Francesco Vetrini
A5035714683- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Virus-based gene therapy research
- RNA modifications and cancer
- Congenital heart defects research
- RNA Research and Splicing
- Retinal Development and Disorders
- RNA regulation and disease
- Neurogenetic and Muscular Disorders Research
- Ubiquitin and proteasome pathways
- melanin and skin pigmentation
- Genetic and Kidney Cyst Diseases
- Cellular transport and secretion
- RNA Interference and Gene Delivery
- Autophagy in Disease and Therapy
- RNA and protein synthesis mechanisms
- Viral Infectious Diseases and Gene Expression in Insects
- Genetic Syndromes and Imprinting
- CRISPR and Genetic Engineering
- Viral gastroenteritis research and epidemiology
- Prenatal Screening and Diagnostics
- Calcium signaling and nucleotide metabolism
- Multiple Myeloma Research and Treatments
- Protist diversity and phylogeny
Indiana University – Purdue University Indianapolis
2019-2025
Indiana University School of Medicine
2019-2025
Indiana University
2022-2025
University School
2023-2025
University of Indianapolis
2022
Baylor Genetics
2016-2021
Baylor College of Medicine
2010-2021
Vanderbilt University Medical Center
2021
Washington University in St. Louis
2021
IRCCS Policlinico San Donato
2019
Starvation activates a transcriptional program controlling autophagosome formation, lysosome fusion, and substrate degradation.
<h3>Importance</h3> While congenital malformations and genetic diseases are a leading cause of early infant death, to our knowledge, the contribution single-gene disorders in this group is undetermined. <h3>Objective</h3> To determine diagnostic yield use clinical exome sequencing critically ill infants. <h3>Design, Setting, Participants</h3> Clinical was performed for 278 unrelated infants within first 100 days life who were admitted Texas Children’s Hospital Houston, Texas, during 5-year...
Abstract Dystonia is a rare-disease trait for which large-scale genomic investigations are still underrepresented. Genetic heterogeneity among patients with unexplained dystonia warrants interrogation of entire genome sequences, but this has not yet been systematically evaluated. To significantly enhance our understanding the genetic contribution to dystonia, we (re)analyzed 2,874 whole-exome sequencing (WES), 564 whole-genome (WGS), as well 80 fibroblast-derived proteomics datasets,...
Research Article4 February 2013Open Access Gene transfer of master autophagy regulator TFEB results in clearance toxic protein and correction hepatic disease alpha-1-anti-trypsin deficiency Nunzia Pastore Telethon Institute Genetics Medicine, Naples, Italy Search for more papers by this author Keith Blomenkamp Department Pediatrics, Saint Louis University School Cardinal Glennon Children's Medical Center, Louis, MO, USA Fabio Annunziata Pasquale Piccolo Pratibha Mithbaokar Rosa Maria Sepe...
Exome sequencing is now being incorporated into clinical care for pediatric and adult populations, but its integration prenatal diagnosis has been more limited. One reason this the paucity of information about utility exome in setting.We retrospectively reviewed indications, results, time to results (turnaround time, TAT), impact 146 consecutive "fetal exomes" performed a diagnostic laboratory between March 2012 November 2017. We define fetal as one on sample obtained from fetus or product...
As much as 90% of an intravenously (i.v.) injected dose adenovirus serotype 5 (Ad5) is absorbed and destroyed by liver Kupffer cells. Viruses that escape these cells can then transduce hepatocytes after binding factor X (FX). Given interactions with FX are thought to occur on the Ad5 hexon protein, we replaced its exposed hypervariable regions (HVR) those from Ad6. When tested in vivo BALB/c mice hamsters, Ad5/6 chimera mediated >10 times higher transduction liver. This effect was not due...
Abstract De novo variants in DDX 3X account for 1–3% of unexplained intellectual disability ( ID ) cases and are amongst the most common causes especially females. Forty‐seven patients (44 females, 3 males) have been described. We identified 31 additional individuals carrying 29 unique variants, including 30 postnatal with complex clinical presentations developmental delay or , one fetus abnormal ultrasound findings. Rare novel phenotypes observed include respiratory problems, congenital...
Exome sequencing (ES) has been successfully applied in clinical detection of single nucleotide variants (SNVs) and small indels. However, identification copy number (CNVs) using ES data remains challenging. The purpose this study is to understand the contribution CNVs neutral runs homozygosity (ROH) molecular diagnosis patients referred for ES.In a cohort 11,020 consecutive patients, an Illumina SNP array analysis interrogating mostly coding SNPs was performed as quality control (QC)...
In vivo gene transfer with adenovirus vectors would significantly benefit from a tight control of the adenovirus-inherent liver tropism. For efficient hepatocyte transduction, need to evade Kupffer cell scavenging while delivery peripheral tissues or tumors could be improved if both by cells and uptake hepatocytes were blocked. Here, we provide evidence that single point mutation in hexon capsomere designed enable defined chemical capsid modifications may permit detargeting targeting evasion...
Recombinant Adenoviral vectors represent one of the best gene transfer platforms due to their ability efficiently transduce a wide range quiescent and proliferating cell types from various tissues species. The activation an adaptive immune response against transduced cells is major drawbacks first generation Adenovirus has been overcome by latest recombinant Adenovirus, Helper-Dependent (HDAd) vectors. HDAds have innovative features including complete absence viral coding sequences mediate...
Helper-dependent adenoviral (HDAd) vectors can mediate long-term, high-level transgene expression from transduced hepatocytes with no chronic toxicity. However, a toxic acute response potentially lethal consequences has hindered their clinical applications. Liver sinusoidal endothelial cells (LSECs) and Kupffer are major barriers to efficient hepatocyte transduction. Understanding the mechanisms of vector uptake by non-parenchymal may allow development strategies aimed at overcoming these...
Neurodevelopmental disorders are genetically and phenotypically heterogeneous encompassing developmental delay (DD), intellectual disability (ID), autism spectrum (ASDs), structural brain abnormalities, neurological manifestations with variants in a large number of genes (hundreds) associated. To date, few de novo mutations potentially disrupting TCF20 function patients ID, ASD, hypotonia have been reported. encodes transcriptional co-regulator structurally related to RAI1, the...
DDX39B is a conserved member of the DEAD-box family ATP-dependent RNA helicases, critical in mRNA metabolism across eukaryotes. also core component TRanscription-EXport (TREX) super protein complex, which recent studies have highlighted important role its subunits neurodevelopmental disorders. Here, we describe six individuals from five families, four harboring de novo missense variants DDX39B, and one with an inherited splicing variant, presenting variable developmental delay, congenital...