المؤلفون: Zito, Antonino, Roberts, Amy, Visconti, Alessia, Rossi, Niccolo, Andres Ejarque, Rosa, Nardone, Stefano, El-Sayed Moustafa, Julia, Falchi, Mario, Small, Kerrin

المصدر: Zito , A , Roberts , A , Visconti , A , Rossi , N , Andres Ejarque , R , Nardone , S , El-Sayed Moustafa , J , Falchi , M & Small , K 2023 , ' Escape from X-inactivation in twins exhibits intra- and inter-individual variability across tissues and is heritable ' , PLoS Genetics , vol. 19 , no. 2 , e1010556 . https://doi.org/10.1371/journal.pgen.1010556Test

مصطلحات موضوعية: Humans, Female, X Chromosome Inactivation/genetics, Chromosomes, Human, X/genetics, Genes, X-Linked/genetics, Twins, Monozygotic/genetics, Phenotype

الوصف: X-chromosome inactivation (XCI) silences one X in female cells to balance sex-differences in X-dosage. A subset of X-linked genes escape XCI, but the extent to which this phenomenon occurs and how it varies across tissues and in a population is as yet unclear. To characterize incidence and variability of escape across individuals and tissues, we conducted a transcriptomic study of escape in adipose, skin, lymphoblastoid cell lines and immune cells in 248 healthy individuals exhibiting skewed XCI. We quantify XCI escape from a linear model of genes’ allelic fold-change and XIST-based degree of XCI skewing. We identify 62 genes, including 19 lncRNAs, with previously unknown patterns of escape. We find a range of tissue-specificity, with 11% of genes escaping XCI constitutively across tissues and 23% demonstrating tissue-restricted escape, including cell type-specific escape across immune cells of the same individual. We also detect substantial inter-individual variability in escape. Monozygotic twins share more similar escape than dizygotic twins, indicating that genetic factors may underlie inter-individual differences in escape. However, discordant escape also occurs within monozygotic co-twins, suggesting environmental factors also influence escape. Altogether, these data indicate that XCI escape is an under-appreciated source of transcriptional differences, and an intricate phenotype impacting variable trait expressivity in females.

الإتاحة: https://doi.org/10.1371/journal.pgen.1010556Test
https://kclpure.kcl.ac.uk/portal/en/publications/40f68ba3-48a2-432c-9406-37dbd50c275eTest
http://www.scopus.com/inward/record.url?scp=85148396134&partnerID=8YFLogxKTest

المؤلفون: Bonfiglio, Ferdinando, Zheng, Tenghao, Garcia-Etxebarria, Koldo, Hadizadeh, Fatemeh, Bujanda, Luis, Bresso, Francesca, Agreus, Lars, Andreasson, Anna, Dlugosz, Aldona, Lindberg, Greger, Schmidt, Peter T, Karling, Pontus, Ohlsson, Bodil, Simren, Magnus, Walter, Susanna, Nardone, Gerardo, Cuomo, Rosario, Usai-Satta, Paolo, Galeazzi, Francesca, Neri, Matteo, Portincasa, Piero, Bellini, Massimo, Barbara, Giovanni, Latiano, Anna, Hübenthal, Matthias, Thijs, Vincent, Netea, Mihai G, Jonkers, Daisy, Chang, Lin, Mayer, Emeran A, Wouters, Mira M, Boeckxstaens, Guy, Camilleri, Michael, Franke, Andre, Zhernakova, Alexandra, D'Amato, Mauro

المصدر: Gastroenterology. 155(1)

مصطلحات موضوعية: Genetics, Prevention, Digestive Diseases, Pain Research, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Adult, Aged, Chromosomes, Human, Pair 9, Constipation, Europe, Female, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Genotype, Humans, Irritable Bowel Syndrome, Male, Menarche, Middle Aged, Polymorphism, Single Nucleotide, Self Report, Sex Factors, Sweden, United States, SNP, Biobank Research, Bowel Symptoms, Clinical Sciences, Neurosciences, Paediatrics and Reproductive Medicine, Gastroenterology & Hepatology

الوصف: Background & aimsGenetic factors are believed to affect risk for irritable bowel syndrome (IBS), but there have been no sufficiently powered and adequately sized studies. To identify DNA variants associated with IBS risk, we performed a genome-wide association study (GWAS) of the large UK Biobank population-based cohort, which includes genotype and health data from 500,000 participants.MethodsWe studied 7,287,191 high-quality single nucleotide polymorphisms in individuals who self-reported a doctor's diagnosis of IBS (cases; n = 9576) compared to the remainder of the cohort (controls; n = 336,499) (mean age of study subjects, 40-69 years). Genome-wide significant findings were further investigated in 2045 patients with IBS from tertiary centers and 7955 population controls from Europe and the United States, and a small general population sample from Sweden (n = 249). Functional annotation of GWAS results was carried out by integrating data from multiple biorepositories to obtain biological insights from the observed associations.ResultsWe identified a genome-wide significant association on chromosome 9q31.2 (single nucleotide polymorphism rs10512344; P = 3.57 × 10-8) in a region previously linked to age at menarche, and 13 additional loci of suggestive significance (P < 5.0×10-6). Sex-stratified analyses revealed that the variants at 9q31.2 affect risk of IBS in women only (P = 4.29 × 10-10 in UK Biobank) and also associate with constipation-predominant IBS in women (P = .015 in the tertiary cohort) and harder stools in women (P = .0012 in the population-based sample). Functional annotation of the 9q31.2 locus identified 8 candidate genes, including the elongator complex protein 1 gene (ELP1 or IKBKAP), which is mutated in patients with familial dysautonomia.ConclusionsIn a sufficiently powered GWAS of IBS, we associated variants at the locus 9q31.2 with risk of IBS in women. This observation may provide additional rationale for investigating the role of sex hormones and autonomic dysfunction in IBS.

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/625706n2Test

المؤلفون: Trpchevska, Natalia, Freidin, Maxim B, Broer, Linda, Oosterloo, Berthe C, Yao, Shuyang, Zhou, Yitian, Vona, Barbara, Bishop, Charles, Bizaki-Vallaskangas, Argyro, Canlon, Barbara, Castellana, Fabio, Chasman, Daniel I, Cherny, Stacey, Christensen, Kaare, Concas, Maria Pina, Correa, Adolfo, Elkon, Ran, Mengel-From, Jonas, Gao, Yan, Giersch, Anne B S, Girotto, Giorgia, Gudjonsson, Alexander, Gudnason, Vilmundur, Heard-Costa, Nancy L, Hertzano, Ronna, Hjelmborg, Jacob V B, Hjerling-Leffler, Jens, Hoffman, Howard J, Kaprio, Jaakko, Kettunen, Johannes, Krebs, Kristi, Kähler, Anna K, Lallemend, Francois, Launer, Lenore J, Lee, I-Min, Leonard, Hampton, Li, Chuan-Ming, Lowenheim, Hubert, Magnusson, Patrik K E, van Meurs, Joyce, Milani, Lili, Morton, Cynthia C, Mäkitie, Antti, Nalls, Mike A, Nardone, Giuseppe Giovanni, Nygaard, Marianne, Palviainen, Teemu, Pratt, Sheila, Quaranta, Nicola, Rämö, Joel, Saarentaus, Elmo, Sardone, Rodolfo, Satizabal, Claudia L, Schweinfurth, John M, Seshadri, Sudha, Shiroma, Eric, Shulman, Eldad, Simonsick, Eleanor, Spankovich, Christopher, Tropitzsch, Anke, Lauschke, Volker M, Sullivan, Patrick F, Goedegebure, Andre, Cederroth, Christopher R, Williams, Frances M K, Nagtegaal, Andries Paul

المساهمون: Trpchevska, Natalia, Freidin, Maxim B, Broer, Linda, Oosterloo, Berthe C, Yao, Shuyang, Zhou, Yitian, Vona, Barbara, Bishop, Charle, Bizaki-Vallaskangas, Argyro, Canlon, Barbara, Castellana, Fabio, Chasman, Daniel I, Cherny, Stacey, Christensen, Kaare, Concas, Maria Pina, Correa, Adolfo, Elkon, Ran, Mengel-From, Jona, Gao, Yan, Giersch, Anne B S, Girotto, Giorgia, Gudjonsson, Alexander, Gudnason, Vilmundur, Heard-Costa, Nancy L, Hertzano, Ronna, Hjelmborg, Jacob V B, Hjerling-Leffler, Jen, Hoffman, Howard J, Kaprio, Jaakko, Kettunen, Johanne, Krebs, Kristi, Kähler, Anna K, Lallemend, Francoi, Launer, Lenore J, Lee, I-Min, Leonard, Hampton, Li, Chuan-Ming, Lowenheim, Hubert, Magnusson, Patrik K E, van Meurs, Joyce, Milani, Lili, Morton, Cynthia C, Mäkitie, Antti, Nalls, Mike A, Nardone, Giuseppe Giovanni, Nygaard, Marianne, Palviainen, Teemu, Pratt, Sheila, Quaranta, Nicola, Rämö, Joel, Saarentaus, Elmo, Sardone, Rodolfo, Satizabal, Claudia L, Schweinfurth, John M, Seshadri, Sudha, Shiroma, Eric, Shulman, Eldad, Simonsick, Eleanor, Spankovich, Christopher, Tropitzsch, Anke, Lauschke, Volker M, Sullivan, Patrick F, Goedegebure, Andre, Cederroth, Christopher R, Williams, Frances M K, Nagtegaal, Andries Paul

مصطلحات موضوعية: ARHL, GWAS, basal cell, cochlea, genetic, hair cell, hearing lo, root cell, spindle cell, stria vasculari, Animal, Genome-Wide Association Study, Human, Mice, Deafne, Hearing Loss

الوصف: Hearing loss is one of the top contributors to years lived with disability and is a risk factor for dementia. Molecular evidence on the cellular origins of hearing loss in humans is growing. Here, we performed a genome-wide association meta-analysis of clinically diagnosed and self-reported hearing impairment on 723,266 individuals and identified 48 significant loci, 10 of which are novel. A large proportion of associations comprised missense variants, half of which lie within known familial hearing loss loci. We used single-cell RNA-sequencing data from mouse cochlea and brain and mapped common-variant genomic results to spindle, root, and basal cells from the stria vascularis, a structure in the cochlea necessary for normal hearing. Our findings indicate the importance of the stria vascularis in the mechanism of hearing impairment, providing future paths for developing targets for therapeutic intervention in hearing loss.

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35580588; info:eu-repo/semantics/altIdentifier/wos/WOS:000821957400008; volume:109; issue:6; firstpage:1077; lastpage:1091; numberofpages:15; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11368/3025984Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85131054928; https://www.sciencedirect.com/science/article/pii/S0002929722001586?via=ihubTest; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9247887Test/

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.04.010Test
http://hdl.handle.net/11368/3025984Test
https://www.sciencedirect.com/science/article/pii/S0002929722001586?via=ihubTest
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9247887Test/

المؤلفون: Onali S., Pugliese D., Caprioli F. A., Orlando A., Biancone L., Nardone O. M., Imperatore N., Fiorino G., Cappello M., Viola A., Principi M. B., Bezzio C., Aratari A., Carparelli S., Mazzuoli S., Manguso F., Grossi L., Bodini G., Ribaldone D., Mocci G., Miranda A., Minerba L., Favale A., Grova M., Scucchi L., Segato S., Fries W., Castiglione F., Armuzzi A., Fantini M. C.

المساهمون: Onali S., Pugliese D., Caprioli F.A., Orlando A., Biancone L., Nardone O.M., Imperatore N., Fiorino G., Cappello M., Viola A., Principi M.B., Bezzio C., Aratari A., Carparelli S., Mazzuoli S., Manguso F., Grossi L., Bodini G., Ribaldone D., Mocci G., Miranda A., Minerba L., Favale A., Grova M., Scucchi L., Segato S., Fries W., Castiglione F., Armuzzi A., Fantini M.C.

مصطلحات موضوعية: Human, Remission Induction, Retrospective Studie, Treatment Outcome, Tumor Necrosis Factor Inhibitor, Antibodies, Monoclonal, Humanized, Crohn Disease, Ustekinumab

الوصف: INTRODUCTION: The use of ustekinumab and vedolizumab as second-line therapies in patients with Crohn's disease (CD) in which tumour necrosis factor alpha inhibitors (TNFi) failed is still debated. The aim of this study was to compare, in a large multicenter observational retrospective cohort, the effectiveness of ustekinumab and vedolizumab as second-line therapies, as assessed by clinical and objective outcomes including endoscopy and gastrointestinal imaging. METHODS: Clinical response, remission, and steroid-free remission at weeks 26 and 52 were evaluated in a retrospective propensity score-weighted and propensity score-matched cohort of patients in which TNFi failed. Objective response and remission were evaluated by 1 or more techniques among endoscopy, magnetic resonance/computed tomography enteroclysis, and small bowel ultrasound. RESULTS: A total of 470 patients with CD (239 treated with ustekinumab and 231 treated with vedolizumab) were included in the study. At week 26, clinical outcomes were similar between the 2 groups. At week 52, clinical remission (ustekinumab 42.5% vs vedolizumab 55.5%, P = 0.01) and steroid-free remission (ustekinumab 40.6% vs vedolizumab 51.1%, P = 0.038) rates were significantly higher in vedolizumab-treated patients. Three hundred two patients (hundred thirty-five treated with ustekinumab and hundred sixty-seven treated with vedolizumab) had an objective evaluation of disease activity at baseline and week 52. At week 52, objective response and remission rates were similar between the 2 groups. Clinical response at week 26 predicted steroid-free remission at week 52 in both ustekinumab-treated and vedolizumab-treated patients. Safety profiles were similar between the 2 groups. DISCUSSION: In patients with CD in which TNFi failed, both ustekinumab and vedolizumab showed similar clinical effectiveness after 26 weeks of treatment. At 1 year, vedolizumab was associated with a higher rate of clinical remission when compared with ustekinumab. However, no difference was observed ...

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35467558; info:eu-repo/semantics/altIdentifier/wos/WOS:000835887700023; volume:117; issue:8; firstpage:1279; lastpage:1287; numberofpages:9; journal:THE AMERICAN JOURNAL OF GASTROENTEROLOGY; http://hdl.handle.net/2318/1872619Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85135597946

الإتاحة: https://doi.org/10.14309/ajg.0000000000001773Test
http://hdl.handle.net/2318/1872619Test

المؤلفون: Pacifico, Pietro, Colciago, Riccardo Ray, De Felice, Francesca, Boldrini, Luca, Salvestrini, Viola, Nardone, Valerio, Desideri, Isacco, Greco, Carlo, Arcangeli, Stefano

المساهمون: Pacifico, Pietro, Colciago, Riccardo Ray, De Felice, Francesca, Boldrini, Luca, Salvestrini, Viola, Nardone, Valerio, Desideri, Isacco, Greco, Carlo, Arcangeli, Stefano

مصطلحات موضوعية: oligometastasi, oligometastatic disease, prognostic factor, stereotactic body radiation therapy, consensu, human, prognosi, radiation oncologist, neoplasm, radiosurgery

الوصف: Since the first definition by Hellman and Weichselbaum in 1995, the concept of OligoMetastatic Disease (OMD) is a growing oncology field. It was hypothesized that OMD is a clinical temporal window between localized primary tumor and widespread metastases deserving of potentially curative treatment. In real-world clinical practice, OMD is a "spectrum of disease" that includes a highly heterogeneous population of patients with different prognosis. Metastasis directed therapy with local ablative treatment have proved to be a valid alternative to surgical approach. Stereotactic body radiation therapy demonstrated high local control rate and increased survival outcomes in this setting with a low rate of toxicity. However, there is a lack of consensus regarding many clinical, therapeutic, and prognostic aspects of this disease entity. In this review, we try to summarize the major critical features that could drive radiation oncologists toward a better selection of patients, treatments, and study endpoints. With the help of a set of practical questions, we aim to integrate the literature discussion.

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36071292; info:eu-repo/semantics/altIdentifier/wos/WOS:000850846400014; volume:39; issue:12; numberofpages:11; journal:MEDICAL ONCOLOGY; https://hdl.handle.net/11573/1657474Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85137534179

الإتاحة: https://doi.org/10.1007/s12032-022-01788-8Test
https://hdl.handle.net/11573/1657474Test

المؤلفون: Iori, Federico, Bruni, Alessio, Cozzi, Salvatore, Ciammella, Patrizia, Di Pressa, Francesca, Boldrini, Luca, Greco, Carlo, Nardone, Valerio, Salvestrini, Viola, Desideri, Isacco, De Felice, Francesca, Iotti, Cinzia

المساهمون: Iori, Federico, Bruni, Alessio, Cozzi, Salvatore, Ciammella, Patrizia, Di Pressa, Francesca, Boldrini, Luca, Greco, Carlo, Nardone, Valerio, Salvestrini, Viola, Desideri, Isacco, De Felice, Francesca, Iotti, Cinzia

مصطلحات موضوعية: abscopal effect, cold tumor, combination therapy, host immune system, immune escape, radioimmunotherapy, radiomodulation, radiotherapy, tumor microenvironment, tumor mutational burden, Human, Immune System, Immunologic Factor, Immunotherapy, Neoplasm

الوصف: Despite the rising evidence in favor of immunotherapy (IT), the treatment of oncological patients affected by so-called "cold tumors" still represents an open issue. Cold tumors are characterized by an immunosuppressive (so-called cold) tumor microenvironment (TME), which favors host immune system suppression, cancer immune-escape, and a worse response to IT. However, the TME is not a static element, but dynamically mutates and can be changed. Radiotherapy (RT) can modulate a cold microenvironment, rendering it better at tumor killing by priming the quiescent host immune system, with a consequent increase in immunotherapy response. The combination of TME radiomodulation and IT could therefore be a strategy for those patients affected by cold tumors, with limited or no response to IT. Thus, this review aims to provide an easy, rapid, and practical overview of how RT could convert the cold TME and why cold tumor radiomodulation could represent an interesting strategy in combination with IT.

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35877226; info:eu-repo/semantics/altIdentifier/wos/WOS:000831886100001; volume:29; issue:7; firstpage:4612; lastpage:4624; numberofpages:13; journal:CURRENT ONCOLOGY; https://hdl.handle.net/11573/1657476Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85133538358

الإتاحة: https://doi.org/10.3390/curroncol29070366Test
https://hdl.handle.net/11573/1657476Test

المؤلفون: Mele, Chiara, Caputo, Marina, Ferrero, Alice, Daffara, Tommaso, Cavigiolo, Beatrice, Spadaccini, Daniele, Nardone, Antonio, Prodam, Flavia, Aimaretti, Gianluca, Marzullo, Paolo

المساهمون: Mele, Chiara, Caputo, Marina, Ferrero, Alice, Daffara, Tommaso, Cavigiolo, Beatrice, Spadaccini, Daniele, Nardone, Antonio, Prodam, Flavia, Aimaretti, Gianluca, Marzullo, Paolo

مصطلحات موضوعية: bariatric surgery, bone lo, bone mineral density, bone turnover, fracture risk, rehabilitation, Absorptiometry, Photon, Bone Density, Human, Obesity, Weight Lo, Fractures, Bone

الوصف: Obesity is a global health challenge that warrants effective treatments to avoid its multiple comorbidities. Bariatric surgery, a cornerstone treatment to control bodyweight excess and relieve the health-related burdens of obesity, can promote accelerated bone loss and affect skeletal strength, particularly after malabsorptive and mixed surgical procedures, and probably after restrictive surgeries. The increase in bone resorption markers occurs early and persist for up to 12 months or longer after bariatric surgery, while bone formation markers increase but to a lesser extent, suggesting a potential uncoupling process between resorption and formation. The skeletal response to bariatric surgery, as investigated by dual-energy X-ray absorptiometry (DXA), has shown significant loss in bone mineral density (BMD) at the hip with less consistent results for the lumbar spine. Supporting DXA studies, analyses by high-resolution peripheral quantitative computed tomography (HR-pQCT) showed lower cortical density and thickness, higher cortical porosity, and lower trabecular density and number for up to 5 years after bariatric surgery. These alterations translate into an increased risk of fall injury, which contributes to increase the fracture risk in patients who have been subjected to bariatric surgery procedures. As bone deterioration continues for years following bariatric surgery, the fracture risk does not seem to be dependent on acute weight loss but, rather, is a chronic condition with an increasing impact over time. Among the post-bariatric surgery mechanisms that have been claimed to act globally on bone health, there is evidence that micro- and macro-nutrient malabsorptive factors, mechanical unloading and changes in molecules partaking in the crosstalk between adipose tissue, bone and muscle may play a determining role. Given these circumstances, it is conceivable that bone health should be adequately investigated in candidates to bariatric surgery through bone-specific work-up and dedicated postsurgical ...

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35873004; info:eu-repo/semantics/altIdentifier/wos/WOS:000829712000001; volume:13; journal:FRONTIERS IN ENDOCRINOLOGY; https://hdl.handle.net/11579/145862Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85134503879

الإتاحة: https://doi.org/10.3389/fendo.2022.921353Test
https://hdl.handle.net/11579/145862Test

المؤلفون: Mele C., Pagano L., Franciotta D., Caputo M., Nardone A., Aimaretti G., Marzullo P., Pingue V.

المساهمون: Mele, C., Pagano, L., Franciotta, D., Caputo, M., Nardone, A., Aimaretti, G., Marzullo, P., Pingue, V.

مصطلحات موضوعية: Epilepsy, Outcome, Thyroid, Traumatic brain injury, Brain, Female, Human, Italy, Male, Middle Aged, Neuroimaging, Neurologic Examination, Predictive Value of Test, Prognosi, Risk Assessment, Thyroid Function Test, Thyroid Gland, Trauma Severity Indice, Triiodothyronine, Brain Injuries, Traumatic, Post-Traumatic, Recovery of Function

الوصف: Purpose: That thyroid hormones exert pleiotropic effects and have a contributory role in triggering seizures in patients with traumatic brain injury (TBI) can be hypothesized. We aimed at investigating thyroid function tests as prognostic factors of the development of seizures and of functional outcome in TBI. Methods: This retrospective study enrolled 243 adult patients with a diagnosis of mild-to-severe TBI, consecutively admitted to our rehabilitation unit for a 6-month neurorehabilitation program. Data on occurrence of seizures, brain imaging, injury characteristics, associated neurosurgical procedures, neurologic and functional assessments, and death during hospitalization were collected at baseline, during the workup and on discharge. Thyroid function tests (serum TSH, fT4, and fT3 levels) were performed upon admission to neurorehabilitation. Results: Serum fT3 levels were positively associated with an increased risk of late post-traumatic seizures (LPTS) in post-TBI patients independent of age, sex and TBI severity (OR = 1.85, CI 95% 1.22–2.61, p < 0.01). Measured at admission, fT3 values higher than 2.76 pg/mL discriminated patients with late post-traumatic seizures from those without, with a sensitivity of 74.2% and a specificity of 60.9%. Independently from the presence of post-traumatic epilepsy and TBI severity, increasing TSH levels and decreasing fT3 levels were associated with worse neurological and functional outcome, as well as with higher risk of mortality within 6 months from the TBI event. Conclusions: Serum fT3 levels assessed in the subacute phase post-TBI are associated with neurological and functional outcome as well as with the risk of seizure occurrence. Further studies are needed to investigate the mechanisms underlying these associations.

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34351610; info:eu-repo/semantics/altIdentifier/wos/WOS:000681570500001; volume:45; issue:2; firstpage:379; lastpage:389; numberofpages:11; journal:JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION; http://hdl.handle.net/11579/138132Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85111880594

الإتاحة: https://doi.org/10.1007/s40618-021-01656-8Test
http://hdl.handle.net/11579/138132Test

المؤلفون: Turco, Elisa Maria, Giovenale, Angela Maria Giada, Sireno, Laura, Mazzoni, Martina, Cammareri, Alessandra, Marchioretti, Caterina, Goracci, Laura, Di Veroli, Alessandra, Marchesan, Elena, D'Andrea, Daniel, Falconieri, Antonella, Torres, Barbara, Bernardini, Laura, Magnifico, Maria Chiara, Paone, Alessio, Rinaldo, Serena, Della Monica, Matteo, D'Arrigo, Stefano, Postorivo, Diana, Nardone, Anna Maria, Zampino, Giuseppe, Onesimo, Roberta, Leoni, Chiara, Caicci, Federico, Raimondo, Domenico, Binda, Elena, Trobiani, Laura, De Jaco, Antonella, Tata, Ada Maria, Ferrari, Daniela, Cutruzzolà, Francesca, Mazzoccoli, Gianluigi, Ziviani, Elena, Pennuto, Maria, Vescovi, Angelo Luigi, Rosati, Jessica

المساهمون: Turco, Elisa Maria, Giovenale, Angela Maria Giada, Sireno, Laura, Mazzoni, Martina, Cammareri, Alessandra, Marchioretti, Caterina, Goracci, Laura, Di Veroli, Alessandra, Marchesan, Elena, D'Andrea, Daniel, Falconieri, Antonella, Torres, Barbara, Bernardini, Laura, Magnifico, Maria Chiara, Paone, Alessio, Rinaldo, Serena, Della Monica, Matteo, D'Arrigo, Stefano, Postorivo, Diana, Nardone, Anna Maria, Zampino, Giuseppe, Onesimo, Roberta, Leoni, Chiara, Caicci, Federico, Raimondo, Domenico, Binda, Elena, Trobiani, Laura, De Jaco, Antonella, Tata, Ada Maria, Ferrari, Daniela, Cutruzzolà, Francesca, Mazzoccoli, Gianluigi, Ziviani, Elena, Pennuto, Maria, Vescovi, Angelo Luigi, Rosati, Jessica

مصطلحات موضوعية: Human, Haploinsufficiency, Lipid Metabolism, Transcription Factor, Trans-Activator, Phenotype, Autophagy, Tretinoin, Lipid, Smith-Magenis Syndrome

الوصف: Smith-Magenis syndrome (SMS) is a neurodevelopmental disorder characterized by cognitive and behavioral symptoms, obesity, and sleep disturbance, and no therapy has been developed to alleviate its symptoms or delay disease onset. SMS occurs due to haploinsufficiency of the retinoic acid-induced-1 (RAI1) gene caused by either chromosomal deletion (SMS-del) or RAI1 missense/nonsense mutation. The molecular mechanisms underlying SMS are unknown. Here, we generated and characterized primary cells derived from four SMS patients (two with SMS-del and two carrying RAI1 point mutations) and four control subjects to investigate the pathogenetic processes underlying SMS. By combining transcriptomic and lipidomic analyses, we found altered expression of lipid and lysosomal genes, deregulation of lipid metabolism, accumulation of lipid droplets, and blocked autophagic flux. We also found that SMS cells exhibited increased cell death associated with the mitochondrial pathology and the production of reactive oxygen species. Treatment with N-acetylcysteine reduced cell death and lipid accumulation, which suggests a causative link between metabolic dyshomeostasis and cell viability. Our results highlight the pathological processes in human SMS cells involving lipid metabolism, autophagy defects and mitochondrial dysfunction and suggest new potential therapeutic targets for patient treatment.

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36411275; info:eu-repo/semantics/altIdentifier/wos/WOS:000886207500001; volume:13; issue:11; firstpage:981; journal:CELL DEATH & DISEASE; https://hdl.handle.net/11577/3462265Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85142392229

الإتاحة: https://doi.org/10.1038/s41419-022-05410-7Test
https://hdl.handle.net/11577/3462265Test

المؤلفون: Rossi, Giovanni Battista, Cannata, Andrea, Iengo, Antonio, Migliaccio, Maurizio, Nardone, Gabriele, Piscopo, Vincenzo, Zambianchi, Enrico

المساهمون: Rossi, Giovanni Battista, Cannata, Andrea, Iengo, Antonio, Migliaccio, Maurizio, Nardone, Gabriele, Piscopo, Vincenzo, Zambianchi, Enrico

مصطلحات موضوعية: coastal radar, dynamic measurement, microseism observation, networks for sea waves monitoring, satellite remote sensing, sea state measurement, shipboard sea state observation, wave buoy, Human, Environmental Monitoring, Meteorology

الوصف: Sea waves constitute a natural phenomenon with a great impact on human activities, and their monitoring is essential for meteorology, coastal safety, navigation, and renewable energy from the sea. Therefore, the main measurement techniques for their monitoring are here reviewed, including buoys, satellite observation, coastal radars, shipboard observation, and microseism analysis. For each technique, the measurement principle is briefly recalled, the degree of development is outlined, and trends are prospected. The complementarity of such techniques is also highlighted, and the need for further integration in local and global networks is stressed.

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35009617; info:eu-repo/semantics/altIdentifier/wos/WOS:000748207500001; volume:22; firstpage:1; lastpage:36; numberofpages:36; journal:SENSORS; https://hdl.handle.net/11567/1098043Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85121513512

الإتاحة: https://doi.org/10.3390/s22010078Test
https://hdl.handle.net/11567/1098043Test