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Alteration of the mechanisms of oxidative stress and their treatment in an animal model of Rett syndromehe action of the complex moderating ENA / VASP on synaptic defect induced by mutation of MeCP2 in neurons obtained from mice and induced pluripotent stem cells (iPSCs) derived from patients.

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Reference: 2 Abstract: This project was inspired by a series of preliminary results obtained by the proposer: It has established a unique relationship between mutations in the gene, the severity of the phenotype and the levels of some markers ZO, such as F2 isoprostanes and F4 and iron not bound to protein (NPBI) in plasma … Read more

Identification of Genetic Risk Factors for Complex Disorders by Studying Patients with Associated Balanced Chromosomal Rearragements

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Reference: NGFN2 Abstract: Associations between BCRs and disorders reported in the questionnaire are considered as probably real if the disorder co-segregates with the BCR in a family; if one breakpoint is located at a previously identified locus for the respective disorder; or if several unrelated patients with the same disorder have a breakpoint in the … Read more

The X-linked methyl binding protein gene Kaiso is highly expressed in brain but is not mutated in Rett syndrome patients.

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Reference: Abstract: Rett syndrome (RTT; OMIM 312750) is an X-linked dominant neurological disorder, which affects mostly females. It is associated with mutations of the MECP2 gene, codifying for a methyl-CpG DNA binding protein of the MBDs family, sharing the common Methyl Binding Domain. MeCP2 binds single methylated CpG pair and brings transcriptional silencing to the … Read more

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