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Fluid shear stress triggers cholesterol biosynthesis and uptake in inner medullary collecting duct cells, independently of nephrocystin-1 and nephrocystin-4.

Giulia Ferri, Mélanie Parisot, Alexandre Benmerah , Sophie Saunier

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Preoperative Detection of Subtle Focal Cortical Dysplasia in Children by Combined Arterial Spin Labeling, Voxel-Based Morphometry, Electroencephalography-Synchronized Functional MRI, Resting-State Regional Homogeneity, and 18F-fluorodeoxyglucose Positron

Nathalie Boddaert, Ana Saitovitch, Thomas Blauwblomme, Rima NABBOUT, Volodia Dangouloff-Ros, Ludovic Fillon, Jennifer Boisgontier, Sarah Charpy, Raphaël Levy, Charles-Joris Roux

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Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells.

Jean-Michel Rozet, Isabelle Perrault

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Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells.

Jean-Michel Rozet

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Base-editing-mediated dissection of a γ-globin cis-regulatory element for the therapeutic reactivation of fetal hemoglobin expression.

Panagiotis Antoniou, Giulia Hardouin, Pierre Martinucci, Giacomo Frati, Tristan Felix, Anne Chalumeau, Letizia Fontana, Jeanne Martin, Mégane Brusson, Vincent Abramowski, Jean-Pierre De Villartay, Marina Cavazzana, Oriana Romano, Annarita Miccio

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CRISPRthripsis: The Risk of CRISPR/Cas9-induced Chromothripsis in Gene Therapy.

Mégane Brusson, Annarita Miccio

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Periodic electroencephalographic discharges and epileptic spasms involve cortico-striatal-thalamic loops on Arterial Spin Labeling Magnetic Resonance Imaging

Ludovic Fillon, Ana Saitovitch, Jennifer Boisgontier, Alice Vinçon-Leite, Volodia Dangouloff-Ros, Thomas Blauwblomme, Monica Zilbovicius , Rima NABBOUT, Nathalie Boddaert

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Arterial Spin-Labeling Perfusion Imaging in the Early Stage of Sturge-Weber Syndrome

Ludovic Fillon, Volodia Dangouloff-Ros, Mathieu Kuchenbuch , Raphaël Levy, Charles-Joris Roux, Ana Saitovitch, Jennifer Boisgontier, Rima NABBOUT, Nathalie Boddaert

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Optical genome mapping refines cytogenetic diagnostics, prognostic stratification and provides new molecular insights in adult MDS/AML patients.

Felipe Suarez, Olivier Hermine, Lucile Couronné

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The renal inflammatory network of nephronophthisis.

Marceau Quatredeniers, Giulia Ferri, Esther Porée, Katy Billot, Eléonore Birgy, Salomé Ceccarelli, Sophie Saunier, Amandine Viau

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Super-enhancer hypermutation alters oncogene expression in B cell lymphoma.

Elodie Bal

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Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.

Marion Coolen, Nami Altin, Karthyayani Rajamani , Giulia Barcia, Aurore POULIET, Patrick Nitschké, Nathalie Boddaert, Antonio Rausell, Lydie Burglen, Vincent Cantagrel

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Agonists of prostaglandin E2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies.

Hugo Garcia, Esther Porée, Amandine Viau, Katy Billot, Eléonore Birgy, Meriem Garfa-Traoré , Salomé Ceccarelli, Manon Mehraz, Corinne Antignac, Stanislas Lyonnet, Alexandre Benmerah , Sophie Saunier

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Pseudodynamic analysis of heart tube formation in the mouse reveals strong regional variability and early left-right asymmetry.

Audrey Desgrange, Sigolène Meilhac

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Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice

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