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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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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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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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Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery
BackgroundOne of the major hurdles in clinical genetics is interpreting the clinical consequences associated with germline missense variants in...
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Expanding the phenotypic spectrum of CC2D2A-related ciliopathies: a rare homozygous nonsense variant in a patient with suspected nephronophthisis
Biallelic pathogenic variants in the gene CC2D2A cause a spectrum of ciliopathies, including Joubert and Meckel syndrome, which frequently involve...
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Pharmacogenetics in Italy: current landscape and future prospects
Pharmacogenetics investigates sequence of genes that affect drug response, enabling personalized medication. This approach reduces drug-induced...
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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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Clinical and genomic features of Mycobacterium avium complex: a multi-national European study
BackgroundThe Mycobacterium avium complex (MAC) comprises the most frequent non-tuberculous mycobacteria (NTM) in Central Europe and currently...
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Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations
BackgroundCongenital myopathies are severe genetic diseases with a strong impact on patient autonomy and often on survival. A large number of...
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An investigation of the molecular characterization of the tripartite motif (TRIM) family and primary validation of TRIM31 in gastric cancer
Most TRIM family members characterized by the E3-ubiquitin ligases, participate in ubiquitination and tumorigenesis. While there is a dearth of a...
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Lateral root enriched Massilia associated with plant flowering in maize
BackgroundBeneficial associations between plants and soil microorganisms are critical for crop fitness and resilience. However, it remains obscure...
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Generative Modelling of Cortical Receptor Distributions from Cytoarchitectonic Images in the Macaque Brain
Neurotransmitter receptor densities are relevant for understanding the molecular architecture of brain regions. Quantitative in vitro receptor...
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Classifying Neuronal Cell Types Based on Shared Electrophysiological Information from Humans and Mice
The brain is an intricate system that controls a variety of functions. It consists of a vast number of cells that exhibit diverse characteristics. To...
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Using a new analytic approach for genoty** and phenoty** chromosome 9p deletion syndrome
Using a new analytic method (“unique non-overlap** region” (UNOR) analysis), we characterized the genotypes and phenotypes of a large cohort of...
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Genetic therapies for cardiomyopathy: survey of attitudes of the patient community for the CureHeart project
Cardiomyopathies are a group of inherited heart muscle disorders. Expressivity is variable and while sometimes mild, complications can result in...
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Cultivation of novel Atribacterota from oil well provides new insight into their diversity, ecology, and evolution in anoxic, carbon-rich environments
BackgroundThe Atribacterota are widely distributed in the subsurface biosphere. Recently, the first Atribacterota isolate was described and the...
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Fecal microbiota transplantation alters gut phage communities in a clinical trial for obesity
BackgroundFecal microbiota transplantation (FMT) is a therapeutic intervention used to treat diseases associated with the gut microbiome. In the...
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Metatranscriptomics-guided genome-scale metabolic reconstruction reveals the carbon flux and trophic interaction in methanogenic communities
BackgroundDespite rapid advances in genomic-resolved metagenomics and remarkable explosion of metagenome-assembled genomes (MAGs), the function of...
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Validation of Nanopore long-read sequencing to resolve RPGR ORF15 genotypes in individuals with X-linked retinitis pigmentosa
X-linked retinitis pigmentosa (XLRP) is characterized by progressive vision loss leading to legal blindness in males and a broad severity spectrum in...
