Search results for "Cystic"
showing 10 items of 461 documents
COMBINING TRANSLATION READTHROUGH INDUCING DRUGS AND NONSENSE MEDIATED DECAY PATWHAY INHIBITION TO THE CFTR RESCUE IN CYSTIC FIBROSIS CELL MODEL SYST…
2021
Nonsense mutations affect 10% of patients with cystic fibrosis and produce a premature termination codon in CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) mRNA causing early termination of translation and leading to lack of CFTR function. A potential therapy for nonsense mutations provides the use of small molecules able to overcome the premature stop codon (PTC) by a readthrough mechanism that lead to synthesis a complete CFTR protein. Despite the good results obtained from this approach, TRIDs efficiency is considerably reduced by the poor amount of target transcript, that is the mRNA containing the PTC. The readthrough, indeed, does not occur on the totality of target transcr…
X CONVENTION OF INVESTIGATORS IN CYSTIC FIBROSIS.
2012
Background Cystic fibrosis (CF) is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR). Approximately 10% (worldwide) of patients have in-frame nonsense mutations (UAA, UAG or UGA class I mutations) in the CF trans-membrane regulator (CFTR) gene that result in premature stop codons (PTCs) in the messenger RNA (mRNA) generating truncated CFTR protein responsible for a severe CF phenotype. Pharmacological approaches have been proposed to directly overcome PTCs. Ataluren (PTC124) a small molecule that mimics the activity of aminoglycosides has been suggested to allow PTCs readthrough and to partially restore the protein function. However, des…
The innovative role of the readthrough inducing drugs in the translation rescue of mRNAs characterized by premature stop codon (PTCs).
PTC124 DERIVATIVES AS A NOVEL APPROACH TO IMPROVE THE READTHROUGH OF PREMATURE AMBER AND OCHRE STOP CODONS
2013
Nucleotide changes within an exon may alter the trinucleotide normally encoding a particular amino acid, such that a new “stop” signal is transcribed into the mRNA open reading frame. This causes the ribosome to prematurely terminate its reading of the mRNA, leading to the lack of production of a normal full-length protein. Such premature termination codon (PTC) mutations occur in an estimated 10% to 15% of many genetically based disorders (1). Pathological nonsense mutations resulting in TAG (40.4%), TGA (38.5%), and TAA (21.1%) occur in different proportions to naturally occurring stop codons (2). Several genetic disorders are characterized by opal (TGA; Cystic fibrosis, Duchenne/Becker m…
EVALUATION OF POLYAMINOACIDIC POLYMERS AS GENE TRANFER AGENTS TO RESPIRATORY EPITHELIAL CELLS AND OF THEIR BIOPHYSICAL PROPERTIES IN THE PRESENCE OF …
2010
BIOCOMPATIBLE POLYAMINOACID-BASED POLYCATIONS AS NON-VIRAL VECTORS FOR GENE THERAPY OF CYSTIC FIBROSIS.
2009
Benign liver lesions 2022: Guideline for clinical practice of Associazione Italiana Studio del Fegato (AISF), Società Italiana di Radiologia Medica e…
2022
Benign liver lesions are increasingly diagnosed in daily clinical practice due to the growing use of imaging techniques for the study of the abdomen in patients who have non-specific symptoms and do not have an increased risk of hepatic malignancy. They include simple or parasitic cysts and solid benign tumors which differ widely in terms of prevalence, clinical relevance, symptoms and natural history and often lead to significant clinical problems relating to diagnosis and clinical management. Following the need to have updated guidelines on the management of benign focal liver lesions, the Scientific Societies mainly involved in their management have promoted the drafting of a new dedicat…
Consensus On Women'S Health Aspects Of Polycystic Ovary Syndrome (Pcos)
2012
Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in females with a high prevalence. The etiology of this heterogeneous condition remains obscure and its phenotype expression varies. Two, widely cited, previous ESHRE/ASRM-sponsored PCOS consensus workshops focused on diagnosis (published in 2004) and infertility management (published in 2008). The present third PCOS consensus paper summarizes current knowledge and identifies knowledge gaps regarding various women's health aspects of PCOS. Relevant topics addressed-all dealt with in a systematic fashion-include adolescence, hirsutism and acne, contraception, menstrual cycle abnormalities, quality of life, ethnicity, preg…
Struma ovarii. Case report and revision of the literature
2011
Struma ovarii is a rare form of ovarian neoplasm, entirely or predominantly composed of thyroid tissue. This tumour generally has a benign biological behavior, although some cases of malignant transformation have been reported (5-10%). The tumour usually presents as an asymptomatic mature mass that may measure as much as 10 cm in diameter. The presence of ascites is possible (15-20%), and in a few cases the association of ascites and hydrothorax has been recorded (Pseudo-Meigs Syndrome); a close relationship between ascites and high levels of Ca-125, that may wrongly induce to a diagnosis of ovarian carcinoma is present. Other possible clinical consequences are compressive symptoms on adjac…