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