Search results for "MOZ"
showing 10 items of 437 documents
Homozygous familial hypobetalipoproteinemia: two novel mutations in the splicing sites of apolipoprotein B gene and review of the literature.
2015
Objective: Familial hypobetalipoproteinemia (FHBL) is autosomal codominant disorder of lipoprotein metabolism characterized by low plasma levels of total cholesterol (TC), low-density lipoproteincholesterol (LDL-C) and apolipoprotein B (apoB) below the 5 th percentile of the distribution in the population. Patients with the clinical diagnosis of homozygous FHBL (Ho-FHBL) are extremely rare and few patients have been characterized at the molecular level. Here we report the medical history and the molecular characterization of one paediatric patient with clinical features of Ho-FHBL. Methods: A one month old infant with failure to thrive, severe hypocholesterolemia and acanthocytosis was clin…
A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity.
2013
Inherited retinal dystrophies are a major cause of childhood blindness. Here, we describe the identification of a homozygous frameshift mutation (c.1194_1195delAG, p.Arg398Serfs*9) in TUB in a child from a consanguineous UK Caucasian family investigated using autozygosity mapping and whole-exome sequencing. The proband presented with obesity, night blindness, decreased visual acuity, and electrophysiological features of a rod cone dystrophy. The mutation was also found in two of the proband's siblings with retinal dystrophy and resulted in mislocalization of the truncated protein. In contrast to known forms of retinal dystrophy, including those caused by mutations in the tubby-like protein …
Progettazione emozionale statistica
2010
In questo lavoro si propone l’utilizzo di particolari metodologie statistiche nell’ambito del Kansei Engineering, con un esempio applicativo a motoveicoli di media cilindrata appartenenti al segmento delle turistiche di medio raggio. Seguendo la procedura proposta, il “prodotto moto” è stato analizzato dal punto di vista delle emozioni che esso suscita nel potenziale acquirente, all’interno del cosiddetto spazio semantico. Al contempo nello spazio delle proprietà, le specifiche di mercato sono state selezionate e raggruppate attraverso l’utilizzo di un software che stima l’importanza degli attributi o caratteristiche di prodotto. Successivamente sono state condotte delle interviste che mira…
Brca2/Xrcc2 dependent HR, but not NHEJ, is required for protection against O6-methylguanine triggered apoptosis, DSBs and chromosomal aberrations by …
2008
Abstract O 6 -methylguanine (O 6 MeG) is a highly critical DNA adduct induced by methylating carcinogens and anticancer drugs such as temozolomide, streptozotocine, procarbazine and dacarbazine. Induction of cell death by O 6 MeG lesions requires mismatch repair (MMR) and cell proliferation and is thought to be dependent on the formation of DNA double-strand breaks (DSBs) or, according to an alternative hypothesis, direct signaling by the MMR complex. Given a role for DSBs in this process, either homologous recombination (HR) or non-homologous end joining (NHEJ) or both might protect against O 6 MeG. Here, we compared the response of cells mutated in HR and NHEJ proteins to temozolomide and…
Promozione della democrazia dal basso? L’UE in Medio Oriente e Nord Africa
2014
La Primavera Araba ha sollecitato le istituzioni europee ad un ripensamento delle politiche dell’Unione Europea (UE) verso i Paesi dell’area medio-orientale. La Commissione europea ha iniziato ad avere un approccio più cauto sulle proprie possibilità di successo nel favorire i cambiamenti di regime politico dei Paesi terzi anche a causa della riduzione delle risorse finanziarie. Nella retorica europea si inserisce una “rinnovata” attenzione nei confronti degli attori della società civile locale come attori privilegiati nel promuovere dal basso la nascita di regimi democratici. Il capitolo verifica l’efficacia delle strategie di promozione della democrazia nell’area del Mediterraneo sviluppa…
Pedagogia Sanitaria
2005
Null alleles of human complement C4. Evidence for pseudogenes at the C4A locus and for gene conversion at the C4B locus
1990
The two genes for the C4A and C4B isotypes of the fourth component of human complement are located in the MHC class III region. Previous studies have demonstrated the unusual expression of C4 genes in the form of aberrant or duplicated haplotypes. Null alleles of C4A or C4B (AQ0 or BQ0) have been defined by the absence of gene products and occur at frequencies of 0.1-0.3. However, only some C4 null alleles are due to gene deletions, the remainder were thought to be nonexpressed genes. We have analyzed the C4 gene structure of 26 individuals lacking either C4A or C4B protein. The DNA of individuals with apparently nonexpressed C4 genes was tested for the presence of C4A- and C4B-specific seq…
Oral temozolomide in heavily pre-treated brain metastases from non-small cell lung cancer: phase II study
2005
Introduction: The primary tumour type most likely to metastasize to the brain is lung cancer. In heavily pre-treated patients, limited therapeutic option is available and the results of availability therapies reported in literature are disappointing. The present phase II study was designed to assess the efficacy and safety of temozolomide (TMZ) as palliative treatment for brain metastases (BrM) in NSCLC patients pre-treated with WBRT and at least one line of chemotherapy for metastatic brain disease. Material and methods: Temozolomide was administered orally at 150 mg/mq/day for five consecutive days for the first cycle, doses were increased to 200 mg/mq/day for 5 days every 28 days for sub…