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COQ7 splice site variant causing a spastic paraparesis phenotype in siblings
The COQ7 gene is one of the causative genes for primary COQ10 deficiency-related disorders. OMIM-related phenotypes include severe...
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Short Tandem Repeats in the era of next-generation sequencing: from historical loci to population databases
In this study, we explore the landscape of short tandem repeats (STRs) within the human genome through the lens of evolving technologies to detect...
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Whole-genome analysis reveals distinct adaptation signatures to diverse environments in Chinese domestic pigs
BackgroundLong-term natural and artificial selection has resulted in many genetic footprints within the genomes of pig breeds across distinct...
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Creation and validation of the first infinium DNA methylation array for the human imprintome
BackgroundDifferentially methylated imprint control regions (ICRs) regulate the monoallelic expression of imprinted genes. Their epigenetic...
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Enzymatic degradation of polylactic acid (PLA)
AbstractEnvironmental concerns arising from the increasing use of polluting plastics highlight polylactic acid (PLA) as a promising eco-friendly...
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B Lineage Acute Lymphoblastic Leukemia with concurrent IGH and EPOR rearrangements – An Entity with Dismal Outcome
The EPOR rearrangement, an uncommon cytogenetic abnormality linked to BCR::ABL1 -like B-ALL, is often underdiagnosed due to the absence of a robust...
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Assessment of the Prognostic Importance of The Revised International Staging System Based on Plasmacytoma Presentation in Recently Diagnosed Patients with Multiple Myeloma
The rapid development of fluorescence in situ hybridization (FISH) karyoty** led to the discovery of the significant prognostic impact of certain...
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Oncogenic Gene CNOT7 Promotes Progression and Induces Poor Prognosis of Glioma
Glioma is the most common malignant brain tumor in the central nervous system with the poor prognosis of patients. The CNOT7 (CCR4-NOT Transcription...
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Beauveria bassiana native strains affect the reproductive index of Rhipicephalus microplus ticks
Rhipicephalus microplus poses a significant economic threat due to its role in transmitting Babesia bigemina, B. bovis and Anaplasma marginale ....
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Age-specific composition of milk microbiota in Tibetan sheep and goats
AbstractThis study investigates the dynamic changes in milk nutritional composition and microbial communities in Tibetan sheep and goats during the...
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Comparative proteomics in tall fescue to reveal underlying mechanisms for improving Photosystem II thermotolerance during heat stress memory
BackgroundThe escalating impacts of global warming intensify the detrimental effects of heat stress on crop growth and yield. Among the earliest and...
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Unveiling the untreated: development of a database algorithm to identify potential Fabry disease patients in Germany
BackgroundFabry disease (FD), an X-linked lysosomal storage disorder, is caused by mutations in the gene encoding α-galactosidase A, resulting in...
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Essential components of an effective transition from paediatric to adult neurologist care for adolescents with Duchenne muscular dystrophy; a consensus derived using the Delphi methodology in Eastern Europe, Greece and Israel
PurposeAn increasing number of patients with Duchenne muscular dystrophy (DMD) now have access to improved standard of care and disease modifying...
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Small Non-Coding sRNA53 Modulates the Quorum Sensing System to Enhance Drug Resistance in Escherichia coli Exposed to Heavy Ion and X-ray Irradiation
AbstractSmall non-coding RNAs (sRNAs, also called sncRNAs) known as gene expression regulatory factors are capable of modulating mRNA functions...
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Identification of Immunodominant Epitopes of Dengue Virus 2 Envelope and NS1 Proteins: Evaluating the Diagnostic Potential of a Synthetic Peptide
Background and ObjectiveDengue is a major infectious disease with potential for outbreaks and epidemics. A specific and sensitive diagnosis is a...
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Quadruplex qPCR for detection and discrimination of C. Coli,C. fetus, and C. Jejuni from other Campylobacter species in chicken and sheep meat
Campylobacter is gram-negative bacteria considered the predominant genera isolated from poultry samples and associated with gastroenteritis. Due to...
