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Brain, ISSN 0006-8950, 02/2019, Volume 142, Issue 2, pp. 276 - 294
The molecular mechanisms responsible for selective motor neuron loss in SMA remain elusive. Rizzo et al. show that deregulated transcripts in SMA-motor neurons... 
motor neurons | RNA sequencing | STEM-CELLS | RIBONUCLEOPROTEIN | PHENOTYPE | NRXN2 | NEUROSCIENCES | CLINICAL NEUROLOGY | SYNCRIP | SMN | HNRNP | ELEGANS | MOUSE MODEL | SMN1 | PROTEINS | EXPRESSION | GENE-PRODUCT | Original
Journal Article
Frontiers in molecular biosciences, ISSN 2296-889X, 2018, Volume 5, p. 79
Heteregeneous ribonucleoproteins (hnRNPs) are a family of RNA-binding proteins that take part in all processes that involve mRNA maturation. As a consequence,... 
Journal Article
ELIFE, ISSN 2050-084X, 09/2019, Volume 8
It is still unclear what drives progression of childhood tumors. During Drosophila larval development, asymmetrically-dividing neural stem cells, called... 
TRANSCRIPTION FACTORS | PROTEIN | MESSENGER-RNA | GENE | ASYMMETRIC SEGREGATION | BIOLOGY | SELF-RENEWAL | PROLIFERATION | EXPRESSION | GRADIENTS | CANCER STEM-CELLS | Glucose metabolism | Pattern formation | Insects | Tumor cells | Neuroblasts | Stem cells | Neural stem cells | Children | Metabolism | Tumors
Journal Article
Nature Genetics, ISSN 1061-4036, 01/2019, Volume 51, Issue 1, pp. 106 - 116
We combined de novo mutation (DNM) data from 10,927 individuals with developmental delay and autism to identify 253 candidate neurodevelopmental disease genes... 
INTELLECTUAL DISABILITY | AUTISM | MOUSE MODEL | GENETICS & HEREDITY | MISSENSE MUTATION | SEGMENTAL DUPLICATIONS | DEVELOPMENTAL DELAY | SPECTRUM | TRUNCATING MUTATIONS | CLINICAL-SIGNIFICANCE | HAPLOINSUFFICIENCY | Autistic Disorder - genetics | Humans | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | DNA Copy Number Variations - genetics | Developmental Disabilities - genetics | Neurodevelopmental Disorders - genetics | Mutation - genetics | Intellectual Disability - genetics | Exome - genetics | Phenotype | Animals | Chromosome Aberrations | Polymorphism, Single Nucleotide - genetics | Mice | Intracellular Signaling Peptides and Proteins - genetics | Gene mutations | Copy number variations | Analysis | Nervous system | Degeneration | Genetic aspects | Research | Morbidity | Neurosciences | Intellectual disabilities | Copy number | Genes | Disorders | Likelihood ratio | Genomes | Gene deletion | Neurodevelopmental disorders | Spiny neurons | Autism | Missense mutation | Clonal deletion | Reproduction (copying) | Neostriatum | Deletion | Gene duplication | Mutation | Chromosome 16 | TRIO | MYT1L | HNRNPU | EHMT1 | ENO3 | CAPN15 | SUV420H1 | PPP1CB | EFTUD2 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SOX5 | MAP2K1 | MEF2C | CSNK2A1 | TMEM178A | DYRK1A | CASK | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | HECW2 | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | Genetics of Developmental Delay | DLX3 | SET | KMT2A | SRCAP | ANP32A | STXBP1 | CUL3 | FOXG1 | ANKRD11 | ITPR1 | de novo Mutation | HIVEP3 | SNX5 | ZBTB18 | CREBBP | IQSEC2 | BCL11A | NONO | UPF3B | BRAF | ADAP1 | GRIN2B | SMARCA2 | SMARCA4 | MED13L | GNAO1 | AGO4 | DLG4 | CAPRIN1 | Neurodevelopmental Disorders | TCF4 | CDK13 | SCN2A | GABRB2 | KDM5B | SETD5 | DDX3X | CHD8 | PTEN | TCF20 | CTCF | CHD3 | CHD2 | WDR45 | SLC6A1 | MECP2 | SNAPC5 | SYNCRIP | TLK2 | CHAMP1 | KIF1A | RAC1 | TNPO2 | DNMT3A | MSL3 | PPP2R5D | ASH1L | SMC1A | ARID1B | CNKSR2 | PACS2 | SETBP1 | PIK3CA | PACS1 | WAC | ZMYND11 | SHANK3 | AHDC1 | SMARCD1 | WDR26 | NFIX | SATB2 | KIAA2022 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | LEO1 | DYNC1H1 | MBD5 | NAA10 | USP9X | PTPN11 | MEIS2 | GATAD2B | KANSL1 | ASXL3 | CTNNB1 | TRIP12 | QRICH1 | NAA15 | TAF1
Journal Article
Biology Open, ISSN 2046-6390, 05/2012, Volume 1, Issue 5, pp. 488 - 497
In the Drosophila oocyte, mRNA transport and localised translation play a fundamental role in axis determination and germline formation of the future embryo.... 
mRNA localization | Oogenesis | Syncrip | Drosophila | Localised translation | BIOLOGY | localised translation | oogenesis
Journal Article
Frontiers in Molecular Biosciences, ISSN 2296-889X, 08/2018, Volume 5
Heteregeneous ribonucleoproteins (hnRNPs) are a family of RNA-binding proteins that take part in all processes that involve mRNA maturation. As a consequence,... 
Brain | HnRNP Q | Syncrip | RNA-seq | HnRNP R | Immune system | Physiological aspects | Molecular evolution | Genetic aspects | Research | Binding proteins | RNA processing | immune system | hnRNP Q | brain | hnRNP R
Journal Article
Journal Article
Biology Open, ISSN 2046-6390, 09/2014, Volume 3, Issue 9, pp. 839 - 849
Synaptic plasticity involves the modulation of synaptic connections in response to neuronal activity via multiple pathways. One mechanism modulates synaptic... 
Syncrip | mRNA localization neuromuscular junction | Synaptic transmission | Drosophila | Localized translation | LOCALIZATION | PRESYNAPTIC RELEASE | DETERMINANT | JUNCTION | MESSENGER-RNA | II RECEPTOR | GROWTH | BIOLOGY | COMPONENT | EXPRESSION | MORPHOLOGY
Journal Article
Journal Article