799 results match your criteria: "Institute of functional Genomics[Affiliation]"

A Risk Score to Identify Low Bone Mineral Density for Age in Young Patients with Anorexia Nervosa.

Nutrients

December 2024

Department of Emergency and Post-Emergency Psychiatry, CHU Montpellier, INSERM, University of Montpellier, 34295 Montpellier, France.

Objective: Developing a scoring assessment tools for the determination of low bone mass for age at lumbar spine and hip in patients with anorexia nervosa (AN).

Methods: The areal bone mineral density (aBMD) was determined with dual-energy X-ray absorptiometry (DXA). In 331 women with AN and 121 controls, aged from 14.

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Arterial NALCN Knock-Down Ameliorates Mineralocorticoid-Induced Hypertension and Arterial Over-Contractility.

Circ Res

January 2025

Department of Physiology, Institute of Functional Genomics and Research Institute of Medical Science, Konkuk University School of Medicine, Chungju, Republic of Korea (H.L., S.P., J.R.A., M.S.S., H.J.N., B.K., Y.M.B.).

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Neuroplasticity in Diffuse Low-grade Gliomas: Backward Modelling of Brain-tumor Interactions Prior to Diagnosis is Needed to Better Predict Recovery after Treatment.

Curr Neurol Neurosci Rep

January 2025

Department of Neurosurgery, Gui de Chauliac Hospital, Montpellier University Medical Center, 80 Avenue Augustin Fliche, Montpellier, 34295, France.

Purpose Of Review: In low-grade glioma (LGG), besides the patient's neurological status and tumor characteristics on neuroimaging, current treatment guidelines mainly rely on the glioma's genetics at diagnosis to define therapeutic strategy, usually starting with surgical resection. However, this snapshot in time does not take into account the antecedent period of tumor progression and its interactions with the brain before presentation. This article reviews new concepts that pertain to reconstruct the history of previous interplay between the LGG's course and adaptive changes in the connectome within which the glioma is embedded over the years preceding the diagnosis.

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The clinical efficacy of isocitrate dehydrogenase (IDH) inhibitors in the treatment of patients with grade 2 IDH-mutant (mIDH) gliomas is a significant therapeutic advancement in neuro-oncology. It expands treatment options beyond traditional radiation therapy and cytotoxic chemotherapy, which may lead to significant long-term neurotoxic effects while extending patient survival. The INDIGO study demonstrated that vorasidenib, a pan-mIDH inhibitor, improved progression-free survival for patients with grade 2 mIDH gliomas following surgical resection or biopsy compared to placebo and was well tolerated.

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Genetic studies of the metabolome can uncover enzymatic and transport processes shaping human metabolism. Using rare variant aggregation testing based on whole-exome sequencing data to detect genes associated with levels of 1,294 plasma and 1,396 urine metabolites, we discovered 235 gene-metabolite associations, many previously unreported. Complementary approaches (genetic, computational (in silico gene knockouts in whole-body models of human metabolism) and one experimental proof of principle) provided orthogonal evidence that studies of rare, damaging variants in the heterozygous state permit inferences concordant with those from inborn errors of metabolism.

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Background: Medulloblastoma (MB) is one of the most prevalent embryonal malignant brain tumors. Current classification organizes these tumors into four molecular subgroups (WNT, SHH, Group 3, and Group 4 MB). Recently, a comprehensive classification has been established, identifying numerous subtypes, some of which exhibit a poor prognosis.

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The satiety hormone cholecystokinin gates reproduction in fish by controlling gonadotropin secretion.

Elife

December 2024

Department of Animal Sciences, The Robert H. Smith Faculty of Agriculture, Food, and Environment, Hebrew University of Jerusalem, Rehovot, Israel.

Life histories of oviparous species dictate high metabolic investment in the process of gonadal development leading to ovulation. In vertebrates, these two distinct processes are controlled by the gonadotropins follicle-stimulating hormone (FSH) and luteinizing hormone (LH), respectively. While it was suggested that a common secretagogue, gonadotropin-releasing hormone (GnRH), oversees both functions, the generation of loss-of-function fish challenged this view.

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Epidemiological analysis of adult-type diffuse lower-grade gliomas and incidence and prevalence estimates of diffuse IDH-mutant gliomas in France.

Neurochirurgie

December 2024

Institute of Functional Genomics, Montpellier University, CNRS, INSERM, Montpellier, France; French Brain Tumor DataBase (Recensement national histologique des Tumeurs Primitives du SNC), CHU/ICM Montpellier, Montpellier, France; Department of Medical Oncology, Institut régional du Cancer de Montpellier (ICM), University of Montpellier, Montpellier, France.

Background: The recent advent of anti-IDH therapies and changes in the WHO classification of gliomas implies estimating the number of patients who could benefit (or not) from anti-IDH treatment. As published data on the current incidence of different subtypes of IDH-mutant gliomas (based on the latest histomolecular WHO classification) are lacking in many countries. The present analysis aims to review the main factors impacting the incidence of gliomas and lower-grade gliomas and to estimate the incidence and prevalence of IDH-mutant gliomas in France.

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The CRISPR/Cas technology of targeted genome editing made it possible to carry out genetic engineering manipulations with eukaryotic genomes with a high efficiency. Targeted induction of site-specific DNA breaks is one of the key stages of the technology. The cell repairs the breaks via one of the two pathways, nonhomologous end joining (NHEJ) and homology-driven repair (HDR).

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[Current Knowledge of Base Editing and Prime Editing].

Mol Biol (Mosk)

December 2024

Institute of Functional Genomics, Moscow State University, Moscow, 119991 Russia.

Article Synopsis
  • Modern genetic engineering tools like base editing and prime editing offer efficient genome editing without needing donor templates or causing double-strand breaks in DNA.
  • These techniques are praised for their accuracy, ease of use, and ability to edit multiple genes simultaneously.
  • The review covers their design, creation methods, pros and cons, and potential applications in research areas like biology, biotechnology, medicine, and agriculture.
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Bursts of brain erosion: seizures and age-dependent neurological vulnerability.

Trends Mol Med

December 2024

Institute of Functional Genomics, University of Montpellier, CNRS, INSERM, Montpellier, France. Electronic address:

Hypersynchronous and exaggerated neuronal firing, exemplified by epileptiform activity and seizures, are disruptors of brain function across acute and chronic neuropathological conditions. Here, we focus on how seizure activity, whether as a primary symptom or a secondary comorbid event within a complex pathological setting, adversely impacts neurological trajectories. We discuss experimental and clinical evidence illustrating the participation of neurodegenerative and senescence-like adaptations.

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From sampling to simulating: Single-cell multiomics in systems pathophysiological modeling.

iScience

December 2024

Daniel Baugh Institute of Functional Genomics/Computational Biology, Department of Pathology and Genomic Medicine, Thomas Jefferson University, Philadelphia, PA, USA.

As single-cell omics data sampling and acquisition methods have accumulated at an unprecedented rate, various data analysis pipelines have been developed for the inference of cell types, cell states and their distribution, state transitions, state trajectories, and state interactions. This presents a new opportunity in which single-cell omics data can be utilized to generate high-resolution, high-fidelity computational models. In this review, we discuss how single-cell omics data can be used to build computational models to simulate biological systems at various scales.

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The Drosophila neuromuscular junction (NMJ) is a powerful genetic system that has revealed numerous conserved mechanisms for synapse development and homeostasis. The fly NMJ uses glutamate as the excitatory neurotransmitter and relies on kainate-type glutamate receptors and their auxiliary protein Neto for synapse assembly and function. However, despite decades of study, the reconstitution of NMJ glutamate receptors using heterologous systems has been achieved only recently, and there are no reports on the gating properties for the recombinant receptors.

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Despite recent treatment advances, non-small cell lung cancer (NSCLC) remains one of the leading causes of cancer-related deaths worldwide, and therefore it necessitates the exploration of new therapy options. One commonly shared feature of malignant cells is their ability to hijack metabolic pathways to confer survival or proliferation. In this study, we highlight the importance of the polyol pathway (PP) in NSCLC metabolism.

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Cognition is essential for daily activities and progressively deteriorates with age due to various factors leading to cognitive decline. This decline often begins with memory impairment and advances to broader cognitive dysfunctions. Resveratrol (RES), a natural phenolic compound found in red wine, has garnered significant attention for its potential to prevent cognitive decline.

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Functional and oncological outcomes following more than three consecutive surgical resections for multiple relapses of initially grade 2 IDH-mutated gliomas.

Acta Neurochir (Wien)

October 2024

Department of Neurosurgery, Gui de Chauliac Hospital, Montpellier University Medical Center, 80 Avenue Augustin Fliche, Montpellier, 34295, France.

Background: Second and third surgeries were demonstrated as safe and efficient in recurrent diffuse low-grade glioma (LGG). Here, the feasibility of more than 3 resections is investigated.

Methods: Patients who underwent 4 or 5 operations for recurrent initially WHO grade 2 IDH-mutated gliomas were consecutively selected.

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Objective: To examine the efficacy and safety of the tubeless Omnipod 5 automated insulin delivery (AID) system compared with pump therapy with a continuous glucose monitor (CGM) in adults with type 1 diabetes with suboptimal glycemic outcomes.

Research Design And Methods: In this 13-week multicenter, parallel-group, randomized controlled trial performed in the U.S.

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The Neuroconnective Endophenotype, a New Approach Toward Typing Functional Neurological Disorder: A Case-Control Study.

J Neuropsychiatry Clin Neurosci

January 2025

Mental Health Institute, Hospital del Mar, Barcelona, Spain (Bulbena-Vilarrasa, Martínez-García, Pérez-Sola); Doctorate Program, Psychiatry and Forensic Medicine Barcelona, Universitat Autònoma de Barcelona, Barcelona, Spain (Bulbena-Vilarrasa, Martínez-García); Centro de Investigación Biomédica en Red de Salud Mental, Instituto de Salud Carlos III-ES, Madrid (Bulbena-Vilarrasa, Pintor Pérez, Pérez-Sola); Consultation Liaison Psychiatry Unit, Department of Psychiatry and Psychology, Hospital Clinic de Barcelona, Institute of Neuroscience Barcelona, Barcelona, Spain (Pintor Pérez, Camara, Arbelo-Cabrera); Department of Medicine, School of Medicine Barcelona, University of Barcelona, Barcelona, Spain (Pintor Pérez); August Pi i Sunyer Institute of Biomedical Research Barcelona, Catalunya, Spain (Pintor Pérez); Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York (Bulbena-Cabré); Facultad de Ciencias de la Salud y de la Vida, Universitat Pompeu Fabra, Barcelona, Spain (Pérez-Sola); Laboratoire de Psychopathologie et Processus de Santé, Université Paris Cite, Paris, Île-de-France, France (Baeza-Velasco); Department of Emergency Psychiatry and Acute Care, Montpellier 2 University, Montpellier, Occitanie, France (Baeza-Velasco); University of Montpellier, Centre National de la Recherche Scientifique, Inserm, Institute of Functional Genomics, Montpellier, Occitanie, France (Baeza-Velasco).

Article Synopsis
  • Functional neurological disorder (FND) is a condition with both physical and mental symptoms, and a new phenotype called neuroconnective endophenotype (NEP) has been linked to anxiety and joint hypermobility.
  • A study involving 27 FND patients and 27 healthy controls revealed that FND patients demonstrated greater sensory sensitivity, higher rates of hypermobility, more psychiatric and physical comorbidities, and more anxiety-related symptoms.
  • The findings suggest that the NEP could help categorize FND patients, offering a better understanding of their complex physical and mental health issues.
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Article Synopsis
  • Researchers studied 600 patients with a specific type of brain tumor called IDH-mutant low-grade gliomas to see how well a certain type of surgery called awake functional-based resection worked for them.
  • The results showed that most patients (93.7%) returned to work, and the surgery had a small effect on thinking skills.
  • Patients lived a long time after surgery, with the average survival time being over 20 years, and certain factors like type of tumor and how much was removed during surgery helped predict better outcomes.
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Paracrine FGF1 signaling directs pituitary architecture and size.

Proc Natl Acad Sci U S A

October 2024

Laboratoire de génétique moléculaire, Institut de recherches cliniques de Montréal, Montréal, QC H2W 1R7, Canada.

Organ architecture is established during development through intricate cell-cell communication mechanisms, yet the specific signals mediating these communications often remain elusive. Here, we used the anterior pituitary gland that harbors different interdigitated hormone-secreting homotypic cell networks to dissect cell-cell communication mechanisms operating during late development. We show that blocking differentiation of corticotrope cells leads to pituitary hypoplasia with a major effect on somatotrope cells that directly contact corticotropes.

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Article Synopsis
  • Idiopathic intracranial hypertension (IIH) is linked to chronic headaches driven by high intracranial pressure (ICP) and potentially influenced by cerebral venous sinus pressure, which needs more research to understand their relationship.
  • A study investigated 52 patients suspected of having IIH, measuring both lumbar puncture opening pressure (LPOP) and cerebral venous sinus pressure, finding strong correlations between these measurements.
  • Results confirmed that the torcular pressure aligns closely with LPOP, indicating that these two methods are consistent for assessing ICP in IIH patients, which can help in clinical decision-making.
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