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Psychological and ethical issues raised by genomic in paediatric care pathway, a qualitative analysis with parents and childhood cancer patients
In paediatric oncology, genomics raises new ethical, legal and psychological issues, as somatic and constitutional situations intersect throughout...
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Effect of α7 nAChR-autophagy axis of deciduous tooth pulp stem cells in regulating IL-1β in the process of physiological root resorption of deciduous teeth
AbstractPhysiological root resorption of deciduous teeth is a normal phenomenon occurring during the developmental stages of children. Previous...
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Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer
Germline mutations in BRCA1 and BRCA2 (g BRCA1/2 ) are required for a PARP inhibitor therapy in patients with HER2-negative (HER2−) advanced breast...
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First Insight into the Phylogenetic Diversity of Bovicola caprae Infesting Goats of Different Agro-climatic Locations in India
Bovicola caprae is an important obligate ectoparasite of goats worldwide including India. The present study aimed at the molecular confirmation,...
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Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?
BackgroundMesomelia-Synostoses Syndrome (MSS)(OMIM 600,383) is a rare autosomal dominant disorder characterized by mesomelic limb shortening, acral...
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Gut Microbiota in Primary Osteoporosis: a Systematic Review
The link between gut microbiota (GM) and primary osteoporosis has garnered substantial attention. In this study, we conducted a systematic review...
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Optimization of Total DNA Extraction from Dried Blood Samples
While dried blood spots are a convenient source of genetic material, they are usually associated with a lower DNA yield than from a native sample....
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A systematic strategy for identifying causal single nucleotide polymorphisms and their target genes on Juvenile arthritis risk haplotypes
BackgroundAlthough genome-wide association studies (GWAS) have identified multiple regions conferring genetic risk for juvenile idiopathic arthritis...
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Identification of key molecular pathways and genes in BRCA1 and BRCA2-mutant ovarian cancer: evidence from bioinformatics analysis
BRCA1 and BRCA2 mutations significantly increase the risk of breast and ovarian cancers (OC) by affecting crucial cellular processes such as cell...
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Contribution of plasma levels of VEGF-A and angiopoietin-2 in addition to a genetic variant in KCNAB1 to predict the risk of bevacizumab-induced hypertension
Bevacizumab-induced hypertension poses a therapeutic challenge and identifying biomarkers for hypertension can enhance therapy safety. Lower plasma...
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Identification of HOXC Gene Family as Prognostic and Immune-Related Biomarkers in Breast Cancer Through mRNA Transcriptional Profile and Experimental Validation
Breast cancer (BC) is the most common malignancy in women worldwide, and more effective biomarkers are urgently needed for the prevention and...
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Genomic predictions of genetic variances and correlations among traits for breeding crosses in soybean
Parental selection is perhaps the most critical decision a breeder makes, establishing the foundation of the entire program for years to come. Cross...
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Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations
Myhre syndrome (MS, MIM 139210) is a rare multisystemic disorder caused by recurrent pathogenic missense variants in SMAD4 . The clinical features...
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How the brain can be trained to achieve an intermittent control strategy for stabilizing quiet stance by means of reinforcement learning
The stabilization of human quiet stance is achieved by a combination of the intrinsic elastic properties of ankle muscles and an active closed-loop...
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Neutrophil-secreted S100A8/A9 participates in fatty liver injury and fibrosis by promoting myofibroblast migration
AbstractFatty liver, which is induced by abnormal lipid metabolism, is one of the most common causes of chronic liver disease globally and causes...
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Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein
The clinical diagnosis of patients with multisystem involvement including a pronounced neurologic damage is challenging. High-throughput sequencing...
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Characteristics of the Structural Connectivity in Patients with Brain Injury and Chronic Health Symptoms: A Pilot Study
Diffusion properties from diffusion tensor imaging (DTI) are exquisitely sensitive to white matter abnormalities incurred during traumatic brain...
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