Homozygous frameshift mutations in FAT1 cause a syndrome characterized by Colobomatousmicrophthalmia, ptosis, nephropathy and syndactyly.
2019
Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles
2018
The polyphenols resveratrol and epigallocatechin-3-gallate restore the severe impairment of mitochondria in hippocampal progenitor cells from a Down syndrome mouse model.
2016
Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia
2015
Hypoxia-induced gene expression results from selective mRNA partitioning to the endoplasmic reticulum
2015
Hypoxia-induced gene expression results from selective mRNA partitioning to the endoplasmic reticulum
2015
MicroRNAs Establish Robustness and Adaptability of a Critical Gene Network to Regulate Progenitor Fate Decisions during Cortical Neurogenesis
2014
Myosin Vb and BSEP contribute to cholestatic liver didorder in Microvillous Inclusion Disease. Hepatology
2013
Mitochondrial dysfunction as a central actor in intellectual disability-related diseases: an overview of Down syndrome, autism, Fragile X and Rett syndrome
2013
MitomiRs delineating the intracellular localization of microRNAs at mitochondria
2013
Genetic variations creating microRNA target sites in the FXN 3'-UTR affect frataxin expression in Friedreich ataxia
2013
Knockout of insulin-like growth factor-1 receptor impairs distal lung morphogenesis
2012
Mutation in a primate-conserved reveal non-coding RNA as a mediator of infantile encephalopathy
2012
Germline deletion of the miR-17~92 cluster causes skeletal and growth defects in humans
2011
Neonatal ichthyosis and sclerosing cholangitis syndrome: extremely variable liver disease severity from claudin-1 deficiency
2011
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability
2010
Genetic variations in inflammatory mediators influence lung disease progression in cystic fibrosis
2008
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 transmembrane conductance regulator controls lung proteasomal degradation and NF-κB activity in conditions of oxidative stress
2008
Glucocorticoid receptor gene polymorphisms associated with progression of lung disease in young patients with cystic fibrosis
2007
Oxidative stress response results in increased p21WAF1/CIP1 degradation in cystic fibrosis lung epithelial cells
2006
Intracellular colocalization and interaction of insulin-like growth factor binding protein-2 with the cyclin-dependent kinase inhibitor p21CIP1/WAF1 during growth inhibition
2005
Deficiency in type 1 insulin-like growth factor receptor in mice protects against oxygen-induced lung injury
2005
Influence of Interleukin-10 on Aspergillus fumigatus Infection in Patients with Cystic Fibrosis
2005
Glutathione-S-transferase M1, M3, P1 and T1 polymorphisms and severity of lung disease in children with cystic fibrosis
2004
Maturational factors modulate transcription factors C/EBP α, β, δ and PPAR γ in fetal rat lung epithelial cells
2003
Liver disease in pediatric patients with cystic fibrosis is associated with glutathione S-transferase P1 polymorphism
2002
Protective role of retinoic acid from antiproliferative action of TNF-alpha on lung epithelial cells
2002
Restoring effects of vitamin A on surfactant synthesis in nitrofen-induced congenital diaphragmatic hernia in rats
2001
Role of keratinocyte growth factor in the control of surfactant synthesis by fetal lung mesenchyme
2001
Identification of a tissue-specific nuclear receptor coactivator GT198 that interacts with the DNA-binding domain of nuclear receptors
2002
Role of secondary structure in discrimination between constitutive and inducible activators
1999
Bcl-2 protects from lethal hepatic apoptosis induced by an anti-Fas antibody in mice
1996
Differential roles of upstream stimulatory factors 1 and 2 in the transcriptional response of liver genes to glucose
1998
Glucose-dependent liver gene expression in upstream stimulatory factor 2 -/- mice
1997
Immunochemical characterization and transacting properties of upstream stimulatory factor isoforms
1996
Mouse USF1 gene cloning: comparative organization within the c-myc gene family
1996
Structure, sequence and chromosomal location of the gene for USF2 transcription factors in mouse
1995
