53 research outputs found
Le parcours éducatif de Guillaume Fay de Lavallaz à travers sa correspondance avec son père: Entre enseignement jésuite et problèmes quotidiens d'un jeune patricien valaisan au XVIIe siècle
Sindrome congenita di glicosilazione di tipo CDG-IG:analisi molecolare del gene ALG12 in una famiglia sarda
Sindrome di Glicosilazione di tipo CDG-Ig: analisi molecolare del gene ALG12 in una famiglia sarda
Short Communication Novel truncating mutations in the CFTR gene causing a severe form of cystic fibrosis in Italian patients
Cystic fibrosis (CF) is a common recessive genetic disease caused by mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. More than 1800 different mutations have been described to date. Here, we report 3 novel mutations in CFTR in 3 Italian CF patients. To detect and identify 36 frequent mutations in Caucasians, we used the INNO-LiPA CFTR19 and INNO-LiPA CFTR17+Tn Update kits (Innogenetics; Ghent, Belgium). Our first analysis did not reveal both of the responsible mutations; thus, direct sequencing of the CFTR gene coding region was performed. The 3 patients were compound heterozygous. In one allele, the F508del (c.1521_1523delCTT, p.PHE508del) mutation in exon 11 was observed in each case. For the second allele, in patient No.1, direct sequencing revealed an 11-base pair deletion (GAGGCGATACT) in exon 14 (c.2236_2246del; pGlu746Alafs*29). In patient No. 2, direct sequencing revealed a nonsense mutation at nucleotide 3892 (c.3892G>T) in exon 24. In patient No. 3, direct sequencing revealed a deletion of cytosine in exon 27 (c.4296delC; p.Asn1432Lysfs*16). These 3 novel mutations indicate the production of a truncated protein, which consequently results in a non-functional polypeptide
Aspetti immunologici nei tossicodipendenti anti-HIV sieronegativi. Correlazione con la durata di assunzione dell’eroina e con altre infezioni virali
Role of interleukin-2 (IL-2) in cancer-related immune deficiency: in vitro response to IL-2, production of IL-2, and IL-2 receptor expression in patients with advanced cancer
Interleukin 2 (IL 2) and cancer. In vitro response to exogenous R and non-R IL 2 by PHA-activated and non-PHA-activated PBMC from patients with cancer
Prevalenza e significato clinico dell’HBV-DNA nel siero dei portatori cronici di HBsAg/anti-HBe positivi in Sardegna
Interleukin 2 (IL 2) relationships with the cancer-related immunodeficiency: in vitro response to exogenous IL 2 by PHA-activated and non PHA-activated peripheral blood mononuclear cells from cancer patients
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