1,413 results match your criteria: "a Centre de Biologie du Developpement; CNRS; Universite de Toulouse ; Toulouse[Affiliation]"

Specific Requirement of the p84/p110γ Complex of PI3Kγ for Antibody-Activated, Inducible Cross-Presentation in Murine Type 2 DCs.

Adv Sci (Weinh)

November 2024

Centre de Recherche sur l'Inflammation, INSERM UMR1149, CNRS EMR8252, Faculté de Médecine site Bichat, Université Paris Cité, Paris, 75018, France.

Cross-presentation by MHCI is optimally efficient in type 1 dendritic cells (DC) due to their high capacity for antigen processing. However, through specific pathways, other DCs, such as type 2 DCs and inflammatory DCs (iDCs) can also cross-present antigens. FcγR-mediated uptake by type 2 DC and iDC subsets mediates antibody-dependent cross-presentation and activation of CD8 T cell responses.

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Cell-cycle-dependent mRNA localization in P-bodies.

Mol Cell

November 2024

Sorbonne Université, CNRS, Institut de Biologie Paris Seine (IBPS), Laboratoire de Biologie du Développement, 75005 Paris, France. Electronic address:

Article Synopsis
  • Understanding RNA targeting to membraneless organelles like P-bodies (PBs) is crucial for revealing their functions in cells.
  • This study shows that PBs in HEK293 cells undergo significant changes in RNA content throughout the cell cycle, with different mRNA localization patterns appearing at various stages (G1, S, G2).
  • The findings suggest that PBs actively sort mRNAs based on their translation status and characteristics, implying that they play a more dynamic role than merely housing excess untranslated mRNAs.
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In a global change scenario, ocean warming and pathogen infection can occur simultaneously in coastal areas, threatening marine species. Data are shown on the impact of temperature on early larvae of the Mediterranean mussel Mytilus galloprovincialis. Increasing temperatures (18-20-22 °C) altered larval phenotypes at 48 hpf and affected gene expression from eggs to 24 and 48 hpf, with shell biogenesis related genes among the most affected.

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Article Synopsis
  • ARID1A and ARID1B duplications are linked to Coffin-Siris syndrome, but ARID1B duplications have not been previously associated with a specific clinical phenotype until now.
  • A study analyzed 16 cases of ARID1A and 13 cases of ARID1B duplications, revealing that ARID1A duplications resulted in more severe symptoms, including intellectual disabilities and growth delays, while both groups displayed similar features.
  • The research identified unique DNA methylation patterns in ARID1A duplication patients, which differ from those with loss-of-function variants, suggesting the presence of a distinct clinical phenotype for both ARID1A and ARID1B duplications, indicating a new type of
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Biofilms inactivate the free-living stage of Batrachochytrium dendrobatidis, the most destructive pathogen for vertebrate diversity.

ISME J

January 2024

Centre de Recherche sur la Biodiversité et l'Environnement (Unité Mixte de Recherche UMR 5300), Université de Toulouse, Centre National de la Recherche Scientifique (CNRS), Institut de Recherche pour le Developpement (IRD), Institut National Polytechnique de Toulouse (INPT), Université Toulouse 3-Paul Sabatier, 118 Route de Narbonne, Toulouse Cedex 31062, France.

Emerging infectious diseases threaten biodiversity and human health. Many emerging pathogens have aquatic life stages and all immersed substrates have biofilms on their surface, i.e.

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Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

Ann Neurol

September 2024

Department of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Peking University, Beijing, China.

Article Synopsis
  • - This study examines the link between rare variants in the cullin-3 ubiquitin ligase (CUL3) gene and neurodevelopmental disorders (NDDs), gathering data from multiple centers to explore genetic mutations and their clinical impacts.
  • - Researchers identified 37 individuals with CUL3 variants, most of which result in loss-of-function (LoF), leading to intellectual disabilities and possibly autistic traits; specific mechanisms affecting protein stability were also investigated.
  • - The findings enhance the understanding of NDDs associated with CUL3 mutations, suggesting that LoF variants are the main cause, which could help inform future diagnostics and treatment strategies.
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[A role of astral microtubules in the orientation of cell division: when length counts… too!].

Med Sci (Paris)

September 2024

Université d'Aix-Marseille, CNRS UMR 7288, Institut de biologie du développement de Marseille, Centre Turing des systèmes vivants, Marseille, France - Équipe labellisée Fondation ARC.

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Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Genet Med

September 2024

Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK. Electronic address:

Purpose: This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar protein ACTL6B in contributing to the disease has remained unclear.

Methods: We identified 105 affected individuals, including 39 previously reported cases, and systematically analysed detailed clinical and genetic data for all individuals.

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Real-world prevalence, treatment and survival of "high risk" early breast cancer, with mandatory testing of gBRCA1/2 mutation according to the OlympiA trial inclusion criteria: Data from a population-based registry.

Breast

December 2024

INSERM U1231, Université de Bourgogne, 21000, Dijon, France; Breast and Gynaecologic Cancer Registry of Côte d'Or, Epidemiology and Quality of Life Research Unit, Georges-François Leclerc Comprehensive Cancer Centre-UNICANCER, 1 rue du Professeur Marion, 21000, Dijon, France.

Article Synopsis
  • The OlympiA study approved olaparib as an adjuvant treatment for high-risk early breast cancer patients with BRCA1/2 mutations, but the actual percentage of patients meeting these high-risk criteria in practical settings is unknown.
  • The study analyzed data from the Côte d'Or Breast and Gynecological Cancer Registry, examining the long-term prognosis of patients treated for early breast cancer between 2005 and 2015, finding only 1.8% had BRCA mutations and 14.2% were classified as high risk.
  • Results showed high-risk patients had significantly worse 10-year overall survival rates compared to other patients, highlighting the need for careful patient identification to ensure those who could benefit from olaparib receive appropriate care
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Linear podosomes display low Cdc42 activity for proplatelet elongation by megakaryocytes.

Biochem Biophys Res Commun

November 2024

Unité de Biologie Moléculaire, Cellulaire et du Développement (MCD, UMR 5077), Centre de Biologie Intégrative (CBI, FR 3743), Université de Toulouse, CNRS, UPS, 118 Route de Narbonne F-31062, Toulouse, France. Electronic address:

Blood platelets result from differentiation of megakaryocytes (MKs) into the bone marrow. It culminates with the extension of proplatelets (PPT) through medullar sinusoids and release of platelets in the blood stream. Those processes are regulated by contact with the microenvironment mediated by podosomes.

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Article Synopsis
  • * A collaboration via GeneMatcher discovered new cases, including a female patient with complete situs inversus and other health issues linked to the MNS1 variants.
  • * The findings also included sibling fetuses with different MNS1 mutations, contributing to a better understanding of this rare malformation syndrome.
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Collective cell migration is crucial in various physiological processes, including wound healing, morphogenesis, and cancer metastasis. Adherens Junctions (AJs) play a pivotal role in regulating cell cohesion and migration dynamics during tissue remodeling. While the role and origin of the junctional mechanical tension at AJs have been extensively studied, the influence of the actin cortex structure and dynamics on junction plasticity remains incompletely understood.

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Article Synopsis
  • Pathogenic variants in a specific gene lead to an autosomal dominant syndrome characterized by developmental delays and heart issues.
  • The study focused on two variants near the splice site of exon 7, which were predicted to either skip exon 7 or activate an alternative splice site, affecting protein function.
  • RNA analysis confirmed these variants led to intron retention, causing a frameshift and early termination of protein translation, emphasizing the need for both predictive and experimental methods to understand genetic variants' impacts.
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Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.

Pediatr Neurol

November 2024

Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, Québec, Canada; Department of Pediatrics, University of Montreal, Montreal, Québec, Canada. Electronic address:

Article Synopsis
  • GTPases from the Rab family play a crucial role in membrane trafficking, and issues with these proteins have been linked to various neurological disorders, particularly involving RAB11A variants causing developmental and epileptic encephalopathy.
  • The study examined 16 patients with RAB11A variants, mostly de novo heterozygous missense mutations, finding that these variants are associated with intellectual disability, developmental delays, and a range of other physical and neurological symptoms.
  • The research suggests that while epilepsy is less common and less severe in patients with binding site mutations, the RAB11A neurodevelopmental disorder can affect multiple body systems, including gait, muscle tone, brain structure, and even fat distribution.
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Purpose: Fertility issues are of great concern for young women undergoing treatment for breast cancer (BC). Fertility preservation (FP) protocols using controlled ovarian stimulation (COS) with letrozole have been widely used with overall good results. However, letrozole cannot be used in every country in this context.

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[Validation of a method for measuring the antielastolytic activity of human circulating alpha1-antitrypsin].

Ann Biol Clin (Paris)

August 2024

CHU Lille, Service de Biochimie Biologie Moléculaire, Univ. Lille, Laboratoire de Biochimie Biologie moléculaire, ULR 7364 - RADEME - Maladies RAres du DÉveloppement embryonnaire et du Métabolisme, F-59000 Lille, France.

The existence of alpha-1 antitrypsin variants with apparently unremarkable phenotypes and serum concentrations, contrasting with a clinical picture suggestive of a severe deficiency, led us to investigate whether in these cases there was a reduction or even suppression of the capacity of alpha-1 antitrypsin to inhibit elastase. To this end, in two different laboratories, we adapted and validated a method for measuring the functional activity of alpha-1 antitrypsin, based on spectrophotometric kinetic analysis of the inhibition by serum alpha-1 antitrypsin of the hydrolytic activity of porcine pancreatic elastase on a chromogenic substrate. This method has proved to be robust, reproducible and transferable and made possible to define, on the basis of an analysis of a hospital population, a functionality index with a confidence interval comprised between 0.

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Article Synopsis
  • Prenatal exome sequencing (pES) is increasingly used to diagnose fetuses with structural defects, identifying additional conditions in about 30% who have normal chromosomal microarray analysis (CMA).
  • A study categorized prenatal phenotypes for fetuses with pathogenic variants, finding typical features in 67.9% of cases, while uncommon or unreported features complicated some interpretations.
  • Recommendations include standardizing prenatal feature descriptions, enhancing follow-up practices, and collecting larger datasets to improve pES analysis.
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Earth harbours an extraordinary plant phenotypic diversity that is at risk from ongoing global changes. However, it remains unknown how increasing aridity and livestock grazing pressure-two major drivers of global change-shape the trait covariation that underlies plant phenotypic diversity. Here we assessed how covariation among 20 chemical and morphological traits responds to aridity and grazing pressure within global drylands.

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Insights into early animal evolution from the genome of the xenacoelomorph worm .

Elife

August 2024

Center for Life's Origins and Evolution, Department of Genetics, Evolution and Environment, University College London, London, United Kingdom.

Article Synopsis
  • The evolutionary origin of Bilateria is unclear, but similarities between cnidarian-like larvae and simple flatworms suggest a connection, linking Xenacoelomorpha as a potential early branch of Bilateria.
  • This study focuses on assembling and analyzing the genome of a marine xenacoelomorph, discovering it has a genome size of ~111 Mbp with characteristics similar to other bilaterians.
  • The findings indicate that despite its simple body plan, the xenacoelomorph has a complex genome and retains many features typical of bilaterians, challenging previous assumptions about its evolutionary simplicity.
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Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

Am J Hum Genet

August 2024

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.

Article Synopsis
  • KMT2C and KMT2D are important enzymes that modify genes, with KMT2C haploinsufficiency recently linked to Kleefstra syndrome 2, a neurodevelopmental disorder (NDD) with unknown clinical details.
  • A study involving 98 individuals found that most pathogenic variants in KMT2C span nearly all its exons, making variant interpretation difficult; the study also established a KMT2C DNA methylation signature for better classification of the disorder.
  • Key features of KMT2C-related NDD include developmental delays, intellectual disabilities, and distinct facial characteristics, setting it apart from similar conditions like Kleefstra and Kabuki syndromes, indicating the need for its renaming and
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Diagnosis and management of children and adult craniopharyngiomas: A French Endocrine Society/French Society for Paediatric Endocrinology & Diabetes Consensus Statement.

Ann Endocrinol (Paris)

July 2024

Department of Endocrinology, CHU Bordeaux, Hôpital Haut Lévêque, Neurocentre Magendie, Physiopathologie de la Plasticité Neuronale, Université de Bordeaux, Pessac, France.

Article Synopsis
  • * The French Endocrine Society and associated organizations created a reference document to address the complexities of managing these tumors, which can recur and lead to serious health issues, including impaired quality of life for patients, especially those with hypothalamic syndrome.
  • * Recent research has identified two tumor types—papillary and adamantinomatous—with different molecular signatures and treatment strategies, prompting ongoing developments in therapeutic options, including new medications for associated symptoms like hyperphagia.
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Introduction: The oropharyngeal microbiome plays an important role in protection against infectious agents when in balance. Despite use of vaccines and antibiotic therapy to prevent respiratory tract infections, they remain one of the major causes of mortality and morbidity in Low- and middle-income countries. Hence the need to explore other approaches to prevention by identifying microbial biomarkers that could be leveraged to modify the microbiota in order to enhance protection against pathogenic bacteria.

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Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency.

Neurol Genet

August 2024

From the Université Paris Cité (A.R., M.S.), Institut Imagine, Génétique des maladies mitochondriales, INSERM UMR 1163; Centre de Référence des Maladies Mitochondriales (A.R., P.G., G.B., Z.A., C.-M.B., M.B., M.-T.A.-W., P.D.L., I.D., E.G., E.J., A.D.S.-M., N.B., A.M., M.S.), AP-HP, Hôpital Necker-Enfants Malades, Paris; Service de Biochimie (P.G.), AP-HP, Hôpital Bicêtre, Le Kremlin-Bicêtre; Service de médecine génomique des maladies rares (G.B., Z.A.), AP-HP, Hôpital Necker-Enfants Malades, Paris; Service de Génétique (M.B., D.B.), Centre Hospitalier Universitaire; Service de génétique clinique (L.D.), Centre de Compétences Maladies Héréditaires du Métabolisme, CHU de Rennes; Unité de Gastroentérologie (N.L., P.B.), Hépatologie, Nutrition, Diabétologie et Maladies Héréditaires du Métabolisme, Hôpital des Enfants, CHU de Toulouse; Service de Neuropédiatrie (M.-T.A.-W., A.D.S.-M.), CHU de Strasbourg; Service de Neurométabolisme pédiatrique (B.C.), CHU Timone, Marseille; Service et Centre de référence des maladies héréditaires du métabolisme (P.D.L., M.S.); Service de Neurophysiologie pédiatrique (I.D., C.G.), AP-HP, Hôpital Necker-Enfants Malades, Paris; Service de Génétique (A.G.), CHU de Rouen; Pediatric Hepatology and Pediatric Liver Transplant Unit (E.G., E.J.), AP-HP, CHU Bicêtre, Le Kremlin-Bicêtre; Laboratoire de Biochimie et Biologie Moléculaire (P.A.-B.), CHU d'Angers; Pédiatrie générale et maladies infectieuses (V.A.), AP-HP, Hôpital Necker-Enfants Malades, Paris; Service de médecine infantile (C.B.), CHU de Nancy; Service de Réanimation pédiatrique et néonatale (P.D.), AP-HP, Hôpital Bicêtre, Le Kremlin-Bicêtre; Centre de référence des maladies héréditaires du métabolisme (A.F.), Hospices civils de Lyon, CHU de Lyon; Service de génétique médicale (B.I.), CHU de Nantes; Service de Neurologie Pédiatrique (M.J.), AP-HP, Hôpital Robert Debré, Paris; Génétique Clinique et Oncogénétique (G.J.), CHU Amiens-Picardie; Service de Neurologie pédiatrie (H.M.), AP-HP, Hôpital Bicêtre, Le Kremlin-Bicêtre; Centre de référence des Maladies Héréditaires du métabolisme (K.M.), Hôpital Jeanne de Flandre, Lille; Service de Génétique Clinique (S.S.O., L.P.), CRMR anomalies du développement CLAD-Ouest, Rennes; Service de neurologie pédiatrique (C.R.-J.), Hospices civils de Lyon, CHU de Lyon; Imagerie pédiatrique (C.-J.R., N.B.), AP-HP, Hôpital Necker-Enfants Malades, Université Paris Cité; and Université Paris Cité (A.M.), Imagine Institute, INSERM UMR 1163, Paris, France.

Article Synopsis
  • - POLG deficiency is the most common cause of nuclear-encoded mitochondrial disorders, leading to a range of overlapping symptoms from infancy to adulthood, as seen in a study of 40 children with biallelic pathogenic variants.
  • - The study identified three main clinical patterns (neurologic, hepatic, gastrointestinal), with 24 patients requiring urgent care mainly due to severe neurologic issues like seizures and epilepsy.
  • - Most children with hepatic symptoms had the earliest onset and shortest survival rates, while those with gastrointestinal issues had milder symptoms and lived longer; overall, the prognosis was poor, with many fatalities occurring by age 10.
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Serum androgen dynamics in young women aged 18-40 treated with chemotherapy for breast cancer: an observational, multicentric, prospective study in France.

Hum Fertil (Camb)

December 2024

Service de médecine et biologie du développement et de la reproduction, CHU de Nantes, Bd Jean Monnet, Nantes, France.

Although the deleterious impact of chemotherapy regimen used to treat women of reproductive age with breast cancer on ovarian reserve has been extensively studied, hardly anything has been reported on the effect of these protocols on theca cell function and ovarian androgen secretion. The aim of this prospective multicentric cohort study was to describe serum levels of total testosterone and androstenedione during chemotherapy and 24-month follow-up in 250 patients <40 years treated for breast cancer. Mean basal levels of androstenedione and total testosterone at diagnosis were 1.

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