المؤلفون: Sahar Elouej, Karim Harhouri, Morgane Le Mao, Genevieve Baujat, Sheela Nampoothiri, Hϋlya Kayserili, Nihal Al Menabawy, Laila Selim, Arianne Llamos Paneque, Christian Kubisch, Davor Lessel, Robert Rubinsztajn, Chayki Charar, Catherine Bartoli, Coraline Airault, Jean-François Deleuze, Agnes Rötig, Peter Bauer, Catarina Pereira, Abigail Loh, Nathalie Escande-Beillard, Antoine Muchir, Lisa Martino, Yosef Gruenbaum, Song-Hua Lee, Philippe Manivet, Guy Lenaers, Bruno Reversade, Nicolas Lévy, Annachiara De Sandre-Giovannoli

المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/21379d0d1eab48b298abdd7e9cc58e7d

المؤلفون: Sahar Elouej, Karim Harhouri, Morgane Le Mao, Genevieve Baujat, Sheela Nampoothiri, Hϋlya Kayserili, Nihal Al Menabawy, Laila Selim, Arianne Llamos Paneque, Christian Kubisch, Davor Lessel, Robert Rubinsztajn, Chayki Charar, Catherine Bartoli, Coraline Airault, Jean-François Deleuze, Agnes Rötig, Peter Bauer, Catarina Pereira, Abigail Loh, Nathalie Escande-Beillard, Antoine Muchir, Lisa Martino, Yosef Gruenbaum, Song-Hua Lee, Philippe Manivet, Guy Lenaers, Bruno Reversade, Nicolas Lévy, Annachiara De Sandre-Giovannoli

المصدر: Nature Communications, Vol 11, Iss 1, Pp 1-1 (2020)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/153909fa41324897863611c6fc386797

المؤلفون: Ariana Kariminejad, Fariba Afroozan, Bita Bozorgmehr, Alireza Ghanadan, Susan Akbaroghli, Hamid Reza Khorram Khorshid, Faezeh Mojahedi, Aria Setoodeh, Abigail Loh, Yu Xuan Tan, Nathalie Escande-Beillard, Fransiska Malfait, Bruno Reversade, Thatjana Gardeitchik, Eva Morava

المصدر: International Journal of Molecular Sciences, Vol 18, Iss 3, p 635 (2017)

مصطلحات موضوعية: autosomal recessive cutis laxa 2A, autosomal recessive cutis laxa 2B, geroderma osteodysplastica, Pyrroline-5-carboxylate reductase 1 (PYCR1), ATPase, H+ transporting lysosomal V0 subunit A2 (ATP6V0A2), GOLGIN, RAB6-INTERACTING (GORAB), Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: http://www.mdpi.com/1422-0067/18/3/635; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/4c166db2fb024c9bbcbc1fe5b7799b2c

المؤلفون: Kortessa Sotiropoulou, Saniye Yumlu, Tomoko Hirano, Michael Maier, Abigail Loh, Peh Fern Ong, Onn Siong Yim, Chunping Liu, Emmanuel Vial, Umut Altunoğlu, Sheela Nampoothiri, Deepthi de Silva, Björn Fischer-Zirnsak, Hülya Kayserili, Poh San Lai, Oliver Dreesen, Kenji Kabashima, Uwe Kornak, Nathalie Escande-Beillard, Bruno Reversade

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::956ce1738a7036d6b9f3b9ce9250b07e
https://doi.org/10.1101/2023.05.24.23289766

المؤلفون: Samantha WONG, Yu Xuan TAN, Kiat Yi TAN, Abigail Loh, Zainab AZIZ, Engin Özkan, Hulya Kayserili, Nathalie Escande-Beillard, Bruno REVERSADE

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c37f3b22fa08bc570bbb0ddf4df099cc
https://doi.org/10.15252/rc.2022383667

المؤلفون: Hyuk Nam Kwon, Kristen Kurtzeborn, Vladislav Iaroshenko, Xing Jin, Abigail Loh, Nathalie Escande-Beillard, Bruno Reversade, Sunghyouk Park, Satu Kuure

المساهمون: Veterinary Biosciences, Mitochondrial Morphogenesis, Kidney development, Helsinki Institute of Life Science HiLIFE, STEMM - Stem Cells and Metabolism Research Program, Helsinki Institute of Life Science HiLIFE, Infra, Biosciences, Reversade, Bruno, Kwon, H.N., Kurtzeborn, K., Laroshenko, V., Jin, X., Loh, A., Escande-Beillard, N., Park, S., Kuure, S., School of Medicine

المصدر: Development

مصطلحات موضوعية: Proline, MAP Kinase Signaling System, Stem Cells, Organogenesis, Cell Differentiation, Nephrons, Tissue-specific progenitors, Development, Kidney, Pycr1/Pycr2, Differentiation, Intracellular signaling cascades, Metabolism, Receptor tyrosine kinase signaling, Self-renewal, Mice, Developmental biology, Animals, 1182 Biochemistry, cell and molecular biology, Amino Acids, Oxidoreductases, Pyruvates, Molecular Biology, Developmental Biology

وصف الملف: pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e99ca7d4d51f452f2e53eaea760b9ddc
http://hdl.handle.net/10138/355227

المؤلفون: Samantha Wong, Yu Xuan Tan, Kiat Yi Tan, Abigail Loh, Zainab Aziz, Engin Özkan, Hülya Kayserili, Nathalie Escande-Beillard, Bruno Reversade

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b6cf336e1b700f6342947576956f971c
https://doi.org/10.1101/2022.02.20.22271260

المؤلفون: Qian Yi Lee, Michael Steckel, Pierce K. H. Chow, Timothy Shen Wai Ho, Abigail Loh, Han Chong Toh, Sylvia Gruenewald, Bruno Reversade, Nathalie Escande-Beillard, Zhaobing Ding, Weiping Han, Russell Ericksen, Simon Denil, Andrea Haegebarth

المصدر: Journal of Hepatology. 72:725-735

مصطلحات موضوعية: Male, 0301 basic medicine, Carcinoma, Hepatocellular, Proline, Carcinogenesis, Mice, Nude, Mice, SCID, Biology, Transfection, medicine.disease_cause, Mice, 03 medical and health sciences, Liver Neoplasms, Experimental, 0302 clinical medicine, Downregulation and upregulation, medicine, Animals, HaCaT Cells, Humans, Diethylnitrosamine, Cell Proliferation, Mice, Inbred BALB C, Gene knockdown, Hepatology, Cell growth, Liver Neoplasms, Cancer, Hep G2 Cells, Aldehyde Dehydrogenase, medicine.disease, Xenograft Model Antitumor Assays, Rats, Tumor Burden, Gene Expression Regulation, Neoplastic, Mice, Inbred C57BL, Metabolic pathway, HEK293 Cells, 030104 developmental biology, Gene Knockdown Techniques, Cancer cell, Cancer research, Pyrroline Carboxylate Reductases, 030211 gastroenterology & hepatology, Transcriptome, Liver cancer, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ed89057a427a93ad49b64e17bd01f81
https://doi.org/10.1016/j.jhep.2019.10.026

المؤلفون: Hyuk Nam Kwon, Kristen Kurtzeborn, Xing Jin, Abigail Loh, Nathalie Escande-Beillard, Bruno Reversade, Sunghyouk Park, Satu Kuure

مصطلحات موضوعية: MAPK/ERK pathway, 0303 health sciences, Kidney, urogenital system, Kinase, 030232 urology & nephrology, Nephron, Biology, Cell biology, 03 medical and health sciences, Metabolic pathway, 0302 clinical medicine, medicine.anatomical_structure, medicine, Glycolysis, Protein kinase A, 030304 developmental biology, Progenitor

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a2686581673a866b392c727012963cf2
https://doi.org/10.1101/2021.09.27.461969

المؤلفون: Christian Kubisch, Robert Rubinsztajn, Arianne Llamos Paneque, Philippe Manivet, Catarina Pereira, Laila Selim, Nathalie Escande-Beillard, Abigail Loh, Peter Bauer, Catherine Bartoli, Song-Hua Lee, Morgane Le Mao, Hϋlya Kayserili, Coraline Airault, Nihal M. Al Menabawy, Lisa Martino, Yosef Gruenbaum, Guy Lenaers, Antoine Muchir, Agnès Rötig, Annachiara De Sandre-Giovannoli, Nicolas Lévy, Sahar Elouej, Sheela Nampoothiri, Chayki Charar, Jean-François Deleuze, Karim Harhouri, Bruno Reversade, Davor Lessel, Geneviève Baujat

المساهمون: ACS - Heart failure & arrhythmias, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), MitoVasc - Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Amrita Institute of Medical Sciences and Research Center, Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Koç University, Cairo University Children Hospital, Medical Genetics Service Specialties Hospital, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] (UKE), Hôpital Necker, The Hebrew University of Jerusalem (HUJ), Centre National de Recherche en Génomique Humaine (CNRGH), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), CENTOGENE AG, Institute of Medical Biology A*STAR, Sorbonne Université (SU), CeleScreen SAS, Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de ressources biologiques Tissus ADN Cellules [Hôpital de la Timone - APHM] (CRB TAC), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), ANR-11-IDEX-0001,Amidex,INITIATIVE D'EXCELLENCE AIX MARSEILLE UNIVERSITE(2011), ANR-10-LABX-0013,GENMED,Medical Genomics(2010), ANR-10-INBS-0004,France-BioImaging,Développment d'une infrastructure française distribuée coordonnée(2010), LENAERS, Guy, INITIATIVE D'EXCELLENCE AIX MARSEILLE UNIVERSITE - - Amidex2011 - ANR-11-IDEX-0001 - IDEX - VALID, Medical Genomics - - GENMED2010 - ANR-10-LABX-0013 - LABX - VALID, Développment d'une infrastructure française distribuée coordonnée - - France-BioImaging2010 - ANR-10-INBS-0004 - INBS - VALID, Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945), Escande-Beillard, Nathalie, Reversade, Bruno, Elouej,Sahar, Harhouri, Karim, Le Mao, Morgane, Baujat, Genevieve, Nampoothiri, Sheela, Menabawy, Nihal Al, Selim, Laila, Paneque, Arianne Llamos, Kubisch, Christian, Lessel, Davor, Rubinsztajn,Robert, Charar, Chayki, Bartoli, Catherine, Airault, Coraline, Deleuze, Jean-François, Rötig, Agnes, Bauer, Peter, Pereira, Catarina, Loh, Abigail, Muchir, Antoine, Martino, Lisa, Gruenbaum, Yosef, Lee, Song-Hua, Manivet, Philippe, Lenaers, Guy, Lévy, Nicolas, De Sandre-Giovannoli, Annachiara, School of Medicine

المصدر: Nature communications, 11(1):4589. Nature Publishing Group
Nature Communications
Nature Communications, 2020, 11 (1), ⟨10.1038/s41467-020-18146-9⟩
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Nature Communications, Nature Publishing Group, 2020, 11 (1), ⟨10.1038/s41467-020-18146-9⟩

مصطلحات موضوعية: 0301 basic medicine, Premature aging, Senescence, Pathology, medicine.medical_specialty, endocrine system, animal structures, Science, [SDV]Life Sciences [q-bio], General Physics and Astronomy, Apoptosis, General Biochemistry, Genetics and Molecular Biology, Progeroid syndromes, Article, Nuclear envelope, LMNA, 03 medical and health sciences, 0302 clinical medicine, Mitophagy, Genetics research, medicine, lcsh:Science, Multidisciplinary, business.industry, Glomerulosclerosis, General Chemistry, Energy metabolism, medicine.disease, 3. Good health, Mandibuloacral dysplasia, [SDV] Life Sciences [q-bio], 030104 developmental biology, Mitochondrial Membrane Protein, Next-generation sequencing, Medicine, lcsh:Q, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf; pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06373a33d6f632cebef13745fddc34b8
https://pure.amc.nl/en/publications/loss-of-mtx2-causes-mandibuloacral-dysplasia-and-links-mitochondrial-dysfunction-to-altered-nuclear-morphology(60508de2-5a6c-49eb-9d5b-9742fc986ced).html