1,720,974 research outputs found
Author Correction: Gluten consumption and inflammation affect the development of celiac disease in at-risk children
No full textThe original version of this Article contained an error in the spelling of the authors Renata Auricchio, Ilaria Calabrese, Martina Galatola, Donatella Cielo, Fortunata Carbone, Marianna Mancuso, Giuseppe Matarese, Riccardo Troncone, Salvatore Auricchio & Luigi Greco which were incorrectly given as Auricchio Renata, Calabrese Ilaria, Galatola Martina, Cielo Donatella, Carbone Fortunata, Mancuso Marianna, Matarese Giuseppe, Troncone Riccardo, Auricchio Salvatore & Greco Luigi. The original article has been corrected
Gene Expression Profiling of Celiac Biopsies and Peripheral Blood Monocytes Using Taqman Assays
No full textQuantitative real-time PCR (qPCR) allows for highly sensitive, rapid, and reproducible quantification of mRNA: it has become an established technology for the quantification of gene expression with the 5' nuclease assay using TaqMan(®) probes. It is used for a broad range of applications, including quantification of gene expression, measuring RNA interference, biomarker discovery, pathogen detection, and drug target validation. When studying gene expression with qPCR, scientists usually investigate changes-increases or decreases-in the quantity of particular gene products or a set of gene products. Investigations typically evaluate gene response to biological conditions such as disease states, exposure to pathogens or chemical compounds, organ or tissue location, and cell cycle or differentiation status. Here we describe this technique applied to molecular profiling of candidate genes in celiac biopsies and peripheral blood monocytes. Using data obtained by gene expression experiments, a discriminant equation has been developed that allows the correct classification of Celiac Disease (CD) patients compared to healthy controls, CD patients on a Gluten Free Diet (GFD), and other disease controls
Alteration of the tumor suppressor PTEN induce beta catenin accumulation and attivation of pro-inflammatory and cell survival signals in PTEN hamartoma tumor syndrome patients
No full text“Una nuova mutazione nel gene STK11 è associate all’insorgenza della syndrome di peutz-Jeghers in una famiglia campana”
No full textIdentificazione di una delezione intragenica del gene LKB1/STK11 in un soggetto affetto da sindrome di Peutz-Jeghers mediata da sequenze Alu
No full textImplication of adenomatous polyposis coli and MUTYH mutations in familial colorectal polyposis.
No full textPURPOSE: Familial adenomatous polyposis is an autosomal dominantly inherited syndrome characterized by hundreds or thousands of colorectal polyps and a high risk of colorectal cancer at a young age. Truncating germline mutations in the adenomatous polyposis coli gene are detected in approximately 80 percent of patients with classical familial adenomatous polyposis and in approximately 10 percent of the attenuated familial adenomatous polyposis patients. METHODS: We investigated the adenomatous polyposis coli and MUTYH genes mutations in a well-characterized series of 25 unrelated Italian patients with familial adenomatous polyposis. RESULTS: We characterized the specific adenomatous polyposis coli gene mutation in 10 probands, and identified eight truncating mutations (4 novel and 4 known mutations) and two splicing mutations. One of these, a novel missense mutation in exon 15, activates an exonic splicing enhancer control sequence. Moreover, 11 MUTYH gene mutations have been identified in 7 patients without a dominant family history of polyposis. CONCLUSIONS: This study enlarges the genotype-phenotype correlations of familial adenomatous polyposis and suggests that messenger alterations could be responsible for a subset of familial adenomatous polyposis cases without germ-line adenomatous polyposis coli or MUTYH gene mutations. It also confirms that genotype-phenotype correlations in MUTYH-associated polyposis are very complex
High Frequency of Haplotype HLA-DQ7 in Celiac Disease Patients from South Italy: Retrospective Evaluation of 5,535 Subjects at Risk of Celiac Disease.
No full textBackgroundCeliac disease (CD) has a strong genetic component mainly due to HLA DQ2/DQ8 encoding genes. However, a minority of CD patients are DQ2/DQ8-negative. To address this issue, we retrospectively characterized HLA haplotypes in 5,535 subjects at risk of CD (either relatives of CD patients or subjects with CD-like symptoms) referred to our center during a 10-year period.MethodsWe identified loci DQA1/DQB1/DRB1 by sequence-specific oligonucleotide-PCR and sequence-specific primer-PCR; anti-transglutaminase IgA/IgG and anti-endomysium IgA by ELISA and indirect immunofluorescence, respectively.ResultsWe diagnosed CD in 666/5,535 individuals, 4.2% of whom were DQ2/DQ8-negative. Interestingly, DQ7 was one of the most abundant haplotypes in all CD patients and significantly more frequent in DQ2/DQ8-negative (38%) than in DQ2/DQ8-positive CD patients (24%) (pConclusionOur data lend support to the concept that DQ7 represents an additive or independent CD risk haplotype with respect to DQ2/DQ8 haplotypes but this finding should be verified in other large CD populations
Gluten consumption and inflammation affect the development of celiac disease in at-risk children
No full text: Gene expression, lipidomic and growth impairment findings suggest that the natural history of celiac disease (CD) starts before the gluten-induced immune response. Gluten intake in the first years of life is a controversial risk factor. We aimed to estimate the risk of developing CD associated with the amount of gluten intake and the serum inflammatory profile in genetically predisposed infants. From an Italian cohort of children at risk for CD, we enrolled 27 children who developed CD (cases) and 56 controls matched by sex and age. A dietary interview at 9, 12, 18, 24 and 36 months was performed. Serum cytokines (INFγ, IL1β, IL2, IL4, IL6, IL10 IL12p70, IL17, and TNFα) were analysed at 4 and 36 months. Infants who developed CD by 6 years showed an increase in serum cytokines (INFγ, IL1β, IL2, IL6, IL10, IL12p70 and TNFα) at 4 months of age before gluten introduction. CD cases ate significantly more gluten in the second year of life than controls, and gluten intake in the second year of life was strongly correlated with serum cytokines (INFγ, IL2, IL4, IL12p70, IL17) at 36 months only in CD cases. The dietary pattern of infants who developed CD was characterized by high consumption of biscuits and fruit juices and low intake of milk products, legumes, vegetables and fruits. Genetically predisposed infants who developed CD showed a unique serum cytokine profile at 4 months before gluten consumption. The amount of gluten was strongly correlated with an inflammatory profile in serum cytokines at 36 months only in infants who developed CD
Alu-mediated genomic deletion of the serine/threonine protein kinase 11 (STK11) gene in Peutz-Jeghers syndrome.
No full textAbstract.
Background & Aims; Peutz-Jeghers syndrome (PJS) is an autosomal dominantly inherited syndrome characterized by mucocutanoeus pigmentation, multiple hamartomatous polyps in the gastrointestinal tract and an increased risk of cancer at a young age. Inactivating germ-line mutations in the tumor suppressor gene STK11/LKB1 have been detected in approximately 80% of patients.
The aim of this work is to clarify the molecular basis of the disease in Italian PJS patients.
Methods: We investigate the STK11/LKB1 gene mutations in a well-characterized series of 9 unrelated Italian PJS patients, by using a combination of PCR, RT-PCR, DNA sequencing, Southern blot analysis and real-time polymerase chain reaction techniques.
Results: We have characterized the specific STK11 mutation in 6 probands, and identified 2 truncating mutations (1 novel and 1 known mutation), one missense known mutation in the exon four, and two novel small in-frame deletions in the exon six. Finally, we have found an intra-exonic in-frame deletion encompassing exons 2 and 4: the possible mechanism leading to this genomic rearrangement is most likely an Alu-Alu homologous recombination.
Conclusions: In our study point mutations, small scale deletions/insertions and exonic STK11 deletions account for about 67% of PJS; mutations in other STK11 related genes examined have not be found. Other gene inactivating methods, such as chromosomal rearrangements mediated by Alu-Alu homologous recombination, which cannot be detected by routinely molecular biology screening methods, might be responsible for PJS in mutations negative population subset. However, the existence of genetic heterogeneity cannot be excluded
- …
