Search results for "MUTATION"
showing 10 items of 2830 documents
Isolation and characterization of yeast monomorphic mutants of Candida albicans.
1994
A method was devised for the isolation of yeast monomorphic (LEV) mutants of Candida albicans. By this procedure, about 20 stable yeast-like mutants were isolated after mutagenesis with ethyl methane sulfonate. The growth rate of the mutants in different carbon sources, both fermentable and not, was indistinguishable from that of the parental strain, but they were unable to grow as mycelial forms after application of any of the common effective inducers, i.e., heat shock, pH alterations, proline addition, or use of GlcNAc as the carbon source. Studies performed with one selected strain demonstrated that it had severe alterations in the chemical composition of the cell wall, mainly in the le…
Missense mutations of coagulation factor XII in hereditary angioedema with normal complement C1 inhibitor
2007
BRCA1 and BRCA2 germline mutations in sicilian breast and/or ovarian cancer families and their association with familial profiles
2009
Could growth hormone play a role in Peutz Jeghers syndrome?
2013
Convincing experimental data suggest that the growth hormone (GH)/insulin-like growth factor-1(IGF-1) axis plays an important role in cancer development and behaviour. Epidemiological studies have supported an association with cancer, but not with tumour induction per se, although this is a distinction that is important mechanistically but not clinically [1]. We report the case of a 17-year-old man with delayed growth of pituitary origin, treated with growth hormone, in whom a diagnosis of Peutz-Jeghers syndrome (PJS) was subsequently made, and in whom, during the endoscopic follow-up, the number of polyps reduced dramatically, thus suggesting a role for GH in eliciting this disease.
EPV139/#616 TP53 mutations differentially affect prognosis of endometrial cancer: an in-silico approach
2021
Introduction: Recent Advances in Hereditary Neuromuscular Diseases of Childhood
2006
Treatment of Hereditary Angioedema with the Mutation c.988A>G (p.K330E) in the Plasminogen Gene
2020
Pretreatment T790M mutation detection by ultrasensitive PCR assay as predictor of efficacy in non-small lung cancer (NSCLC) patients treated with 1st…
2019
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations
2021
AbstractPurposeHeterozygous variants in BCL11A underlie an intellectual developmental disorder with persistence of fetal hemoglobin (BCL11A-IDD, a.k.a. Dias-Logan syndrome). We sought to delineate the genotypic and phenotypic spectrum of BCL11A-IDD.MethodsWe performed an in-depth analysis of 42 patients with BCL11A-IDD ascertained through a collaborative network of clinical and research colleagues. We also reviewed 33 additional affected individuals previously reported in the literature or available through public repositories with clinical information.ResultsMolecular and clinical data analysis of 75 patients with BCL11A-IDD identified 60 unique variants (30 frameshift, 7 missense, 6 splic…