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The American Journal of Human Genetics, ISSN 0002-9297, 01/2014, Volume 94, Issue 1, pp. 120 - 128
Journal Article
Journal Article
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 475 - 11
Congenital Zika syndrome (CZS) causes early brain development impairment by affecting neural progenitor cells (NPCs). Here, we analyze NPCs from three pairs of... 
STEM-CELLS | VIRUS-INFECTION | MENTAL-RETARDATION | INTEGRATION | MULTIDISCIPLINARY SCIENCES | GENETIC-VARIANTS | FLAVIVIRUSES | SEQUENCING DATA | IDENTIFICATION | ASSOCIATION | EXPRESSION | TOR protein | Vector-borne diseases | Brain | Regulators | Wnt protein | Viruses | Zika virus | Infections | Gene expression | Ribonucleic acid--RNA | Progenitor cells | Babies | Cells (biology) | Neural stem cells | Stochasticity | Twins
Journal Article
Human Mutation, ISSN 1059-7794, 10/2018, Volume 39, Issue 10, pp. 1372 - 1383
The Reelin–DAB1 signaling pathway plays a crucial role in regulating neuronal migration and synapse function. Although many rare heterozygous variants in the... 
mTORC1 signaling | iPSC‐derived neural progenitor cells | autism spectrum disorder | Reelin–DAB1 signaling | functional analysis of rare variants | iPSC-derived neural progenitor cells | APOE RECEPTOR 2 | NEURONAL MIGRATION | PROTEIN | Reelin-DAB1 signaling | PHOSPHORYLATION | PHOSPHATIDYLINOSITOL 3-KINASE | DISABLED-1 | VLDL RECEPTOR | STRUCTURAL BASIS | GENETICS & HEREDITY | MUTATIONS | LAMINATION | Adaptor Proteins, Signal Transducing - chemistry | TOR Serine-Threonine Kinases - metabolism | Humans | Child, Preschool | Male | Structure-Activity Relationship | Neural Stem Cells - cytology | Case-Control Studies | Genetic Variation | Nerve Tissue Proteins - chemistry | Serine Endopeptidases - genetics | Female | Cell Adhesion Molecules, Neuronal - metabolism | Induced Pluripotent Stem Cells - cytology | Proto-Oncogene Proteins c-akt - metabolism | Child | Autism Spectrum Disorder - diagnosis | Extracellular Matrix Proteins - metabolism | Induced Pluripotent Stem Cells - metabolism | Autism Spectrum Disorder - genetics | Extracellular Matrix Proteins - chemistry | Gene Expression | Cell Adhesion Molecules, Neuronal - chemistry | Signal Transduction | Extracellular Matrix Proteins - genetics | Models, Molecular | Serine Endopeptidases - chemistry | Nerve Tissue Proteins - genetics | Cell Adhesion Molecules, Neuronal - genetics | Nerve Tissue Proteins - metabolism | Autism Spectrum Disorder - metabolism | Alleles | Biomarkers | Heterozygote | Protein Conformation | Serine Endopeptidases - metabolism | Adaptor Proteins, Signal Transducing - metabolism | Neural Stem Cells - metabolism | Autism | Cellular signal transduction | Analysis | Cardiac patients | Signal transduction | Leukocyte migration | Etiology | Secretion | Dab1 protein | Neural stem cells | Rapamycin | Transduction | Reelin protein | Progenitor cells | Cell migration
Journal Article
Journal of Cellular Biochemistry, ISSN 0730-2312, 11/2017, Volume 118, Issue 11, pp. 4045 - 4062
Journal Article
Scientific Reports, ISSN 2045-2322, 2017, Volume 7, Issue 1, pp. 207 - 7
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 01/2016, Volume 24, Issue 1, pp. 59 - 65
Protein synthesis regulation via mammalian target of rapamycin complex 1 (mTORC1) signaling pathway has key roles in neural development and function, and its... 
PLURIPOTENT STEM-CELLS | GEPHYRIN | COMPLEX | ARHGEF9 | LINKED MENTAL-RETARDATION | SYNAPSES | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | FRAGILE-X-SYNDROME | TUBEROUS SCLEROSIS | EPILEPSY | TRANSLATION | Autistic Disorder - physiopathology | Autistic Disorder - metabolism | TOR Serine-Threonine Kinases - metabolism | Humans | Male | Multiprotein Complexes - genetics | Peptide Chain Initiation, Translational | Case-Control Studies | Intellectual Disability - genetics | Intellectual Disability - metabolism | Mechanistic Target of Rapamycin Complex 1 | Multiprotein Complexes - metabolism | TOR Serine-Threonine Kinases - genetics | Transfection | Gene Deletion | HEK293 Cells | Eukaryotic Initiation Factor-3 - genetics | Induced Pluripotent Stem Cells - metabolism | Autistic Disorder - genetics | Induced Pluripotent Stem Cells - pathology | Rho Guanine Nucleotide Exchange Factors - deficiency | Genetic Vectors - chemistry | Signal Transduction | Gene Expression Regulation | Genetic Vectors - metabolism | Eukaryotic Initiation Factor-3 - metabolism | Rho Guanine Nucleotide Exchange Factors - genetics | Neural Stem Cells - pathology | Intellectual Disability - physiopathology | Adolescent | Protein Binding | Primary Cell Culture | Neural Stem Cells - metabolism | TOR protein | Phosphorylation | Intellectual disabilities | Epilepsy | Translation initiation | Protein biosynthesis | Rapamycin | Gene deletion | Neurodevelopmental disorders | Gephyrin | Autism | Signal transduction | Clonal deletion | Neural stem cells
Journal Article