Search results for "Variant"

Identification and molecular characterization of a novel mutation in MSH2 gene in a lynch syndrome family

2017

Background and aim of the work: The Lynch Syndrome (LS) is associated with germline mutations in one of the MisMatch Repair (MMR) genes, including MLH1, MSH2, MSH6, PMS2, MLH3 and MSH3. The molecular characterization of mutations in these MMR genes facilitates the pre-symptomatic diagnosis of subjects at risk to develop a colon cancer or a cancer LS-related. Methods: DHPLC and direct sequencing were performed for the mutation detection analysis. Results: In this study, we identified a novel frame shift mutation, the named is c.170delT in MSH2 gene that determined a premature stop codon and consequently, the formation of a truncated protein (p. Val56Glyfs*7). This is a novel mutation, as it …

Varianti anatomiche dell’albero coronarico visualizzate mediante angiografia coronarica con TC a 64 strati

2006

Copy number variations in the etiology of autism spectrum disorders

2013

Autism Spectrum Disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders, characterized by qualitative impairment in social interaction and communication and restricted, repetitive and stereotyped patterns of behavior, interests and activities. They have a multifactorial etiology, but today different studies are showing the central role of genetics. Different genetic alterations were detected: chromosomal abnormalities, mutations, trinucleotide repeats and copy number variations (CNVs). Several studies identified many CNVs associated with ASDs and possible candidate genes, whose loss or gain could have a key role in the etiopathogenesis of these disorders. In particular, t…

Sindrome di di Crigler-Najjar tipo 2: due nuove mutazioni missense nel gene UGT1A1.

2009

La sindrome di Crigler-Najjar (CNS) è una malattia molto rara (prevalenza 1/1.000.000 nati) a trasmissione autosomica recessiva, caratterizzata da un incremento cronico e grave di bilirubina sierica indiretta (non coniugata), dovuta alla parziale (tipo 2) o completa (tipo 1) assenza funzionale dell’enzima epatico glucoronosil transferasi UGT1. La malattia si manifesta in età neonatale con un ittero precoce e intenso, dovuto alla presenza di bilirubina non coniugata e l'esame fisico è nella norma; in epoca di sviluppo gli effetti clinici della CNS tipo 1 sono letali in quanto l’eccesso di bilirubina porta inevitabilmente ad una encefalopatia essendo tale pigmento fortemente liposolubile. Le …

Type and counter-type from specific chromosomal regions

2013

Several studies have shown the importance of segmental deletions/duplications in the field of chromosome pathologies. Non allelic homologous recombination, NAHR, between chromosomes or sister chromatids, mediated by segmental duplications, is the foundation of frequent mechanisms for structural chromosome mutations such as micro-deletions, micro-duplications, translocations, inversions, and marker chromosomes. We analyzed three distinct genomic regions (22q11.2, 17p11.2, 16p11.2) and we discussed how the same chromosome region can be affected by deletion or by reciprocal duplication, respectively responsible for a syndrome or for a reciprocal counter-syndrome, with different phenotypic mani…

Valutazione dei genotipi G6PD nella popolazione Siciliana e identificazione di una nuova variante: “G6PD*Palermo R257M”.

2008

La deficienza enzimatica di G6PDH è uno dei più comuni disordini nella popolazione siciliana in quanto più di 400 milioni di persone ne sono affette. Al fine di valutare la reale prevalenza dei casi nel nostro territorio presentiamo i dati di uno studio di genotipizzazione del locus G6PD (Xq28). 349 soggetti Siciliani di sesso maschile affetti da deficienza di G6PDH sono stati tipizzati secondo varie metodiche. Gli approcci di laboratorio sono: RFLPs (NlaIII, BclI, PstI e BspHI), PCR-Reverse Dot Blot (RDB) ed il sequenziamento diretto del gene. Le prime metodiche sono utili per definire le mutazioni già descritte e comunque le più comuni; il sequenziamento diretto è determinante per la valu…

Hochschild Cohomology Theories in White Noise Analysis

2008

We show that the continuous Hochschild cohomology and the differential Hochschild cohomology of the Hida test algebra endowed with the normalized Wick product are the same.

Polynomimatriisit

2014

Tämän tutkielman sisältö voidaan karkeasti jakaa kahteen osaan. Ensimmäisessä on tarkoituksena tarkastella polynomimatriiseja ja erityisesti osoittaa toimiviksi kaksi niiden muokkaamiseen soveltuvaa algoritmia. Algoritmit toimivat osittain samalla idealla kuin lineaarialgebran perusteista tuttu Gaussin ja Jordanin menetelmä. Polynomit tuovat menetelmiin kuitenkin uutta sisältöä erityisesti jaollisuusominaisuuksiensa vuoksi. Tarkasteltavat matriisit ovat aina neliömatriiseja, ja polynomien kerroinkunnan karakteristika oletetaan nollaksi. Ensimmäinen algoritmi osoittaa, että Gaussin menetelmän polynomimatriiseille yleistetyillä rivioperaatioilla voidaan aina muokata polynomimatriisi yläkolmio…

Views selection for SIFT based object modeling and recognition

2016

In this paper we focus on automatically learning object models in the framework of keypoint based object recognition. The proposed method uses a collection of views of the objects to build the model. For each object the collection is composed of N×M views obtained rotating the object around its vertical and horizontal axis. As keypoint based object recognition using a complete set of views is computationally expensive, we focused on the definition of a selection method that creates, for each object, a subset of the initial views that visually summarize the characteristics of the object and should be suited for recognition. We select the views by determining maxima and minima of a function, …

Invariant natural killer T cells treated with rapamycin or transforming growth factor-β acquire a regulatory function and suppress T effector lymphoc…

2015

Invariant natural killer T cells treated with rapamycin or transforming growth factor-β acquire a regulatory function and suppress T effector lymphocytes