Browsing by Subject "gene mutation"
Now showing items 21-40 of 86
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Detection of mitochondrial transfer RNA (mt-tRNA) gene mutations in patients with idiopathic pulmonary fibrosis and sarcoidosis
(2018)Mitochondrial reactive oxygen species production may lead to tissue injury associated with two respiratory disorders of unknown origin which are shared by common tissue fibrosis, IPF and sarcoidosis. Sequence analysis of ... -
Detection of unusual mutation within the VP1 region of different re-isolates of poliovirus Sabin vaccine
(2006)In the present study, a genomic analysis of full VP1 sequence region of 15 clinical re-isolates (14 healthy vaccinees and one bone marrow tumor patient) was conducted, aiming to the identification of mutations and to the ... -
Development of a novel PTD-mediated IVT-mRNA delivery platform for potential protein replacement therapy of metabolic/genetic disorders
(2021)The potential clinical applications of the powerful in vitro-transcribed (IVT)-mRNAs, to restore defective protein functions, strongly depend on their successful intracellular delivery and transient translation through the ... -
Diagnostic value of immunohistochemistry for the detection of the BRAF V600E mutation in colorectal carcinoma
(2016)Purpose: V600E is the most common activating BRAF mutation in colorectal carcinomas (CRCs). It is a crucial biomarker for patient selection and response to targeted therapy with BRAF V600E inhibitors. Previous studies using ... -
Effect of allergic bronchopulmonary aspergillosis on FEV 1 in children and adolescents with cystic fibrosis: A European Cystic Fibrosis Society Patient Registry analysis
(2017)Objective To evaluate the effect of allergic bronchopulmonary aspergillosis (ABPA) on FEV 1 percent predicted in children and adolescents with cystic fibrosis. Design Longitudinal data analysis (2008-2010). Setting Patients ... -
Effects of TP53 and PIK3CA mutations in early breast cancer: a matter of co-mutation and tumor-infiltrating lymphocytes
(2016)The purpose of this study is to investigate whether the outcome of breast cancer (BC) patients treated with adjuvant chemotherapy is affected by co-mutated TP53 and PIK3CA according to stromal tumor-infiltrating lymphocytes ... -
Endocrine resistance and epigenetic reprogramming in estrogen receptor positive breast cancer
(2021)Despite the enormous advances during the last three decades, breast cancer continues to be the most frequent type of cancer as well as one of the most frequent cancer-related causes of death in women. Therapeutic management ... -
ERK signaling controls productive HIF-1 binding to chromatin and cancer cell adaptation to hypoxia through HIF-1α interaction with NPM1
(2021)The hypoxia-inducible factor HIF-1 is essential for oxygen homeostasis. Despite its well-understood oxygen-dependent expression, regulation of its transcriptional activity remains unclear. We show that phosphorylation by ... -
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Evidence for the molecular heterogeneity of sickle cell anemia chromosomes bearing the βS/benin haplotype
(2005)There are at least four distinct African and one Asian chromosomal backgrounds (haplotypes) on which the sickle cell mutation has arisen. Additionally, previous data suggest that the βS/Bantu haplotype is heterogeneous at ... -
Fabry disease due to D313Y and novel GLA mutations
(2017)Objectives Our aim is to report four novel α-gal A gene (GLA) mutations resulting in Fabry disease (FD) and provide evidence of pathogenicity of the D313Y mutation regarding which contradictory data have been presented in ... -
A familial concurrence of schizophrenia and Gaucher's disease
(2007)Background: Gaucher's disease (GD) is the most frequently encountered lysosomal storage disease. Here, we describe and discuss the observed concurrence of schizophrenia and Gaucher's disease in two siblings. Methods: ... -
Familial partial lipodystrophy (FPLD): Recent insights
(2020)Lipodystrophies are a heterogeneous group of congenital or acquired disorders, characterized by partial or generalized loss of adipose tissue. Familial partial lipodystrophy (FPLD) presents with genetic and phenotypic ... -
Finding and analyzing plant metabolic gene clusters
(2012)Plants produce an array of diverse secondary metabolites with important ecological functions, providing protection against pests, diseases, and abiotic stresses. Secondary metabolites are also a rich source of bioactive ... -
FIP1L1-PDGFRA molecular analysis in the differential diagnosis of eosinophilia
(2009)Background: Primary eosinophlia associated with the FIP1L1-PDGFRA rearrangement represents a subset of chronic eosinophilic leukaemia (CEL) and affected patients are very sensitive to imatinib treatment. This study was ... -
FV vectors as alternative gene vehicles for gene transfer in HSCs
(2020)Hematopoietic Stem Cells (HSCs) are a unique population of cells, capable of reconstituting the blood system of an organism through orchestrated self-renewal and differentiation. They play a pivotal role in stem cell ... -
Genetic background of osteonecrosis: Associated with thrombophilic mutations?
(2004)Intravascular coagulation is considered a major pathogenetic mechanism for nontraumatic osteonecrosis. The aim of our study was to evaluate the association of thrombophilic factor V G1691A mutation (factor V Leiden) and ... -
Genetic polymorphisms in amyotrophic lateral sclerosis: Evidence for implication in detoxification pathways of environmental toxicants
(2018)Amyotrophic lateral sclerosis (ALS) is a severe neurodegenerative disease of the central nervous system, characterized by progressive loss of motor neurons, and occurring in both sporadic and familial form. The origin of ... -
Genetic variability of the HPV16 early genes and LCR. Present and future perspectives
(2021)Human papillomavirus 16 (HPV16) infection is the aetiologic factor for the development of cervical dysplasia and is regarded as highly carcinogen, because it is implicated in more than 50% of cervical cancer cases, worldwide. ... -
Genetics of Hereditary Angioedema Revisited
(2016)Contemporary genetic research has provided evidences that angioedema represents a diverse family of disorders related to kinin metabolism, with a much greater genetic complexity than was initially considered. Convincing ...