A5019725859- Renal Diseases and Glomerulopathies
- Congenital gastrointestinal and neural anomalies
- Digestive system and related health
- Neuroscience of respiration and sleep
- Neonatal Respiratory Health Research
- Inflammasome and immune disorders
- Protein Interaction Studies and Fluorescence Analysis
- Lysosomal Storage Disorders Research
- Biomedical Research and Pathophysiology
- Congenital Anomalies and Fetal Surgery
- Neurofibromatosis and Schwannoma Cases
- Blood properties and coagulation
- Microbial metabolism and enzyme function
- Genetics and Neurodevelopmental Disorders
- Autoimmune Bullous Skin Diseases
- Hereditary Neurological Disorders
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Epigenetics and DNA Methylation
- Tuberous Sclerosis Complex Research
- Blood groups and transfusion
- Cancer-related gene regulation
- Celiac Disease Research and Management
- Cystic Fibrosis Research Advances
- Sleep and Wakefulness Research
- Congenital Diaphragmatic Hernia Studies
Istituto Giannina Gaslini
2014-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2006-2023
University of Genoa
2000-2021
Denver School of Nursing
2021
Triangle
2021
Indianapolis Zoo
2021
Gainesville Obstetrics & Gynecology
2021
Institute of Public Affairs
2021
University of Pisa
2017
Bambino Gesù Children's Hospital
2017
NLRP12 mutations have been described in patients affected with peculiar autoinflammatory symptoms. This study was undertaken to characterize syndromes, particularly a novel missense mutation, p.D294E, affecting protein sequence crucial for ATP binding, which identified Caucasian family familial cold-induced syndrome some members.Fifty were tested mutations. A the p.D294E mutation of members clinically characterized. In vitro analysis effects on NF-κB activity performed HEK 293 cells after...
ABSTRACT. A total of 179 children with sporadic nephrotic syndrome were screened for podocin mutations: 120 steroid resistance, and 59 dependence/frequent relapses. Fourteen steroid-resistant patients presented homozygous mutations that associated early onset proteinuria variable renal lesions, including one case mesangial C3 deposition. Single found in four steroid-dependent; five had the same mutation (P20L). Among these, two steroid/cyclosporin dependence, responded to cyclosporin. The...
ABSTRACT. Podocin mutations (NPHS2 gene) are responsible for the autosomal recessive form of steroid-resistant nephrotic syndrome. As a result screening these gene alterations in cohort Italian patients with nonfamilial syndrome and histologic focal segmental glomerulosclerosis (FSGS), nine NPHS2 homozygous or composite heterozygous were found. In addition to previously described defects, two novel at exon 4 identified (frameshift, L169P); four single nucleotide polymorphisms (SNPs) one...
Abstract Objective To explore tumor necrosis factor (TNF)–induced apoptosis in neutrophils from patients with TNF receptor–associated periodic syndrome (TRAPS) and to correlate the results different kinds of TNFRSF1A mutations. Methods Two hundred sixty‐five clinically suspected inherited autoinflammatory were screened for mutations gene. Neutrophils isolated heparinized blood by dextran sedimentation incubated without cycloheximide (CHX) TNFα. Cell was assessed human annexin V binding,...
Lysyl oxidase is an extracellular enzyme that controls the maturation of collagen and elastin. III often show similar expression patterns in fibrotic tissues. Therefore, we investigated influence lysyl overexpression on promoter activity human COL3A1 gene. Our results showed when COS-7 cells overexpressed mature form oxidase, was increased up to average 12 times tested by luciferase reporter assay. The effect specific, because other promoters were not affected. Moreover, abolished...
Congenital central hypoventilation syndrome (CCHS) is a rare neurocristopathy characterized by absence of adequate autonomic control respiration with decreased sensitivity to hypoxia and hypercapnia. Frameshift mutations polyalanine triplet expansions in the coding region PHOX2B have been identified vast majority CCHS patients correlation between length expanded severity has reported. In this work, we undertaken vitro analyses aimed at identifying pathogenetic mechanisms which underlie...
Neurofibromatosis type 1 (NF1) is a proteiform genetic condition caused by pathogenic variants in NF1 and characterized heterogeneous phenotypic presentation. Relevant genotype–phenotype correlations have recently emerged, but only few pertinent studies are available. We retrospectively reviewed clinical, instrumental, data from cohort of 583 individuals meeting at least diagnostic National Institutes Health (NIH) criterion for NF1. Of these, 365 subjects fulfilled ≥2 NIH criteria, including...
ABSTRACT Objectives Chiari malformation type 1 (CMI) is defined by the herniation of cerebellar tonsils 5 mm or more, with possible neurological consequences, including compression neural tissue and/or anomalies in cerebral spinal fluid circulation. The etiology CMI not fully elucidated, both genetic and environmental factors being involved. Several genes pathways involved bone development are pointed out like WNT, FGF, BMP signaling pathways. More recently, crucial role played chromatin...
Heterozygous polyalanine repeat expansions of PHOX2B have been associated with Congenital Central Hypoventilation Syndrome, a rare neurocristopathy characterized by absence adequate control respiration during sleep. Here we report mutational screening in 63 CCHS patients, 58 whom presenting poly-A or frameshift, missense and nonsense mutations. To assess somatic germline occurrence length variations, the relative amounts mutant wild type alleles quantified 20 selected patients an expansion,...
To evaluate the rate of somatic NLRP3 mosaicism in an Italian cohort mutation-negative patients with cryopyrin-associated periodic syndrome (CAPS).The study enrolled 14 a clinical phenotype consistent CAPS whom Sanger sequencing gene yielded negative results. Patients' DNA were subjected to amplicon-based deep sequencing.Low-level has been detected 4 patients, 3 affected chronic infantile neurological cutaneous and articular 1 Muckle-Wells syndrome. Identified nucleotide substitutions encode...
Collagen cross-linking induced by lysyl oxidase has been implicated in liver and lung fibrosis. To define the role of this process kidney fibrosis, we investigated renal expression content collagen cross-links at various stages chronic Adriamycin nephropathy Sprague-Dawley rats. Lysyl was determined RT-PCR; pyridinium residues, indicating cross-links, were evaluated HPLC. These parameters followed a synergic albeit asynchronous outcome: (a) mRNA levels total kidney, glomeruli medulla from...
Previous evidence suggested an anti‐oncogenic role for lysyl oxidase, mainly in ras‐transformed cells. Here we prove that recombinant oxidase is actually able to antagonize p21‐Ha‐Ras‐induced Xenopus laevis oocyte maturation. Lysyl was also effective on progesterone‐dependent maturation, indicating a block lying downstream of Ras. Maturation induced by activated ‘maturation promoting factor’, normally triggered progesterone, inhibited oxidase. Finally, did not abolish p42 Erk2...
The TLX2 (HOX11L1, Ncx, Enx) and PHOX2B genes encode transcription factors crucial in the development of neural-crest-derived cells, leading to ANS (autonomic nervous system) specific neuronal lineages. Moreover, they share a similar expression pattern are both involved downstream steps BMP (bone morphogenetic protein) signalling. In an attempt reconstruct gene network sustaining correct ANS, we have undertaken vitro experimental strategy identify direct upstream regulators gene. After...
Cystic fibrosis (CF) is caused by mutations in the cystic transmembrane conductance regulator (CFTR) Cl<sup>-</sup> channel. The G551D and G1349D, which affect nucleotide-binding domains (NBDs) of CFTR protein, reduce channel activity. This defect can be corrected pharmacologically small molecules called potentiators. CF residing intracellular loops (ICLs), connecting segments CFTR, may also We have investigated extent loss function ICL sensitivity to pharmacological stimulation. found that...