Daniela Giachino
A5067345476- Kidney Stones and Urolithiasis Treatments
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Porphyrin Metabolism and Disorders
- Cardiac electrophysiology and arrhythmias
- Biomedical Research and Pathophysiology
- Cancer Genomics and Diagnostics
- Ion channel regulation and function
- Cancer-related Molecular Pathways
- Cell Adhesion Molecules Research
- Chromosomal and Genetic Variations
- Hormonal Regulation and Hypertension
- Genetics and Neurodevelopmental Disorders
- Lung Cancer Treatments and Mutations
- Adrenal Hormones and Disorders
- DNA Repair Mechanisms
- RNA and protein synthesis mechanisms
- PI3K/AKT/mTOR signaling in cancer
- BRCA gene mutations in cancer
- Congenital heart defects research
- Thyroid Cancer Diagnosis and Treatment
- Cardiomyopathy and Myosin Studies
- Colorectal Cancer Treatments and Studies
- Inflammatory Bowel Disease
- Gout, Hyperuricemia, Uric Acid
Ospedale San Luigi Gonzaga
2015-2024
University of Turin
2015-2024
Gonzaga University
2022
Pediatrics and Genetics
2007
University of Siena
2002-2006
Asklepios Fachklinikum Tiefenbrunn
1998
Despite improvements in genomics technology, the detection of structural variants (SVs) from short-read sequencing still poses challenges, particularly for complex variation. Here we analyse genomes two patients with congenital abnormalities using MinION nanopore sequencer and a novel computational pipeline-NanoSV. We demonstrate that long reads are superior to short regard de novo chromothripsis rearrangements. The also enable efficient phasing genetic variations, which leveraged determine...
Structural variation (SV) influences genome organization and contributes to human disease. However, the complete mutational spectrum of SV has not been routinely captured in disease association studies. We sequenced 689 participants with autism disorder (ASD) other developmental abnormalities construct a genome-wide map large SV. Using long-insert jumping libraries at 105X mean physical coverage linked-read whole-genome sequencing from 10X Genomics, we document seven major classes ~5 kb...
We analyzed interleukin (IL) 12 and IL-23 production by monocyte-derived dendritic cells (mono-DCs). Mycobacterium tuberculosis H37Rv zymosan preferentially induced IL-23. but not IL-12 was efficiently the combination of nucleotide-binding oligodimerization domain Toll-like receptor (TLR) 2 ligands, which mimics activation M. tuberculosis, or human dectin-1 ligand β-glucan alone in with TLR2 mimicking induction zymosan. ligands inhibited increased production. DC priming interferon (IFN) γ...
Poorly differentiated carcinomas represent an aggressive group of thyroid tumors with controversial classification placement and poorly understood pathogenesis. Molecular data in this are extremely heterogeneous, possibly reflecting different inclusion criteria. Recently homogeneous diagnostic criteria have been proposed by our (Turin proposal) that need to be complemented detailed molecular characterization.The objective the study was define a comprehensive typing classified following...
The mode of inheritance Alport syndrome (ATS) has long been controversial. In 1927, the disease was hypothesized as a dominant condition in which males were more severely affected than females. 1990, it considered an X-linked (XL) semidominant condition, due to COL4A5 mutations. Later on, rare autosomal recessive (AR) form COL4A3/COL4A4 mutations identified. An (AD) testified recently by description some large pedigrees but real existence this is still questioned many and its exact...
16p11.2 breakpoint 4 to 5 copy number variants (CNVs) increase the risk for developing autism spectrum disorder, schizophrenia, and language cognitive impairment. In this multisite study, we aimed quantify effect of CNVs on brain structure.Using voxel- surface-based morphometric methods, analyzed structural magnetic resonance imaging collected at seven sites from 78 individuals with a deletion, 71 duplication, 212 without CNV.Beyond 16p11.2-related mirror global morphometry, observe regional...
Stringent variant interpretation guidelines can lead to high rates of variants uncertain significance (VUS) for genetically heterogeneous disease like long QT syndrome (LQTS) and Brugada (BrS). Quantitative disease-specific customization American College Medical Genetics Genomics/Association Molecular Pathology (ACMG/AMP) address this false negative rate.We compared rare frequencies from 1847 LQTS (KCNQ1/KCNH2/SCN5A) 3335 BrS (SCN5A) cases the International LQTS/BrS Consortia...
Abstract Purpose: XRCC1 and XPD play key roles in the repair of DNA lesions adducts. Contrasting findings have been reported on effect polymorphisms these genes response to platinum-based chemotherapy advanced non–small-cell lung cancer (NSCLC). This study aimed investigate relationship between Lys751Gln Arg399Gln genotypes outcome patients. Experimental Design: We genotyped 203 NSCLC 45 small-cell carcinoma (SCLC) patients for two polymorphisms. Most (81%) received a chemotherapy. Results:...
Background. Alport syndrome is a clinically and genetically heterogeneous nephropathy characterized by glomerular basement membrane lesions often associated with hearing loss ocular anomalies. While the X-linked autosomal recessive forms are well known, dominant form not acknowledged. Methods. We have investigated 38 patients diagnosis of belonging to eight different families. The analysis COL4A4 gene was performed denaturing high performance liquid chromatography automated DNA sequencing....
Background Array‐comparative genomic hybridization (array‐ CGH ) is a widely used technique to detect copy number variants ( CNVs associated with developmental delay/intellectual disability DD / ID ). Aims Identification of disorders in . Materials and methods We performed comprehensive array‐ investigation 1,015 consecutive cases combined literature mining, genetic evidence, evolutionary constraint scores, functional information order assess the pathogenicity Results identified non‐benign...
Abstract Many copy number variants (CNVs) confer risk for the same range of neurodevelopmental symptoms and psychiatric conditions including autism schizophrenia. Yet, to date neuroimaging studies have typically been carried out one mutation at a time, showing that CNVs large effects on brain anatomy. Here, we aimed characterize quantify distinct morphometry latent dimensions across 8 neuropsychiatric CNVs. We analyzed T1-weighted MRI data from clinically non-clinically ascertained CNV...
AimsShort QT syndrome (SQTS) is a rare arrhythmogenic inherited heart disease. Diagnosis can be challenging in subjects with slightly shortened interval at electrocardiogram. In this study we compared the behaviour during exercise cohort of SQTS patients control group, to evaluate usefulness test diagnosis SQTS.
The genetic pathways involved in medullary thyroid carcinomas (MTC), except for RET mutations, are largely unknown, as is the detailed mapping of proteins activated a consequence tyrosine kinase phosphorylation.The present study was designed to screen presence mutations other genes downstream activation and detect patterns panel intracellular regulators cell growth.Forty-nine cases MTC were analyzed RET, BRAF, N-, H-, K-RAS, phosphatidylinositol-3 (PI3) genes. Immunohistochemical analysis...
Abstract Object Although glucocorticoids are essential for health, several studies have shown that replacement in Addison's disease might be involved anthropometric and metabolic impairment, with increased cardiovascular risk, namely if conventional doses used. As the effects of mediated by glucocorticoid receptor, encoded NR 3 C 1 gene, different polymorphisms gene been linked to altered sensitivity general population as well patients obesity or syndrome. Design We investigated impact...
Maffé A, Toschi B, Circo G, Giachino D, Giglio S, Rizzo Carloni Poletti V, Tomassetti Ginardi C, Ungari Genuardi M. Constitutional FLCN mutations in patients with suspected Birt–Hogg–Dubé syndrome ascertained for non-cutaneous manifestations. (BHDS) is characterized by a clinical triad including cutaneous hamartomas originating from hair follicles, lung cysts/pneumothorax, and kidney tumors. Inactivating of the tumor suppressor gene are identified most families BHDS. Usually, referred...
ABSTRACT PTEN hamartoma tumor syndromes (PHTS) are a spectrum of hamartomatous overgrowth associated with germ‐line mutations in the suppressor gene located on 10q23.3. It is widely accepted that two these disorders, Cowden syndrome and Bannayan–Riley–Ruvalcaba syndrome, allelic conditions. Because not identifiable every case PHTS phenotype, inability to detect mutation within does invalidate clinical diagnosis or patients who meet diagnostic criteria for disorders. an increased risk...
Context Patients with adrenal incidentalomas (AI) may experience detrimental consequences due to a minimal cortisol excess sustained by adenoma. SNPs of the glucocorticoid receptor gene (NR3C1) modulate individual sensitivity glucocorticoids and interfere clinical presentation. Objective To compare frequency N363S, ER22/23EK BclI in patients AI general population evaluate whether these are linked excess. Setting Multicentric, retrospective analysis referred from 2010 2014 4 centers...
A considerable minority of patients on waiting lists for kidney transplantation either have no diagnosis (and fall into the subset undiagnosed cases) because biopsy was not performed or histological findings were non-specific, do any well-defined clinical category. Some these might be affected by a previously unrecognised monogenic disease.Through multidisciplinary cooperative effort, we built an analytical pipeline to identify with chronic disease (CKD) suspicion condition without...