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323 results on '"Giorda R"'

1. Maternal and infant NR3C1 and SLC6A4 epigenetic signatures of the COVID-19 pandemic lockdown: when timing matters

Author

Nazzari, S, Grumi, S, Mambretti, F, Villa, M, Giorda, R, Provenzi, L, Borgatti, R, Biasucci, G, Decembrino, L, Giacchero, R, Magnani, Ml, Nacinovich, R, Prefumo, F, Spinillo, A, Veggiotti, P, Nazzari, S, Grumi, S, Mambretti, F, Villa, M, Giorda, R, Provenzi, L, Borgatti, R, Biasucci, G, Decembrino, L, Giacchero, R, Magnani, M, Nacinovich, R, Prefumo, F, Spinillo, A, and Veggiotti, P

Subjects
Serotonin Plasma Membrane Transport Proteins, Pandemic, Mouth Mucosa, Infant, COVID-19, Epigenesis, Genetic, Cellular and Molecular Neuroscience, Psychiatry and Mental health, Receptors, Glucocorticoid, Pregnancy, MED/39 - NEUROPSICHIATRIA INFANTILE, Quarantine, Communicable Disease Control, Humans, Female, Child, Pandemics, Biological Psychiatry, Human
Abstract

Stress exposure during pregnancy is critically linked with maternal mental health and child development. The effects might involve altered patterns of DNA methylation in specific stress-related genes (i.e., glucocorticoid receptor gene, NR3C1, and serotonin transporter gene, SLC6A4) and might be moderated by the gestational timing of stress exposure. In this study, we report on NR3C1 and SLC6A4 methylation status in Italian mothers and infants who were exposed to the COVID-19 pandemic lockdown during different trimesters of pregnancy. From May 2020 to February 2021, 283 mother–infant dyads were enrolled at delivery. Within 24 h from delivery, buccal cells were collected to assess NR3C1 (44 CpG sites) and SLC6A4 (13 CpG sites) methylation status. Principal component (PC) analyses were used to reduce methylation data dimension to one PC per maternal and infant gene methylation. Mother–infant dyads were split into three groups based on the pregnancy trimester (first, second, third), during which they were exposed to the COVID-19 lockdown. Mothers and infants who were exposed to the lockdown during the first trimester of pregnancy had lower NR3C1 and SLC6A4 methylation when compared to counterparts exposed during the second or third trimesters. The effect remained significant after controlling for confounders. Women who were pregnant during the pandemic and their infants might present altered epigenetic biomarkers of stress-related genes. As these epigenetic marks have been previously linked with a heightened risk of maternal psychiatric problems and less-than-optimal child development, mothers and infants should be adequately monitored for psychological health during and after the pandemic.

Published
2022

4. Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation

Author

Weisschuh, N. Sturm, M. Baumann, B. Audo, I. Ayuso, C. Bocquet, B. Branham, K. Brooks, B.P. Catalá-Mora, J. Giorda, R. Heckenlively, J.R. Hufnagel, R.B. Jacobson, S.G. Kellner, U. Kitsiou-Tzeli, S. Matet, A. Martorell Sampol, L. Meunier, I. Rudolph, G. Sharon, D. Stingl, K. Streubel, B. Varsányi, B. Wissinger, B. Kohl, S.

Abstract

Our comprehensive cohort of 1100 unrelated achromatopsia (ACHM) patients comprises a considerable number of cases (~5%) harboring only a single pathogenic variant in the major ACHM gene CNGB3. We sequenced the entire CNGB3 locus in 33 of these patients to find a second variant which eventually explained the patients’ phenotype. Forty-seven intronic CNGB3 variants were identified in 28 subjects after a filtering step based on frequency and the exclusion of variants found in cis with pathogenic alleles. In a second step, in silico prediction tools were used to filter out those variants with little odds of being deleterious. This left three variants that were analyzed using heterologous splicing assays. Variant c.1663–1205G>A, found in 14 subjects, and variant c.1663-2137C>T, found in two subjects, were indeed shown to exert a splicing defect by causing pseudoexon insertion into the transcript. Subsequent screening of further unsolved CNGB3 subjects identified four additional cases harboring the c.1663–1205G>A variant which makes it the eighth most frequent CNGB3 variant in our cohort. Compound heterozygosity could be validated in ten cases. Our study demonstrates that whole gene sequencing can be a powerful approach to identify the second pathogenic allele in patients apparently harboring only one disease-causing variant. © 2019 Wiley Periodicals, Inc.

Published
2020

22. Definition of the neurological phenotype associated with dup (X)(p11.22-p11.23) syndrome

Author

TINUPER, PAOLO, BISULLI, FRANCESCA, CEVOLANI, DANIELA, GALLASSI, ROBERTO, SERI, MARCO, Broli, M, Mastrangelo, M, Fontana, E, Fiocchi, I, Zucca, C, Bonaglia, Mc, Reitano, S, Corrado, R, Agati, R, Bernardi, B, Magini, P, Oppi, F, Poda, R, Giorda, R, Zuffardi, O, Dalla Bernardina, B., Tinuper, P, Broli, M, Bisulli, F, Mastrangelo, M, Fontana, E, Fiocchi, I, Zucca, C, Bonaglia, Mc, Reitano, S, Corrado, R, Agati, R, Bernardi, B, Cevolani, D, Gallassi, R, Magini, P, Oppi, F, Poda, R, Giorda, R, Zuffardi, O, Dalla Bernardina, B., and Seri, M

Subjects
mental retardation, speech impairment, Xp11.22-11.23
Published
2011

31. The italian preadolescent mental health projetc (prisma): rationale and methods

Author

Frigerio, A, Vanzin, L, Pastore, V, Nobile, M, Giorda, R, Marino, C, Molteni, M, Rucci, P, Ammaniti, M, Lucarelli, L, Lenti, C, Walder, M, Martinuzzi, A, Carlet, O, Muratori, Filippo, Milone, A, Zuddas, A, Cavolina, P, Nardocci, F, Tullini, A, Morosini, P, Polidori, G, and DE GIROLAMO, G.

Published
2006

39. Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability

Author

Pagnamenta, A. T., primary, Khan, H., additional, Walker, S., additional, Gerrelli, D., additional, Wing, K., additional, Bonaglia, M. C., additional, Giorda, R., additional, Berney, T., additional, Mani, E., additional, Molteni, M., additional, Pinto, D., additional, Le Couteur, A., additional, Hallmayer, J., additional, Sutcliffe, J. S., additional, Szatmari, P., additional, Paterson, A. D., additional, Scherer, S. W., additional, Vieland, V. J., additional, and Monaco, A. P., additional

Published
2010
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47. Effect of the serotonin transporter gene and of environment on the continuity of anxiety and depression traits throughout adolescence

Author

Nobile, M., Greco, A., Perna, G., Colombo, P., Bianchi, V., Bellina, M., Giorda, R., Monzani, D., Carlet, O., Griez, E., and Molteni, M.

Abstract

Aims.Many studies of various stress reactive phenotypes suggest that 5-HTTLPR short allele carriers (S-carriers) are characterised by the stable trait of negative affectivity that is converted to psychopathology only under conditions of stress. In this study, we examined the moderating role of the 5-HTTLPR on the relationship between two objective chronic risk factors, i.e. socioeconomic status (SES) and family structure, and internalising symptoms across adolescence.Methods.A multigroup path analysis was employed in a general adolescent population sample of a 5-year follow-up study.Results.Internalising problems were significantly more stable in the S-carriers. The focus on the main dimensions of internalising problems, i.e. anxiety and depression, revealed two different developmental patterns. In the S-carriers Anxiety problems seemed to be more stable and to predict a possible evolution towards the development of Depressive problems. In the long allele homozygotes (LL-subjects) the anxiety trait was significantly less stable, and, in late-adolescence, seemed to be significantly predicted by SES, suggesting a possible gene–environment interaction (G × E). Family structure seemed to play a role in a G × E perspective only until early-adolescence, while during late-adolescence SES seemed to play a pivotal role in interaction with 5-HTTLPR, with the S-allele playing a protective role.Conclusions.Future models of the developmental link between environmental adversities and internalising behaviour therefore need to consider that the effect of G × E interaction, may be associated with internalising behaviour via different mechanisms during different time frames and that shifts in the strength of this effect should be expected across development.

Published
2014
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