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Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center
Published 2025-01-01“…Advanced molecular technologies point to genomic sequencing as an alternative and feasible strategy for the screening of genetic diseases, including IMDs. …”
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Clinical and Pathological Roles of Ro/SSA Autoantibody System
Published 2012-01-01Get full text
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Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients
Published 2021-01-01“…Panel-based exome sequencing was performed with the Illumina HiSeq X-Ten platform, and then the identified variants were confirmed with Sanger sequencing and evaluated according to the American College of Medical Genetics and Genomics (ACMG) criteria. Results. Three likely pathogenic variants were found. …”
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Rapid expansion and specialization of the TAS2R bitter taste receptor family in amphibians.
Published 2025-01-01“…Here, we identify 9,291 TAS2Rs from 661 vertebrate genomes. Large-scale phylogenomic analyses reveal that frogs and salamanders contain unusually high TAS2R gene content, in stark contrast to other vertebrate lineages. …”
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Treatment-Resistant Hepatitis C Viral Infection: A Case Report and Literature Review
Published 2022-01-01“…More recently, in 2013, more effective DAAs, with pan-genomic properties, have been introduced, and these regimens boast increasing rates of SVR. …”
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Molecular and cellular characteristics of cerebrovascular cell types and their contribution to neurodegenerative diseases
Published 2025-01-01“…With the advent of single cell genomics, it is now possible to interrogate the molecular characteristics of diverse cell populations and their alterations in diseased states. …”
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TCfinder: Robust tumor cell discrimination in scRNA‐seq based on gene pathway activity
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Implications of intratumoral microbiota in tumor metastasis: a special perspective of microorganisms in tumorigenesis and clinical therapeutics
Published 2025-02-01“…Intratumoral microbiota can modulate tumor progression through multiple mechanisms, including regulating immune responses, inducing genomic instability and gene mutations, altering metabolic pathways, controlling epigenetic pathways, and disrupting cancer-related signaling pathways. …”
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Gut microbial profiles of patients with optic neuritis or myasthenia gravis
Published 2025-02-01“…Methods Stool samples were collected from 45 patients with ON, 13 patients with MG, and 20 healthy controls. Microbial genomic DNA was extracted, and the V3–V4 regions of bacterial 16S rRNA genes were amplified and sequenced. …”
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Genetic screening of South African families with Parkinson’s disease
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Genetic Alterations in Presumptive Precursor Lesions of Breast Carcinomas
Published 2002-01-01“…In IDH lesions loss of heterozygosity (LOH) at various loci could be identified, and comparative genomic hybridization (CGH) and fluorescence in situhybridization (FISH) studies delivered evidence for DNA amplification on chromosomal region 20q13 in the early stage of IDH. …”
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Proper 5'-3' cotranslational mRNA decay in yeast requires import of Xrn1 to the nucleus.
Published 2025-01-01“…Furthermore, a principal component analysis of the genomic datasets of this mutant and other Xrn1 mutants also shows that lack of a cytoplasmic 5'→3' exoribonuclease is the primary cause of the physiological defects seen in a xrn1Δ mutant, but also suggests that Xrn1 import into the nucleus is necessary for its full in vivo functions.…”
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Rare Suprasellar Chordoid Meningioma with INI1 Gene Mutation
Published 2017-09-01“…Total surgical excision of the tumour was performed and subsequent histological examination of the tumour showed typical histology pattern of chordoid meningioma grade II according to the WHO classification system of meningiomas. Genomic DNA was extracted and mutation analysis for INI1 gene using primer of exon 4, 5, 7, and 9 showed mutation involving exon 9. …”
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