Homozygous frameshift mutations in FAT1 cause a syndrome characterized by Colobomatous-microphthalmia, ptosis, nephropathy and syndactyly - 2019
A failure in optic fissure fusion during development can lead to blinding malformations of the eye. Here, we report a syndrome characterized by facial dysmorphism, colobomatous microphthalmia, ptosis and syndactyly with or without nephropathy, associated with homozygous frameshift mutations in FAT1.
Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles - 2018
To improve the diagnostic work-up of patients with diverse neurological diseases, we have elaborated specific clinical and CSF neurotransmitter patterns.
Mitochondria as pharmacological targets in Down syndrome - 2018
Mitochondria play a pivotal role in cellular energy-generating processes and are considered master regulators of cell life and death fate. Mitochondrial function integrates signalling networks in several metabolic pathways controlling neurogenesis and neuroplasticity.
DCDC2 mutations cause neonatal sclerosing cholangitis - 2016
Neonatal sclerosing cholangitis (NSC) is a rare biliary disease leading to liver transplantation in childhood. Patients with NSC and ichtyosis have already been identified with a CLDN1 mutation, encoding a tight-junction protein. However, for the majority of patients, the molecular basis of NSC remains unknown.
The polyphenols resveratrol and epigallocatechin-3-gallate restore the severe impairment of mitochondria in hippocampal progenitor cells from a Down syndrome mouse model - 2016
Mitochondrial dysfunctions critically impair nervous system development and are potentially involved in the pathogenesis of various neurodevelopmental disorders, including Down syndrome (DS), the most common genetic cause of intellectual disability.
Biliary atresia: Clinical advances and perspectives - 2016
Biliary atresia (BA) is a rare and severe inflammatory and obliterative cholangiopathy that affects both extra- and intrahepatic bile ducts.
Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia - 2015
Cartilage-hair hypoplasia (CHH) is an autosomal recessive disorder which is characterized by bone metaphysis anomalies with manifestations that include short stature, defective cellular immunity, and predisposition to several cancers.
Hypoxia-induced gene expression results from selective mRNA partitioning to the endoplasmic reticulum - 2015
F6:IF-FISH analysis of HT1080 cells transfected with Firefly-Luciferase (Luc) reporter plasmids by electroporation as indicated and cultured under normoxic or hypoxic conditions.
MicroRNAs Establish Robustness and Adaptability of a Critical Gene Network to Regulate Progenitor Fate Decisions during Cortical Neurogenesis - 2014
Over the course of cortical neurogenesis, the transition of progenitors from proliferation to differentiation requires a precise regulation of involved gene networks under varying environmental conditions.
Myosin Vb and BSEP contribute to cholestatic liver disorder in Microvillous Inclusion Disease. Hepatology - 2013
Friedreich's ataxia (FRDA) is a severe neurodegenerative disease caused by GAA repeat expansion within the first intron of the frataxin gene.
Mitochondrial dysfunction as a central actor in intellectual disability-related diseases: an overview of Down syndrome, autism, Fragile X and Rett syndrome - 2013
Clinical manifestations typical of mitochondrial diseases are often present in various genetic syndromes associated with intellectual disability, a condition leading to deficit in cognitive functions and adaptive behaviors.
MitomiRs, ChloromiRs and Modelling of the microRNA Inhibition - 2013
MicroRNAs are non-coding parts of nuclear and mitochondrial genomes, preventing the weakest part of the genetic regulatory networks from being expressed and preventing the appearance of a too many attractors in these networks.
MitomiRs delineating the intracellular localization of microRNAs at mitochondria - 2013
Mitochondria play a crucial role in energetic metabolism, signaling pathways, and overall cell viability. Mitochondrial dysfunctions are known to cause a wide range of human diseases that affect tissues especially those with high energetic requirements, such as skeletal muscle, heart, kidney, and central nervous system, while being involved in cancer, aging, and metabolic processes.
Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia - 2013
Friedreich's ataxia (FRDA) is a severe neurodegenerative disease caused by GAA repeat expansion within the first intron of the frataxin gene.
Oxidative stress induces extracellular signal-regulated kinase 1/2 mitogen-activated protein kinase in cystic fibrosis lung epithelial cells: Potential mechanism for excessive IL-8 expression - 2008
Cystic fibrosis (CF) is a lethal disease caused by defective function of the cftr gene product, the CF transmembrane conductance regulator (CFTR) that leads to oxidative damage and excessive inflammatory response in lungs of CF patients.
Cystic fibrosis transmembrane conductance regulator controls lung proteasomal degradation and NF-κB activity in conditions of oxidative stress - 2008
Cystic fibrosis is a lethal inherited disorder caused by mutations in a single gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein, resulting in progressive oxidative lung damage. In this study, we evaluated the role of CFTR in the control of ubiquitin-proteasome activity and nuclear factor (NF)-kappaB/IkappaB-alpha signaling after lung oxidative stress.
Glucocorticoid receptor gene polymorphisms associated with progression of lung disease in young patients with cystic fibrosis - 2007
The variability in the inflammatory burden of the lung in cystic fibrosis (CF) patients together with the variable effect of glucocorticoid treatment led us to hypothesize that glucocorticoid receptor (GR) gene polymorphisms may affect glucocorticoid sensitivity in CF and, consequently, may contribute to variations in the inflammatory response.
Oxidative stress response results in increased p21WAF1/CIP1 degradation in cystic fibrosis lung epithelial cells - 2006
Lung epithelium in cystic fibrosis (CF) patients is characterized by structural damage and altered repair due to oxidative stress.
Intracellular colocalization and interaction of insulin-like growth factor binding protein-2 with the cyclin-dependent kinase inhibitor p21CIP1/WAF1 during growth inhibition - 2005
It is presently unknown whether any member of the IGFBP (insulin-like growth factor binding protein) family directly participates in the control of cell proliferation.
Deficiency in type 1 insulin-like growth factor receptor in mice protects against oxygen-induced lung injury - 2005
Cellular responses to aging and oxidative stress are regulated by type 1 insulin-like growth factor receptor (IGF-1R). Oxidant injury, which is implicated in the pathophysiology of a number of respiratory diseases, acutely upregulates IGF-1R expression in the lung. This led us to suspect that reduction of IGF-1R levels in lung tissue could prevent deleterious effects of oxygen exposure.
Influence of Interleukin-10 on Aspergillus fumigatus Infection in Patients with Cystic Fibrosis - 2005
Recent evidence suggests that genetic polymorphisms that affect the production of interleukin (IL)-10 may play a role in the response to pathogens in cystic fibrosis (CF).
Glutathione-S-transferase M1, M3, P1 and T1 polymorphisms and severity of lung disease in children with cystic fibrosis - 2004
Progression and severity of lung disease differs markedly and early between patients with cystic fibrosis (CF). We investigated the hypothesis that polymorphisms in the detoxifying enzymes glutathione-S-transferase (GST) could influence phenotypic presentation of lung disease in CF.
Maturational factors modulate transcription factors C/EBP α, β, δ and PPAR γ in fetal rat lung epithelial cells - 2003
Previous investigations have evidenced the importance of CCAAT/enhancer-binding proteins (C/EBPs) and peroxisome proliferator-activated receptor (PPAR)gamma for lung development, especially for alveolar type II cells (ATII).
Modifier genes and cystic fibrosis liver disease - 2003
Liver disease in pediatric patients with cystic fibrosis is associated with glutathione S-transferase P1 polymorphism - 2002
Liver disease in patients with cystic fibrosis (CF) is inconstant and has not yet been clearly related to any specific risk factor.
Protective role of retinoic acid from antiproliferative action of TNF-alpha on lung epithelial cells - 2002
Tumor necrosis factor (TNF)-alpha is a key molecule in lung inflammation. We have established the insulin-like growth factor binding protein 2 (IGFBP-2) as a marker associated with the growth arrest of lung alveolar epithelial cells (AEC).
Restoring effects of vitamin A on surfactant synthesis in nitrofen-induced congenital diaphragmatic hernia in rats - 2001
Congenital diaphragmatic hernia (CDH) is a major cause of refractory respiratory failure in the newborn. Besides pulmonary hypoplasia, the pathophysiology of CDH also includes surfactant deficiency.
Role of keratinocyte growth factor in the control of surfactant synthesis by fetal lung mesenchyme - 2001
Fetal lung maturation is regulated by mesenchymal-epithelial cell communication, which plays a major role in the control of surfactant synthesis by alveolar type II cells.
Identification of a tissue-specific nuclear receptor coactivator GT198 that interacts with the DNA-binding domain of nuclear receptors - 2002
Gene activation mediated by nuclear receptors is regulated in a tissue-specific manner and requires interactions between nuclear receptors and their cofactors. Here, we identified and characterized a tissue-specific coactivator, GT198, that interacts with the DNA-binding domains of nuclear receptors.
Role of secondary structure in discrimination between constitutive and inducible activators - 1999
We have examined structural differences between the proto-oncogene c-Myb and the cyclic AMP-responsive factor CREB that underlie their constitutive or signal-dependent activation properties.
Bcl-2 protects from lethal hepatic apoptosis induced by an anti-Fas antibody in mice - 1996
Fas is an apoptosis-signalling cell surface antigen that has been shown to trigger cell death upon specific ligand or antibody binding. Treatment of mice with an anti-Fas antibody causes fulminant hepatic failure due to massive apoptosis.
Differential roles of upstream stimulatory factors 1 and 2 in the transcriptional response of liver genes to glucose - 1998
USF1 and USF2 are ubiquitous transcription factors of the basic helix-loop-helix leucine zipper family. They form homo- and heterodimers and recognize a CACGTG motif termed E box.
Glucose-dependent liver gene expression in upstream stimulatory factor 2 -/- mice - 1997
Upstream stimulatory factors (USF) 1 and 2 belong to the Myc family of transcription factors characterized by a basic/helix loop helix/leucine zipper domain responsible for dimerization and DNA binding.
Immunochemical characterization and transacting properties of upstream stimulatory factor isoforms - 1996
The ubiquitous upstream stimulatory factor (USF) transcription factors encoded by two distinct genes (USF1 and USF2) exist under the form of various dimers able to bind E-boxes.
Mouse USF1 gene cloning: comparative organization within the c-myc gene family - 1996
Upstream stimulatory factors (USF/MLTF) belong to the c-myc family of transcription factors. Through binding to target DNA as dimers, the ubiquitous USF proteins regulate a variety of genes. USF proteins are encoded by two genes, USF1 and USF2.
Structure, sequence and chromosomal location of the gene for USF2 transcription factors in mouse - 1995
The ubiquitously expressed upstream stimulatory factor (USF) involved in the transcription of a wide variety of cellular genes is defined as dimers of c-myc-related proteins, composed of a basic helix-loop-helix/leucine zipper region.
