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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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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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BRD7 facilitates ferroptosis via modulating clusterin promoter hypermethylation and suppressing AMPK signaling in diabetes-induced testicular damage
BackgroundDiabetes mellitus (DM)-induced testicular damage is associated with sexual dysfunction and male infertility in DM patients. However, the...
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RNA editing regulates glutamatergic synapses in the frontal cortex of a molecular subtype of Amyotrophic Lateral Sclerosis
BackgroundAmyotrophic Lateral Sclerosis (ALS) is a highly heterogenous neurodegenerative disorder that primarily affects upper and lower motor...
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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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The interplay of inflammation and remyelination: rethinking MS treatment with a focus on oligodendrocyte progenitor cells
BackgroundMultiple sclerosis (MS) therapeutic goals have traditionally been dichotomized into two distinct avenues: immune-modulatory-centric...
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Disruption of neural periodicity predicts clinical response after deep brain stimulation for obsessive-compulsive disorder
Recent advances in surgical neuromodulation have enabled chronic and continuous intracranial monitoring during everyday life. We used this...
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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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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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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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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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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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Introduction and impact of routine whole genome sequencing in the diagnosis and management of sarcoma
BackgroundSarcomas are diverse neoplasms with highly variable histological appearances in which diagnosis is often challenging and management options...
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An evidence-based screening tool for heart failure with preserved ejection fraction: the HFpEF-ABA score
Heart failure with preserved ejection fraction (HFpEF) is under-recognized in clinical practice. Although a previously developed risk score, termed H 2 ...
