@article {7690,
	title = {Short Communication FYB polymorphisms in Brazilian patients with type I diabetes mellitus and autoimmune polyglandular syndrome type III.},
	journal = {Genet Mol Res},
	volume = {14},
	year = {2015},
	month = {2015},
	pages = {29-33},
	abstract = {<p>The aim of this study was to perform an association study between seven Fyn-binding protein gene (FYB)-tag single nucleotide polymorphisms (SNPs) and type I diabetes mellitus (T1DM), as well as with disease age of onset. We also assessed the role of FYB SNPs in the insurgence of autoimmune polyglandular syndrome type III (APSIII), characterized by the simultaneous presence of autoimmune thyroid disease and celiac disease, in patients with T1DM from a Northeastern Brazilian population. One hundred and seventy-seven patients with T1DM and 190 healthy individuals were genotyped for seven tag SNPs, covering most of the FYB locus, using real-time polymerase chain reaction amplification. There was no significant difference in the distribution of allele and genotype frequencies among patients and healthy individuals. Moreover, none of the tag SNPs were associated either to T1DM age of onset or to the insurgence of APSIII. However, since the FYB protein is a key component in T cell response, its gene variants might play a role in protein function, which might be testable in a population with different genetic backgrounds or by using functional assays.</p>},
	issn = {1676-5680},
	doi = {10.4238/2015.January.15.4},
	author = {Addobbati, C J C and de Azev{\^e}do Silva, J and Tavares, N A C and Araujo, J and Guimar{\~a}es, R L and Brand{\~a}o, L and Crovella, S and Sandrin-Garcia, P}
}
@article {3625,
	title = {Short communication: novel truncating mutations in the CFTR gene causing a severe form of cystic fibrosis in Italian patients.},
	journal = {Genet Mol Res},
	volume = {13},
	year = {2014},
	month = {2014},
	pages = {9636-41},
	abstract = {<p>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.</p>},
	keywords = {Alleles, Base Sequence, Cystic Fibrosis, Cystic Fibrosis Transmembrane Conductance Regulator, DNA Mutational Analysis, Exons, Female, Heterozygote, Humans, Infant, Infant, Newborn, Italy, Molecular Sequence Data, Mutation, Open Reading Frames, Severity of Illness Index},
	issn = {1676-5680},
	doi = {10.4238/2014.November.14.8},
	author = {Lenarduzzi, S and Morgutti, M and Crovella, S and Coiana, A and Rosatelli, M C}
}
