Search results for "MUTATIONS"

Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia.

2011

Abetalipoproteinemia (ABL), or Bassen-Kornzweig syndrome, is a rare autosomal recessive disorder of lipoprotein metabolism, characterized by fat malabsorption, hypocholesterolemia retinitis pigmentosa, progressive neuropathy and acanthocytosis from early infancy. We describe the clinical and molecular characterization of a 6-month-old infant born of consanguineous, apparently healthy parents from Iran. The patient was hospitalized because of failure to thrive, greasy stool and vomiting. The patient's serum lipid profile, the clinical phenotype and the duodenal histology suggested the clinical diagnosis of ABL. The MTP gene analysis by direct sequencing revealed a novel homozygous mutation (…

FUNCTIONAL EFFECT OF NOVEL AMINO ACID VARIANTS OF APOLIPOPROTEIN B IN FAMILIAL HYPOBETALIPOPROTEINEMIA

2011

Introduction. Familial Hypobetalipoproteinemia (FHBL) is a codominant disorder characterized by reduced plasma levels of LDL-C and apolipoprotein (apo) B. In 50% of cases FHBL is due to mutations in APOB gene resulting in truncated apoBs of various size. Some mutations in APOB gene resulting in non-conservative amino acid substitutions were reported to cause FHBL. In vitro, these mutations induce the retention of the mutant apoB in the endoplasmic reticulum (ER) and impair the secretion of apoB-containing lipoproteins. In two FHBL subjects we identified two novel amino acid variants (Thr26_27delinsAsn and Tyr102Cys) located in the N-terminal 1000 amino acids of mature apoB. Methods. To inve…

Mutacje w mitochondrialnym DNA i reaktywne formy tlenu jako czynniki wpływające na procesy starzenia się komórek i organizmów

2016

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenital

2022

BackgroundArthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to evaluate the added value of whole exome sequencing (WES) compared with targeted exome sequencing (TES) and to identify new genes in 315 unrelated undiagnosed AMC families.MethodsSeveral genomic approaches were used including genetic mapping of disease loci in multiplex or consanguineous families, TES then WES. Sanger sequencing was performed to identify or validate variants.ResultsWe achieved disease gene identification in 52.7% of AMC index pati…

The shape of the water

2016

The Po River is a living organism that breathes: it inhales and swells; it exhales and releases its energy. Between two extreme phases of overflow and shallows, there are endless variations. In Piacenza, at the riverside, hydrometric instruments also took size and shape of a special building in reinforced concrete crowned by conical elements. When the water level rises, it floods the earth gradually; it deletes some marks lapping, and then reveals other things. The water clears and continuously constructs, in a surreal atmosphere of expectation, always in the balance between the catastrophe and the regeneration of a soil that emerges like an archaeological plan. Visible volumes are like the…

Targeting the tumor mutanome for personalized vaccination therapy

2012

Next generation sequencing enables identification of immunogenic tumor mutations targetable by individualized vaccines. In the B16F10 melanoma system as pre-clinical proof-of-concept model, we found a total of 563 non-synonymous expressed somatic mutations. Of the mutations we tested, one third were immunogenic. Immunization conferred in vivo tumor control, qualifying mutated epitopes as source for effective vaccines.

OXADIAZOLE DERIVATIVES FOR THE TREATMENT OF GENETIC DISEASES DUE TO NONSENSE MUTATIONS

2018

Are disclosed oxadiazole derivatives, their use as medicaments and in particular for the treatment of diseases associated with the presence of a nonsense mutation in the gene or a premature stop codon in the mRNA, pharmaceutical formulation comprising said oxadiazole derivatives and prodrug or mixture thereof and the methods for the preparation of said Oxadiazole derivatives.

Mutations in p53 Gene Exons in a Sample from the South of Spain in Oral Cancer

2021

[Background+ Cancer is a genetic disease caused by mutations in DNA and epigenetic alterations that control gene expression. The majority of epidermoid carcinomas develop within the fields of epithelial genetic alterations. The mechanisms underlying tumorigenesis of epidermoid carcinoma are as yet unknown; therefore, precise identification of the risk factors is needed.

Testing for Lynch Syndrome in Endometrial Carcinoma: From Universal to Age-Selective MLH1 Methylation Analysis

2022

Simple Summary International guidelines recommend universal screening of endometrial carcinoma patients for Lynch syndrome, a hereditary cancer predisposition syndrome. Screening is based on mismatch repair protein immunohistochemistry and reflex MLH1 methylation analysis to exclude the likely sporadic cases of MMR deficiency. As sporadic MLH1 protein loss is common in endometrial carcinoma, the ability to target methylation testing would save efforts and costs. We discovered that limiting methylation testing to patients under 65 years would have significantly reduced the testing effort while maintaining a low false negative rate for MLH1-LS detection (0% and 3% in our clinic and registry-b…

Permutations of zero-sumsets in a finite vector space

2020

Abstract In this paper, we consider a finite-dimensional vector space 𝒫 {{\mathcal{P}}} over the Galois field GF ⁡ ( p ) {\operatorname{GF}(p)} , with p being an odd prime, and the family ℬ k x {{\mathcal{B}}_{k}^{x}} of all k-sets of elements of 𝒫 {\mathcal{P}} summing up to a given element x. The main result of the paper is the characterization, for x = 0 {x=0} , of the permutations of 𝒫 {\mathcal{P}} inducing permutations of ℬ k 0 {{\mathcal{B}}_{k}^{0}} as the invertible linear mappings of the vector space 𝒫 {\mathcal{P}} if p does not divide k, and as the invertible affinities of the affine space 𝒫 {\mathcal{P}} if p divides k. The same question is answered also in the case where …