MitoZoa is a relational database collecting curated metazoan entries of complete or nearly complete mitochondrial genomes (mtDNA), specifically designed to assist comparative studies of mitochondrial genome-level features in a given taxon or in congeneric species of Metazoa. The principal novelties of MitoZoa are extensive corrections/improvements of the mtDNA annotations and the possibility of easily searching for data on: (1) gene order, a genomic feature useful as phylogenetic marker; (2) sequence, size and location of non-coding regions, likely containing the regulatory signals for mtDNA replication and transcription; (3) mt features/sequences of congeneric species, where saturation phenomena in nucleotide substitutions and gene order changes are expected to be absent or at least minimal. In addition, MitoZoa allows the exploration of basic mt features such as molecule topology, genetic code, gene content, and compositional parameters of the entire genome. Finally, in order to facilitate downstream analyses of retrieved data, MitoZoa entry lists can be visualized and downloaded in a tabular format, while sequences and gene order data are provided in FASTA and FASTA-like formats, respectively. The MitoZoa database is available at http://www.caspur.it/mitozoa.
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http://dx.doi.org/10.1016/j.mito.2010.01.004 | DOI Listing |
J Clin Transl Endocrinol
December 2024
Department of Medical and Surgical Sciences (DIMEC), University of Bologna, 40138 Bologna, Italy.
Thanks to the identification of crucial molecular pathways, the therapeutic landscape for advanced differentiated thyroid tumors (DTCs) has significantly improved during the last ten years. The therapeutic scenario has been greatly impacted by the discovery of mutually exclusive gene changes in the MAPK and PI3K/AKT pathways, such as or fusions and pathogenic mutations of the and genes. Indeed, multi-kinase inhibitors and selective inhibitors have demonstrated outstanding efficacy for radioactive iodine-refractory (RAI-R) drug treatment, with overall response rates reaching up to 86%.
View Article and Find Full Text PDFMYT1L syndrome is a newly recognized disorder characterized by intellectual disability, speech and motor delay, neuroendocrine disruptions, ADHD, and autism. In order to study this gene and its association with these phenotypes, our lab recently created a heterozygous mutant mouse inspired by a clinically relevant mutation. This model recapitulates several of the physical and neurologic abnormalities seen in humans with MYT1L syndrome, such as weight gain, microcephaly, and behavioral disruptions.
View Article and Find Full Text PDFIn this paper, we attempt to answer two questions: 1) which regions of the human brain, in terms of morphometry, are most strongly related to individual differences in domain-general cognitive functioning ( )? and 2) what are the underlying neurobiological properties of those regions? We meta-analyse vertex-wise -cortical morphometry (volume, surface area, thickness, curvature and sulcal depth) associations using data from 3 cohorts: the UK Biobank (UKB), Generation Scotland (GenScot), and the Lothian Birth Cohort 1936 (LBC1936), with the meta-analytic = 38,379 (age range = 44 to 84 years old). These morphometry associations vary in magnitude and direction across the cortex (|β| range = -0.12 to 0.
View Article and Find Full Text PDFOphthalmic Genet
January 2025
Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
Introduction: Due to the recent advent of gene-targeted retinal therapies, the clinical value of high-yield genetic testing for inherited retinal dystrophies (IRDs) has increased considerably. However, diagnostic yield is limited by the reported patient populations in allele frequency databases. This study aimed to determine the effect of race and ethnicity on diagnostic yield in IRDs.
View Article and Find Full Text PDFBirth Defects Res
January 2025
Department of Zoology, University of Calcutta, Kolkata, India.
Background: Neural tube defects (NTDs) are defined as an incomplete closure of the neural tube (NT), with a prevalence of 1.2 per 1000 live births around the world. Methylation of the maternally imprinted gene Insulin-like growth factor 2 (IGF2) is one of the epigenetic mechanisms that contribute significantly to the development of NTDs.
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