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397 results on '"Bottini, N."'

8. Human LMPTP in complex with inhibitor

Author

Stanford, S.M., primary, Diaz, M.A., additional, Ardecky, R.J., additional, Zou, J., additional, Roosild, T., additional, Holmes, Z.J., additional, Hedrick, M.P., additional, Rodiles, S., additional, Santelli, E., additional, Chung, T.D.Y., additional, Jackson, M.R., additional, Bottini, N., additional, and Pinkerton, A.B., additional

Published
2021
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10. Differential association of two PTPN22 coding variants with Crohn’s disease and ulcerative colitis

Author

Weersma R K, Roberts R L, Gearry R B, Ponsioen C Y, Wijmenga C, van Bodegraven A A, Crusius J B, Barclay M L, Bottini N, López-Nevot M A, Cueto I, Nieto A, Alcain G, Taxonera C, Mendoza J L, Rodrigo L, Cardeña C, van Sommeren S, Gómez-García M, Fransen K, Espino-Paisán L, Diaz-Gallo L M, Urcelay E, Merriman T R, Alizadeh B Z, and Martin J

Subjects
Medicine
Published
2010
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11. Adaptation to past malarial endemia and susceptibility to common diseases in modern populations: a study of adenosine deaminase and MN blood group genetic polymorphisms

Author

Bottini, N., Stefanini, L., Lucarelli, P., and Bottini, E.

Subjects
Asthma -- Research, Adenosine deaminase -- Research, Crohn's disease -- Research, Malaria -- Research, Disease susceptibility -- Research, Anthropology/archeology/folklore
Abstract

We carried out a study of adenosine deaminase (ADA) and MN blood group genetic polymorphisms in relation to past malarial morbidity in Sardinia and in relation to susceptibility to allergic asthma (a Th2 disorder) and Crohn's disease (a Th1 disorder) in the population of Rome. Eight hundred and eight schoolchildren, aged 7-14 years from 14 Sardinian villages located in the central area of the island, were considered. One hundred and twenty-two children with allergic asthma and 39 adult patients with Crohn's disease from the population of Rome were also studied. The data suggest an interaction between the two systems concerning resistance/susceptibility, both to malaria and to the diseases considered. In Sardinia, the frequency of the *[L.sup.M]/ADA*2 gametic type is negatively correlated with past malarial endemia, suggesting an increased susceptibility to malaria leading to its decrease in areas with high malarial endemia. In Rome, this gametic type is correlated negatively to allergic asthma and positively to Crohn's disease, suggesting a protective effect against allergic asthma and increased susceptibility to Crohn's disease. Am J Phys Anthropol 128:194-198, 2005. KEY WORDS malaria; ADA; MN system; Crohn's disease; bronchial asthma

Published
2005

12. ACP1 and human adaptability: association with past malarial morbidity in the Sardinian population

Author

Bottini, E., Palmarino, R., Lucarelli, P., Lista, F., and Bottini, N.

Subjects
Sardinia -- Demographic aspects, Human population genetics -- Italy, Malaria -- Genetic aspects, Genetic polymorphisms -- Research, Natural immunity -- Genetic aspects, Biological sciences
Abstract

The association between acid phosphatase locus 1 (ACP1) and past malarial morbidity in Sardinia has been examined, with results indicating that the S isoform plays a role in susceptibility to malaria, which is not mediated by glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. Possible mechanisms for ACP1 involvement in resistance to malaria are discussed.

Published
2001

34. Enzyme polymorphisms, smoking, and human reproduction. A study of human placental alkaline phosphates

Author

Magrini, A.., Bottini, N., Gloria-Bottini, F., Stefanini, L., Bergamaschi, A., Bottini, E., and Cosmi, E.

Subjects
Alkaline phosphatase -- Research, Smoking -- Risk factors, Genetic variation -- Research, Genetic polymorphisms -- Research, Biological sciences
Abstract

Recent studies shows that polymorphic variation of enzymes can influence the effect of smoking on intrauterine growth. Placental alkaline phosphatase (PLAP) is a highly polymorphic enzyme with several alleles connected with different enzymatic activities, produced by the embryo, and is found in maternal blood. Infants from smoking women 28 years or older show a strong decrease of both PLAP *1/*1 and *2/*2 homozygous types.

Published
2003

35. CD45-mediated control of TCR tuning in naïve and memory CD8+ T cells

Author

Cho, JH, Kim, HO, Ju, YJ, Kye, YC, Lee, GW, Lee, SW, Yun, CH, Bottini, N, Webster, K, Goodnow, CC, Surh, CD, King, C, Sprent, J, Cho, JH, Kim, HO, Ju, YJ, Kye, YC, Lee, GW, Lee, SW, Yun, CH, Bottini, N, Webster, K, Goodnow, CC, Surh, CD, King, C, and Sprent, J

Abstract

Continuous contact with self-major histocompatibility complex (MHC) ligands is essential for survival of naïve T cells but not memory cells. This surprising finding implies that T cell subsets may vary in their relative T-cell receptor (TCR) sensitivity. Here we show that in CD8+ T cells TCR sensitivity correlates inversely with levels of CD5, a marker for strong self-MHC reactivity. We also show that TCR sensitivity is lower in memory CD8+ T cells than naïve cells. In both situations, TCR hypo-responsiveness applies only to short-term TCR signalling events and not to proliferation, and correlates directly with increased expression of a phosphatase, CD45 and reciprocal decreased expression of activated LCK. Inhibition by high CD45 on CD8+ T cells may protect against overt TCR auto-MHC reactivity, while enhanced sensitivity to cytokines ensures strong responses to foreign antigens.

Published
2016

36. Type 1 diabetes: evidence of interaction between ACP1 and ADA1 gene polymorphisms

Author

Saccucci, P, MANCA BITTI, Ml, Bottini, N, Rapini, N, Piccinini, S, D'Annibale, F, Chiarelli, F, Verrotti, A, Bottini, E, and Gloria, F

Subjects
single nucleotide, genetic predisposition to disease, case-control studies, health, proto-oncogene proteins, protein tyrosine phosphatases, infant, polymorphism, adenosine deaminase, Settore MED/01 - Statistica Medica, alleles, diabetes mellitus, type 1, polymorphism, single nucleotide, infant, newborn, humans, type 1, newborn, diabetes mellitus
Published
2009

37. Role of PTPN22 in type 1 diabetes

Author

Bottini, N

Subjects
diabete autoimmune, PTPN22, type 1 diabetes, polymorphism, signal transduction, immunologia, genetica, polimorfismo, trasduzione del segnale, Settore MED/07 - Microbiologia e Microbiologia Clinica
Published
2008

38. Genetica dell’atopia

Author

Bottini, N, Gloria Bottini, F, Greco, E, De Risi, E, DE NARDO, D, and Fontana, L

Subjects
asma, allergia, asma, atopia, genetica, atopia, Settore MED/09 - Medicina Interna, genetica, allergia
Published
2008

40. Protein-tyrosine phosphorylation in Bacillus subtilis

Author

Ivan Mijakovic, Dina Petranovic, Bottini, N., Deutscher, J., Peter Ruhdal Jensen, Technical University of Denmark [Lyngby] (DTU), University of California [Los Angeles] (UCLA), University of California, Microbiologie et Génétique Moléculaire (MGM), Institut National de la Recherche Agronomique (INRA)-Institut National Agronomique Paris-Grignon (INA P-G)-Centre National de la Recherche Scientifique (CNRS), and Centre National de la Recherche Scientifique (CNRS)

Subjects
BACILLUS SUBTILIS, PHOSPHATASE, Systems Biology, [SDV]Life Sciences [q-bio], Protein-Tyrosine Kinases, Adaptation, Physiological, SUBSTRATE SPEFICITY, PROTEIN TYROSINE KINASE, Bacterial Proteins, Phosphoprotein Phosphatases, Phosphorylation, Phosphotyrosine, Protein Processing, Post-Translational, PROTEIN PHOSPHORYLATION
Abstract

International audience; In recent years bacterial protein-tyrosine kinases have been found to phosphorylate a growing number of protein substrates, including RNA polymerase sigma factors, UDP-glucose dehydrogenases and single-stranded DNA-binding proteins. The activity of these protein substrates was affected by tyrosine phosphorylation, indicating that this post-translational modification could regulate physiological processes ranging from stress response and exopolysaccharide synthesis to DNA metabolism. Some interesting work in this field was done in Bacillus subtilis, and we here present the current state of knowledge on protein-tyrosine phosphorylation in this gram-positive model organism. With its two kinases, two kinase modulators, three phosphatases and at least four different tyrosine-phosphorylated substrates, B. subtilis is the bacterium with the highest number of presently known participants in the global network of protein-tyrosine phosphorylation. We discuss the approaches currently used to chart this network: ranging from studies of substrate specificity and the physiological role of tyrosine phosphorylation of individual enzymes to the global approaches at the level of systems biology.

Published
2005

43. Risk of type 1 diabetes in childhood and maternal age at delivery, interaction with ACP1 and sex

Author

Bottini, N, Meloni, G, Lucarelli, P, Amante, A, Saccucci, P, Gloria, F, and Bottini, E

Subjects
Adult, Male, Protein Tyrosine Phosphatase, Non-Receptor Type 1, Genotype, Obstetric, Middle Aged, Delivery, Obstetric, Protein Tyrosine Phosphatases, Isoenzymes, Diabetes Mellitus, Type 1, Female, Risk Factors, Humans, Maternal Age, Proto-Oncogene Proteins, Child, Genetic Predisposition to Disease, Settore MED/01 - Statistica Medica, Diabetes Mellitus, Protein Tyrosine Phosphatase, Non-Receptor Type 1, Delivery, Type 1
Abstract

We have investigated the possible role of ACP1 (also known as cLMWPTP: cytosolic low molecular weight phosphotyrosine phosphatase), a highly polymorphic enzyme involved in signal transduction of T-cell receptor, insulin receptor and other growth factors in the relationship between maternal age at delivery and risk of type 1 diabetes in the offspring.One hundred and eighty-nine consecutive children with type 1 diabetes (TIDM) diagnosed at the Department of Pediatrics of the University of Sassari (Sardinia) were studied. A control sample of 5460 consecutive newborns from the same population was also studied.Maternal age at birth of children with type 1 diabetes has shifted towards high values. There is also an effect of birth order on the susceptibility to type 1 diabetes, which is independent of that due to maternal age. The proportion of low activity ACPl genotypes is much higher among children born from older mothers than among diabetic children born from relatively young mothers. There is a significant effect of sex, maternal age, sex-ACPl two-way interaction and sex-ACP1-maternal age three-way interaction on the age at diagnosis of diabetes.The present data confirm the strong association between maternal age at delivery and risk of type 1 diabetes in the child. In addition, our analysis suggests a complex interaction among maternal age, sex of infant and ACP1 concerning age at diagnosis of diabetes. Thus, risk and clinical course of type 1 diabetes seem to be dependent on both maternal environment during intrauterine development and foetal genetic factors.

Published
2004

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