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3881
Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease
Published 2024-11-01“…Abstract Pathogenic variants in either the mitochondrial or nuclear genomes are associated with a diverse group of human disorders characterized by impaired mitochondrial function. …”
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3882
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3883
Imprinting and Promoter Usage of Insulin-Like Growth Factor II in Twin Discordant Placenta
Published 2010-01-01“…Case reports from infant twins suggest that abnormal genomic imprinting may be one of the important causes of twin discordance, but it is unknown whether abnormal genomic imprinting occurs in the placenta. …”
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3884
Cytogenetic Evolution of Human Ovarian Cell Lines Associated with Chemoresistance and Loss of Tumorigenicity
Published 2003-01-01“…In order to identify genomic changes associated with a resistant phenotype acquisition, we used comparative genomic hybridization (CGH) to compare a human ovarian cell line, Igrov1, and four derived subcell lines, resistant to vincristine and presenting a reversion of malignant properties. …”
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3885
Sirtuins, Bioageing, and Cancer
Published 2011-01-01“…Typically, Sirtuins have been implicated in the preservation of genomic stability and in the prolongation of lifespan though many of their target interactions remain unknown. …”
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3886
Geographic variation in abundance and diversity of Acinetobacter baumannii Vieuvirus bacteriophages
Published 2025-01-01“…These were analyzed with 967 prophages identified from various isolates worldwide, plus 21 genomes of other phages infecting A. baumannii previously reported in NCBI. …”
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3887
Evaluation of Fomitopsis betulina strains for growth on different media and exopolysaccharide production
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3889
The Occurrence and Diversity of Viruses Identified in Monocotyledonous Weeds
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3890
Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region
Published 2025-01-01“…Conclusion: This study identified novel candidate disease genes and inheritance model that could explain the underlying phenotypes that could open the doors for a better-guided genomic approach for personalized treatment and early diagnosis. …”
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3891
ADAM-multi: software to simulate complex breeding programs for animals and plants with different ploidy levels and generalized genotypic effect models to account for multiple allel...
Published 2025-02-01“…Along with the description of the updated simulation model in ADAM-Multi, this paper shows two small-scale studies that investigate the effects of multi-allelic versus bi-allelic assumptions in simulation and the use of different prediction models in a single-population breeding program for potatoes. We found that genomic models using dense bi-allelic markers could effectively predicted breeding values of individuals in a well-structure population despite the presence of multi-allelic QTL. …”
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Androgen Effects on the Adrenergic System of the Vascular, Airway, and Cardiac Myocytes and Their Relevance in Pathological Processes
Published 2020-01-01“…The genomic effects implicate the binding to a cytosolic AR, leading to protein synthesis. …”
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3896
The grapevine ABC transporter B family member 15 is a trans-resveratrol transporter out of grapevine cells
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3897
Genetic parameters and parental and early-life effects of boar semen traits
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An Age-Related Hearing Protection Locus on Chromosome 16 of BXD Strain Mice
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