Whole genome sequencing identifies a homozygous splicing variant in TDRKH segregating with non-obstructive azoospermia in an Iranian family.

Autor: Amiri-Yekta A; Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran., Sen S; Univ. Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Grenoble, France.; CHU Grenoble Alpes, UM GI-DPI, Grenoble, France., Hazane-Puch F; CHU Grenoble Alpes, Medical Unit of Molecular Genetics (Hereditary Diseases and Oncology), Grenoble, France., Tebbakh C; Univ. Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Grenoble, France.; CHU Grenoble Alpes, UM GI-DPI, Grenoble, France., Roux-Buisson N; CHU Grenoble Alpes, Medical Unit of Molecular Genetics (Hereditary Diseases and Oncology), Grenoble, France., Cazin C; Univ. Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Grenoble, France.; CHU Grenoble Alpes, UM GI-DPI, Grenoble, France., Thierry-Mieg N; Univ. Grenoble Alpes, CNRS, UMR5525, TIMC, Grenoble, France., Bouras A; Centre Léon Bérard, Laboratory of Constitutional Genetics for Frequent Cancer HCL-CLB, Lyon, France., Mohammad Ali SG; Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran., Hosseini SH; Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran., Goodarzian M; Department of Andrology, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran., Gourabi H; Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran., Ray PF; Univ. Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Grenoble, France.; CHU Grenoble Alpes, UM GI-DPI, Grenoble, France., Kherraf ZE; Univ. Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Grenoble, France.; CHU Grenoble Alpes, UM GI-DPI, Grenoble, France.

Publikováno v: Clinical genetics [Clin Genet] 2024 Nov; Vol. 106 (5), pp. 625-631. Date of Electronic Publication: 2024 Jul 02.

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

Autor: 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., 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., 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., 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., Eckert S; Cell Biology/ Electron Microscopy, University of Bayreuth, Bayreuth, Germany., 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., 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., 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., 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., 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., Neirijnck Y; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland., Kühne F; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland., Wehrli L; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland., Klena N; University of Geneva, Department of Molecular and Cellular Biology, Sciences III, Geneva, Switzerland., Hamel V; University of Geneva, Department of Molecular and Cellular Biology, Sciences III, Geneva, Switzerland., 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., 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., Guichard P; University of Geneva, Department of Molecular and Cellular Biology, Sciences III, Geneva, Switzerland., 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., Mustapha SFB; Polyclinique les Jasmins, Centre d'Aide Médicale à la Procréation, Centre Urbain Nord, Tunis, Tunisia., Kharouf M; Polyclinique les Jasmins, Centre d'Aide Médicale à la Procréation, Centre Urbain Nord, Tunis, Tunisia., 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., Zouari R; Polyclinique les Jasmins, Centre d'Aide Médicale à la Procréation, Centre Urbain Nord, Tunis, Tunisia., Thierry-Mieg N; Laboratoire TIMC/MAGe, CNRS UMR 5525, Pavillon Taillefer, Faculté de Medecine, La Tronche, France., Nef S; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland., Geimer S; Cell Biology/ Electron Microscopy, University of Bayreuth, Bayreuth, Germany., 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., 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., 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.

Publikováno v: ELife [Elife] 2024 Mar 05; Vol. 12. Date of Electronic Publication: 2024 Mar 05.

A splice donor variant of GAS8 induces structural disorganization of the axoneme in sperm flagella and leads to nonsyndromic male infertility.

Autor: Kherraf ZE; Team Genetics Epigenetics and Therapies of Infertility (GETI), Institute for Advanced Biosciences, INSERM U 1209, CNRS UMR 5309, Univ. Grenoble Alpes, Grenoble, France.; CHU Grenoble Alpes, UM GI-DPI, Grenoble, France., Barbotin AL; CHU Lille, Institut de Biologie de la Reproduction-Spermiologie-CECOS, Lille, France., Martinez G; Team Genetics Epigenetics and Therapies of Infertility (GETI), Institute for Advanced Biosciences, INSERM U 1209, CNRS UMR 5309, Univ. Grenoble Alpes, Grenoble, France.; CHU Grenoble Alpes, UM de Génétique Chromosomique, Grenoble, France., Mazet A; Team Genetics Epigenetics and Therapies of Infertility (GETI), Institute for Advanced Biosciences, INSERM U 1209, CNRS UMR 5309, Univ. Grenoble Alpes, Grenoble, France., Cazin C; Team Genetics Epigenetics and Therapies of Infertility (GETI), Institute for Advanced Biosciences, INSERM U 1209, CNRS UMR 5309, Univ. Grenoble Alpes, Grenoble, France.; CHU Grenoble Alpes, UM GI-DPI, Grenoble, France., Coutton C; Team Genetics Epigenetics and Therapies of Infertility (GETI), Institute for Advanced Biosciences, INSERM U 1209, CNRS UMR 5309, Univ. Grenoble Alpes, Grenoble, France.; CHU Grenoble Alpes, UM de Génétique Chromosomique, Grenoble, France., Arnoult C; Team Genetics Epigenetics and Therapies of Infertility (GETI), Institute for Advanced Biosciences, INSERM U 1209, CNRS UMR 5309, Univ. Grenoble Alpes, Grenoble, France., Thierry-Mieg N; Univ. Grenoble Alpes, CNRS, UMR 5525, TIMC/MAGe, Grenoble, France., Rives N; Team Adrenal and Gonadal Pathophysiology, Inserm, U1239 NorDIC, University Rouen Normandie, Rouen, France.; Reproductive Biology Laboratory-CECOS, Rouen University Hospital, Rouen, France., Rives-Feraille A; Team Adrenal and Gonadal Pathophysiology, Inserm, U1239 NorDIC, University Rouen Normandie, Rouen, France.; Reproductive Biology Laboratory-CECOS, Rouen University Hospital, Rouen, France., Ray PF; Team Genetics Epigenetics and Therapies of Infertility (GETI), Institute for Advanced Biosciences, INSERM U 1209, CNRS UMR 5309, Univ. Grenoble Alpes, Grenoble, France.; CHU Grenoble Alpes, UM GI-DPI, Grenoble, France.

Publikováno v: Clinical genetics [Clin Genet] 2024 Feb; Vol. 105 (2), pp. 220-225. Date of Electronic Publication: 2023 Nov 11.

The [PSI+] prion and HSP104 modulate cytochrome c oxidase deficiency caused by deletion of COX12

Autor: Saini PK, Dawitz H, Aufschnaiter A, Thomas J, Amblard A, Stewart JB, Thierry-Mieg N, Ott M, Pierrel F

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::99f44e4eed281a8a012f0a527f793e39

Genetic causes of macrozoospermia and proposal for an optimized genetic diagnosis strategy based on sperm parameters.

Autor: Coudert A; Genetic Epigenetic and Therapies of Infertility Team, Institute for Advanced Biosciences, Inserm U 1209, CNRS UMR 5309, Université Grenoble Alpes, 38000, Grenoble, France; CHU Grenoble Alpes, UM GI-DPI, 38000, Grenoble, France; CHU Grenoble Alpes, UM de Génétique Chromosomique, 38000, Grenoble, France., Cazin C; Genetic Epigenetic and Therapies of Infertility Team, Institute for Advanced Biosciences, Inserm U 1209, CNRS UMR 5309, Université Grenoble Alpes, 38000, Grenoble, France; CHU Grenoble Alpes, UM GI-DPI, 38000, Grenoble, France., Amiri-Yekta A; Genetic Epigenetic and Therapies of Infertility Team, Institute for Advanced Biosciences, Inserm U 1209, CNRS UMR 5309, Université Grenoble Alpes, 38000, Grenoble, France; CHU Grenoble Alpes, UM GI-DPI, 38000, Grenoble, France; Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran., Fourati Ben Mustapha S; Polyclinique les Jasmins, Centre d'Aide Médicale à la Procréation, Centre Urbain Nord, 1003, Tunis, Tunisia., Zouari R; Polyclinique les Jasmins, Centre d'Aide Médicale à la Procréation, Centre Urbain Nord, 1003, Tunis, Tunisia., Bessonat J; CHU Grenobles Alpes, UF de Biologie de la Procréation, 38000, Grenoble, France., Zoghmar A; Reproduction Sciences and Surgery Clinique, Ibn Rochd, Constantine, Algeria., Clergeau A; CHU Caen, CECOS de Caen, Département de Biologie, Unité de Biologie de la Reproduction, 14033, Caen, France., Metzler-Guillemain C; APHM Hôpital La-Conception, Pôle Femmes-parents-enfants, Centre Clinico-biologique d'assistance Médicale à la Procréation-CECOS, 13385 Marseille, France; Aix-Marseille Univ, Inserm, MMG, U1251, 13385 Marseille Medical Genetics, 13385 Marseille, France., Triki C; Clinique Hannibal, Centre d'AMP, Les Berges du Lac, 1053, Tunis, Tunisia., Lejeune H; Reproductive Medicine Department, Hospices Civil de Lyon, Lyon, France., Sermondade N; Hôpital Jean Verdier, Université Sorbonne Paris Nord, Paris, France., Pipiras E; Hôpital Jean Verdier, Université Sorbonne Paris Nord, Paris, France., Prisant N; CHU de Pointe-à-Pitre/Abymes, Guadeloupe, France., Cedrin I; Service de Médecine de la Reproduction, CHU Jean Verdier, Paris, France., Koscinski I; CECOS Alsace, Biologie de la Reproduction, 67303, Schiltigheim, France., Keskes L; Faculté de Médecine de Sfax, Sfax, Tunisia., Lestrade F; CHR Metz-Thionville, Service d'Assistance Médicale à la Procréation, 57530, Ars-Laquenexy, France., Hesters L; Unit of Reproductive Biology, Antoine Béclère University Hospital, University Paris Sud, Clamart, Paris-Sud University, Le Kremlin Bicêtre, France., Rives N; Univ Rouen Normandie, Inserm U1239, NorDIC, Adrenal and Gonadal Pathophysiology, Reproductive Biology Laboratory-CECOS, Rouen University Hospital, 76031, Rouen Cedex, France., Dorphin B; CHAL Centre Hospitalier Alpes Léman, Centre AMP74, 74130, Contamine-sur-Arve, France., Guichet A; CHU Angers, Service de Génétique, 49933, Angers, INSERM U1083, France., Patrat C; Service de Biologie de la Reproduction - CECOS Hopital Cochin, 74014, Paris, France., Dulioust E; Service de Biologie de la Reproduction - CECOS Hopital Cochin, 74014, Paris, France., Feraille A; Univ Rouen Normandie, Inserm U1239, NorDIC, Adrenal and Gonadal Pathophysiology, Reproductive Biology Laboratory-CECOS, Rouen University Hospital, 76031, Rouen Cedex, France., Robert F; IRH Médicentre, Clinique du Val d'Ouest, 39 Chemin de la Vernique, 69 130, Ecully, France., Brouillet S; CHU Arnaud De Villeneuve, Biologie de la Reproduction, 34000, Montpellier, France., Morel F; Faculté de Médecine et des Sciences de la Santé, Université de Brest, EFS, UMR1078, GGB, Brest, France; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France., Perrin A; Faculté de Médecine et des Sciences de la Santé, Université de Brest, EFS, UMR1078, GGB, Brest, France; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France., Rougier N; CHRU Nîmes, Laboratoire d'Assistance Médicale à la Procréation, 30029, Nîmes, France., Bieth E; CHU Toulouse, Service de Génétique, 31059, Toulouse, France., Sorlin A; Laboratoire National de Santé, 1 Rue Louis Rech, L-3555, Dudelange, Luxembourg., Siffroi JP; Sorbonne Université, INSERM, UMRS_933, AP-HP, Hôpital Armand Trousseau, F-75012, Paris, France., Ben Khelifa M; Centre Fertillia, Clinique La Rose, 2035, Tunis, Tunisia., Boiterelle F; Reproductive Biology, Fertility Preservation, Andrology, CECOS, Poissy Hospital, 78300 Poissy, France; UVSQ, INRAE, BREED, Paris Saclay University, 78350 Jouy-en-Josas, France., Hennebicq S; Genetic Epigenetic and Therapies of Infertility Team, Institute for Advanced Biosciences, Inserm U 1209, CNRS UMR 5309, Université Grenoble Alpes, 38000, Grenoble, France; CHU Grenobles Alpes, UF de Biologie de la Procréation, 38000, Grenoble, France., Satre V; Genetic Epigenetic and Therapies of Infertility Team, Institute for Advanced Biosciences, Inserm U 1209, CNRS UMR 5309, Université Grenoble Alpes, 38000, Grenoble, France; CHU Grenoble Alpes, UM de Génétique Chromosomique, 38000, Grenoble, France., Arnoult C; Genetic Epigenetic and Therapies of Infertility Team, Institute for Advanced Biosciences, Inserm U 1209, CNRS UMR 5309, Université Grenoble Alpes, 38000, Grenoble, France., Coutton C; Genetic Epigenetic and Therapies of Infertility Team, Institute for Advanced Biosciences, Inserm U 1209, CNRS UMR 5309, Université Grenoble Alpes, 38000, Grenoble, France; CHU Grenoble Alpes, UM de Génétique Chromosomique, 38000, Grenoble, France., Barbotin AL; CHU Lille, Hôpital Jeanne De Flandre, Laboratoire de Biologie de la Reproduction-Spermiologie, 59037, Lille, France., Thierry-Mieg N; Univ. Grenoble Alpes, CNRS, TIMC-IMAG, F-38000, Grenoble, France., Kherraf ZE; Genetic Epigenetic and Therapies of Infertility Team, Institute for Advanced Biosciences, Inserm U 1209, CNRS UMR 5309, Université Grenoble Alpes, 38000, Grenoble, France; CHU Grenoble Alpes, UM GI-DPI, 38000, Grenoble, France., Ray PF; Genetic Epigenetic and Therapies of Infertility Team, Institute for Advanced Biosciences, Inserm U 1209, CNRS UMR 5309, Université Grenoble Alpes, 38000, Grenoble, France; CHU Grenoble Alpes, UM GI-DPI, 38000, Grenoble, France. Electronic address: pray@chu-grenoble.fr.

Publikováno v: Journal of genetics and genomics = Yi chuan xue bao [J Genet Genomics] 2023 Jul; Vol. 50 (7), pp. 536-540. Date of Electronic Publication: 2023 Apr 26.