Claudia Rita Catacchio
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View article: Role of US elastography in the diagnosis of breast cancer
Role of US elastography in the diagnosis of breast cancer Open
Introduction Elastography is a clinical imaging technique that assesses tissue stiffness by comparing the elasticity of a target region with that of surrounding tissue. In breast imaging, it is employed to evaluate the stiffness of breast …
View article: Identification and Characterization of a Novel Biallelic <scp>SLC12A2</scp> Variant Associated With Kilquist Syndrome ( <scp>OMIM</scp> #619080)
Identification and Characterization of a Novel Biallelic <span>SLC12A2</span> Variant Associated With Kilquist Syndrome ( <span>OMIM</span> #619080) Open
This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, a…
View article: The BioSUD Biobank as a genomic resource for substance use disorders in Italy
The BioSUD Biobank as a genomic resource for substance use disorders in Italy Open
View article: CENdetectHOR: a comprehensive tool for CENtromere profiling and HOR detection
CENdetectHOR: a comprehensive tool for CENtromere profiling and HOR detection Open
Centromeres are essential for accurate chromosome segregation and are characterized by long arrays of repetitive satellite DNA, showing extensive variation in sequence, length, and organization across species. Despite extensive research, f…
View article: Clinical and genomic profiling of a patient with a de novo ring chromosome 18: a case report highlighting autoimmune and neurological implications
Clinical and genomic profiling of a patient with a de novo ring chromosome 18: a case report highlighting autoimmune and neurological implications Open
Ring chromosome 18 (r(18)) is a rare chromosomal abnormality characterized by the circular rearrangement of chromosome 18, which presents significant challenges in genotype-phenotype correlations due to variability in deletions across the …
View article: Clinical and genomic profiling of a patient with a de novo ring chromosome 18: A case report highlighting autoimmune and neurological implications
Clinical and genomic profiling of a patient with a de novo ring chromosome 18: A case report highlighting autoimmune and neurological implications Open
Ring chromosome 18 (r(18)) is a rare chromosomal abnormality characterized by the circular rearrangement of chromosome 18, which presents significant challenges in genotype-phenotype correlations due to the variability in deletions across …
View article: The BioSUD Biobank: A genomic resource for Substance Use Disorders in Italy
The BioSUD Biobank: A genomic resource for Substance Use Disorders in Italy Open
Substance Use Disorders (SUDs) are a significant public health concern with complex etiologies involving genetic, environmental, and psychological factors. Here we present BioSUD, a biobank that, by integrating genomic data with comprehens…
View article: Automated Breast Ultrasound for Evaluating Response to Neoadjuvant Therapy: A Comparison with Magnetic Resonance Imaging
Automated Breast Ultrasound for Evaluating Response to Neoadjuvant Therapy: A Comparison with Magnetic Resonance Imaging Open
Background: Neoadjuvant chemotherapy (NAC) is currently used for treating breast cancer in selected cases. Our study aims to evaluate the role of automated breast ultrasound (ABUS) in the assessment of response to NAC and compare the ABUS …
View article: The variation and evolution of complete human centromeres
The variation and evolution of complete human centromeres Open
View article: On the Way to the Technological Development of Newly Selected Non-Saccharomyces Yeasts Selected as Innovative Biocontrol Agents in Table Grapes
On the Way to the Technological Development of Newly Selected Non-Saccharomyces Yeasts Selected as Innovative Biocontrol Agents in Table Grapes Open
Post-harvest decay of fresh table grapes causes considerable annual production losses. The main fungal agents of decay both in pre- and post-harvest are B. cinerea, Penicillium spp., Aspergillus spp., Alternaria spp., and Cladosporium spp.…
View article: A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features
A Rare Case of Concurrent 2q34q36 Duplication and 2q37 Deletion in a Neonate with Syndromic Features Open
Large-scale genomic structural variations can have significant clinical implications, depending on the specific altered genomic region. Briefly, 2q37 microdeletion syndrome is a prevalent subtelomeric deletion disorder characterized by var…
View article: Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus
Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus Open
The impact of segmental duplications on human evolution and disease is only just starting to unfold, thanks to advancements in sequencing technologies that allow for their discovery and precise genotyping. The 15q11-q13 locus is a hotspot …
View article: Iatrogenic Barotrauma in COVID-19-Positive Patients: Is It Related to the Pneumonia Severity? Prevalence and Trends of This Complication Over Time
Iatrogenic Barotrauma in COVID-19-Positive Patients: Is It Related to the Pneumonia Severity? Prevalence and Trends of This Complication Over Time Open
COVID-19 has attracted worldwide attention ever since the first case was identified in Wuhan (China) in December 2019 and was classified, at a later time, as a public health emergency of international concern in January 2020 and as a pande…
View article: A high-resolution map of small-scale inversions in the gibbon genome
A high-resolution map of small-scale inversions in the gibbon genome Open
Gibbons are the most speciose family of living apes, characterized by a diverse chromosome number and rapid rate of large-scale rearrangements. Here we performed single-cell template strand sequencing (Strand-seq), molecular cytogenetics, …
View article: Human centromere repositioning activates transcription and opens chromatin fibre structure
Human centromere repositioning activates transcription and opens chromatin fibre structure Open
Human centromeres appear as constrictions on mitotic chromosomes and form a platform for kinetochore assembly in mitosis. Biophysical experiments led to a suggestion that repetitive DNA at centromeric regions form a compact scaffold necess…
View article: Genome characterization and CRISPR-Cas9 editing of a human neocentromere
Genome characterization and CRISPR-Cas9 editing of a human neocentromere Open
View article: Human centromere formation activates transcription and opens chromatin fibre structure
Human centromere formation activates transcription and opens chromatin fibre structure Open
Human centromeres appear as constrictions on mitotic chromosomes and form a platform for kinetochore assembly in mitosis. Biophysical experiments led to a suggestion that repetitive DNA at centromeric regions form a compact scaffold necess…
View article: A systematic mapping study on machine learning techniques for the prediction of CRISPR/Cas9 sgRNA target cleavage
A systematic mapping study on machine learning techniques for the prediction of CRISPR/Cas9 sgRNA target cleavage Open
View article: Genomic and Personalized Medicine Approaches for Substance Use Disorders (SUDs) Looking at Genome-Wide Association Studies
Genomic and Personalized Medicine Approaches for Substance Use Disorders (SUDs) Looking at Genome-Wide Association Studies Open
Drug addiction, or substance use disorder (SUD), is a chronic, relapsing disorder in which compulsive drug-seeking and drug-taking behaviour persist despite serious negative consequences. Drug abuse represents a problem that deserves great…
View article: Human centromere formation activates transcription and opens chromatin fibre structure
Human centromere formation activates transcription and opens chromatin fibre structure Open
Human centromeres appear as constrictions on mitotic chromosomes and form a platform for kinetochore assembly in mitosis. Biophysical experiments led to a suggestion that repetitive DNA at centromeric regions form a compact scaffold necess…
View article: A high-quality bonobo genome refines the analysis of hominid evolution
A high-quality bonobo genome refines the analysis of hominid evolution Open
View article: 7q35q36.3 deletion and concomitant 20q13.2q13.33 duplication in a newborn: familiar case.
7q35q36.3 deletion and concomitant 20q13.2q13.33 duplication in a newborn: familiar case. Open
The Array-CGH allowed us to understand that the loss of several genes is expressed with clinical manifestations due to the concomitance of several syndromes, each related to the malfunction of a "specific disease gene". For these reasons, …
View article: Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility
Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility Open
A high-quality rhesus macaque genome Genome technology has improved substantially since the first full organismal genomes were generated. Applying new technology, Warren et al. refined the genome of the rhesus macaque, a model nonhuman pri…
View article: Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution
Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution Open
Rhesus macaque is an Old World monkey that shared a common ancestor with human ∼25 Myr ago and is an important animal model for human disease studies. A deep understanding of its genetics is therefore required for both biomedical and evolu…
View article: An evolutionary driver of interspersed segmental duplications in primates
An evolutionary driver of interspersed segmental duplications in primates Open
View article: The establishment of a fungal consortium in a new winery
The establishment of a fungal consortium in a new winery Open
View article: Evolutionary Dynamics of the POTE Gene Family in Human and Nonhuman Primates
Evolutionary Dynamics of the POTE Gene Family in Human and Nonhuman Primates Open
POTE (prostate, ovary, testis, and placenta expressed) genes belong to a primate-specific gene family expressed in prostate, ovary, and testis as well as in several cancers including breast, prostate, and lung cancers. Due to their tumor-s…
View article: Colonization of Wild Saccharomyces cerevisiae Strains in a New Winery
Colonization of Wild Saccharomyces cerevisiae Strains in a New Winery Open
The aim of this work was to study the fungal colonization of a new winery over time, specifically for Saccharomyces cerevisiae. Therefore, we analyzed the flora present before the arrival of the first harvest on the floor, the walls and th…
View article: An evolutionary driver of interspersed segmental duplications in primates
An evolutionary driver of interspersed segmental duplications in primates Open
Background The complex interspersed pattern of segmental duplications in humans is responsible for rearrangements associated with neurodevelopmental disease, including the emergence of novel genes important in human brain evolution. We inv…
View article: Additional file 2 of An evolutionary driver of interspersed segmental duplications in primates
Additional file 2 of An evolutionary driver of interspersed segmental duplications in primates Open
Additional file 2: Table S1. List of large-insert clones from OWM, NWM and prosimian lineages. Table S2. List of LCR16a positive clones from apes. Table S3. Sequence contigs generated using large-insert BAC clones. Table S4. Characteristic…