Claudia Fuchs

The roadmap for the development of the Human Variome - Development of functional multi-omics analyses for the understanding of human biology

Biruté Tumiene, David R. Adams, Robert J. Allaway, María J. Barrero et autres

The human variome encompasses the full spectrum of genetic variation underlying human biology, health, and disease. Recent advances in next-generation sequencing and multi-omics, including genomics, epigenomics, transcriptomics, proteomics, and metabolomics, have enabled unprecedented insights into the functional elements of the genome and …

lt, us, es, cl, fr, sg, au, il, Afrique du Sud (code pays fourni par la source)

The roadmap for the development of the Human Variome - Development of functional multi-omics analyses for the understanding of human biology

Biruté Tumiene, David R. Adams, Robert J. Allaway, María J. Barrero et autres

The human variome encompasses the full spectrum of genetic variation underlying human biology, health, and disease. Recent advances in next-generation sequencing and multi-omics, including genomics, epigenomics, transcriptomics, proteomics, and metabolomics, have enabled unprecedented insights into the functional elements of the genome and …

lt, us, es, cl, fr, sg, au, il, Afrique du Sud (code pays fourni par la source)

Translating multi-omics into healthcare: requisites for scalable and equitable implementation

Biruté Tumiene, David R. Adams, Robert J. Allaway, María J. Barrero et autres

Multi-omics in combination with advanced computational methodologies synthesizes diverse omics data to provide deeper insights into molecular interactions and offers transformative potential for unravelling phenomenon behind disease complexities, improving diagnostics, disease prevention, and personalized treatments. This integrative strategy enables our understanding of …

lt, us, es, cl, fr, sg, au, am, in, Afrique du Sud (code pays fourni par la source)

PCR100 From Pain to Patient Preferences Patient Engagement in Early HTA for Repurposing Losartan in Osteogenesis Imperfecta

Dalma Hosszú, Eve Hewitt, Zsuzsa Reka Pozsar, Claudia Fuchs et autres

hu, us, fr, gb (code pays fourni par la source)

Drug Repurposing in Pancreatic Cancer: A Multi-Stakeholder Perspective to Improve Treatment Options for Pancreatic Cancer Patients

Gauthier Bouche, Alexandre Alencar, Stephen Bigelsen, Raluca Nicoleta Radu et autres

Abstract: Pancreatic cancer (PC) remains one of the most challenging malignancies to treat. Current therapeutic options are unsatisfactory, and there is an urgent need for more effective and less toxic drugs to improve the dismal prognosis of PC. In recent years, drug …

gb, be, ch, us, nl, es, it, fr (code pays fourni par la source)

Randomized phase 2 study of valproic acid combined with simvastatin and gemcitabine/nab-paclitaxel-based regimens in untreated metastatic pancreatic adenocarcinoma patients: the VESPA trial study protocol

Alfredo Budillon, Alessandra Leone, Eugenia Passaro, Lucrezia Silvestro et autres

BACKGROUND: Metastatic pancreatic ductal adenocarcinoma (mPDAC) patients have very poor prognosis highlighting the urgent need of novel treatments. In this regard, repurposing non-oncology already-approved drugs might be an attractive strategy to offer more-effective treatment easily tested in clinical trials. Accumulating evidence suggests …

it, es, fr, us (code pays fourni par la source)

Drug repurposing in Rett and Rett-like syndromes: a promising yet underrated opportunity?

Claudia Fuchs, Peter A.C. ’t Hoen, Annelieke R. Müller, Friederike Ehrhart et autres

Rett syndrome (RTT) and Rett-like syndromes [i.e., CDKL5 deficiency disorder (CDD) and FOXG1-syndrome] represent rare yet profoundly impactful neurodevelopmental disorders (NDDs). The severity and complexity of symptoms associated with these disorders, including cognitive impairment, motor dysfunction, seizures and other neurological features significantly …

fr, nl (code pays fourni par la source)

The PNPLA3 I148M variant initiates metabolic reprogramming in macrophages

Emmanuel Dauda Dixon, Thierry Claudel, Jakob‐Wendelin Genger, Ci Zhu et autres

Treatment with FRAX486 rescues neurobehavioral and metabolic alterations in a female mouse model of CDKL5 deficiency disorder

Claudia Fuchs, Livia Cosentino, Chiara Urbinati, Maria Cristina Talamo et autres

INTRODUCTION: CDKL5 deficiency disorder (CDD) is a rare neurodevelopmental condition, primarily affecting girls for which no cure currently exists. Neuronal morphogenesis and plasticity impairments as well as metabolic dysfunctions occur in CDD patients. The present study explored the potential therapeutic value for …

it (code pays fourni par la source)

Inhibition of microglia overactivation restores neuronal survival in a mouse model of CDKL5 deficiency disorder

Giuseppe Galvani, Nicola Mottolese, Laura Gennaccaro, Manuela Loi et autres

BACKGROUND: CDKL5 deficiency disorder (CDD), a severe neurodevelopmental disorder characterized by early onset epilepsy, intellectual disability, and autistic features, is caused by mutations in the CDKL5 gene. Evidence in animal models of CDD showed that absence of CDKL5 negatively affects neuronal survival, …

it (code pays fourni par la source)

Treatment with a GSK-3β/HDAC Dual Inhibitor Restores Neuronal Survival and Maturation in an In Vitro and In Vivo Model of CDKL5 Deficiency Disorder

Manuela Loi, Laura Gennaccaro, Claudia Fuchs, Stefania Trazzi et autres

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene cause a rare neurodevelopmental disorder characterized by early-onset seizures and severe cognitive, motor, and visual impairments. To date there are no therapies for CDKL5 deficiency disorder (CDD). In view of the severity of …

it (code pays fourni par la source)

A GABAB receptor antagonist rescues functional and structural impairments in the perirhinal cortex of a mouse model of CDKL5 deficiency disorder

Laura Gennaccaro, Claudia Fuchs, Manuela Loi, Vincenzo Roncacè et autres

CDKL5 (cyclin-dependent kinase-like 5) deficiency disorder (CDD) is a severe neurodevelopmental encephalopathy characterized by early-onset epilepsy and intellectual disability. Studies in mouse models have linked CDKL5 deficiency to defects in neuronal maturation and synaptic plasticity, and disruption of the excitatory/inhibitory balance. Interestingly, …

it (code pays fourni par la source)