Item Type | Name |
Concept
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DNA-Activated Protein Kinase
|
Concept
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Receptor Protein-Tyrosine Kinases
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Concept
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Mitogen-Activated Protein Kinase 7
|
Concept
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Ribosomal Protein S6 Kinases
|
Concept
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Cyclin-Dependent Kinase Inhibitor p16
|
Concept
|
Protein Kinase C-epsilon
|
Concept
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Protein Kinase C
|
Concept
|
Class I Phosphatidylinositol 3-Kinases
|
Concept
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TOR Serine-Threonine Kinases
|
Concept
|
Cyclin-Dependent Kinases
|
Concept
|
Phosphatidylinositol 3-Kinases
|
Concept
|
Guanylate Kinases
|
Concept
|
Protein Kinase Inhibitors
|
Concept
|
Cyclin-Dependent Kinase 5
|
Academic Article
|
Phenotypic spectrum associated with CASK loss-of-function mutations.
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Academic Article
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CDKL5 and ARX mutations in males with early-onset epilepsy.
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Academic Article
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Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.
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Academic Article
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Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
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Academic Article
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PRKDC mutations in a SCID patient with profound neurological abnormalities.
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Academic Article
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Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.
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Academic Article
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PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
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Academic Article
|
Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.
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Academic Article
|
Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling.
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Academic Article
|
Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA.
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Academic Article
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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
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Academic Article
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14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome.
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Academic Article
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CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.
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Academic Article
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Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.
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Academic Article
|
Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.
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Academic Article
|
De novo mutations in SIK1 cause a spectrum of developmental epilepsies.
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Academic Article
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PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.
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Academic Article
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Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.
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Academic Article
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Mouse models of human PIK3CA-related brain overgrowth have acutely treatable epilepsy.
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Academic Article
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Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".
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Academic Article
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Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
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Academic Article
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Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
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Academic Article
|
Catenin delta-1 (CTNND1) phosphorylation controls the mesenchymal to epithelial transition in astrocytic tumors.
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Academic Article
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PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
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Academic Article
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Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.
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Academic Article
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Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations.
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Academic Article
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Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
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Academic Article
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Acetylsalicylic acid suppression of the PI3K pathway as a novel medical therapy for head and neck lymphatic malformations.
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Academic Article
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Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.
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