Genomes and Genes
Experts and Doctors on humans in San Giovanni Rotondo, Apulia, Italy
Locale: San Giovanni Rotondo, Apulia, Italy
Publications115 found, 100 shown here
- Zignego A, Ramos Casals M, Ferri C, Saadoun D, Arcaini L, Roccatello D, et al. International therapeutic guidelines for patients with HCV-related extrahepatic disorders. A multidisciplinary expert statement. Autoimmun Rev. 2017;16:523-541 pubmed publisher..The present recommendations, based on qualified expert experience and specific literature, will focus on etiological (antiviral) therapies and/or traditional pathogenetic treatments that still maintain their therapeutic utility. ..
- Prudente S, Chandalia M, Morini E, Baratta R, Dallapiccola B, Abate N, et al. The Q121/Q121 genotype of ENPP1/PC-1 is associated with lower BMI in non-diabetic whites. Obesity (Silver Spring). 2007;15:1-4 pubmed..008). These data suggest that the QQ genotype of the ENPP1/PC-1 gene is associated with lower BMI. If similar results are confirmed in prospective studies, the K121Q polymorphism may help identify people at risk for obesity. ..
- Latiano A, Palmieri O, Latiano T, Corritore G, Bossa F, Martino G, et al. Investigation of multiple susceptibility loci for inflammatory bowel disease in an Italian cohort of patients. PLoS ONE. 2011;6:e22688 pubmed publisher..024) was demonstrated. We confirmed in a large Italian cohort the associations with CD and UC of newly identified genes, both in adult and pediatric cohort of patients, with some influence on sub-phenotypes. ..
- Perri F, Piepoli A, Stanziale P, Merla A, Zelante L, Andriulli A. Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and the serine protease inhibitor, Kazal type 1 (SPINK1) gene in patients with alcoholic chronic pancreatitis. Eur J Hum Genet. 2003;11:687-92 pubmed..The supposed genetic susceptibility to ACP relies on other yet unknown gene(s) which could affect the alcohol metabolism or modulate the pancreatic inflammatory response to alcohol abuse. ..
- Mangia A, Santoro R, Sarli R, Mottola L, Piazzolla V, Petruzzellis D, et al. IL28B CC-genotype association with HLA-DQB1*0301 allele increases the prediction of spontaneous HCV RNA clearance in thalassaemic HCV-infected patients. Antivir Ther. 2011;16:1309-16 pubmed publisher..16-15.33, respectively). With the addition of DQB1*0301, the accuracy of the prediction increased from 63% to 69%. In addition to IL28B CC-genotype, HLA DQB1*0301 helps in predicting natural clearance of HCV after acute infection. ..
- Prudente S, Copetti M, Morini E, Mendonca C, Andreozzi F, Chandalia M, et al. The SH2B1 obesity locus and abnormal glucose homeostasis: lack of evidence for association from a meta-analysis in individuals of European ancestry. Nutr Metab Cardiovasc Dis. 2013;23:1043-9 pubmed publisher..96; 0.89-1.04) or in the meta-analysis (OR = 1.01; 0.98-1.05). Our data exclude a role for the SH2B1 obesity locus in the modulation of AGH. ..
- Carnevale V, Dionisi S, Nofroni I, Romagnoli E, Paglia F, De Geronimo S, et al. Potential clinical utility of a new IRMA for parathyroid hormone in postmenopausal patients with primary hyperparathyroidism. Clin Chem. 2004;50:626-31 pubmed..Our results indicate that the three investigated assays have similar diagnostic sensitivities in PHPT. ..
- D Onofrio G, Panza F, Seripa D, Sancarlo D, Paris F, Cascavilla L, et al. The APOE polymorphism in Alzheimer's disease patients with neuropsychiatric symptoms and syndromes. Int J Geriatr Psychiatry. 2011;26:1062-70 pubmed publisher..In AD patients with NPS, however, APOE ?4-carrier status was associated with an increased risk of affective and apathetic syndromes. ..
- Bisceglia M, Gatta A, Tomezzoli A, Donataccio M. Multiple spontaneous liver cell adenomas of different types (liver adenomatosis). Adv Anat Pathol. 2009;16:172-9 pubmed publisher..A prototypical case of surgically resected multiple spontaneous liver cell adenomas of various types, including HCA of T-FNH type and steatotic type, previously interpreted in different ways, affecting a young girl, is presented herein. ..
- Ortega Moreno L, Lamacchia O, Salvemini L, De Bonis C, De Cosmo S, Cignarelli M, et al. The paradoxical association of adiponectin with mortality rate in patients with type 2 diabetes: evidence of synergism with kidney function. Atherosclerosis. 2016;245:222-7 pubmed publisher..Further studies are needed to address if the strong interwoven effect of adiponectin and GFR turns to be useful in improving previously validated tools for predicting mortality in T2D. ..
- Bisceglia M, Bisceglia S, Bisceglia M. Muscle spindle and Pacinian corpuscle: conceptions, misconceptions, and the far-fetched hypothesis of an experienced surgical pathologist. Pathologica. 2011;103:4-7 pubmed
- Perri F, Festa V, Merla A, Quitadamo M, Clemente R, Andriulli A. Amoxicillin/tetracycline combinations are inadequate as alternative therapies for Helicobacter pylori infection. Helicobacter. 2002;7:99-104 pubmed..Although the amoxicillin/tetracycline combination is attractive (inexpensive, safe, and with low primary resistance rate), it can not be recommended for H. pylori eradication. ..
- Aucella F, Bisceglia L, De Bonis P, Gigante M, Caridi G, Barbano G, et al. WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes. Pediatr Nephrol. 2006;21:1393-8 pubmed..WT1 hot spot mutation analysis should be routinely done in children with SRNS; if the molecular screening anticipates any further therapeutic approach it may modify the long term therapeutic strategy. ..
- Barchetta I, Capoccia D, Baroni M, Buzzetti R, Cavallo M, De Cosmo S, et al. The "Sapienza University Mortality and Morbidity Event Rate (SUMMER) study in diabetes": Study protocol. Nutr Metab Cardiovasc Dis. 2016;26:103-8 pubmed publisher..ClinicalTrials.gov, NCT02311244; URL https://clinicaltrials.gov/ct2/show/NCT02311244?term=SUMMER&rank=5. ..
- Gasparini P, Grifa A, Savasta S, Merlo I, Bisceglia L, Totaro A, et al. The motilin gene: subregional localisation, tissue expression, DNA polymorphisms and exclusion as a candidate gene for the HLA-associated immotile cilia syndrome. Hum Genet. 1994;94:671-4 pubmed..Sequence and segregation analysis of the MLN gene carried out in two families, in which the disease locus was previously assigned to 6p21.3, exclude MLN as a candidate gene for the HLA-associated form of ICS. ..
- De Cosmo S, Trevisan R, Dalla Vestra M, Vedovato M, Argiolas A, Solini A, et al. PC-1 amino acid variant Q121 is associated with a lower glomerular filtration rate in type 2 diabetic patients with abnormal albumin excretion rates. Diabetes Care. 2003;26:2898-902 pubmed..Among patients with type 2 diabetes with abnormal AER, those carrying the Q PC-1 genotype have more severe DN but not a faster GFR decline than KK patients, thus suggesting faster DN development since diabetes diagnosis in XQ patients. ..
- Sacco M, Di Giorgio G. Sudden death in Prader-Willi syndrome during growth hormone therapy. Horm Res. 2005;63:29-32 pubmed..We suggest that further epidemiological studies are required in order to determine more accurately the frequency of this causal connection and better understand its pathogenesis. ..
- Merla G, Brunetti Pierri N, Micale L, Fusco C. Copy number variants at Williams-Beuren syndrome 7q11.23 region. Hum Genet. 2010;128:3-26 pubmed publisher..23 CNV phenotypes. Here, we review the clinical and molecular findings and the recent insights on genomic disorders associated with CNVs involving the 7q11.23 region. ..
- Lo Re O, Panebianco C, Porto S, Cervi C, Rappa F, Di Biase S, et al. Fasting inhibits hepatic stellate cells activation and potentiates anti-cancer activity of Sorafenib in hepatocellular cancer cells. J Cell Physiol. 2018;233:1202-1212 pubmed publisher..Fasting or fasting-mimicking diet diets should be evaluated in preclinical studies as a mean to potentiate the activity of Sorafenib in clinical use. ..
- D Arena G, Vigliotti M, Dell Olio M, Villa M, Mantuano S, Scalzulli P, et al. Rituximab to treat chronic lymphoproliferative disorder-associated pure red cell aplasia. Eur J Haematol. 2009;82:235-9 pubmed publisher..Despite very limited in number, these results suggest that rituximab is very effective in the treatment of PRCA complicating B-cell chronic lymphoproliferative disorders. ..
- Seripa D, Bizzarro A, Pilotto A, Palmieri O, Panza F, D Onofrio G, et al. TOMM40, APOE, and APOC1 in primary progressive aphasia and frontotemporal dementia. J Alzheimers Dis. 2012;31:731-40 pubmed publisher..Although the genetics of PPA and bvFTD needs further investigation, our results suggested the presence of a different genetic background underlying PPA and bvFTD at the 19q13-q13.2 chromosomal region. ..
- Micale L, Loviglio M, Manzoni M, Fusco C, Augello B, Migliavacca E, et al. A fish-specific transposable element shapes the repertoire of p53 target genes in zebrafish. PLoS ONE. 2012;7:e46642 pubmed publisher..Our data pinpoint a remarkable example of convergent evolution: the exaptation of lineage-specific transposons to shape p53-regulated neuronal morphogenesis-related pathways in both a hominid and a teleost fish. ..
- Bicego M, Beltramello M, Melchionda S, Carella M, Piazza V, Zelante L, et al. Pathogenetic role of the deafness-related M34T mutation of Cx26. Hum Mol Genet. 2006;15:2569-87 pubmed..Our findings are consistent with a structural model, predicting that the mutation leads to a constriction of the channel pore. These data support the view that M34T is a pathological variant of Cx26 associated with hearing impairment. ..
- Perri F, Villani M, Festa V, Quitadamo M, Andriulli A. Predictors of failure of Helicobacter pylori eradication with the standard 'Maastricht triple therapy'. Aliment Pharmacol Ther. 2001;15:1023-9 pubmed..Smoking, age and pre-treatment UBT results are predictors of potential eradication failure. ..
- Mangia A, Thompson A, Santoro R, Piazzolla V, Tillmann H, Patel K, et al. An IL28B polymorphism determines treatment response of hepatitis C virus genotype 2 or 3 patients who do not achieve a rapid virologic response. Gastroenterology. 2010;139:821-7, 827.e1 pubmed publisher..16-2.7). An IL-28B polymorphism was associated with an SVR in patients infected with genotype 2/3 HCV who did not achieve a RVR. Analysis of IL-28B genotype might be used to guide treatment for these patients. ..
- Iacobellis A, Perri F, Valvano M, Caruso N, Niro G, Andriulli A. Long-term outcome after antiviral therapy of patients with hepatitis C virus infection and decompensated cirrhosis. Clin Gastroenterol Hepatol. 2011;9:249-53 pubmed publisher..Among patients with cirrhosis that is a result of HCV infection and who have progressed to a stage of liver decompensation, an SVR after antiviral therapy is a positive prognostic factor. ..
- Perri F, Festa V, Clemente R, Villani M, Quitadamo M, Caruso N, et al. Randomized study of two "rescue" therapies for Helicobacter pylori-infected patients after failure of standard triple therapies. Am J Gastroenterol. 2001;96:58-62 pubmed..0001). In patients who failed standard eradicating treatments, a 10-day course of rifabutin with pantoprazole and amoxycillin is more effective and well tolerated than the quadruple therapy. ..
- Grandone E, Margaglione M, Colaizzo D, Pavone G, Paladini D, Martinelli P, et al. Lower birth-weight in neonates of mothers carrying factor V G1691A and factor II A(20210) mutations. Haematologica. 2002;87:177-81 pubmed..7, 95% CI: 1.0-3.0). Mothers carrying the factor V G1691A or factor II A(20210) mutation have a significantly higher risk of delivering neonates with a lower birth-weight. ..
- Perri F, Festa V, Merla A, Barberani F, Pilotto A, Andriulli A. Randomized study of different 'second-line' therapies for Helicobacter pylori infection after failure of the standard 'Maastricht triple therapy'. Aliment Pharmacol Ther. 2003;18:815-20 pubmed..0001). Both RBCAT and PBTM can be used as second-line therapies. Conversely, PAL did not achieve satisfactory eradication rates. ..
- Palmieri O, Latiano A, Valvano R, D Inca R, Vecchi M, Sturniolo G, et al. Variants of OCTN1-2 cation transporter genes are associated with both Crohn's disease and ulcerative colitis. Aliment Pharmacol Ther. 2006;23:497-506 pubmed..004). Organic cation transporter gene cluster variants may confer susceptibility to both CD and UC, and the TC haplotype may influence some clinical features of IBD, but does not interact with CARD15 variants. ..
- Mangia A, Santoro R, Copetti M, Massari M, Piazzolla V, Spada E, et al. Treatment optimization and prediction of HCV clearance in patients with acute HCV infection. J Hepatol. 2013;59:221-8 pubmed publisher..85%, p=1.0). In patients with acute HCV hepatitis, lack of viral clearance may be predicted by absence of jaundice and IL28B CT/TT genotype; in patients with these characteristics, treatment needs to be started immediately. ..
- Palmieri O, Latiano A, Salvatori E, Valvano M, Bossa F, Latiano T, et al. The -A2518G polymorphism of monocyte chemoattractant protein-1 is associated with Crohn's disease. Am J Gastroenterol. 2010;105:1586-94 pubmed publisher..02). The -A2518G polymorphism seems to be associated with CD but does not influence MCP-1 plasma levels, which in contrast are increased in UC and CD with extensive colonic involvement. ..
- Tavano F, di Mola F, Piepoli A, Panza A, Copetti M, Burbaci F, et al. Changes in miR-143 and miR-21 expression and clinicopathological correlations in pancreatic cancers. Pancreas. 2012;41:1280-4 pubmed publisher..023). Deregulation of miR-143 and miR-21 may reflect histological features and biological behavior of different PCs. Association data with clinical parameters might indicate a prognostic significance for miR-143 and miR-21 in PCs. ..
- De Cosmo S, Motterlini N, Prudente S, Pellegrini F, Trevisan R, Bossi A, et al. Impact of the PPAR-gamma2 Pro12Ala polymorphism and ACE inhibitor therapy on new-onset microalbuminuria in type 2 diabetes: evidence from BENEDICT. Diabetes. 2009;58:2920-9 pubmed publisher..Evaluating Pro12Ala polymorphism may help identifying patients at risk who may benefit the most from early renoprotective therapy. ..
- Bisceglia G, Mastrodonato N, Rucci B, Corsa P, Parisi S, Tardio B, et al. Effectiveness of neoadjuvant radiotherapy in the treatment of locally advanced rectal cancer: a single-center experience in 263 patients. Dig Surg. 2010;27:217-23 pubmed publisher..Any changes in our treatment protocols will aim at improving results in terms of LR and DR. In view of the four-fold higher rate of DR as compared to LR, improvement of DR can be defined as the challenge for the future. ..
- Pagano L, Caira M, Tumbarello M, Fanci R, Garzia M, Vianelli N, et al. A prospective survey of febrile events in hematological malignancies. Ann Hematol. 2012;91:767-774 pubmed publisher..The Hema e-Chart provided a complete system for the epidemiological study of infectious complications in HMs...
- Marin B, Couratier P, Arcuti S, Copetti M, Fontana A, Nicol M, et al. Stratification of ALS patients' survival: a population-based study. J Neurol. 2016;263:100-11 pubmed publisher..Further research in the field of risk stratification could help physicians better anticipate prognosis of ALS patients, and help improve the design of randomized controlled trials. ..
- D Asdia M, Torrente I, Consoli F, Ferese R, Magliozzi M, Bernardini L, et al. Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. Eur J Med Genet. 2013;56:80-7 pubmed publisher..Accordingly, EVC2 exon 22 should be analyzed with priority by mutation screening in individuals with a suspected diagnosis of Weyers acrofacial dysostosis. ..
- Pilotto A, Leandro G, Franceschi M. Short- and long-term therapy for reflux oesophagitis in the elderly: a multi-centre, placebo-controlled study with pantoprazole. Aliment Pharmacol Ther. 2003;17:1399-406 pubmed..In the elderly, pantoprazole was highly effective in healing and reducing the relapse of oesophagitis; discontinuing active treatment after 6 months was associated with a significant increase in the relapse rate. ..
- Carnevale V, Inglese M, Annese M, De Matthaeis A, Santini S, Frusciante V, et al. Vitamin D and parameters of calcium homeostasis in inpatients with and without Type 2 diabetes mellitus. J Endocrinol Invest. 2012;35:853-8 pubmed publisher..Instead, uCa/Cr and Ca ex correlated with uNa/Cr only in patients without diabetes. Inpatients with diabetes did differ from those with other disorders for vitamin D status and calcium-phosphate homeostatic mechanism. ..
- Bisceglia M, Galliani C. Medullary sponge kidney associated with multivessel fibromuscular dysplasia: report of a case with renovascular hypertension. Int J Surg Pathol. 2008;16:85-90 pubmed publisher..This article describes an adult female who underwent nephrectomy for renovascular hypertension due to multivessel fibromuscular dysplasia with small left kidney found to be associated with MSK. ..
- D alessandro V, Greco A, Clemente C, Sperandeo M, De Cata A, Di Micco C, et al. Severe spontaneous acute tumor lysis syndrome and hypoglycemia in patient with germ cell tumor. Tumori. 2010;96:1040-3 pubmed..Severe hypoglycemia is another rare metabolic disorder, uncommonly associated with solid malignancies. The case described here is peculiar for the abrupt onset of these two rare conditions in a patient with a metastatic germ cell tumor...
- Guarnieri V, Valentina D Elia A, Baorda F, Pazienza V, Benegiamo G, Stanziale P, et al. CASR gene activating mutations in two families with autosomal dominant hypocalcemia. Mol Genet Metab. 2012;107:548-52 pubmed publisher..Our work enlarged the spectrum of mutations of the CASR and contributed to a better elucidation of the protein function. ..
- Fusco C, Micale L, Augello B, Mandriani B, Pellico M, De Nittis P, et al. HDAC6 mediates the acetylation of TRIM50. Cell Signal. 2014;26:363-9 pubmed publisher..We identified p300 and PCAF as two TRIM50 acetyltransferases and we further showed that a balance between ubiquitination and acetylation regulates TRIM50 degradation. ..
- Scillitani A, Dicembrino F, Chiodini I, Minisola S, Fusilli S, Di Giorgio A, et al. Global skeletal uptake of 99mTc-methylene diphosphonate (GSU) in patients affected by endocrine diseases: comparison with biochemical markers of bone turnover. Osteoporos Int. 2002;13:829-34 pubmed..The behavior of GSU and OC and U-DPD is non-uniform in disorders characterized by a marked uncoupling between bone formation and resorption. ..
- Savino M, D Apolito M, Formica V, Baorda F, Mari F, Renieri A, et al. Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles. Hum Mutat. 2004;24:441 pubmed..Except for p.T230P and p.F505_L506delinsLR, all the other mutations are predicted to determine a premature truncation of the protein...
- De Cosmo S, Minenna A, Zhang Y, Thompson R, Thompson R, Miscio G, et al. Association of the Q121 variant of ENPP1 gene with decreased kidney function among patients with type 2 diabetes. Am J Kidney Dis. 2009;53:273-80 pubmed publisher..04). P values not approaching a genome-wide level of significance. Our data suggest that patients with T2D carrying the ENPP1 Q121 variant are at increased risk of decreased GFR. ..
- Vigna C, Marchese N, Inchingolo V, Giannatempo G, Pacilli M, Di Viesti P, et al. Improvement of migraine after patent foramen ovale percutaneous closure in patients with subclinical brain lesions: a case-control study. JACC Cardiovasc Interv. 2009;2:107-13 pubmed publisher..001). In migraineurs with a large PFO and subclinical brain MRI lesions, a significant reduction in frequency and severity of migraine recurrence can be obtained by PFO closure when compared with frequency and severity in controls. ..
- Micale L, Muscarella L, Marzulli M, Augello B, Tritto P, D Agruma L, et al. VHL frameshift mutation as target of nonsense-mediated mRNA decay in Drosophila melanogaster and human HEK293 cell line. J Biomed Biotechnol. 2009;2009:860761 pubmed publisher..The UAS:Upf1(D45B) line represents a useful system to identify novel substrates of NMD pathway in Drosophila melanogaster. Finally, we suggest the possible role of NMD on the regulation of VHL mutations. ..
- Muscarella L, Barbano R, D Angelo V, Copetti M, Coco M, Balsamo T, et al. Regulation of KEAP1 expression by promoter methylation in malignant gliomas and association with patient's outcome. Epigenetics. 2011;6:317-25 pubmed..54, 95% CI 1.35-22.74). Our results further suggest that KEAP1 expression is epigenetically regulated. In addition we demonstrated that KEAP1 is frequently methylated in malignant gliomas and a predictor of patient's outcome. ..
- Prudente S, Morini E, Larmon J, Andreozzi F, Di Pietro N, Nigro A, et al. The SH2B1 obesity locus is associated with myocardial infarction in diabetic patients and with NO synthase activity in endothelial cells. Atherosclerosis. 2011;219:667-72 pubmed publisher..Further studies are needed to replicate this association and dissect the biology underlying this finding. ..
- Mangia A, Mottola L. What's new in HCV genotype 2 treatment. Liver Int. 2012;32 Suppl 1:135-40 pubmed publisher..Existing results suggest that the genetic evaluation of IL28B may be useful in patients with HCV-2 for predicting response in patients without RVR. ..
- Caldarola G, Zalaudek I, Argenziano G, Bisceglia M, Pellicano R. Granuloma faciale: a case report on long-term treatment with topical tacrolimus and dermoscopic aspects. Dermatol Ther. 2011;24:508-11 pubmed publisher..Herein we describe the clinical, dermoscopic and histopathological findings in a patient affected by GF and its response to long-term topical treatment with tacrolimus 0.1% cream. ..
- Eslam M, Hashem A, Romero Gomez M, Berg T, Dore G, Mangia A, et al. FibroGENE: A gene-based model for staging liver fibrosis. J Hepatol. 2016;64:390-398 pubmed publisher..96 in all three liver diseases. The AUROC of the FibroGENE-DT performed better than FIB-4, APRI, and NFS and Forns' index in most comparisons. A non-invasive decision tree model can predict liver fibrosis risk and aid decision making. ..
- Laino L, Bottillo I, Piedimonte C, Bernardini L, Torres B, Grammatico B, et al. Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement. Eur J Paediatr Neurol. 2016;20:971-976 pubmed publisher..Our study expands the molecular repertoire of IL1RAPL1 mutations in intellectual disability and points out the need of more accurate clinical descriptions to better define the related phenotype. ..
- Andriulli A, Annese V, Caruso N, Pilotto A, Accadia L, Niro A, et al. Proton-pump inhibitors and outcome of endoscopic hemostasis in bleeding peptic ulcers: a series of meta-analyses. Am J Gastroenterol. 2005;100:207-19 pubmed..To perform meta-analyses of studies on outcome of bleeding ulcers of different proton-pump inhibitors (PPIs) regimens, after stratification of patients by endoscopic stigmata, and analysis of studies with and without endotherapy...
- Marucci A, Miscio G, Padovano L, Boonyasrisawat W, Florez J, Doria A, et al. The role of HSP70 on ENPP1 expression and insulin-receptor activation. J Mol Med (Berl). 2009;87:139-144 pubmed publisher..Taken together these data suggest that HSP70, by affecting ENPP1 expression, may be a novel mediator of altered insulin signaling. ..
- Seripa D, Matera M, D Onofrio G, Sancarlo D, Bizzarro A, Cascavilla L, et al. Polymorphism C in the serotonin transporter gene in depression-free elderly patients with vascular dementia. Dement Geriatr Cogn Disord. 2010;29:424-31 pubmed publisher..Our findings suggest that polymorphism C in the promoter region of the SLC6A4 gene plays a minor role, if any, in the pathogenesis of VaD. ..
- Mazzoccoli G, Pazienza V, Panza A, Valvano M, Benegiamo G, Vinciguerra M, et al. ARNTL2 and SERPINE1: potential biomarkers for tumor aggressiveness in colorectal cancer. J Cancer Res Clin Oncol. 2012;138:501-11 pubmed publisher..001) and SERPINE1 (P = 0.001). ARNTL2 and SERPINE1 expression is increased in colorectal cancer and in a highly proliferative colon cancer cell line and is related to tumor invasiveness and aggressiveness. ..
- Eslam M, McLeod D, Kelaeng K, Mangia A, Berg T, Thabet K, et al. IFN-Î»3, not IFN-Î»4, likely mediates IFNL3-IFNL4 haplotype-dependent hepatic inflammation and fibrosis. Nat Genet. 2017;49:795-800 pubmed publisher..IFN-Î»3 rather than IFN-Î»4 likely mediates IFNL3-IFNL4 haplotype-dependent hepatic inflammation and fibrosis. ..
- Chiappella A, Martelli M, Angelucci E, Brusamolino E, Evangelista A, Carella A, et al. Rituximab-dose-dense chemotherapy with or without high-dose chemotherapy plus autologous stem-cell transplantation in high-risk diffuse large B-cell lymphoma (DLCL04): final results of a multicentre, open-label, randomised, controlled, phase 3 study. Lancet Oncol. 2017;18:1076-1088 pubmed publisher..These results do not support further consideration of the use of intensification of R-CHOP as an upfront strategy in patients with diffuse large B-cell lymphoma with poor prognosis. Fondazione Italiana Linfomi. ..
- Seripa D, Dobrina A, Margaglione M, Matera M, Gravina C, Vecile E, et al. Relevance of interleukin-1 receptor antagonist intron-2 polymorphism in ischemic stroke. Cerebrovasc Dis. 2003;15:276-81 pubmed..Our results implicate the IL-1Ra gene in the susceptibility to ischemic stroke, and suggest that IL-1Ra genotyping may be useful in the identification of patient subgroups for pharmacological intervention in IL-1 production or actions. ..
- Conti E, Dottorini T, Sarkozy A, Tiller G, Esposito G, Pizzuti A, et al. A novel PTPN11 mutation in LEOPARD syndrome. Hum Mutat. 2003;21:654 pubmed..This report demonstrates that rarer mutations other than Tyr279Cys and Thr468Met can be found in LS patients and the need of screening the whole gene in those negative for the commonest mutations...
- Annese V, Piepoli A, Latiano A, Lombardi G, Napolitano G, Caruso N, et al. HLA-DRB1 alleles may influence disease phenotype in patients with inflammatory bowel disease: a critical reappraisal with review of the literature. Dis Colon Rectum. 2005;48:57-64; discussion 64-5 pubmed
- Pellicano R, Tiodorovic Zivkovic D, Gourhant J, Catricala C, Ferrara G, Caldarola G, et al. Dermoscopy of cutaneous sarcoidosis. Dermatology. 2010;221:51-4 pubmed publisher..Lesions showing dermoscopically translucent yellow to orange globular-like or structureless areas associated with linear vessels should raise the suspicion of a granulomatous skin disease, including CS. ..
- Valente E, Logan C, Mougou Zerelli S, Lee J, Silhavy J, Brancati F, et al. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet. 2010;42:619-25 pubmed publisher..These data implicate a new family of proteins in the ciliopathies and further support allelism between ciliopathy disorders. ..
- Di Sebastiano P, Festa L, De Bonis A, Ciuffreda A, Valvano M, Andriulli A, et al. A modified fast-track program for pancreatic surgery: a prospective single-center experience. Langenbecks Arch Surg. 2011;396:345-51 pubmed publisher..Fast-track programs are feasible, easy, and also applicable for patients undergoing a major surgery such as pancreatic resection. ..
- Carmignani M, Volpe A, Aldea M, Soritau O, Irimie A, Florian I, et al. Glioblastoma stem cells: a new target for metformin and arsenic trioxide. J Biol Regul Homeost Agents. 2014;28:1-15 pubmed..A prompt clinical assessment of metformin and ATO in glioblastoma patients would represent a valid attempt to improve their survival. ..
- Carella M, Stewart G, Ajetunmobi J, Perrotta S, Grootenboer S, Tchernia G, et al. Genomewide search for dehydrated hereditary stomatocytosis (hereditary xerocytosis): mapping of locus to chromosome 16 (16q23-qter). Am J Hum Genet. 1998;63:810-6 pubmed..62 at recombination fraction .00 was obtained with marker D16S520. There are no recombination events defining the telomeric limit of the region, which therefore is quite large. No candidate genes map to this area...
- Aucella F, Margaglione M, Vigilante M, Gatta G, Grandone E, Forcella M, et al. PAI-1 4G/5G and ACE I/D gene polymorphisms and the occurrence of myocardial infarction in patients on intermittent dialysis. Nephrol Dial Transplant. 2003;18:1142-6 pubmed..8; 95% CI 1.2-6.9 and HR 2.1; 95% CI 1.1-4.2, respectively). In end-stage renal disease, PAI-1 4G/5G gene polymorphism may have a significant role in the occurrence of fatal and non-fatal MI. ..
- Corsa P, Parisi S, Raguso A, Troiano M, Perrone A, Cossa S, et al. Temozolomide and radiotherapy as first-line treatment of high-grade gliomas. Tumori. 2006;92:299-305 pubmed..Temozolomide, a novel alkylating agent, has shown promising results in the treatment of patients with high-grade gliomas, when used as single agent as well as in combination with radiation therapy...
- Niro G, Poli F, Andriulli A, Bianchi I, Bernuzzi F, Caliari L, et al. TNF-alpha polymorphisms in primary biliary cirrhosis: a northern and southern Italian experience. Ann N Y Acad Sci. 2009;1173:557-63 pubmed publisher..We report a distinct genetic risk of developing PBC in the Italian population, with no interaction between the HLA and TNF alleles. ..
- Bisceglia M, Cardone M, Fantasia L, Cenacchi G, Pasquinelli G. Mixed tumors, myoepitheliomas, and oncocytomas of the soft tissues are likely members of the same family: a clinicopathologic and ultrastructural study. Ultrastruct Pathol. 2001;25:399-418 pubmed..Comparisons with similar tumors of other sites are drawn, and suggestions for considering all of them as members of the same myoepithelial-derived tumor family are given...
- Annese V, Lombardi G, Perri F, D Incà R, Ardizzone S, Riegler G, et al. Variants of CARD15 are associated with an aggressive clinical course of Crohn's disease--an IG-IBD study. Am J Gastroenterol. 2005;100:84-92 pubmed..0001). No difference in SNPs frequency between familial and sporadic cases of CD was found. In our population, both familial and sporadic CD patients carrying at least one major variant of CARD15 had an aggressive clinical course. ..
- Piepoli A, Gentile A, Valvano M, Barana D, Oliani C, Cotugno R, et al. Lack of association between UGT1A7, UGT1A9, ARP, SPINK1 and CFTR gene polymorphisms and pancreatic cancer in Italian patients. World J Gastroenterol. 2006;12:6343-8 pubmed..0%) in HC. The only CFTR DeltaF508 mutation was recognized in three PC patients with a prevalence (4.9%) similar to HC. UGT1A7, UGT1A9, ARP, SPINK1 and CFTR gene polymorphisms are not associated with PC in Italian patients. ..
- Parisi S, Troiano M, Corsa P, Raguso A, Cossa S, Piazzolla E, et al. Role of external radiation therapy in urinary cancers. Ann Oncol. 2007;18 Suppl 6:vi157-61 pubmed
- Latiano A, Palmieri O, Valvano M, Bossa F, Latiano T, Corritore G, et al. Evaluating the role of the genetic variations of PTPN22, NFKB1, and FcGRIIIA genes in inflammatory bowel disease: a meta-analysis. Inflamm Bowel Dis. 2007;13:1212-9 pubmed..The association with the G559T polymorphism of the FcGRIIIA gene in CD patients deserves further investigation. ..
- Latiano A, Palmieri O, Valvano M, D Inca R, Caprilli R, Cucchiara S, et al. The association of MYO9B gene in Italian patients with inflammatory bowel diseases. Aliment Pharmacol Ther. 2008;27:241-8 pubmed..Our findings confirm the association between the MYO9B polymorphisms and susceptibility to both ulcerative colitis and Crohn's disease, with a weak influence on sub-phenotypic expression. ..
- Micale L, Augello B, Fusco C, Turturo M, Granatiero M, Piemontese M, et al. GPR143 mutational analysis in two Italian families with X-linked ocular albinism. Genet Test Mol Biomarkers. 2009;13:527-31 pubmed publisher..Finally, we emphasize the quantitative polymerase chain reaction as a valid tool for diagnosis of deletions in the GPR143 gene...
- Latiano A, Palmieri O, Corritore G, Valvano M, Bossa F, Cucchiara S, et al. Variants at the 3p21 locus influence susceptibility and phenotype both in adults and early-onset patients with inflammatory bowel disease. Inflamm Bowel Dis. 2010;16:1108-17 pubmed publisher..These variants appeared to influence either the distal location of the disease in the UC cohort and extraintestinal manifestations in CD patients. ..
- De Bonis P, Laborante A, Pizzicoli C, Stallone R, Barbano R, Longo C, et al. Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus. Mol Vis. 2011;17:2482-94 pubmed
- Micale L, Chaignat E, Fusco C, Reymond A, Merla G. The tripartite motif: structure and function. Adv Exp Med Biol. 2012;770:11-25 pubmed..Here we present the structure and the proposed function of each TRIM domain including the highly variable C-terminal domain. ..
- Prudente S, Morini E, Marselli L, Baratta R, Copetti M, Mendonca C, et al. Joint effect of insulin signaling genes on insulin secretion and glucose homeostasis. J Clin Endocrinol Metab. 2013;98:E1143-7 pubmed publisher..Our data provide further evidence that abnormal insulin signaling reduces β-cell function and impairs glucose homeostasis. ..