Search Results - "BELPINATI, Francesca"
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An Interleukin 13 Polymorphism Is Associated with Symptom Severity in Adult Subjects with Ever Asthma
Published in PloS one (17-03-2016)“…Different genes are associated with categorical classifications of asthma severity. However, continuous outcomes should be used to catch the heterogeneity of…”
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2
Human Melanoma Cells Differentially Express RNASEL/RNase-L and miR-146a-5p under Sex Hormonal Stimulation
Published in Current issues in molecular biology (01-10-2022)“…Polymorphisms in the ribonuclease L (RNASEL) coding gene and hsa-miR-146a-5p (miR-146a) have been associated with melanoma in a sex-specific manner. We…”
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3
Association of childhood allergic asthma with markers flanking the IL33 gene in Italian families
Published in Journal of allergy and clinical immunology (01-09-2011)Get full text
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4
Sex-dependent interaction of PTGS2 with miR-146a as risk factor for melanoma and the impact of sex hormones in gene expression in skin cells
Published in Melanoma research (01-08-2024)“…Gender disparity in melanoma is a complex issue where sex hormones could be engaged. Differences in genetic variations are important in understanding the…”
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5
Enhancer of zeste 2 polycomb repressive complex 2 subunit polymorphisms in melanoma skin cancer risk
Published in Experimental dermatology (01-10-2020)“…Melanoma is the most deadly skin cancer, and its incidence is growing. EZH2, a member of the Polycomb Group (PcGs) proteins family, plays an important…”
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6
Association of childhood allergic asthma with markers flanking theIL33gene in Italian families
Published in Journal of allergy and clinical immunology (01-09-2011)Get full text
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7
IFRD1 gene polymorphisms are associated with nasal polyposis in cystic fibrosis patients
Published in Rhinology (01-12-2015)“…Background: Nasal polyposis (NP) is an inflammatory disease of the upper nasal airways frequently present in CF patients. Interferon-Related Developmental…”
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8
IFRD1 gene polymorphisms are associated with nasal polyposis in cystic fibrosis patients
Published in Rhinology (01-12-2015)“…Nasal polyposis (NP) is an inflammatory disease of the upper nasal airways frequently present in CF patients. Interferon-Related Developmental Regulator 1…”
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An Interleukin 13 Polymorphism Is Associated with Symptom Severity in Adult Subjects with Ever Asthma: e0151292
Published in PloS one (01-03-2016)“…Different genes are associated with categorical classifications of asthma severity. However, continuous outcomes should be used to catch the heterogeneity of…”
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10
Genetic testing for adult-type hypolactasia in Italian families
Published in Clinical chemistry and laboratory medicine (01-07-2008)“…Adult-type hypolactasia is characterized by the inability to digest lactose during adulthood, due to lactase (LCT) deficiency. It is usually diagnosed by the…”
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Anthropological features of the CFTR gene: Its variability in an African population
Published in Annals of human biology (01-03-2011)“…Background: The CFTR gene (Cystic Fibrosis conductance Transmembrane Regulator) is the gene responsible for Cystic Fibrosis, the most common severe autosomal…”
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12
Haplotype block structure study of the CFTR gene. Most variants are associated with the M470 allele in several European populations
Published in European journal of human genetics : EJHG (01-01-2006)“…An average of about 1700 CFTR (cystic fibrosis transmembrane conductance regulator) alleles from normal individuals from different European populations were…”
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13
Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease
Published in Human genetics (01-12-1998)“…In order to determine the possible role of the cystic fibrosis transmembrane regulator (CFTR) gene in pulmonary diseases not due to cystic fibrosis, a complete…”
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14
A large-scale study of the random variability of a coding sequence: a study on the CFTR gene
Published in European journal of human genetics : EJHG (01-02-2005)“…Coding single nucleotide substitutions (cSNSs) have been studied on hundreds of genes using small samples (n(g) approximately 100-150 genes). In the present…”
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15
Comment on 'CFTR gene mutations in sarcoidosis'
Published in European journal of human genetics : EJHG (01-08-2003)Get full text
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16
A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals
Published in Human genetics (01-02-2000)“…Given q as the global frequency of the alleles causing a disease, any allele with a frequency higher than q minus the cumulative frequency of the previously…”
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Increased frequency of CFTR gene mutations in sarcoidosis: a case/control association study
Published in European journal of human genetics : EJHG (01-09-2000)“…A complete screening of the CFTR gene by DGGE and DNA sequencing was performed in patients with sarcoidosis. In 8/26 cases, missense and splicing CFTR gene…”
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18
Cationic trypsinogen and pancreatic secretory trypsin inhibitor gene mutations in neonatal hypertrypsinaemia
Published in European journal of human genetics : EJHG (01-01-2003)“…Neonatal hypertrypsinaemia with normal sweat chloride detected during CF screening may be related to trypsin activation. We have looked for mutations of the…”
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