Claudia Perandones

Learn More
Several regulated mRNAs were detected by applying differential display to the mouse cerebellum during postnatal development. One cDNA fragment, referred to as CPD1 (GenBank U89345), was characterized and cloned. Northern blots showed maximum mRNA expression at postnatal day seven (P7). The mRNA encodes a protein of 260 amino acids. In situ RT-PCR showed(More)
The PTEN (phosphatase and tensin homolog deleted on chromosome 10) tumor suppressor gene codifies a lipid inositol 3'-phosphatase that negatively regulates cell survival mediated by the phosphatidyl inositol 3' kinase (PIP3-kinase)--protein kinase B/Akt signaling pathway. Recently, PIP3-kinase was involved in axon polarization, but PTEN functions in(More)
Results from a genome-wide screen of 10 multiplex families ascertained through probands with nonsyndromic cleft lip with or without cleft palate (CL/P) in Mexico, Argentina, and the United States yielded suggestive evidence of linkage to chromosomes 2, 6, 17 and 18. Fine mapping excluded all regions except chromosome 2. Subsequent analysis was performed on(More)
Anp32e/Cpd1, a member of the acidic nuclear phosphoprotein (Anp)32 family, is characterized by the presence of an amino terminal domain containing four leucine-rich repeats and a carboxyl-terminal low-compositional complexity acidic region. In previous studies performed to understand the biological role of Anp32e/Cpd1, we showed a predominant presence of(More)
PTEN is a critical gene involved in the regulation of many cellular processes. The product of this gene has dual phosphatase activity and is able to dephosphorylate the 5' end of the phosphatidylinositol (3,4,5)-trisphosphate. Within the cellular nucleus, this protein has been associated with regulation of the expression of many genes, although the(More)
We studied chromosomal abnormalities in arrested embryos produced by assisted reproductive technology with fluorescence in situ hybridization (FISH) and comparative genomic hybridization (CGH) in order to determine the best technique for evaluating chromosomal aneusomies to be implemented in different situations. We examined individual blastomeres from(More)
At least 30 different missense mutations have been identified within the presenilin 1 (PS1) gene in pedigrees transmitting familial Alzheimer's disease. The authors investigated the clinical and pathological features of affected members of two pedigrees segregating a PS1 Met146Leu mutation. Genetic relationships between these pedigrees can be effectively(More)
We have read with great interest the review published in your journal titled " Hypothesis: Somatic Mosaicism and Parkinson Disease (Exp Neurobiol. 2014 Dec;23:271-276), " which discusses the " potential " existence of mosaicisms in Parkinson' s disease. We find it essential to clarify some concepts that we consider inadequate/incorrect because they are(More)
The D216H polymorphism (rs1801968) in TOR1A has been suggested as a risk factor for developing primary dystonia in German subjects not carrying the deletion c.904-906delGAG (∆GAG). However, this association could not be confirmed in other populations with different ethnic backgrounds. The purpose of this study is to evaluate the D216H polymorphism in an(More)
  • 1