Resources

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 déc 12

Pmid / DOI: 38034032

TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum

Jeanne Amiel, Jean-Michel Rozet, Jean-Michel Rozet

Source : Cold Spring Harbor Laboratory

2023 nov 20

Pmid / DOI: https://doi.org/10.1101/2022.10.19.22280748

Identification of Greb1l as a genetic determinant of crisscross heart in mice showing torsion of the heart tube by shortage of progenitor cells.

Ségolène Bernheim , Emeline Perthame, Audrey Desgrange, Cindy Michel, Laurent GUILLEMOT, Damien Bonnet, Sigolène Meilhac

Source : Dev Cell

2023 nov 6

Pmid / DOI: 37852253

TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum

Jeanne Amiel, Jean-Michel Rozet, Jean-Michel Rozet

Source : Cold Spring Harbor Laboratory

2023 oct 16

Pmid / DOI: https://doi.org/10.1101/2022.10.19.22280748

medRxiv

Jeanne Amiel, Pierre David, Nathalie Boddaert, Jean-Michel Rozet

Source : Cold Spring Harbor Laboratory

2023 oct 13

Pmid / DOI: https://doi.org/10.1101/2023.08.19.23293832

medRxiv

Jeanne Amiel, Pierre David, Nathalie Boddaert, Jean-Michel Rozet

Source : Cold Spring Harbor Laboratory

2023 oct 13

Pmid / DOI: 10.1101/2023.08.19.23293832

Identification of Greb1l as a genetic determinant of crisscross heart in mice showing torsion of the heart tube by shortage of progenitor cells.

Ségolène Bernheim , Emeline Perthame, Audrey Desgrange, Cindy Michel, Laurent GUILLEMOT, Damien Bonnet, Sigolène Meilhac

Source : Dev Cell

2023 oct 13

Pmid / DOI: 37852253

PCDH12 loss results in premature neuronal differentiation and impeded migration in a cortical organoid model.

Jean-Michel Rozet

Source : Cell Rep

2023 aoû 29

Pmid / DOI: 37480564

Sickle Cell Disease: From Genetics to Curative Approaches.

Giulia Hardouin, Marina Cavazzana, Annarita Miccio

Source : Annu Rev Genomics Hum Genet

2023 aoû 25

Pmid / DOI: 37624668

Repurposing of the multiciliation gene regulatory network in fate specification of Cajal-Retzius neurons.

Yoann Saillour, Vicente Elorriaga, Elodie Delberghe, Alessandra Pierani, Frédéric Causeret

Source : Dev Cell

2023 aoû 7

Pmid / DOI: 37321213

Repurposing of the multiciliation gene regulatory network in fate specification of Cajal-Retzius neurons.

Yoann Saillour, Vicente Elorriaga, Elodie Delberghe, Alessandra Pierani, Frédéric Causeret

Source : Dev Cell

2023 aoû 7

Pmid / DOI: 37321213

Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy.

Jean-Michel Rozet

Source : EMBO Mol Med

2023 aoû 7

Pmid / DOI: 37431816

A wave of deep intronic mutations in X-linked Alport syndrome.

Christelle Arrondel, Hassan Saei, Laurence Heidet, Jessica Kachmar, Philippe Couarch, Olivier Gribouval, Mélanie Parisot, Patrick Nitschké, Corinne Antignac, Guillaume Dorval

Source : Kidney Int

2023 aoû 1

Pmid / DOI: 37230224

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 aoû 1

Pmid / DOI: 37230223