Viviana Caputo

Pubblicazioni

Titolo Pubblicato in Anno
Small RNAs and tooth development: the role of microRNAs in tooth agenesis and impaction JOURNAL OF DENTAL SCIENCES 2024
Exploring non-coding genetic variability in ACE2: Functional annotation and in vitro validation of regulatory variants GENE 2024
Dominantly acting variants in vacuolar ATPase subunits impair lysosomal/autophagolysosome function causing a multisystemic disorder with neurocognitive impairment and multiple congenital anomalies HGG ADVANCES 2024
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline AMERICAN JOURNAL OF HUMAN GENETICS 2024
Unconventional p65/p52 NF-κB module regulates key tumor microenvironment-related genes in breast tumor-associated macrophages (TAMs) LIFE SCIENCES 2024
Biallelic variants of MRPS36 cause a new form of Leigh syndrome MOVEMENT DISORDERS 2024
Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case–control study EPILEPSIA 2024
Long-term consequences of reduced availability and compensatory supplementation of sialylated HMOs on cognitive capabilities FRONTIERS IN CELLULAR NEUROSCIENCE 2023
Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease EUROPEAN JOURNAL OF MEDICAL GENETICS 2023
Additional lesions identified by genomic microarrays are associated with an inferior outcome in low-risk chronic lymphocytic leukaemia patients BRITISH JOURNAL OF HAEMATOLOGY 2023
Protection against Ischemic Heart Disease: A Joint Role for eNOS and the KATP Channel INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 2023
APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants NATURE COMMUNICATIONS 2023
Investigating Mitochondrial Gene Expression Patterns in Drosophila melanogaster Using Network Analysis to Understand Aging Mechanisms APPLIED SCIENCES 2023
MiRLog and dbmiR: Prioritization and functional annotation tools to study human microRNA sequence variants HUMAN MUTATION 2022
Potassium Channel {KCNH}1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis MOLECULAR NEUROBIOLOGY 2022
KDM6A missense variants hamper H3 histone demethylation in lung squamous cell carcinoma COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL 2022
Clinical Risk Factors for Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome: A Longitudinal Single-Center Study GENES 2022
MitImpact 3: modeling the residue interaction network of the Respiratory Chain subunits NUCLEIC ACIDS RESEARCH 2021
GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations BONE 2021
Sialylated human milk oligosaccharides program cognitive development through a non-genomic transmission mode MOLECULAR PSYCHIATRY 2021

Progetti di Ricerca

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