Lack of CCDC146, a ubiquitous centriole and microtubule-associated protein, leads to non-syndromic male infertility in human and mouse.

cell biology flagellum genetics genomics human infertility mouse sperm

Journal

eLife
ISSN: 2050-084X
Titre abrégé: Elife
Pays: England
ID NLM: 101579614

Informations de publication

Date de publication:
05 Mar 2024
Historique:
medline: 5 3 2024
pubmed: 5 3 2024
entrez: 5 3 2024
Statut: epublish

Résumé

From a cohort of 167 infertile patients suffering from multiple morphological abnormalities of the flagellum (MMAF), pathogenic bi-allelic mutations were identified in the

Identifiants

pubmed: 38441556
doi: 10.7554/eLife.86845
pii: 86845
doi:
pii:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : European Research Council
ID : 715289
Pays : International

Informations de copyright

© 2023, Muroňová, Kherraf et al.

Déclaration de conflit d'intérêts

JM, ZK, EG, EL, SE, CC, AA, MC, GC, GM, YN, FK, LW, NK, VH, LD, JE, PG, CC, SM, MK, AB, RZ, NT, SN, SG, CL, PR, CA No competing interests declared

Auteurs

Jana Muroňová (J)

Institute for Advanced Biosciences (IAB), INSERM 1209, Grenoble, France.
Institute for Advanced Biosciences (IAB), CNRS UMR 5309, Grenoble, France.
Institute for Advanced Biosciences (IAB), Université Grenoble Alpes, Grenoble, France.

Zine Eddine Kherraf (ZE)

Institute for Advanced Biosciences (IAB), INSERM 1209, Grenoble, France.
Institute for Advanced Biosciences (IAB), CNRS UMR 5309, Grenoble, France.
Institute for Advanced Biosciences (IAB), Université Grenoble Alpes, Grenoble, France.
UM GI-DPI, CHU Grenoble Alpes, Grenoble, France.

Elsa Giordani (E)

Institute for Advanced Biosciences (IAB), INSERM 1209, Grenoble, France.
Institute for Advanced Biosciences (IAB), CNRS UMR 5309, Grenoble, France.
Institute for Advanced Biosciences (IAB), Université Grenoble Alpes, Grenoble, France.

Emeline Lambert (E)

Institute for Advanced Biosciences (IAB), INSERM 1209, Grenoble, France.
Institute for Advanced Biosciences (IAB), CNRS UMR 5309, Grenoble, France.
Institute for Advanced Biosciences (IAB), Université Grenoble Alpes, Grenoble, France.

Simon Eckert (S)

Cell Biology/ Electron Microscopy, University of Bayreuth, Bayreuth, Germany.

Caroline Cazin (C)

Institute for Advanced Biosciences (IAB), INSERM 1209, Grenoble, France.
Institute for Advanced Biosciences (IAB), CNRS UMR 5309, Grenoble, France.
Institute for Advanced Biosciences (IAB), Université Grenoble Alpes, Grenoble, France.
UM GI-DPI, CHU Grenoble Alpes, Grenoble, France.

Amir Amiri-Yekta (A)

Institute for Advanced Biosciences (IAB), INSERM 1209, Grenoble, France.
Institute for Advanced Biosciences (IAB), CNRS UMR 5309, Grenoble, France.
Institute for Advanced Biosciences (IAB), Université Grenoble Alpes, Grenoble, France.
Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Islamic Republic of Iran.

Magali Court (M)

Institute for Advanced Biosciences (IAB), INSERM 1209, Grenoble, France.
Institute for Advanced Biosciences (IAB), CNRS UMR 5309, Grenoble, France.
Institute for Advanced Biosciences (IAB), Université Grenoble Alpes, Grenoble, France.

Geneviève Chevalier (G)

Institute for Advanced Biosciences (IAB), INSERM 1209, Grenoble, France.
Institute for Advanced Biosciences (IAB), CNRS UMR 5309, Grenoble, France.
Institute for Advanced Biosciences (IAB), Université Grenoble Alpes, Grenoble, France.

Guillaume Martinez (G)

Institute for Advanced Biosciences (IAB), INSERM 1209, Grenoble, France.
Institute for Advanced Biosciences (IAB), CNRS UMR 5309, Grenoble, France.
Institute for Advanced Biosciences (IAB), Université Grenoble Alpes, Grenoble, France.
UM de Génétique Chromosomique, Hôpital Couple-Enfant, CHU Grenoble Alpes, Grenoble, France.

Yasmine Neirijnck (Y)

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.

Francoise Kühne (F)

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.

Lydia Wehrli (L)

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.

Nikolai Klena (N)

University of Geneva, Department of Molecular and Cellular Biology, Sciences III, Geneva, Switzerland.

Virginie Hamel (V)

University of Geneva, Department of Molecular and Cellular Biology, Sciences III, Geneva, Switzerland.

Lisa De Macedo (L)

Institute for Advanced Biosciences (IAB), INSERM 1209, Grenoble, France.
Institute for Advanced Biosciences (IAB), CNRS UMR 5309, Grenoble, France.
Institute for Advanced Biosciences (IAB), Université Grenoble Alpes, Grenoble, France.

Jessica Escoffier (J)

Institute for Advanced Biosciences (IAB), INSERM 1209, Grenoble, France.
Institute for Advanced Biosciences (IAB), CNRS UMR 5309, Grenoble, France.
Institute for Advanced Biosciences (IAB), Université Grenoble Alpes, Grenoble, France.

Paul Guichard (P)

University of Geneva, Department of Molecular and Cellular Biology, Sciences III, Geneva, Switzerland.

Charles Coutton (C)

Institute for Advanced Biosciences (IAB), INSERM 1209, Grenoble, France.
Institute for Advanced Biosciences (IAB), CNRS UMR 5309, Grenoble, France.
Institute for Advanced Biosciences (IAB), Université Grenoble Alpes, Grenoble, France.
UM de Génétique Chromosomique, Hôpital Couple-Enfant, CHU Grenoble Alpes, Grenoble, France.

Selima Fourati Ben Mustapha (SFB)

Polyclinique les Jasmins, Centre d'Aide Médicale à la Procréation, Centre Urbain Nord, Tunis, Tunisia.

Mahmoud Kharouf (M)

Polyclinique les Jasmins, Centre d'Aide Médicale à la Procréation, Centre Urbain Nord, Tunis, Tunisia.

Anne-Pacale Bouin (AP)

Institute for Advanced Biosciences (IAB), INSERM 1209, Grenoble, France.
Institute for Advanced Biosciences (IAB), CNRS UMR 5309, Grenoble, France.
Institute for Advanced Biosciences (IAB), Université Grenoble Alpes, Grenoble, France.

Raoudha Zouari (R)

Polyclinique les Jasmins, Centre d'Aide Médicale à la Procréation, Centre Urbain Nord, Tunis, Tunisia.

Nicolas Thierry-Mieg (N)

Laboratoire TIMC/MAGe, CNRS UMR 5525, Pavillon Taillefer, Faculté de Medecine, La Tronche, France.

Serge Nef (S)

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.

Stefan Geimer (S)

Cell Biology/ Electron Microscopy, University of Bayreuth, Bayreuth, Germany.

Corinne Loeuillet (C)

Institute for Advanced Biosciences (IAB), INSERM 1209, Grenoble, France.
Institute for Advanced Biosciences (IAB), CNRS UMR 5309, Grenoble, France.
Institute for Advanced Biosciences (IAB), Université Grenoble Alpes, Grenoble, France.

Pierre F Ray (PF)

Institute for Advanced Biosciences (IAB), INSERM 1209, Grenoble, France.
Institute for Advanced Biosciences (IAB), CNRS UMR 5309, Grenoble, France.
Institute for Advanced Biosciences (IAB), Université Grenoble Alpes, Grenoble, France.
UM GI-DPI, CHU Grenoble Alpes, Grenoble, France.

Christophe Arnoult (C)

Institute for Advanced Biosciences (IAB), INSERM 1209, Grenoble, France.
Institute for Advanced Biosciences (IAB), CNRS UMR 5309, Grenoble, France.
Institute for Advanced Biosciences (IAB), Université Grenoble Alpes, Grenoble, France.

Classifications MeSH