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View article: Urban Health Assessment Through a Planetary Health Perspective: Methods and First Results from the Rome NBFC Experiment
Urban Health Assessment Through a Planetary Health Perspective: Methods and First Results from the Rome NBFC Experiment Open
Addressing the planetary crisis associated with climate change, biodiversity loss, global pollution, and public health requires novel and holistic approaches. Here, we present the methodology and initial results of an experiment conducted …
View article: Deep Learning for Decision Support in Ovarian Cancer Treatment Planning
Deep Learning for Decision Support in Ovarian Cancer Treatment Planning Open
Ovarian cancer is the deadliest gynecologic malignancy worldwide, with a 5-year overall survival rate of approximately 49%. Although complete resection is associated with the most favorable prognosis following primary debulking surgery, ac…
View article: Electromagnetic Transduction Therapy (EMTT) Enhances Tenocyte Regenerative Potential: Evidence for Senolytic-like Effects and Matrix Remodeling
Electromagnetic Transduction Therapy (EMTT) Enhances Tenocyte Regenerative Potential: Evidence for Senolytic-like Effects and Matrix Remodeling Open
Tendinopathies are a significant challenge in musculoskeletal medicine, with current treatments showing variable efficacy. Electromagnetic transduction therapy (EMTT) has emerged as a promising therapeutic approach, but its biological effe…
View article: Deciphering the Transcriptional Metabolic Profile of Adipose-Derived Stem Cells During Osteogenic Differentiation and Epigenetic Drug Treatment
Deciphering the Transcriptional Metabolic Profile of Adipose-Derived Stem Cells During Osteogenic Differentiation and Epigenetic Drug Treatment Open
Adipose-derived mesenchymal stem cells (ASCs) are commonly employed in clinical treatment for various diseases due to their ability to differentiate into multi-lineage and anti-inflammatory/immunomodulatory properties. Preclinical studies …
View article: Polyethylene Micro/Nanoplastics Exposure Induces Epithelial–Mesenchymal Transition in Human Bronchial and Alveolar Epithelial Cells
Polyethylene Micro/Nanoplastics Exposure Induces Epithelial–Mesenchymal Transition in Human Bronchial and Alveolar Epithelial Cells Open
Micro/nanoplastics (MNPs), which are widely spread in the environment, have gained attention because of their ability to enter the human body mainly through ingestion, inhalation, and skin contact, thus representing a serious health threat…
View article: SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline Open
View article: Exploring non-coding genetic variability in ACE2: Functional annotation and in vitro validation of regulatory variants
Exploring non-coding genetic variability in ACE2: Functional annotation and in vitro validation of regulatory variants Open
View article: Small RNAs and tooth development: The role of microRNAs in tooth agenesis and impaction
Small RNAs and tooth development: The role of microRNAs in tooth agenesis and impaction Open
View article: Additional lesions identified by genomic microarrays are associated with an inferior outcome in low‐risk chronic lymphocytic leukaemia patients
Additional lesions identified by genomic microarrays are associated with an inferior outcome in low‐risk chronic lymphocytic leukaemia patients Open
Summary We explored the relevance of genomic microarrays (GM) in the refinement of prognosis in newly diagnosed low‐risk chronic lymphocytic leukaemia (CLL) patients as defined by isolated del(13q) or no lesions by a standard 4 probe fluor…
View article: Long-term consequences of reduced availability and compensatory supplementation of sialylated HMOs on cognitive capabilities
Long-term consequences of reduced availability and compensatory supplementation of sialylated HMOs on cognitive capabilities Open
Breast milk (BM) is the optimal source of nutrition for mammals’ early life. It exerts multiple benefits, including the development of cognitive capabilities and protection against several diseases like obesity and infection of the respira…
View article: Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis
Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis Open
The primary cilium is a non-motile sensory organelle that extends from the surface of most vertebrate cells and transduces signals regulating proliferation, differentiation, and migration. Primary cilia dysfunctions have been observed in c…
View article: MiRLog and dbmiR: Prioritization and functional annotation tools to study human microRNA sequence variants
MiRLog and dbmiR: Prioritization and functional annotation tools to study human microRNA sequence variants Open
The recent identification of noncoding variants with pathogenic effects suggests that these variations could underlie a significant number of undiagnosed cases. Several computational methods have been developed to predict the functional im…
View article: MiRLog and dbmiR: prioritization and functional annotation tools to study human microRNA sequence variants
MiRLog and dbmiR: prioritization and functional annotation tools to study human microRNA sequence variants Open
dbmiR is a comprehensive database for functional annotation of miRNA SNVs (Single Nucleotide Variants). It includes a precompiled list of all possible miRNA allelic SNVs, providing their biological annotations at nucleotide and miRNA level…
View article: MiRLog and dbmiR: prioritization and functional annotation tools to study human microRNA sequence variants
MiRLog and dbmiR: prioritization and functional annotation tools to study human microRNA sequence variants Open
dbmiR is a comprehensive database for functional annotation of miRNA SNVs (Single Nucleotide Variants). It includes a precompiled list of all possible miRNA allelic SNVs, providing their biological annotations at nucleotide and miRNA level…
View article: Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis
Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges—Systematic Review of the Literature and Meta-Analysis Open
Fetal malformations occur in 2–3% of pregnancies. They require invasive procedures for cytogenetics and molecular testing. “Structural anomalies” include non-transient anatomic alterations. “Soft markers” are often transient minor ultrasou…
View article: Exposure to 3′Sialyllactose-Poor Milk during Lactation Impairs Cognitive Capabilities in Adulthood
Exposure to 3′Sialyllactose-Poor Milk during Lactation Impairs Cognitive Capabilities in Adulthood Open
Breast milk exerts pivotal regulatory functions early in development whereby it contributes to the maturation of brain and associated cognitive functions. However, the specific components of maternal milk mediating this process have remain…
View article: Sialylated human milk oligosaccharides program cognitive development through a non-genomic transmission mode
Sialylated human milk oligosaccharides program cognitive development through a non-genomic transmission mode Open
View article: GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations
GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations Open
View article: Heterozygous nonsense <i>ARX</i> mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co‐inheritance
Heterozygous nonsense <i>ARX</i> mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co‐inheritance Open
Background Corpus callosum agenesis (ACC) is one of the most frequent Central Nervous System (CNS) malformations. However, genetics underlying isolated forms is still poorly recognized. Here, we report on two female familial cases with par…
View article: Genomic and physiological resilience in extreme environments are associated with a secure attachment style
Genomic and physiological resilience in extreme environments are associated with a secure attachment style Open
View article: Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism
Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism Open
View article: Prenatal whole exome sequencing detects a new homozygous fukutin <i>(FKTN)</i> mutation in a fetus with an ultrasound suspicion of familial Dandy–Walker malformation
Prenatal whole exome sequencing detects a new homozygous fukutin <i>(FKTN)</i> mutation in a fetus with an ultrasound suspicion of familial Dandy–Walker malformation Open
Background Posterior fossa malformations are among the most diagnosed central nervous system (CNS) anomalies detected by ultrasound (US) in prenatal age. We identified the pathogenic gene mutation in a male fetus of 17 weeks of gestation w…
View article: Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegeneration
Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegeneration Open
This study offers an accurate clinical characterization of this recently recognized neurodegenerative disorder caused by biallelic inactivating mutations in SQSTM1 and links this phenotype to defective selective autophagy.
View article: Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies Open