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1. Continuous and Discontinuous Phase Transitions in the evolution of a polygenic trait under stabilizing selective pressure

Author

Fierro, Annalisa, Cocozza, Sergio, Monticelli, Antonella, Scala, Giovanni, and Miele, Gennaro

Subjects
Quantitative Biology - Populations and Evolution
Abstract

The presence of phenomena analogous to phase transition in Statistical Mechanics, has been suggested in the evolution of a polygenic trait under stabilizing selection, mutation and genetic drift. By using numerical simulations of a model system, we analyze the evolution of a population of $N$ diploid hermaphrodites in random mating regime. The population evolves under the effect of drift, selective pressure in form of viability on an additive polygenic trait, and mutation. The analysis allows to determine a phase diagram in the plane of mutation rate and strength of selection. The involved pattern of phase transitions is characterized by a line of critical points for weak selective pressure (smaller than a threshold), whereas discontinuous phase transitions, characterized by metastable hysteresis, are observed for strong selective pressure. A finite size scaling analysis suggests the analogy between our system and the mean field Ising model for selective pressure approaching the threshold from weaker values. In this framework, the mutation rate, which allows the system to explore the accessible microscopic states, is the parameter controlling the transition from large heterozygosity (disordered phase) to small heterozygosity (ordered one)., Comment: 8 pages, 7 figures, 1 table

Published
2014

2. Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

Author

Campuzano, Victoria, Montermini, Laura, Moltò, Maria Dolores, Pianese, Luigi, Cossée, Mireille, Cavalcanti, Francesca, Monros, Eugenia, Rodius, François, Duclos, Franck, Monticelli, Antonella, Zara, Federico, Cañizares, Joaquin, Koutnikova, Hana, Bidichandani, Sanjay I., Gellera, Cinzia, Brice, Alexis, Trouillas, Paul, De Michele, Giuseppe, Filla, Alessandro, De Frutos, Rosa, Palau, Francisco, Patel, Pragna I., Di Donato, Stefano, Mandel, Jean-Louis, Cocozza, Sergio, Koenig, Michel, and Pandolfo, Massimo

Published
1996

7. Increased BDNF promoter methylation in the Wernicke area of suicide subjects

Author

Keller, Simona, Sarchiapone, Marco, Zarrilli, Federica, Videtic, Alja, Ferraro, Angelo, Carli, Vladimir, Sacchetti, Silvana, Lembo, Francesca, Angiolillo, Antonella, Jovanovic, Nikolina, Pisanti, Francesco, Tomaiulo, Rossella, Monticelli, Antonella, Balazic, Joze, Roy, Alec, Marusic, Andrej, Cocozza, Sergio, Fusco, Alfredo, Bruni, Carmelo B., Castaldo, Giuseppe, and Chiariotti, Lorenzo

Subjects
Suicidal behavior -- Development and progression, Suicidal behavior -- Research, Brain-derived neurotrophic factor -- Physiological aspects, Brain-derived neurotrophic factor -- Genetic aspects, Brain-derived neurotrophic factor -- Research, Health, Psychology and mental health
Published
2010

13. A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3

Author

Michele, Giuseppe De, Fusco, Maurizio De, Cavalcanti, Francesca, Filla, Alessandro, Marconi, Roberto, Volpe, Giampiero, Monticelli, Antonella, Ballabio, Andrea, Casari, Giorgio, and Cocozza, Sergio

Subjects
Genetic disorders -- Research, Chromosome mapping -- Usage, Paraplegia -- Genetic aspects, Paralysis, Spastic -- Genetic aspects, Biological sciences
Abstract

Genomewide linkage analysis has been carried out on a large consanguineous family affected with autosomal recessive spastic paraplegia. Evidence of linkage to chromosome 16q24.3 was found with markers D16S413 and D16S303. Age at onset for the family was 25-42 years. All already-described spastic paraplegia loci were excluded. Hereditary spastic paraplegias (HSPs) are inherited disorders characterized by weakness of lower limbs and progressive spasticity.

Published
1998

14. Pro 12Ala polymorphism of the PPARγ2 locus modulates the relationship between energy intake and body weight in type 2 diabetic patients

Author

Vaccaro, Olga, Lapice, Emanuela, Monticelli, Antonella, Giacchetti, Manuela, Castaldo, Imma, Galasso, Rocco, Pinelli, Michele, Donnarumma, Giovanna, Rivellese, Angela A., Cocozza, Sergio, and Riccardi, Gabriele

Subjects
Body mass index -- Research -- Health aspects, Type 2 diabetes -- Complications and side effects -- Research, Diet -- Research -- Health aspects, Health, Complications and side effects, Research, Health aspects
Abstract

OBJECTIVE--We explore the relationship among BMI, habitual diet, and the Pro12Ala polymorphism in the peroxisome proliferator-activated receptor (PPAR)γ2. RESEARCH DESIGN AND METHODS--The Pro12Ala variant was characterized in 343 unrelated type [...]

Published
2007

19. Schizophrenia and vitamin D related genes could have been subject to latitude-driven adaptation

Author

Monticelli Antonella, Pinelli Michele, Amato Roberto, Miele Gennaro, and Cocozza Sergio

Subjects
Evolution, QH359-425
Abstract

Abstract Background Many natural phenomena are directly or indirectly related to latitude. Living at different latitudes, indeed, has its consequences with being exposed to different climates, diets, light/dark cycles, etc. In humans, one of the best known examples of genetic traits following a latitudinal gradient is skin pigmentation. Nevertheless, also several diseases show latitudinal clinals such as hypertension, cancer, dismetabolic conditions, schizophrenia, Parkinson's disease and many more. Results We investigated, for the first time on a wide genomic scale, the latitude-driven adaptation phenomena. In particular, we selected a set of genes showing signs of latitude-dependent population differentiation. The biological characterization of these genes showed enrichment for neural-related processes. In light of this, we investigated whether genes associated to neuropsychiatric diseases were enriched by Latitude-Related Genes (LRGs). We found a strong enrichment of LRGs in the set of genes associated to schizophrenia. In an attempt to try to explain this possible link between latitude and schizophrenia, we investigated their associations with vitamin D. We found in a set of vitamin D related genes a significant enrichment of both LRGs and of genes involved in schizophrenia. Conclusions Our results suggest a latitude-driven adaptation for both schizophrenia and vitamin D related genes. In addition we confirm, at a molecular level, the link between schizophrenia and vitamin D. Finally, we discuss a model in which schizophrenia is, at least partly, a maladaptive by-product of latitude dependent adaptive changes in vitamin D metabolism.

Published
2010
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20. Uncoupling protein 2 G(-866)A polymorphism: a new gene polymorphism associated with C-reactive protein in type 2 diabetic patients C-reactive protein in type 2 diabetic patients

Author

Cocozza Sergio, Valsecchi Silvia, Pagano Gianfranco, Gambino Roberto, Monticelli Antonella, Pisu Elisabetta, Pinelli Michele, Lapice Emanuela, Riccardi Gabriele, and Vaccaro Olga

Subjects
Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Abstract Background This study evaluated the relationship between the G(-866)A polymorphism of the uncoupling protein 2 (UCP2) gene and high-sensitivity C reactive protein (hs-CRP) plasma levels in diabetic patients. Methods We studied 383 unrelated people with type 2 diabetes aged 40-70 years. Anthropometry, fasting lipids, glucose, HbA1c, and hs-CRP were measured. Participants were genotyped for the G (-866)A polymorphism of the uncoupling protein 2 gene. Results Hs-CRP (mg/L) increased progressively across the three genotype groups AA, AG, or GG, being respectively 3.0 ± 3.2, 3.6 ± 5.0, and 4.8 ± 5.3 (p for trend = 0.03). Since hs-CRP values were not significantly different between AA and AG genotype, these two groups were pooled for further analyses. Compared to participants with the AA/AG genotypes, homozygotes for the G allele (GG genotype) had significantly higher hs-CRP levels (4.8 ± 5.3 vs 3.5 ± 4.7 mg/L, p = 0.01) and a larger proportion (53.9% vs 46.1%, p = 0.013) of elevated hs-CRP (> 2 mg/L). This was not explained by major confounders such as age, gender, BMI, waist circumference, HbA1c, smoking, or medications use which were comparable in the two genotype groups. Conclusions The study shows for the first time, in type 2 diabetic patients, a significant association of hs-CRP levels with the G(-866)A polymorphism of UCP2 beyond the effect of major confounders.

Published
2010
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22. β2-adrenergic receptor and UCP3 variants modulate the relationship between age and type 2 diabetes mellitus

Author

Riccardi Gabriele, Lapice Emanuela, Donnarumma Giovanna, Cocozza Sergio, Acquaviva Fabio, Giacchetti Manuela, Pinelli Michele, Romano Geremia, Vaccaro Olga, and Monticelli Antonella

Subjects
Internal medicine, RC31-1245, Genetics, QH426-470
Abstract

Abstract Background It is widely accepted that Type 2 Diabetes Mellitus (T2DM) and other complex diseases are the product of complex interplay between genetic susceptibility and environmental causes. To cope with such a complexity, all the statistical and conceptual strategies available should be used. The working hypothesis of this study was that two well-known T2DM risk factors could have diverse effect in individuals carrying different genotypes. In particular, our effort was to investigate if a well-defined group of genes, involved in peripheral energy expenditure, could modify the impact of two environmental factors like age and obesity on the risk to develop diabetes. To achieve this aim we exploited a multianalytical approach also using dimensionality reduction strategy and conservative significance correction strategies. Methods We collected clinical data and characterised five genetic variants and 2 environmental factors of 342 ambulatory T2DM patients and 305 unrelated non-diabetic controls. To take in account the role of one of the major co-morbidity conditions we stratified the whole sample according to the presence of obesity, over and above the 30 Kg/m2 BMI threshold. Results By monofactorial analyses the ADRB2-27 Glu27 homozygotes had a lower frequency of diabetes when compared with Gln27 carriers (Odds Ratio (OR) 0.56, 95% Confidence Interval (CI) 0.36 – 0.91). This difference was even more marked in the obese subsample. Multifactor Dimensionality Reduction method in the non-obese subsample showed an interaction among age, ADRB2-16 and UCP3 polymorphisms. In individuals that were UCP3 T-carriers and ADRB2-16 Arg-carriers the OR increased from 1 in the youngest to 10.84 (95% CI 4.54–25.85) in the oldest. On the contrary, in the ADRB2-16 GlyGly and UCP3 CC double homozygote subjects, the OR for the disease was 1.10 (95% CI 0.53–2.27) in the youngest and 1.61 (95% CI 0.55–4.71) in the oldest. Conclusion Although our results should be confirmed by further studies, our data suggests that, when properly evaluated, it is possible to identify genetic factors that could influence the effect of common risk factors.

Published
2006
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23. Tracking the evolution of epialleles during neural differentiation and brain development: D- aspartate oxidase as a model gene

Author

Florio, Ermanno, Keller, Simona, Coretti, Lorena, Affinito, Ornella, Scala, Giovanni, Errico, Francesco, Fico, Annalisa, Boscia, Francesca, Sisalli Maria, José, Reccia, Mafalda Giovanna, Monticell, A, Miele, Gennaro, Monticelli, Antonella, Scorziello, Antonella, Lembo, Francesca, Coluzzi-D´Amato, Luca, Minchiotti, Gabriella, Avvedimento, Vittorio Enrico, Usiello, Alessandro, Cocozza, Sergio, Chiariotti, Lorenzo, Lääketieteen ja biotieteiden tiedekunta - Faculty of Medicine and Life Sciences, and University of Tampere

Subjects
Tilastotiede - Statistics and probability, Genetiikka, kehitysbiologia, fysiologia - Genetics, developmental biology, physiology, Tietojenkäsittely ja informaatiotieteet - Computer and information sciences
Published
2017

24. NIDDM associated with mutation in tyrosine kinase domain of insulin receptor gene

Author

Cocozza, Sergio, Porcellini, Antonio, Riccardi, Gabriele, Monticelli, Antonella, Condorelli, Gianluigi, Ferrara, Assiamira, Pianese, Luigi, Miele, Claudia, Capaldo, Brunella, Beguinot, Francesco, and Varrone, Stelio

Subjects
Insulin -- Receptors, Mutation (Biology) -- Physiological aspects -- Genetic aspects, Protein tyrosine kinase -- Physiological aspects -- Genetic aspects, Type 2 diabetes -- Genetic aspects, Health, Physiological aspects, Genetic aspects
Abstract

A population of 103 patients with non-insulin-dependent diabetes mellitus (NIDDM) was screened for mutations in the tyrosine kinase domain of the insulin receptor gene. Patient genomic DNAs corresponding to exons 17-21 of the insulin receptor gene have been amplified by polymerase chain reaction and analyzed by denaturing gradient gel electrophoresis (DGGE). One patient was identified with an altered pattern of mobility of exon 20 in the DGGE assay. Direct sequence of amplified DNA showed a single nucleotide substitution in the codon 1152(CGG --> CAG), resulting in the replacement of Arg with Gln. Two band appeared in the sequence of exon 20 of the insulin receptor (nucleotide position 3584), indicating that this patient was heterozygous for the mutation. Insulin binding to intact erythrocytes from the patient was in the normal range. Although autophosphorylation of the purified insulin receptor also seemed normal, its kinase activity toward the exogenous substrate poly Glu:Tyr (4:1) was undetectable. This mutation may impair insulin receptor kinase and contribute to insulin resistance in this patient. Diabetes 41:521-26, 1992, Although the existence of a strong genetic component in the etiology of non-insulin-dependent diabetes mellitus (NIDDM) is well established[1,2,] the nature of the genetic defect remains unknown. The candidate-gene approach [...]

Published
1992

26. Additional file 1: Table S1. of ampliMethProfiler: a pipeline for the analysis of CpG methylation profiles of targeted deep bisulfite sequenced amplicons

Author

Scala, Giovanni, Affinito, Ornella, Palumbo, Domenico, Florio, Ermanno, Monticelli, Antonella, Miele, Gennaro, Chiariotti, Lorenzo, and Cocozza, Sergio

Abstract

The table reports for each possible epihaplotype the number of methylated CpG and the number of filter-passed aligned reads containing the epihaplotype in each sample. (DOCX 100 kb)

Published
2016
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27. Tracking the evolution of epialleles during neural differentiation and brain development: D-Aspartate oxidase as a model gene

Author

Florio, Ermanno, primary, Keller, Simona, additional, Coretti, Lorena, additional, Affinito, Ornella, additional, Scala, Giovanni, additional, Errico, Francesco, additional, Fico, Annalisa, additional, Boscia, Francesca, additional, Sisalli, Maria Josè, additional, Reccia, Mafalda Giovanna, additional, Miele, Gennaro, additional, Monticelli, Antonella, additional, Scorziello, Antonella, additional, Lembo, Francesca, additional, Colucci-D'Amato, Luca, additional, Minchiotti, Gabriella, additional, Avvedimento, Vittorio Enrico, additional, Usiello, Alessandro, additional, Cocozza, Sergio, additional, and Chiariotti, Lorenzo, additional

Published
2016
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33. Ataxia de Friedreich: estudo clínico e molecular de 25 pacientes

Author

Albano, Lilian M. J., Zatz, Mayana, Chong, A. Kim, Bertola, Débora, Sugayama, Sofia M. M., Marques-Dias, Maria Joaquina, Kok, Fernando, Ferraretto, Ivan, Rosemberg, Sérgio, Cocozza, Sergio, and Monticelli, Antonella

Subjects
Trinucleotide expansion repeats, congenital, hereditary, and neonatal diseases and abnormalities, nutritional and metabolic diseases, Friedreich's ataxia, Expansão GAA, Ataxia de Friedreich, Expansão de trinucleotídios, GAA expansion
Abstract

INTRODUCTION: Friedreich's ataxia is a neurodegenerative disorder whose clinical diagnostic criteria for typical cases basically include: a) early age of onset (< 20 or 25 years), b) autosomal recessive inheritance, c) progressive ataxia of limbs and gait, and d) absence of lower limb tendon reflexes. METHODS: We studied the frequency and the size of expanded GAA and their influence on neurologic findings, age at onset, and disease progression in 25 Brazilian patients with clinical diagnosis of Friedreich's ataxia - 19 typical and 6 atypical - using a long-range PCR test. RESULTS: Abnormalities in cerebellar signs, in electrocardiography, and pes cavus occurred more frequently in typical cases; however, plantar response and speech were more frequently normal in this group when the both typical and atypical cases were compared. Homozygous GAA expansion repeats were detected in 17 cases (68%) - all typical cases. In 8 patients (32%) (6 atypical and 2 typical), no expansion was observed, ruling out the diagnosis of Friedreich's ataxia. In cases with GAA expansions, foot deformity, cardiac abnormalities, and some neurologic findings occurred more frequently; however, abnormalities in cranial nerves and in tomographic findings were detected less frequently than in patients without GAA expansions. DISCUSSION: Molecular analysis was imperative for the diagnosis of Friedreich's ataxia, not only for typical cases but also for atypical ones. There was no genotype-phenotype correlation. Diagnosis based only on clinical findings is limited; however, it aids in better screening for suspected cases that should be tested. Evaluation for vitamin E deficiency is recommended, especially in cases without GAA expansion. INTRODUÇÃO: A ataxia de Friedreich é uma doença neurodegenerativa e os critérios clínicos diagnósticos para os casos típicos incluem: a) idade de início precoce (< 20 ou 25 anos); b) herança autossômica recessiva; c) ataxia progressiva; e d) abolição dos reflexos tendinosos profundos. MÉTODOS: Estudou-se a freqüência e o tamanho das expansões GAA e a sua influência nos achados neurológicos, idade de início e progressão da doença, em 25 pacientes brasileiros com diagnóstico clínico de ataxia de Friedreich - 19 típicos e 6 atípicos, por PCR. RESULTADOS: Anormalidades sugestivas de comprometimento cerebelar, no ECG e a presença de pés cavos ocorreram com maior freqüência nos casos típicos; contudo, a resposta plantar e a fala mostraram-se mais freqüentemente normal neste grupo, quando comparados casos típicos e atípicos. A expansão GAA em homozigose foi detectada em 17 casos (68%) - todos típicos e, em 8 (32%) (6 atípicos e 2 típicos), não foi observada nenhuma expansão, excluindo-se o diagnóstico de ataxia de Friedreich. Deformidade de pés, anormalidades cardíacas e alguns achados neurológicos ocorreram mais freqüentemente, nos casos com expansão GAA, contudo, sinais de comprometimento dos pares cranianos e alterações dos achados tomográficos foram detectados menos frequentemente do que em pacientes sem expansão. DISCUSSÃO: A análise molecular é imprescindível para o diagnóstico de ataxia de Friedreich, não só para os casos típicos como também para os atípicos. Não há qualquer correlação entre o genótipo e o fenótipo. O diagnóstico baseado apenas nos achados clínicos é limitado, embora facilite a triagem para melhor selecionar os casos suspeitos que merecem ser testados. A dosagem sérica da vitamin E é recomendada , especialmente nos casos sem expansão GAA.

Published
2001

34. PGC-1alpha down-regulation affects the antioxidant response in Friedreich's ataxia.

Author

Marmolino, Daniele, Manto, Mario, Acquaviva, Fabio, Vergara, Paola, Ravella, Ajaya Babu, Monticelli, Antonella, Pandolfo, Massimo, Marmolino, Daniele, Manto, Mario, Acquaviva, Fabio, Vergara, Paola, Ravella, Ajaya Babu, Monticelli, Antonella, and Pandolfo, Massimo

Abstract

BACKGROUND: Cells from individuals with Friedreich's ataxia (FRDA) show reduced activities of antioxidant enzymes and cannot up-regulate their expression when exposed to oxidative stress. This blunted antioxidant response may play a central role in the pathogenesis. We previously reported that Peroxisome Proliferator Activated Receptor Gamma (PPARgamma) Coactivator 1-alpha (PGC-1alpha), a transcriptional master regulator of mitochondrial biogenesis and antioxidant responses, is down-regulated in most cell types from FRDA patients and animal models. METHODOLOGY/PRINCIPAL FINDINGS: We used primary fibroblasts from FRDA patients and the knock in-knock out animal model for the disease (KIKO mouse) to determine basal superoxide dismutase 2 (SOD2) levels and the response to oxidative stress induced by the addition of hydrogen peroxide. We measured the same parameters after pharmacological stimulation of PGC-1alpha. Compared to control cells, PGC-1alpha and SOD2 levels were decreased in FRDA cells and did not change after addition of hydrogen peroxide. PGC-1alpha direct silencing with siRNA in control fibroblasts led to a similar loss of SOD2 response to oxidative stress as observed in FRDA fibroblasts. PGC-1alpha activation with the PPARgamma agonist (Pioglitazone) or with a cAMP-dependent protein kinase (AMPK) agonist (AICAR) restored normal SOD2 induction. Treatment of the KIKO mice with Pioglitazone significantly up-regulates SOD2 in cerebellum and spinal cord. CONCLUSIONS/SIGNIFICANCE: PGC-1alpha down-regulation is likely to contribute to the blunted antioxidant response observed in cells from FRDA patients. This response can be restored by AMPK and PPARgamma agonists, suggesting a potential therapeutic approach for FRDA., Journal Article, Research Support, Non-U.S. Gov't, SCOPUS: ar.j, info:eu-repo/semantics/published

Published
2010

35. PPAR-gamma agonist Azelaoyl PAF increases frataxin protein and mRNA expression: new implications for the Friedreich's ataxia therapy.

Author

Marmolino, Daniele, Acquaviva, Fabio, Pinelli, Michele, Monticelli, Antonella, Castaldo, Imma, Filla, Alessandro, Cocozza, Sergio, Marmolino, Daniele, Acquaviva, Fabio, Pinelli, Michele, Monticelli, Antonella, Castaldo, Imma, Filla, Alessandro, and Cocozza, Sergio

Abstract

Friedreich's ataxia is a neurodegenerative disease due to frataxin deficiency, and thus, drugs increasing the frataxin amount are excellent candidates for therapy. By screening Gene Expression Omnibus profiles, we identified records showing a frataxin response to the peroxisome proliferator-activated receptors gamma (PPAR-gamma) agonist rosiglitazone. We decided to investigate the effect of the PPAR-gamma agonist Azelaoyl PAF on the frataxin protein and mRNA expression profile. We treated human neuroblastoma cells SKNBE and primary fibroblasts from skin biopsies from Friedreich's ataxia (FRDA) patients and healthy controls with the PPAR-gamma agonist Azelaoyl PAF. We show in this paper for the first time that Azelaoyl PAF significantly increases the intracellular frataxin levels by twofold in the neuroblastoma cell line SKNBE and fibroblasts from FRDA patients and that Azelaoyl PAF increases frataxin protein through a transcriptional mechanism. PPAR-gamma agonist Azelaoyl PAF increases both messenger RNA and protein levels of frataxin. We hypothesize that PPAR-gamma agonists could play a role in the treatment of FRDA, and our results offer the logical bases to further investigate the usefulness of this group of agents for the treatment of the FRDA., Journal Article, Research Support, Non-U.S. Gov't, info:eu-repo/semantics/published

Published
2009

39. Tracking the evolution of epialleles during neural differentiation and brain development: D-Aspartate oxidaseas a model gene

Author

Florio, Ermanno, Keller, Simona, Coretti, Lorena, Affinito, Ornella, Scala, Giovanni, Errico, Francesco, Fico, Annalisa, Boscia, Francesca, Sisalli, Maria Josè, Reccia, Mafalda Giovanna, Miele, Gennaro, Monticelli, Antonella, Scorziello, Antonella, Lembo, Francesca, Colucci-D'Amato, Luca, Minchiotti, Gabriella, Avvedimento, Vittorio Enrico, Usiello, Alessandro, Cocozza, Sergio, and Chiariotti, Lorenzo

Abstract

ABSTRACTWe performed ultra-deep methylation analysis at single molecule level of the promoter region of developmentally regulated D-Aspartate oxidase(Ddo), as a model gene, during brain development and embryonic stem cell neural differentiation. Single molecule methylation analysis enabled us to establish the effective epiallele composition within mixed or pure brain cell populations. In this framework, an epiallele is defined as a specific combination of methylated CpG within Ddolocus and can represent the epigenetic haplotype revealing a cell-to-cell methylation heterogeneity. Using this approach, we found a high degree of polymorphism of methylated alleles (epipolymorphism) evolving in a remarkably conserved fashion during brain development. The different sets of epialleles mark stage, brain areas, and cell type and unravel the possible role of specific CpGs in favoring or inhibiting local methylation. Undifferentiated embryonic stem cells showed non-organized distribution of epialleles that apparently originated by stochastic methylation events on individual CpGs. Upon neural differentiation, despite detecting no changes in average methylation, we observed that the epiallele distribution was profoundly different, gradually shifting toward organized patterns specific to the glial or neuronal cell types. Our findings provide a deep view of gene methylation heterogeneity in brain cell populations promising to furnish innovative ways to unravel mechanisms underlying methylation patterns generation and alteration in brain diseases.

Published
2017
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43. Uncoupling protein 2 G(-866)A polymorphism: a new gene polymorphism associated with C-reactive protein in type 2 diabetic patients C-reactive protein in type 2 diabetic patients

Author

Lapice, Emanuela, primary, Pinelli, Michele, additional, Pisu, Elisabetta, additional, Monticelli, Antonella, additional, Gambino, Roberto, additional, Pagano, Gianfranco, additional, Valsecchi, Silvia, additional, Cocozza, Sergio, additional, Riccardi, Gabriele, additional, and Vaccaro, Olga, additional

Published
2010
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