Experts and Doctors on genetic predisposition to disease in Italy


Locale: Italy
Topic: genetic predisposition to disease

Top Publications

  1. Pisciotta L, Miccoli R, Cantafora A, Calabresi L, Tarugi P, Alessandrini P, et al. Recurrent mutations of the apolipoprotein A-I gene in three kindreds with severe HDL deficiency. Atherosclerosis. 2003;167:335-45 pubmed
    ..These levels, however, were lower in L141R carriers than in carriers of c.85 del C. Haplotype analysis performed using several polymorphisms suggested that both the c.85 del C and L141R are likely to be recurrent mutations. ..
  2. Rubattu S, Speranza R, Ferrari M, Evangelista A, Beccia M, Stanzione R, et al. A role of TNF-alpha gene variant on juvenile ischemic stroke: a case-control study. Eur J Neurol. 2005;12:989-93 pubmed
    ..01-3.3, P < 0.05). Our findings, obtained in a cohort of young Italian patients, may support the existence of a direct contributory role of TNF-alpha, a proinflammatory cytokine protein, in the susceptibility to brain damage. ..
  3. Tormene D, Beltramello P, Perlati M, Brandolin B, Barbar S, De Toffoli G, et al. The risk of cancer progression in women with gynecological malignancies and thrombophilic polymorphisms: a pilot case-control study. Clin Appl Thromb Hemost. 2009;15:535-9 pubmed publisher
    ..Larger case-control studies in similar cohort of patients are needed to confirm these findings. ..
  4. Di Donato S. Multisystem manifestations of mitochondrial disorders. J Neurol. 2009;256:693-710 pubmed publisher
    ..The available information on putative genotype-phenotype correlations and the related pathogenic mechanisms are summarized when appropriate. ..
  5. Nacmias B, Tedde A, Bagnoli S, Cellini E, Guarnieri B, Piacentini S, et al. Implication of GAB2 gene polymorphism in Italian patients with Alzheimer's disease. J Alzheimers Dis. 2009;16:513-5 pubmed publisher
    ..Our results support a possible implication of GAB2 genetic variant in AD. However, the observed association was confined to ApoE epsilon4 non-carriers, thus suggesting a possible role of GAB2 as an independent risk factor for AD. ..
  6. Sironi F, Trotta L, Antonini A, Zini M, Ciccone R, Della Mina E, et al. alpha-Synuclein multiplication analysis in Italian familial Parkinson disease. Parkinsonism Relat Disord. 2010;16:228-31 pubmed publisher
    ..Although SNCA duplication is an unusual cause of familial PD testing for it is worthwhile. The clinical presentation of duplicated cases may be more aggressive than usual. ..
  7. Pisani A, Imbriaco M, Zizzo C, Albeggiani G, Colomba P, Alessandro R, et al. A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report. BMC Cardiovasc Disord. 2012;12:39 pubmed publisher
    ..In our patient clinical picture showed a multisystemic involvement with early onset of symptoms, thus suggesting that these intronic mutations can be found even in patients with classical form of FD. ..
  8. Proverbio M, Mangano E, Gessi A, Bordoni R, Spinelli R, Asselta R, et al. Whole genome SNP genotyping and exome sequencing reveal novel genetic variants and putative causative genes in congenital hyperinsulinism. PLoS ONE. 2013;8:e68740 pubmed publisher
  9. Marin B, Logroscino G, Boumédiene F, Labrunie A, Couratier P, Babron M, et al. Clinical and demographic factors and outcome of amyotrophic lateral sclerosis in relation to population ancestral origin. Eur J Epidemiol. 2016;31:229-45 pubmed publisher
    ..This review sets the scene for a collaborative study involving a wide international consortium to investigate, using a standard methodology, the link between ancestry, environment, and ALS phenotype. ..

More Information

Publications433 found, 100 shown here

  1. Carrozzo M, Uboldi de Capei M, Dametto E, Fasano M, Arduino P, Broccoletti R, et al. Tumor necrosis factor-alpha and interferon-gamma polymorphisms contribute to susceptibility to oral lichen planus. J Invest Dermatol. 2004;122:87-94 pubmed
  2. Di Pasquale E, Beck Peccoz P, Persani L. Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene. Am J Hum Genet. 2004;75:106-11 pubmed
    ..BMP15 defects are involved in the pathogenesis of hypergonadotropic ovarian failure in humans. ..
  3. Zaffaroni D, Spinola M, Galvan A, Falvella F, Pazzaglia S, Saran A, et al. Met proto-oncogene juxtamembrane rare variations in mouse and humans: differential effects of Arg and Cys alleles on mouse lung tumorigenesis. Oncogene. 2005;24:1084-90 pubmed
  4. D Inca R, Annese V, Di Leo V, Latiano A, Quaino V, Abazia C, et al. Increased intestinal permeability and NOD2 variants in familial and sporadic Crohn's disease. Aliment Pharmacol Ther. 2006;23:1455-61 pubmed
    ..Conclusion Intestinal permeability is raised in Crohn's disease patients and relatives, with higher rates in familial vs. sporadic healthy relatives. CARD15 mutations are associated with abnormal permeability in ileal Crohn's disease. ..
  5. Piras I, Falchi A, Melis A, Ghiani M, Calo C, Varesi L, et al. 24 bp duplication of CHIT1 gene is not correlated with coronary artery disease in Corsica Island (France). Exp Mol Pathol. 2007;83:490-2 pubmed
    ..Gene prevalence and perhaps gene-disease associations vary according to ethnicity. Further studies, based on different ethnic groups, could be suitable to determine the implication of this polymorphism with respect to CAD. ..
  6. Borroni B, Archetti S, Costanzi C, Grassi M, Ferrari M, Radeghieri A, et al. Role of BDNF Val66Met functional polymorphism in Alzheimer's disease-related depression. Neurobiol Aging. 2009;30:1406-12 pubmed publisher
    ..This study puts emphasis on the usefulness of considering genetic background for better defining individualized risk profiles in AD. ..
  7. Fiocco U, Sfriso P, Oliviero F, Pagnin E, Scagliori E, Campana C, et al. Co-stimulatory modulation in rheumatoid arthritis: the role of (CTLA4-Ig) abatacept. Autoimmun Rev. 2008;8:76-82 pubmed publisher
    ..CTLA4-Ig shows the capacity, either ex vivo or in vivo, to interrupt at multiple steps the ongoing inflammatory and destructive process, and to concur in restoring the immunoregulatory balance in RA. ..
  8. Mazza M, Iulini B, Vaccari G, Acutis P, Martucci F, Esposito E, et al. Co-existence of classical scrapie and Nor98 in a sheep from an Italian outbreak. Res Vet Sci. 2010;88:478-85 pubmed publisher
  9. Pavanello S, Fedeli U, Mastrangelo G, Rota F, Overvad K, Raaschou Nielsen O, et al. Role of CYP1A2 polymorphisms on lung cancer risk in a prospective study. Cancer Genet. 2012;205:278-84 pubmed publisher
    ..e. lung carcinogen activation and lung inflammation). ..
  10. Day F, Ruth K, Thompson D, Lunetta K, Pervjakova N, Chasman D, et al. Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. Nat Genet. 2015;47:1294-1303 pubmed publisher
    ..Mendelian randomization analyses supported a causal effect of later ANM on breast cancer risk (∼6% increase in risk per year; P = 3 × 10(-14)), likely mediated by prolonged sex hormone exposure rather than DDR mechanisms. ..
  11. Perotti D, De Vecchi G, Testi M, Lualdi E, Modena P, Mondini P, et al. Germline mutations of the POU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14. Hum Mutat. 2004;24:400-7 pubmed
    ..Together with the finding of the expression of the POU6F2 mouse homolog in both fetal and adult kidney, our observations suggest that the gene is a tumor suppressor and is involved in hereditary predisposition to WT. ..
  12. Fontanesi L, Scotti E, Buttazzoni L, Dall Olio S, Bagnato A, Lo Fiego D, et al. Confirmed association between a single nucleotide polymorphism in the FTO gene and obesity-related traits in heavy pigs. Mol Biol Rep. 2010;37:461-6 pubmed publisher
    ..01) and in the commercial pigs (intramuscular fat content of different muscles, P < 0.05 or P < 0.10; lean meat content, P < 0.05; BFT, P < 0.05; intermuscular fat content in the hams, P < 0.05). ..
  13. Citterio L, Simonini M, Zagato L, Salvi E, Delli Carpini S, Lanzani C, et al. Genes involved in vasoconstriction and vasodilation system affect salt-sensitive hypertension. PLoS ONE. 2011;6:e19620 pubmed publisher
    ..In conclusions, these findings point to a clear association between body sodium-blood pressure relations and molecules modulating the contractile state of vascular cells through an increase in cytoplasmic calcium concentration. ..
  14. Vezzoli G, Terranegra A, Soldati L. Calcium-sensing receptor gene polymorphisms in patients with calcium nephrolithiasis. Curr Opin Nephrol Hypertens. 2012;21:355-61 pubmed publisher
    ..Polymorphisms at the regulatory region may predispose to nephrolithiasis by changing tubular expression of the CaSR. CaSR genotype may be a marker to identify patients prone to develop calcium nephrolithiasis. ..
  15. Franklin T, Saab B, Mansuy I. Neural mechanisms of stress resilience and vulnerability. Neuron. 2012;75:747-61 pubmed publisher
    ..We also touch upon recent findings suggesting a role for epigenetic mechanisms and neurogenesis in these processes and briefly discuss promising avenues of future investigation. ..
  16. Modiano D, Luoni G, Sirima B, Lanfrancotti A, Petrarca V, Cruciani F, et al. The lower susceptibility to Plasmodium falciparum malaria of Fulani of Burkina Faso (west Africa) is associated with low frequencies of classic malaria-resistance genes. Trans R Soc Trop Med Hyg. 2001;95:149-52 pubmed
  17. Casula M, Colombino M, Satta M, Cossu A, Ascierto P, Bianchi Scarra G, et al. BRAF gene is somatically mutated but does not make a major contribution to malignant melanoma susceptibility: the Italian Melanoma Intergroup Study. J Clin Oncol. 2004;22:286-92 pubmed
    ..The present study further suggests that patient origin may account for different mutation rates in candidate genes. ..
  18. Paracchini V, Pedotti P, Taioli E. Genetics of leptin and obesity: a HuGE review. Am J Epidemiol. 2005;162:101-14 pubmed
  19. Tedde A, Laura Putignano A, Bagnoli S, Congregati C, Milla M, Sorbi S, et al. Interleukin-10 promoter polymorphisms influence susceptibility to ulcerative colitis in a gender-specific manner. Scand J Gastroenterol. 2008;43:712-8 pubmed publisher
    ..This finding could be related to the previously documented lower IL10 production associated with the -1082A allele and to the IL10 down-regulating effect of estrogens. ..
  20. Albani D, Prato F, Fenoglio C, Batelli S, Dusi S, De Mauro S, et al. Association study to evaluate the serotonin transporter and apolipoprotein E genes in frontotemporal lobar degeneration in Italy. J Hum Genet. 2008;53:1029-33 pubmed publisher
    ..A significant correlation [P = 0.018, OR (95% CI): 2.1 (1.1-3.9)] between rs4795541 S-allele presence and FTLD susceptibility was found. In summary, the rs4795541 might be important for FTLD susceptibility in the Italian population. ..
  21. Bosticardo M, Marangoni F, Aiuti A, Villa A, Grazia Roncarolo M. Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome. Blood. 2009;113:6288-95 pubmed publisher
    ..A full understanding of these mechanisms is still needed to further implement new therapeutic strategies for this peculiar immunodeficiency. ..
  22. Galvan A, Vorraro F, Cabrera W, Ribeiro O, Pazzaglia S, Mancuso M, et al. Genetic heterogeneity of inflammatory response and skin tumorigenesis in phenotypically selected mouse lines. Cancer Lett. 2010;295:54-8 pubmed publisher
    ..These findings point to the complex link between skin tumor susceptibility and inflammatory response in mice. ..
  23. Gallo M, Marcello N, Curcio S, Colao R, Geracitano S, Bernardi L, et al. A novel pathogenic PSEN1 mutation in a family with Alzheimer's disease: phenotypical and neuropathological features. J Alzheimers Dis. 2011;25:425-31 pubmed publisher
    ..The peculiarity of the age at onset (not very early), the long course, and the frontal involvement, together with the rather complete absence of A?40 and of amyloid angiopathy, widen the spectrum of PSEN1-linked phenotypes. ..
  24. Ghezzi D, Marelli C, Achilli A, Goldwurm S, Pezzoli G, Barone P, et al. Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians. Eur J Hum Genet. 2005;13:748-52 pubmed
    ..Our study suggests that haplogroup K might confer a lower risk for PD in Italians, corroborating the idea that the mitochondrial oxidative phosphorylation pathway is involved in the susceptibility to idiopathic PD. ..
  25. Norata G, Ongari M, Garlaschelli K, Tibolla G, Grigore L, Raselli S, et al. Effect of the -420C/G variant of the resistin gene promoter on metabolic syndrome, obesity, myocardial infarction and kidney dysfunction. J Intern Med. 2007;262:104-12 pubmed
  26. Mandelli M, Savoiardo M, Minati L, Mariotti C, Aquino D, Erbetta A, et al. Decreased diffusivity in the caudate nucleus of presymptomatic huntington disease gene carriers: which explanation?. AJNR Am J Neuroradiol. 2010;31:706-10 pubmed publisher
    ..The observed initial decrease and subsequent increase of MD might be related to the combined effect of increased oligodendroglial population, putatively a developmental abnormality, and incipient neurodegeneration. ..
  27. Gargani G. [Transmissible spongiform encephalopathies. History, epidemiology, etiological, hyphotheses]. Minerva Med. 2002;93:59-73 pubmed
    ..The strains of the PrPscr are described on the basis of some characters observed through the passages in rodents and of molecular pattern. The possible future epidemiological evolution of the vCJD is also discussed. ..
  28. Arosio B, Trabattoni D, Galimberti L, Bucciarelli P, Fasano F, Calabresi C, et al. Interleukin-10 and interleukin-6 gene polymorphisms as risk factors for Alzheimer's disease. Neurobiol Aging. 2004;25:1009-15 pubmed
    ..023). These results raise questions regarding the inflammatory theory in AD, pointing to a pivotal role of IL-10 and IL-6 and a selective alteration in this network. ..
  29. Pinessi L, Binello E, De Martino P, Gallone S, Gentile S, Rainero I, et al. The 1246G-->A polymorphism of the HCRTR2 gene is not associated with migraine. Cephalalgia. 2007;27:945-9 pubmed
    ..Comparison of the clinical features of the disease with the 1246G-->A genotypes showed no significant difference. Our data suggest that the HCRTR2 gene is not a genetic risk factor in migraine. ..
  30. Penco S, Buscema M, Patrosso M, Marocchi A, Grossi E. New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background. BMC Bioinformatics. 2008;9:254 pubmed publisher
    ..Indeed, the application of a novel artificial intelligence-based method offers a new insight into genetic markers of sporadic ALS pointing out the existence of a strong genetic background. ..
  31. Capoluongo E, Onder G, Concolino P, Russo A, Santonocito C, Bernabei R, et al. GSTM1-null polymorphism as possible risk marker for hypertension: results from the aging and longevity study in the Sirente Geographic Area (ilSIRENTE study). Clin Chim Acta. 2009;399:92-6 pubmed publisher
    ..The knowledge of GSTM1 variant status seems to be potentially useful to predict a possible hypertensive status after 80 years of age. This study underlines a possible importance of the GSTM1 enzyme for blood pressure regulation. ..
  32. Molteni R, Cattaneo A, Calabrese F, Macchi F, Olivier J, Racagni G, et al. Reduced function of the serotonin transporter is associated with decreased expression of BDNF in rodents as well as in humans. Neurobiol Dis. 2010;37:747-55 pubmed publisher
  33. Galimberti D, Dell Osso B, Fenoglio C, Villa C, Cortini F, Serpente M, et al. Progranulin gene variability and plasma levels in bipolar disorder and schizophrenia. PLoS ONE. 2012;7:e32164 pubmed publisher
    ..Nevertheless, a larger replication analysis would be needed to confirm these preliminary results. ..
  34. McLeod O, Silveira A, Valdés Márquez E, Björkbacka H, Almgren P, Gertow K, et al. Genetic loci on chromosome 5 are associated with circulating levels of interleukin-5 and eosinophil count in a European population with high risk for cardiovascular disease. Cytokine. 2016;81:1-9 pubmed publisher
    ..Our data do not support a role for IL-5 levels and eosinophil count in intima-media thickness, however SNPs associated with IL-5 and eosinophils might influence stability of the atherosclerotic plaque via modulation of RAD50 levels. ..
  35. McKay J, Hung R, Han Y, Zong X, Carreras Torres R, Christiani D, et al. Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. Nat Genet. 2017;49:1126-1132 pubmed publisher
    ..Other loci include genes such as a cholinergic nicotinic receptor, CHRNA2, and the telomere-related genes OFBC1 and RTEL1. Further exploration of the target genes will continue to provide new insights into the etiology of lung cancer...
  36. Bedeschi M, Calvello M, Paganini L, Pezzani L, Baccarin M, Fontana L, et al. Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases. BMC Med Genet. 2017;18:115 pubmed publisher
    ..624-629delGGCCCC at exon 1 of CDKN1C, with unknown clinical significance, in two unrelated cases. Taken together, these findings suggest that KCNQ1OT1:TSS-DMR could be a susceptibility locus for the isolated omphalocele. ..
  37. Gambino R, Bo S, Gentile L, Musso G, Pagano G, Cavallo Perin P, et al. Transcription factor 7-like 2 (TCF7L2) polymorphism and hyperglycemia in an adult Italian population-based cohort. Diabetes Care. 2010;33:1233-5 pubmed publisher
    ..08 [95% CI 1.35-3.20] and 3.56 [2.11-5.98] in CT and TT genotypes, respectively). The T-allele of TCF7L2 rs7903146 polymorphism was independently associated with increasing fasting glucose values toward hyperglycemia in the follow-up. ..
  38. Tomaiuolo M, Favuzzi G, Cappucci F, Pisanelli D, Tiscia G, Musto P, et al. Factor XI deficiency: two novel mutations in asymptomatic Italian patients. Haemophilia. 2010;16:767-70 pubmed publisher
    ..On the other hand, the compound heterozygosis might explain low FXI levels, but it is not associated with bleeding. Our data confirm that a severe FXI deficiency is not necessarily associated with bleeding. ..
  39. Lambertini M, Goldrat O, Toss A, Azim H, Peccatori F, Ignatiadis M, et al. Fertility and pregnancy issues in BRCA-mutated breast cancer patients. Cancer Treat Rev. 2017;59:61-70 pubmed publisher
    ..The final goal of this manuscript is to highlight current and upcoming knowledge in this field for trying to help physicians dealing with these patients during oncofertility counseling. ..
  40. Peissel B, Zaffaroni D, Pazzaglia S, Manenti G, Zanesi N, Zedda I, et al. Use of intercross outbred mice and single nucleotide polymorphisms to map skin cancer modifier loci. Mamm Genome. 2001;12:291-4 pubmed
    ..These results point to the important role of the Stks1 locus in mouse skin tumorigenesis in independent crosses. The shortened Skts1 mapping region should facilitate the identification of candidate genes. ..
  41. Tonini R, Franceschetti S, Parolaro D, Sala M, Mancinelli E, Tininini S, et al. Involvement of CDC25Mm/Ras-GRF1-dependent signaling in the control of neuronal excitability. Mol Cell Neurosci. 2001;18:691-701 pubmed
    ..In addition, we showed that mice lacking Ras-GRF1 displayed a higher seizure susceptibility following acute administration of convulsant drugs. Taken together, these results demonstrated a role for Ras-GRF1 in neuronal excitability. ..
  42. Rotondo A, Mazzanti C, Dell osso L, Rucci P, Sullivan P, Bouanani S, et al. Catechol o-methyltransferase, serotonin transporter, and tryptophan hydroxylase gene polymorphisms in bipolar disorder patients with and without comorbid panic disorder. Am J Psychiatry. 2002;159:23-9 pubmed
    ..The findings support the hypothesis that comorbid panic disorder identifies a genetic subtype of bipolar disorder and suggest a role for COMT and 5-HTT in vulnerability to these disorders. ..
  43. Minoretti P, Gazzaruso C, Vito C, Emanuele E, Bianchi M, Coen E, et al. Effect of the functional toll-like receptor 4 Asp299Gly polymorphism on susceptibility to late-onset Alzheimer's disease. Neurosci Lett. 2006;391:147-9 pubmed
    ..37 (95% CI: 0.20-0.69, P=0.002). Our data further support a role for innate immunity in neurodegeneration and give the first evidence that the TLR4 Asp299Gly variant may be protective toward the development of LOAD...
  44. Rubattu S, Hubner N, Ganten U, Evangelista A, Stanzione R, Di Angelantonio E, et al. Reciprocal congenic lines for a major stroke QTL on rat chromosome 1. Physiol Genomics. 2006;27:108-13 pubmed
    ..Our results underscore the functional importance of the Chr 1 stroke QTL. Furthermore, they underscore the utility of stroke/congenic lines in dissecting the genetics of stroke...
  45. Colacicco A, Solfrizzi V, D Introno A, Capurso C, Kehoe P, Seripa D, et al. Alpha-2-macroglobulin gene, oxidized low-density lipoprotein receptor-1 locus, and sporadic Alzheimer's disease. Neurobiol Aging. 2009;30:1518-20 pubmed publisher
  46. Gironi M, Guerini F, Beghi E, Antonini G, Martinelli Boneschi F, Ceresa L, et al. HLA-DRB1 polymorphisms distribution in chronic dysimmune polyneuropathy. Neuromuscul Disord. 2008;18:967-9 pubmed publisher
    ..A trend towards an increase of HLA-DRB1*11 in anti-MAG neuropathy was detected. ..
  47. Fumagalli M, Pozzoli U, Cagliani R, Comi G, Riva S, Clerici M, et al. Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions. J Exp Med. 2009;206:1395-408 pubmed publisher
    ..These data support the hygiene hypothesis for IBD and provide a large set of putative targets for susceptibility to helminth infections. ..
  48. Seripa D, Panza F, Franceschi M, D Onofrio G, Solfrizzi V, Dallapiccola B, et al. Non-apolipoprotein E and apolipoprotein E genetics of sporadic Alzheimer's disease. Ageing Res Rev. 2009;8:214-36 pubmed
    ..The second part of this article focused on some recently discovered aspects of the APOE polymorphism and their implications for SAD. An attempt to identify the future directions for non-APOE genetic research in SAD was also discussed. ..
  49. Altamura A, Mundo E, Cattaneo E, Pozzoli S, Dell Osso B, Gennarelli M, et al. The MCP-1 gene (SCYA2) and mood disorders: preliminary results of a case-control association study. Neuroimmunomodulation. 2010;17:126-31 pubmed publisher
  50. Rigoli L, Di Bella C, Fedele F, Procopio V, Amorini M, Lo Giudice G, et al. TLR4 and NOD2/CARD15 genetic polymorphisms and their possible role in gastric carcinogenesis. Anticancer Res. 2010;30:513-7 pubmed
    ..003, OR 5.18; p=0.03; OR 3.66, respectively). TLR4 and NOD2/CARD15 genes are associated with high risk Group III patients and, therefore, they appear to play a role in gastric carcinogenesis. ..
  51. Giardina E, Stocchi L, Foti Cuzzola V, Zampatti S, Gambardella S, Patrizi M, et al. A fluorescence-based sequence-specific primer PCR for the screening of HLA-B(*)57:01. Electrophoresis. 2010;31:3525-30 pubmed publisher
    ..The results of our study were first compared with a standard sequence-specific primer PCR technique and reported a concordance of 100%, and then a blind external validation further confirmed the accuracy of our method. ..
  52. Ceccarelli F, D Alfonso S, Perricone C, Carlomagno Y, Alessandri C, Croia C, et al. The role of eight polymorphisms in three candidate genes in determining the susceptibility, phenotype, and response to anti-TNF therapy in patients with rheumatoid arthritis. Clin Exp Rheumatol. 2012;30:939-42 pubmed
    ..For the first time, in an Italian cohort, we report the association between -156G/GG in OPN gene and RA susceptibility. Short-term response to anti-TNF therapy was not influenced by the genetic variants studied. ..
  53. Blanco I, Kuchenbaecker K, Cuadras D, Wang X, Barrowdale D, de Garibay G, et al. Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers. PLoS ONE. 2015;10:e0120020 pubmed publisher
    ..Together, the results of this study support the hypothesis of a causative link between altered function of AURKA-HMMR-TPX2-TUBG1 and breast carcinogenesis in BRCA1/2 mutation carriers. ..
  54. Moroni I, Gonano E, Comi G, Tegazzin V, Prelle A, Bordoni A, et al. Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility. J Neurol. 1995;242:127-33 pubmed
    ..We undertook a mutation analysis of RYR1 gene testing for the presence of five point mutations; in one pedigree a C1840-->T point mutation was detected, strictly segregating with in vitro MH susceptibility. ..
  55. Cellini E, Nacmias B, Forleo P, Piacentini S, Guarnieri B, Serio A, et al. Genetic and clinical analysis of spinocerebellar ataxia type 8 repeat expansion in Italy. Arch Neurol. 2001;58:1856-9 pubmed
    ..Patients carrying expanded alleles present peculiar phenotypic features, thus suggesting that unknown additional factors could probably predispose to the disease. ..
  56. Falvella F, Pascale R, Gariboldi M, Manenti G, De Miglio M, Simile M, et al. Stearoyl-CoA desaturase 1 (Scd1) gene overexpression is associated with genetic predisposition to hepatocarcinogenesis in mice and rats. Carcinogenesis. 2002;23:1933-6 pubmed
    ..These results suggest that the Scd1 gene represents a downstream target of hepatocellular tumor-modifier loci in two rodent species. ..
  57. Marino C, Giorda R, Luisa Lorusso M, Vanzin L, Salandi N, Nobile M, et al. A family-based association study does not support DYX1C1 on 15q21.3 as a candidate gene in developmental dyslexia. Eur J Hum Genet. 2005;13:491-9 pubmed
    ..While D1X1C1 is a good candidate gene for DD, we were unable to replicate the original findings between DYX1C1 gene and DD, perhaps due to genetic heterogeneity. ..
  58. Segat L, Pontillo A, Annoni G, Trabattoni D, Vergani C, Clerici M, et al. PIN1 promoter polymorphisms are associated with Alzheimer's disease. Neurobiol Aging. 2007;28:69-74 pubmed
    ..95, confidence interval 1.31-6.82). Finally, protein expression analyses revealed that subjects carrying the -842 CC genotype or the CC haplotype showed reduced levels of the PIN1 protein in peripheral mononuclear cells. ..
  59. Galbiati F, Pettinicchio A, Dragani T, Manenti G. Allelic effects of mouse Pas1 candidate genes in human lung cancer cell lines. Cancer Lett. 2006;244:176-81 pubmed
    ..These findings provide evidence that allelic variants of mouse Pas1 candidate genes differentially modulate growth of human cancer cells. ..
  60. Martinelli N, Trabetti E, Bassi A, Girelli D, Friso S, Pizzolo F, et al. The -1131 T>C and S19W APOA5 gene polymorphisms are associated with high levels of triglycerides and apolipoprotein C-III, but not with coronary artery disease: an angiographic study. Atherosclerosis. 2007;191:409-17 pubmed
    ..Different genotypes, i.e., APOA5 and APOC3 variants, may lead to similar biochemical phenotypes, namely hypertriglyceridemia, but to contrasting clinical phenotypes such as the presence of angiographically proven CAD. ..
  61. Persico M, Capasso M, Persico E, Masarone M, Renzo A, Spano D, et al. Interleukin-10 - 1082 GG polymorphism influences the occurrence and the clinical characteristics of hepatitis C virus infection. J Hepatol. 2006;45:779-85 pubmed
    ..037). The high IL-10 production, due to IL-10(-1082GG) genotype, influences the clinical expression of the HCV infection by increasing susceptibility to develop NHL and might contribute to the indolent form of the disease. ..
  62. Sechi G, Serra A. Wernicke's encephalopathy: new clinical settings and recent advances in diagnosis and management. Lancet Neurol. 2007;6:442-55 pubmed
    ..A systematic approach helps to ensure that patients receive a prompt diagnosis and adequate treatment...
  63. Fugazzola L, Muzza M, Mian C, Cordella D, Barollo S, Alberti L, et al. RET genotypes in sporadic medullary thyroid cancer: studies in a large Italian series. Clin Endocrinol (Oxf). 2008;69:418-25 pubmed publisher
    ..Further studies are warranted to elucidate whether these RET genotypes are in linkage disequilibrium with another susceptibility gene or whether these variants could play a role in the genesis of sMTC per se. ..
  64. Elia M, Falco M, Ferri R, Spalletta A, Bottitta M, Calabrese G, et al. CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy. Neurology. 2008;71:997-9 pubmed publisher
    ..Screening for CDKL5 mutations is strongly recommended in individuals with these clinical features. ..
  65. Raimondi S, Botteri E, Iodice S, Lowenfels A, Maisonneuve P. Gene-smoking interaction on colorectal adenoma and cancer risk: review and meta-analysis. Mutat Res. 2009;670:6-14 pubmed publisher
    ..None of the other common genetic polymorphisms involved in tobacco carcinogens metabolism seemed to modify the smoking-related risk of colorectal adenoma or cancer. ..
  66. Rotellini M, Fondi C, Paglierani M, Stomaci N, Raspollini M. Clear cell carcinoma of the bladder in a patient with a earlier clear cell renal cell carcinoma: a case report with morphologic, immunohistochemical, and cytogenetical analysis. Appl Immunohistochem Mol Morphol. 2010;18:396-9 pubmed publisher
    ..We discuss the morphologic features, the immunohistochemical staining with a new marker and the UroVysion FISH analysis to achieve a definitive diagnosis. ..
  67. Delbini P, Vaja V, Graziadei G, Duca L, Nava I, Refaldi C, et al. Genetic variability of TMPRSS6 and its association with iron deficiency anaemia. Br J Haematol. 2010;151:281–4 pubmed publisher
    ..Our preliminary results suggest a possible association between specific haplotypes of TMPRSS6 and IRIDA. ..
  68. Damia G, D INCALCI M. Genetic instability influences drug response in cancer cells. Curr Drug Targets. 2010;11:1317-24 pubmed
    ..More studies are needed on the importance of MMR for sensitivity to different anticancer regimens and drugs, so this knowledge can guide rational therapy according to the tumor MMR status. ..
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    ..We showed a relationship between Per3 polymorphism and postpartum depressive onset in bipolar disorder. ..
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    ..Results herein offer a model justifying the interaction between the major genetic (HLA-DRB*15) and environmental (vitamin D) factors associated with MS onset. ..
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    ..This defect could contribute to the bleeding tendency of these patients. The identification of a GPIb/IX/V defect in MHA-SBS platelets raises the question of the differential diagnosis from heterozygous Bernard-Soulier syndrome. ..
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    ..These results indicate a complex multigenic nature of the Pas1 locus, and point to a functional role for both intronic and exonic polymorphisms of the six genes of the Pas1 haplotype in lung tumor susceptibility. ..
  74. Moroni I, Bugiani M, D Incerti L, Maccagnano C, Rimoldi M, Bissola L, et al. L-2-hydroxyglutaric aciduria and brain malignant tumors: a predisposing condition?. Neurology. 2004;62:1882-4 pubmed
    ..The authors report on four patients who developed a malignant brain tumor during the course of the disease. This association points to a possible role of L-2-hydroxyglutaric aciduria in predisposing to brain tumorigenesis. ..
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    ..LEV may benefit myoclonus in PME of mitochondrial origin without altering mitochondrial function, and it could be considered the drug of first choice for the treatment of myoclonus in MERRF...
  76. Betterle C, Lazzarotto F, Spadaccino A, Basso D, Plebani M, Pedini B, et al. Celiac disease in North Italian patients with autoimmune Addison's disease. Eur J Endocrinol. 2006;154:275-9 pubmed
    ..3%). In patients with AAD there is a high prevalence of both CD and IgA deficiency. Consequently, it is important to screen for CD with tissue transglutaminase autoantibodies of the IgA class and for IgA levels. ..
  77. Sorarù G, D Ascenzo C, Polo A, Palmieri A, Baggio L, Vergani L, et al. Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females. J Neurol Sci. 2008;264:100-5 pubmed
    ..Here we suggest that myopathic changes in SBMA muscle are not only related to denervation and that muscle satellite cells may have a role in the pathogenesis of muscle damage. ..
  78. Sorrentino S, Forleo C, Iacoviello M, Guida P, D Andria V, Favale S. Endothelin system polymorphisms in tilt test-induced vasovagal syncope. Clin Auton Res. 2009;19:347-54 pubmed publisher
    ..As the endothelin system participates in the regulation of cardiovascular homeostasis, the aim of this study was to analyse the role of these genetic variants in influencing tilt-induced vasovagal syncope...
  79. Lampugnani M, Orsenigo F, Rudini N, Maddaluno L, Boulday G, Chapon F, et al. CCM1 regulates vascular-lumen organization by inducing endothelial polarity. J Cell Sci. 2010;123:1073-80 pubmed publisher
    ..We propose that VEC, CCM1 and Rap1 form a signaling complex. In the absence of any of these proteins, AJs are dismantled, cell polarity is lost and vascular lumenal structure is severely altered. ..
  80. Mezzasoma L, Antognelli C, Del Buono C, Stracci F, Cottini E, Cochetti G, et al. Expression and biological-clinical significance of hTR, hTERT and CKS2 in washing fluids of patients with bladder cancer. BMC Urol. 2010;10:17 pubmed publisher
    ..A combined model improved over the single marker BC diagnosis. ..
  81. Colombo F, Falvella F, Galvan A, Frullanti E, Kunitoh H, Ushijima T, et al. A 5'-region polymorphism modulates promoter activity of the tumor suppressor gene MFSD2A. Mol Cancer. 2011;10:81 pubmed publisher
  82. Michelucci A, Paolini C, Boncompagni S, Canato M, Reggiani C, Protasi F. Strenuous exercise triggers a life-threatening response in mice susceptible to malignant hyperthermia. FASEB J. 2017;31:3649-3662 pubmed publisher
    ..Michelucci, A., Paolini, C., Boncompagni, S., Canato, M., Reggiani, C., Protasi, F. Strenuous exercise triggers a life-threatening response in mice susceptible to malignant hyperthermia. ..
  83. Olivieri O, Stranieri C, Girelli D, Pizzolo F, Grazioli S, Russo C, et al. Homozygosity for angiotensinogen 235T variant increases the risk of myocardial infarction in patients with multi-vessel coronary artery disease. J Hypertens. 2001;19:879-84 pubmed
    ..AGT 235 T homozygous patients with multivessel CAD have an increased risk of myocardial infarction as compared with subjects with clinically similar phenotype but different genotype. ..
  84. Noris M, Caprioli J, Bresin E, Mossali C, Pianetti G, Gamba S, et al. Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype. Clin J Am Soc Nephrol. 2010;5:1844-59 pubmed publisher
    ..Results underline the need of genetic screening for all susceptibility factors as part of clinical management of aHUS and for identification of patients who could safely benefit from kidney transplant. ..
  85. Valenti L, Rametta R, Ruscica M, Dongiovanni P, Steffani L, Motta B, et al. The I148M PNPLA3 polymorphism influences serum adiponectin in patients with fatty liver and healthy controls. BMC Gastroenterol. 2012;12:111 pubmed
    ..Modulation of serum adiponectin might be involved in mediating the susceptibility to steatosis, NASH, and hepatocellular carcinoma in carriers of the 148?M PNPLA3 variant without CHC, with potential therapeutic implications. ..
  86. Beffagna G, Cecchetto A, Dal Bianco L, Lorenzon A, Angelini A, Padalino M, et al. R25C mutation in the NKX2.5 gene in Italian patients affected with non-syndromic and syndromic congenital heart disease. J Cardiovasc Med (Hagerstown). 2013;14:582-6 pubmed publisher
    ..Our results confirm that NKX2.5 mutations are not a common cause of CHD; furthermore, the p.R25C variation may increase susceptibility to development of CHD in patients with and without chromosomal abnormalities. ..
  87. Battaglia M, Ogliari A, Zanoni A, Citterio A, Pozzoli U, Giorda R, et al. Influence of the serotonin transporter promoter gene and shyness on children's cerebral responses to facial expressions. Arch Gen Psychiatry. 2005;62:85-94 pubmed
    ..02). Children who manifest higher levels of shyness or have 1 or 2 copies of the short allele of the serotonin transporter promoter gene appear to have a different pattern of processing affective stimuli of interpersonal hostility. ..
  88. Ventura P, Rosa M, Abbati G, Marchini S, Grandone E, Vergura P, et al. Hyperhomocysteinaemia in chronic liver diseases: role of disease stage, vitamin status and methylenetetrahydrofolate reductase genetics. Liver Int. 2005;25:49-56 pubmed
    ..In conclusion hyperhomocysteinaemia is highly prevalent in liver cirrhosis but not in other chronic liver diseases; it may contribute to fibrogenesis and vascular complication of liver cirrhosis. ..
  89. Manuguerra M, Saletta F, Karagas M, Berwick M, Veglia F, Vineis P, et al. XRCC3 and XPD/ERCC2 single nucleotide polymorphisms and the risk of cancer: a HuGE review. Am J Epidemiol. 2006;164:297-302 pubmed
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    ..425 and 0.365, p<0.05). these results support the increased risk of developing early CAD and of having rapid progression of coronary stenosis in subjects carrying the C242T nucleotide transition among the Italian population. ..
  91. Musumeci S, Calabrese G, Bonaccorso C, D Antoni S, Brouwer J, Bakker C, et al. Audiogenic seizure susceptibility is reduced in fragile X knockout mice after introduction of FMR1 transgenes. Exp Neurol. 2007;203:233-40 pubmed
    ..We found that AGS susceptibility rescue is complete in the G6 mice and partial in YAC mice. Our data indicate that the introduction of the human FMR1 gene in Fmr1 KO mice is able to revert the Fmr1 KO epileptic phenotype. ..
  92. Serretti A, Olgiati P, De Ronchi D. Genetics of Alzheimer's disease. A rapidly evolving field. J Alzheimers Dis. 2007;12:73-92 pubmed
    ..Genomics will provide a dynamic picture of biological processes in AD and new targets for the forthcoming anti-AD drugs. ..