about
Long noncoding RNAs in mouse embryonic stem cell pluripotency and differentiationA de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellumMagnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.Effect of 5'UTR introns on gene expression in Arabidopsis thaliana.Orthologous microRNA genes are located in cancer-associated genomic regions in human and mouseMaintenance of transposon-free regions throughout vertebrate evolutionExpression of distinct RNAs from 3' untranslated regions.Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient.TUBB4A de novo mutations cause isolated hypomyelination.Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.The transcriptional network that controls growth arrest and differentiation in a human myeloid leukemia cell line.Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy.DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorderHypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defectA clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathiesA protocol for the identification and validation of novel genetic causes of kidney diseaseRecessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.mafba is a downstream transcriptional effector of Vegfc signaling essential for embryonic lymphangiogenesis in zebrafish.The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.Utilising polymorphisms to achieve allele-specific genome editing in zebrafish.Whole exome sequencing in patients with white matter abnormalities.Mural lymphatic endothelial cells regulate meningeal angiogenesis in the zebrafish.Tmem2 Regulates Embryonic Vegf Signaling by Controlling Hyaluronic Acid Turnover.Nuclear-localized tiny RNAs are associated with transcription initiation and splice sites in metazoans.RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.Transposon-free regions in mammalian genomes.Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.Reply: The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot.Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndromeMutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy.Expression Pattern of the Aspartyl-tRNA Synthetase DARS in the Human Brain.Tiny RNAs associated with transcription start sites in animals.Corrigendum: Tiny RNAs associated with transcription start sites in animals
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description
onderzoeker
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researcher
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հետազոտող
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Cas Simons
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Cas Simons
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Cas Simons
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Cas Simons
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Cas Simons
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Cas Simons
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Cas Simons
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Cas Simons
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Cas Simons
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Cas Simons
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Cas Simons
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Cas Simons
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Cas Simons
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Cas Simons
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Cas Simons
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P106
P1153
14030276800
P21
P31
P496
0000-0003-3147-8042