Genome-Wide Association Study | Prospective Studies | Follow-Up Studies | Humans | Middle Aged | Male | Secondary Prevention | Bipolar Disorder - drug therapy | Antidepressive Agents - therapeutic use | Lithium Compounds - therapeutic use | Female | Valproic Acid - therapeutic use | Aged | Retrospective Studies | Disability | Usage | Care and treatment | Analysis | Research | Gene expression | Risk factors
Journal Article
BMC Medical Genomics, ISSN 1755-8794, 10/2017, Volume 10, Issue 1, pp. 61 - 17
Background: Significant clinical and research applications are driving large scale adoption of individualized tumor sequencing in cancer in order to identify...
Somatic mutation | Germline variant | Tumor purity | Precision medicine | Copy number alterations | Next generation sequencing | Cancer | EXOME | DISCOVERY | HETEROGENEITY | IMPACT | COPY-NUMBER | GENETICS & HEREDITY | FRAMEWORK | MUTATIONS | DNA-SEQUENCING DATA | PAIRS | Development and progression | Genetic aspects | Nucleotide sequencing | Research | Gene therapy | DNA sequencing | Parameter estimation | Copy number | Genomics | Genomes | Databases | Gene frequency | Biopsy | Population | Genetic testing | Mutation | Bioinformatics | Bayesian analysis | Deoxyribonucleic acid--DNA | Tumors
Somatic mutation | Germline variant | Tumor purity | Precision medicine | Copy number alterations | Next generation sequencing | Cancer | EXOME | DISCOVERY | HETEROGENEITY | IMPACT | COPY-NUMBER | GENETICS & HEREDITY | FRAMEWORK | MUTATIONS | DNA-SEQUENCING DATA | PAIRS | Development and progression | Genetic aspects | Nucleotide sequencing | Research | Gene therapy | DNA sequencing | Parameter estimation | Copy number | Genomics | Genomes | Databases | Gene frequency | Biopsy | Population | Genetic testing | Mutation | Bioinformatics | Bayesian analysis | Deoxyribonucleic acid--DNA | Tumors
Journal Article
New Zealand Plant Protection, ISSN 1175-9003, 01/2018, Volume 71, p. 355
Needle diseases of Pinus radiata caused by Phytophthora pluvialis and Phythophthora kernoviae have been increasingly recognised since the discovery of red...
Pathology | Needlecast | Forests | Automation | Diagnostic systems | Pine trees | Deoxyribonucleic acid--DNA
Pathology | Needlecast | Forests | Automation | Diagnostic systems | Pine trees | Deoxyribonucleic acid--DNA
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 716 - 724
DHX30 is a member of the family of DExH-box helicases, which use ATP hydrolysis to unwind RNA secondary structures. Here we identified six different missense...
INTELLECTUAL DISABILITY | RNA GRANULES | MODULE | PROTEIN | DISRUPTION | GENE | DISEASE | GENETICS & HEREDITY | HELICASE | STRESS GRANULES | FAMILY | Cell Line | Humans | Central Nervous System - pathology | Child, Preschool | Male | Developmental Disabilities - genetics | Amino Acids - genetics | Mutation, Missense - genetics | Intellectual Disability - genetics | RNA - genetics | Adolescent | HEK293 Cells | Cell Line, Tumor | Female | RNA Helicases - genetics | Adenosine Triphosphatases - genetics | Child
INTELLECTUAL DISABILITY | RNA GRANULES | MODULE | PROTEIN | DISRUPTION | GENE | DISEASE | GENETICS & HEREDITY | HELICASE | STRESS GRANULES | FAMILY | Cell Line | Humans | Central Nervous System - pathology | Child, Preschool | Male | Developmental Disabilities - genetics | Amino Acids - genetics | Mutation, Missense - genetics | Intellectual Disability - genetics | RNA - genetics | Adolescent | HEK293 Cells | Cell Line, Tumor | Female | RNA Helicases - genetics | Adenosine Triphosphatases - genetics | Child
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 01/2018, Volume 102, Issue 1, p. 196
(The American Journal of Human Genetics 101, 716–724; November 2, 2017) The name of author Margot R.F. Reijnders was misspelled in the originally published...
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 02/2018, Volume 27, Issue 4, pp. 691 - 705
Abstract UBTF (upstream binding transcription factor) exists as two isoforms; UBTF1 regulates rRNA transcription by RNA polymerase 1, whereas UBTF2 regulates...
INTELLECTUAL DISABILITY | NUCLEOLAR STRESS | RIBOSOMAL TRANSCRIPTION | RNA-POLYMERASE-I | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | FACTOR UBF | TRANSCRIPTION FACTOR | ERK PHOSPHORYLATION | HUNTINGTONS-DISEASE | NONSENSE MUTATION | PARKINSONS-DISEASE
INTELLECTUAL DISABILITY | NUCLEOLAR STRESS | RIBOSOMAL TRANSCRIPTION | RNA-POLYMERASE-I | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | FACTOR UBF | TRANSCRIPTION FACTOR | ERK PHOSPHORYLATION | HUNTINGTONS-DISEASE | NONSENSE MUTATION | PARKINSONS-DISEASE
Journal Article
Seminars in Pediatric Neurology, ISSN 1071-9091, 07/2018, Volume 26, pp. 28 - 32
Epileptic encephalopathies are childhood brain disorders characterized by a variety of severe epilepsy syndromes that differ by the age of onset and seizure...
GNAO1 | SEIZURES | DE-NOVO MUTATIONS | ADENOSINE | FRAMEWORK | PEDIATRICS | MICE | SUPPRESSION | VARIANT | INFANCY | CLINICAL NEUROLOGY | SUBUNIT | GTP-Binding Protein alpha Subunits, Gi-Go - genetics | Diagnosis, Differential | Phenotype | Rett Syndrome - diagnosis | Diagnostic Errors | Humans | Child, Preschool | Female | Spasms, Infantile - diagnosis | Spasms, Infantile - genetics | Rett Syndrome - genetics | Methyl-CpG-Binding Protein 2 - genetics | Infants (Newborn) | Nervous system diseases | Epilepsy | Genomics | Electroencephalography | Case studies | Encephalopathy | Rett syndrome | Genetic research | Diagnosis | Nucleotide sequencing | Seizures (Medicine) | DNA sequencing
GNAO1 | SEIZURES | DE-NOVO MUTATIONS | ADENOSINE | FRAMEWORK | PEDIATRICS | MICE | SUPPRESSION | VARIANT | INFANCY | CLINICAL NEUROLOGY | SUBUNIT | GTP-Binding Protein alpha Subunits, Gi-Go - genetics | Diagnosis, Differential | Phenotype | Rett Syndrome - diagnosis | Diagnostic Errors | Humans | Child, Preschool | Female | Spasms, Infantile - diagnosis | Spasms, Infantile - genetics | Rett Syndrome - genetics | Methyl-CpG-Binding Protein 2 - genetics | Infants (Newborn) | Nervous system diseases | Epilepsy | Genomics | Electroencephalography | Case studies | Encephalopathy | Rett syndrome | Genetic research | Diagnosis | Nucleotide sequencing | Seizures (Medicine) | DNA sequencing
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 716 - 724
INTELLECTUAL DISABILITY | RNA GRANULES | MODULE | PROTEIN | DISRUPTION | GENE | DISEASE | HELICASE | STRESS GRANULES | FAMILY
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 11/2017, Volume 101, Issue 5, pp. 716 - 724
DHX30 is a member of the family of DExH-box helicases, which use ATP hydrolysis to unwind RNA secondary structures. Here we identified six different de novo...
INTELLECTUAL DISABILITY | RNA GRANULES | MODULE | PROTEIN | DISRUPTION | GENE | DISEASE | HELICASE | STRESS GRANULES | FAMILY
INTELLECTUAL DISABILITY | RNA GRANULES | MODULE | PROTEIN | DISRUPTION | GENE | DISEASE | HELICASE | STRESS GRANULES | FAMILY
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2018, Volume 102, Issue 1, pp. 196 - 196
Journal Article
Neuroscience Letters, ISSN 0304-3940, 2009, Volume 460, Issue 1, pp. 92 - 96
Secreted amyloid precursor protein-α (sAPPα) is a neuroprotective and neurotrophic protein derived from the parent APP molecule. We have shown that sAPPα...
cGMP-dependent protein kinase | Synaptoneurosome | Aging | Secreted APPα | Protein synthesis | Synaptic plasticity | FORM | CEREBROSPINAL-FLUID | TRANSLATION | HIPPOCAMPAL-NEURONS | NEUROSCIENCES | Secreted APP alpha | CYTOPLASMIC POLYADENYLATION ELEMENT | MESSENGER-RNA | FAMILIAL ALZHEIMERS-DISEASE | LONG-TERM POTENTIATION | RECEPTORS | PLASTICITY | Animals, Newborn | Disks Large Homolog 4 Protein | Synaptosomes - drug effects | Age Factors | Enzyme Inhibitors - pharmacology | Rats | Male | Intracellular Signaling Peptides and Proteins - metabolism | Synaptosomes - metabolism | Rats, Sprague-Dawley | Synaptosomes - ultrastructure | Dose-Response Relationship, Drug | Up-Regulation - drug effects | Tubulin - metabolism | Animals | Analysis of Variance | Protein Kinase C - metabolism | Hippocampus - ultrastructure | Membrane Proteins - metabolism | Calnexin - metabolism | Amyloid Precursor Protein Secretases - pharmacology | Index Medicus
cGMP-dependent protein kinase | Synaptoneurosome | Aging | Secreted APPα | Protein synthesis | Synaptic plasticity | FORM | CEREBROSPINAL-FLUID | TRANSLATION | HIPPOCAMPAL-NEURONS | NEUROSCIENCES | Secreted APP alpha | CYTOPLASMIC POLYADENYLATION ELEMENT | MESSENGER-RNA | FAMILIAL ALZHEIMERS-DISEASE | LONG-TERM POTENTIATION | RECEPTORS | PLASTICITY | Animals, Newborn | Disks Large Homolog 4 Protein | Synaptosomes - drug effects | Age Factors | Enzyme Inhibitors - pharmacology | Rats | Male | Intracellular Signaling Peptides and Proteins - metabolism | Synaptosomes - metabolism | Rats, Sprague-Dawley | Synaptosomes - ultrastructure | Dose-Response Relationship, Drug | Up-Regulation - drug effects | Tubulin - metabolism | Animals | Analysis of Variance | Protein Kinase C - metabolism | Hippocampus - ultrastructure | Membrane Proteins - metabolism | Calnexin - metabolism | Amyloid Precursor Protein Secretases - pharmacology | Index Medicus
Journal Article