Pages that link to "Q51936807"

The following pages link to Novel exon 1 mutations in MECP2 implicate isoform MeCP2_e1 in classical Rett syndrome (Q51936807):

Displaying 20 items.

• The Utility of Next-Generation Sequencing in Gene Discovery for Mutation-Negative Patients with Rett Syndrome (Q26800087) (← links)
• Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome (Q30575472) (← links)
• Over-expression of either MECP2_e1 or MECP2_e2 in neuronally differentiated cells results in different patterns of gene expression (Q31155726) (← links)
• Experimental Autoimmune Encephalomyelitis (EAE)-Induced Elevated Expression of the E1 Isoform of Methyl CpG Binding Protein 2 (MeCP2E1): Implications in Multiple Sclerosis (MS)-Induced Neurological Disability and Associated Myelin Damage (Q33838894) (← links)
• Novel MeCP2 isoform-specific antibody reveals the endogenous MeCP2E1 expression in murine brain, primary neurons and astrocytes (Q34490485) (← links)
• Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes (Q35603659) (← links)
• Joining the dots: from chromatin remodeling to neuronal plasticity (Q36032226) (← links)
• Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders (Q36909257) (← links)
• A synonymous change, p.Gly16Gly in MECP2 Exon 1, causes a cryptic splice event in a Rett syndrome patient (Q37060023) (← links)
• Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. (Q37410689) (← links)
• Decitabine alters the expression of Mecp2 isoforms via dynamic DNA methylation at the Mecp2 regulatory elements in neural stem cells (Q37509126) (← links)
• Rett syndrome and MeCP2. (Q38194967) (← links)
• Isoform-specific anti-MeCP2 antibodies confirm that expression of the e1 isoform strongly predominates in the brain. (Q41873737) (← links)
• MeCP2_E1 N-terminal modifications affect its degradation rate and are disrupted by the Ala2Val Rett mutation. (Q47605915) (← links)
• Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2. (Q48731956) (← links)
• A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation. (Q52713265) (← links)
• An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain (Q60894792) (← links)
• Genetic landscape of autism spectrum disorder in Vietnamese children (Q90471873) (← links)
• MeCP2-E1 isoform is a dynamically expressed, weakly DNA-bound protein with different protein and DNA interactions compared to MeCP2-E2 (Q90635259) (← links)
• MeCP2_e2 partially compensates for lack of MeCP2_e1: A male case of Rett syndrome (Q91805797) (← links)