Résultat de recherche

1788 results found for your search

  • The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.

    Friederike Petzold, Katy Billot, Xiaoyi Chen, Yoann Martin, Maxime Douillet, Cécile Jeanpierre, Olivia Boyer, Aude Servais, Alexandre Benmerah , Laurence Heidet, Nicolas Garcelon, Corinne Antignac, Sophie Saunier, Tania Attié-Bitach, Jean-Michel Rozet, Lydie Burglen, Marlène Rio, Sabine Sarnacki

    Source :

    Kidney Int

    2023 Aug 1

    Pmid / DOI:

    37230223

  • 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

    Source :

    Front Mol Biosci

    2023 Jan 1

    Pmid / DOI:

    37916190

  • Meta-analysis of single-cell and single-nucleus transcriptomics reveals kidney cell type consensus signatures.

    Marceau Quatredeniers, Alexandre Benmerah , Antonio Rausell, Sophie Saunier, Amandine Viau

    Source :

    Sci Data

    2023 Jun 6

    Pmid / DOI:

    37280226

  • Repurposing small molecules for nephronophthisis and related renal ciliopathies.

    Alexandre Benmerah , Sophie Saunier

    Source :

    Kidney Int

    2023 Aug 1

    Pmid / DOI:

    37244473

  • 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

    Source :

    Proc Natl Acad Sci U S A

    2022 May 3

    Pmid / DOI:

    35482924

  • The renal inflammatory network of nephronophthisis.

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

    Source :

    Hum Mol Genet

    2022 Jul 7

    Pmid / DOI:

    35043953

  • Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.

    Guillaume Dorval, Christelle Arrondel, Tania Attié-Bitach, Cécile Jeanpierre, Sophie Saunier, Laurence Heidet

    Source :

    Hum Mutat

    2022 Mar 1

    Pmid / DOI:

    35005812

  • Revolutionising healing: Gene Editing's breakthrough against sickle cell disease.

    Annarita Miccio

    Source :

    Blood Rev

    2024 Mar 7

    Pmid / DOI:

    38493007

  • Progress and harmonization of gene editing to treat human diseases: Proceeding of COST Action CA21113 GenE-HumDi.

    Annarita Miccio

    Source :

    Mol Ther Nucleic Acids

    2023 Dec 12

    Pmid / DOI:

    38034032