Daniele Yumi Sunaga

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An increasing number of genetic variants have been implicated in autism spectrum disorders (ASDs), and the functional study of such variants will be critical for the elucidation of autism pathophysiology. Here, we report a de novo balanced translocation disruption of TRPC6, a cation channel, in a non-syndromic autistic individual. Using multiple models,(More)
Nonsyndromic cleft lip and palate (NSCL/P) is a complex disease resulting from failure of fusion of facial primordia, a complex developmental process that includes the epithelial-mesenchymal transition (EMT). Detection of differential gene transcription between NSCL/P patients and control individuals offers an interesting alternative for investigating(More)
Non-syndromic cleft lip/palate (NSCL/P) is a complex, frequent congenital malformation, determined by the interplay between genetic and environmental factors during embryonic development. Previous findings have appointed an aetiological overlap between NSCL/P and cancer, and alterations in similar biological pathways may underpin both conditions. Here,(More)
Mesenchymal stem cell (MSC) osteogenic differentiation potential varies according to factors such as tissue source and cell population heterogeneity. Pre-selection of cell subpopulations harboring higher osteopotential is a promising strategy to achieve a thorough translation of MSC-based therapies to the clinic. Here, we searched for novel molecular(More)
Apert syndrome (AS), the most severe form craniosynostosis, is characterized by premature fusion of coronal sutures. Approximately 70% of AS patients carry S252W gain-of-function mutation in FGFR2. Besides the cranial phenotype, brain dysmorphologies are present and are not seen in other FGFR2-asociated craniosynostosis, such as Crouzon syndrome (CS). Here,(More)
As the number and sophistication tools and databases for bioinformatics grow rapidly, so does the demand for compiling services to assist people to run them efficiently. Complicating matters is the fact that bioinformatics specialists must be competent in a variety of disciplines such as computer science, biology, mathematics, and statistics, making(More)
ing the duplication generates increased levels of EFNB1 transcript , compared to the normal chromosome. We also show that imbalance of ephrin-B1 between X chromosomes in a mouse model containing a hypomorphic Efnb1 conditional allele results in aberrant cell mixing of the cranial primordia during development and hypertelorism. Taken together these data(More)
combinations, and identified those genes specifically involved in the disease and minimizing variations between samples and different cell cultures. The comparison between control and NSCL/P patients yielded 56 genes. Subsequent signaling pathway analyses involving the identified genes, suggested involvement of three different pathways. In particular, we(More)
Data clustering methods have become standard techniques in the analysis of gene expression data. They are used in a variety of tasks ranging from simple data pre- treatment for posterior analysis to the identification of important information, such as gene function and/or the participation of a group of genes in a given biological process. Data clustering(More)
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