Annalaura Torella
A5088842161- Genomics and Rare Diseases
- Muscle Physiology and Disorders
- Cardiomyopathy and Myosin Studies
- Genetics and Neurodevelopmental Disorders
- Neurogenetic and Muscular Disorders Research
- Genomic variations and chromosomal abnormalities
- RNA modifications and cancer
- Genetic Neurodegenerative Diseases
- RNA Research and Splicing
- Congenital heart defects research
- Renal and related cancers
- Retinal Development and Disorders
- Cancer Genomics and Diagnostics
- Genetic Syndromes and Imprinting
- Mitochondrial Function and Pathology
- Epigenetics and DNA Methylation
- Cellular transport and secretion
- Genetic and Kidney Cyst Diseases
- Nuclear Structure and Function
- Chromatin Remodeling and Cancer
- CRISPR and Genetic Engineering
- RNA regulation and disease
- Fetal and Pediatric Neurological Disorders
- Glycogen Storage Diseases and Myoclonus
- Cardiovascular Effects of Exercise
University of Campania "Luigi Vanvitelli"
2014-2025
Telethon Institute Of Genetics And Medicine
2016-2025
Denver School of Nursing
2022
Triangle
2022
Indianapolis Zoo
2022
Gainesville Obstetrics & Gynecology
2022
Committee on Publication Ethics
2022
National Center on Birth Defects and Developmental Disabilities
2022
University of Helsinki
2021
King's College London
2021
Abstract In December 2019, an initial cluster of interstitial bilateral pneumonia emerged in Wuhan, China. A human-to-human transmission was assumed and a previously unrecognized entity, termed coronavirus disease-19 (COVID-19) due to novel (SARS-CoV-2) described. The infection has rapidly spread out all over the world Italy been first European country experiencing endemic wave with unexpected clinical severity comparison Asian countries. It shown that SARS-CoV-2 utilizes angiotensin...
The main cause of morbidity and mortality in diabetes mellitus (DM) is cardiovascular complications. Diabetic cardiomyopathy (DCM) remains incompletely understood. Animal models have been crucial exploring DCM pathophysiology while identifying potential therapeutic targets. Streptozotocin (STZ) has widely used to produce experimental both type 1 2 DM (T1DM T2DM). Here, we compared these two for their effects on cardiac structure, function transcriptome. Different doses STZ diet chows were...
Multipotent adult resident cardiac stem cells (CSCs) were first identified by the expression of c-kit, cell factor receptor. However, in myocardium c-kit alone cannot distinguish CSCs from other c-kit-expressing (c-kitpos) cells. The heart indeed contains a heterogeneous mixture c-kitpos cells, mainly composed mast and endothelial/progenitor This heterogeneity has generated confusion controversy about existence role heart. Here, to unravel CSC identity within population, separated through...
To apply next-generation sequencing (NGS) for the investigation of genetic basis undiagnosed muscular dystrophies and myopathies in a very large cohort patients.We applied an NGS-based platform named MotorPlex to our diagnostic workflow test muscle disease genes with high sensitivity specificity small DNA variants. We analyzed 504 patients mostly referred as being affected by limb-girdle dystrophy or congenital myopathy.MotorPlex provided complete molecular diagnosis 218 cases (43.3%). A...
Abstract Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield patients with rare diseases. However, cost and efforts required for reanalysis prevent its routine implementation in research clinical environments. The Solve-RD project aims to reveal molecular causes underlying undiagnosed One goals is implement innovative approaches reanalyse exomes genomes from thousands well-studied cases. raw genomic submitted through RD-Connect Genome-Phenome Analysis...
Inherited retinal diseases (IRDs) are the leading cause of vision loss in working-age population. We performed a retrospective epidemiological study to determine genetic basis IRDs large Italian cohort (n = 2790) followed at single referral center. provided, mainly by next generation sequencing, potentially conclusive molecular diagnosis for 2036 patients (from 1683 unrelated families). identified total 1319 causative sequence variations 132 genes, including 353 novel variants, and 866...
Abstract Variants in RAC3, encoding a small GTPase RAC3 which is critical for the regulation of actin cytoskeleton and intracellular signal transduction, are associated with rare neurodevelopmental disorder structural brain anomalies facial dysmorphism. We investigated cohort 10 unrelated participants presenting global psychomotor delay, hypotonia, behavioural disturbances, stereotyped movements, dysmorphic features, seizures musculoskeletal abnormalities. MRI revealed complex pattern...
Neural differentiation, synaptic transmission, and action potential propagation depend on membrane sphingolipids, whose metabolism is tightly regulated. Mutations in the ceramide transporter CERT (CERT1), which involved sphingolipid biosynthesis, are associated with intellectual disability, but pathogenic mechanism remains obscure. Here, we characterize 31 individuals de novo missense variants CERT1. Several fall into a previously uncharacterized dimeric helical domain that enables...
Limb-girdle muscular dystrophies (LGMD) are genetically and clinically heterogeneous conditions. We investigated a large family with autosomal dominant transmission pattern, previously classified as LGMD1F mapped to chromosome 7q32. Affected members characterized by muscle weakness affecting earlier the pelvic girdle ileopsoas muscles. sequenced whole exome of four identified shared heterozygous frame-shift variant in Transportin 3 (TNPO3) gene, encoding member importin-β super-family. The...
<h3>Importance</h3> Mutations in the titin gene (<i>TTN</i>) cause a wide spectrum of genetic diseases. The interpretation numerous rare variants identified in<i>TTN</i>is difficult challenge given its large size. <h3>Objective</h3> To identify cohort patients with muscle disorders. <h3>Design, Setting, and Participants</h3> In this case series, 9 titinopathy 4 other possibly disease-causing in<i>TTN</i>were identified. Titin mutations were detected through targeted resequencing performed on...
Mutations in ~100 genes cause muscle diseases with complex and often unexplained genotype/phenotype correlations. Next-generation sequencing studies identify a greater-than-expected number of genetic variations the human genome. This suggests that existing clinical monogenic testing systematically miss very relevant information. We have created core panel all known forms nonsyndromic disorders (MotorPlex). It comprises 93 loci, among which are largest most genes, such as TTN, RYR1, NEB DMD....
Dystrophinopathies are inherited diseases caused by mutations in the dystrophin (DMD) gene for which testing is mandatory genetic diagnosis, reproductive choices and eligibility personalized trials. We genotyped DMD our Italian cohort of 1902 patients (BMD n=740, 39%; n=1162, 61%) within a nationwide study involving 11 diagnostic centers 10-year window (2008-2017). In patients, we found deletions 57%, duplications 11% small 32%. BMD, 78%, 9% 13%. there higher number more frequent than...
Abstract Background This paper describes the clinical practice and performance of cell-free DNA sequencing-based non-invasive prenatal testing (NIPT) as a screening method for fetal trisomy 21, 18, 13 (T21, T18, T13) sex chromosome aneuploidies (SCA) in general Italian pregnancy population. Methods The AMES-accredited laboratory offers NIPT maternal blood test T21, T13 SCA. Samples were sequenced on NextSeq 550 (Illumina) using VeriSeq Solution v1 assay. Results A retrospective analysis was...
Abstract Challenges to the widespread application of gene therapy with adeno-associated viral (AAV) vectors include dominant conditions due gain-of-function mutations which require allele-specific knockout, as well long-term transgene expression from proliferating tissues, is hampered by AAV DNA episomal status. To overcome these challenges, we used CRISPR/Cas9-mediated homology-independent targeted integration (HITI) in retina and liver paradigmatic target tissues. We show that AAV-HITI...
Dystrophinopathies are X-linked recessive muscle disorders caused by mutations in the dystrophin (DMD) gene that include deletions, duplications, and point mutations. Correct diagnosis is important for providing adequate patient care family planning, especially at this time when mutation-specific therapies available. We report a large single-centre study on spectrum of DMD variants observed 750 patients analyzed suspected Duchenne or Becker (BMD) muscular dystrophy, over past 30 years,...
Mandibular prognathism (MP) is a recognizable phenotype associated with dentoskeletal class III malocclusion. MP complex genetic trait, although familial recurrence also suggests the contribution of single inherited variations. To date, causes have been investigated using linkage analysis or association studies in pooled families. Here for first time, next-generation sequencing was used to study family large number MP-affected members and identify MP-related candidate genes. A 6-generation...
ABSTRACT In December 2019, an initial cluster of interstitial bilateral pneumonia emerged in Wuhan, China. A human-to-human transmission was assumed and a previously unrecognized entity, termed coronavirus-disease-19 (COVID-19) due to novel coronavirus (SARS-CoV-2) described. The infection has rapidly spread out all over the world Italy been first European country experiencing endemic wave with unexpected clinical severity comparison Asian countries. It shown that SARS-CoV-2 utilizes...
A nonsense mutation adds a premature stop signal that hinders any further translation of protein-coding gene, usually resulting in null allele. To investigate the possible exceptions, we used DMD gene as an ideal model. First, because dystrophin absence causes Duchenne muscular dystrophy (DMD), while its reduction Becker (BMD). Second, is X-linked and there no second allele can interfere males. Third, databases are accumulating reports on many mutations phenotypic data. Finally, may have...
Abstract WDR44 prevents ciliogenesis initiation by regulating RAB11-dependent vesicle trafficking. Here, we describe male patients with missense and nonsense variants within the WD40 repeats (WDR) of WDR44, an X-linked gene product, who display ciliopathy-related developmental phenotypes that can model in zebrafish. The patient phenotypic spectrum includes delay/intellectual disability, hypotonia, distinct craniofacial features variable presence brain, renal, cardiac musculoskeletal...