المؤلفون: Crystal Y. Chia, Pedro Madrigal, Simon L.I.J. Denil, Iker Martinez, Jose Garcia-Bernardo, Ranna El-Khairi, Mariya Chhatriwala, Maggie H. Shepherd, Andrew T. Hattersley, N. Ray Dunn, Ludovic Vallier

المصدر: Stem Cell Reports, Vol 12, Iss 1, Pp 57-70 (2019)

مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2213671118305228; https://doaj.org/toc/2213-6711

URL الوصول: https://doaj.org/article/85ca6c716044458090cd3f3f8849497e

المؤلفون: Ricardo Moreno Traspas, Tze Shin Teoh, Pui-Mun Wong, Michael Maier, Crystal Y. Chia, Kenneth Lay, Nur Ain Ali, Austin Larson, Fuad Al Mutairi, Nouriya Abbas Al-Sannaa, Eissa Ali Faqeih, Majid Alfadhel, Huma Arshad Cheema, Juliette Dupont, Stéphane Bézieau, Bertrand Isidor, Dorrain Yanwen Low, Yulan Wang, Grace Tan, Poh San Lai, Hugues Piloquet, Madeleine Joubert, Hulya Kayserili, Kimberly A. Kripps, Shareef A. Nahas, Eric P. Wartchow, Mikako Warren, Gandham SriLakshmi Bhavani, Majed Dasouki, Renata Sandoval, Elisa Carvalho, Luiza Ramos, Gilda Porta, Bin Wu, Harsha Prasada Lashkari, Badr AlSaleem, Raeda M. BaAbbad, Anabela Natália Abreu Ferrão, Vasiliki Karageorgou, Natalia Ordonez-Herrera, Suliman Khan, Peter Bauer, Benjamin Cogne, Aida M. Bertoli-Avella, Marie Vincent, Katta Mohan Girisha, Bruno Reversade

المساهمون: Center for Reproductive Medicine, ACS - Heart failure & arrhythmias, Amsterdam Reproduction & Development

المصدر: Nature genetics. Nature Publishing Group

مصطلحات موضوعية: Adult, Liver Cirrhosis, Liver, Tumor Suppressor Proteins, Hepatocytes, Genetics, Animals, Humans, RNA, Messenger, Syndrome, Child, Zebrafish

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::747ba8cc882c52da515268747f0c3985
https://doi.org/10.1038/s41588-022-01120-0

المؤلفون: Ludovic Vallier, Pedro Madrigal, Daniele Muraro, Katarzyna Tilgner, Mariya Chhatriwala, Sapna Vyas, Crystal Y. Chia, Evelyn Olszanowski, Ranna El-Khairi, Santiago A. Rodríguez-Seguí

المصدر: Stem Cell Reports

مصطلحات موضوعية: HNF1B, Organogenesis, Induced Pluripotent Stem Cells, Fluorescent Antibody Technique, β cell, Haploinsufficiency, Biology, Biochemistry, Models, Biological, Article, Immunophenotyping, Downregulation and upregulation, Insulin-Secreting Cells, monogenic, Genetics, medicine, Diabetes Mellitus, Humans, Cell Lineage, pancreas, Progenitor cell, Induced pluripotent stem cell, TEAD1, in vitro, Progenitor, Hepatocyte Nuclear Factor 1-beta, Gene Editing, iPSC, diabetes, Gene Expression Profiling, MODY5, Gene Expression Regulation, Developmental, Cell Differentiation, Cell Biology, differentiation, human induced pluripotent stem cells, medicine.anatomical_structure, Cancer research, Disease Susceptibility, CRISPR-Cas Systems, Pancreas, Biomarkers, Developmental Biology, Signal Transduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcf32caccae01f5fafe3235497665097
https://pubmed.ncbi.nlm.nih.gov/34450036

المؤلفون: Fatma Gumruk, Guoliang Chai, Bertrand Boisson, Natalia Ordonez, Ricardo Moreno Traspas, Maha S. Zaki, Stephanie Efthymiou, Dana Hasbini, Sze Hwee Seet, Thanh Thao Nguyen Ly, Jean-Laurent Casanova, Tadahiro Mitani, Michael Maier, Danielle Sng, Pelin Ozlem Simsek-Kiper, Davut Pehlivan, Hülya Kayserili, James R. Lupski, Nese Yarali, Kornelia Tripolszki, Abigail Loh, Hui Hui Wong, Robert J. Isfort, Joshua J. Coon, Sedat Işıkay, Frederic Bard, Ece Cepni, Evgenia Shishkova, Charles C. Bascom, Chao Liang, Afaf Alsubhi, Bruno Reversade, Nurten A. Akarsu, Tze Shin Teoh, Jarred W. Rensvold, Nima Rezaei, Soh Sok Keng, David J. Pagliarini, Serdar Ceylaner, Naser Gilani, Lena Ho, Fatima Megala Nathan, Siew Chin Choo, Hamdi Mbarek, Crystal Y. Chia, Wafaa Eyaid, Ozlem Arman-Bilir, Reza Maroofian, Simin Seyedpour, Kortessa Sotiropoulou, Joseph G. Gleeson, Peter Bauer, Arda Cetinkaya, Beril Talim, Fernanda L. Sirota, Sule Unal, Ghamar Taj Khotaei, Sebastian Maurer-Stroh, Franziska Paul, Shan Zhang, Elanur Yılmaz, Ayse Gurel, Shifeng Xue, Henry Houlden, Ajay S. Mathuru, Myriam Chaabouni, Aida M. Bertoli-Avella, Candice Lainé, Cheryl Yi-Pin Lee, Danai Georgiadou, Nur Ain Ali, Deniz Uğurlu Çi̇men

المساهمون: Graduate School, ACS - Diabetes & metabolism, APH - Mental Health, ARD - Amsterdam Reproduction and Development

المصدر: American journal of human genetics, 108(7), 1301-1317. Cell Press
Am J Hum Genet

مصطلحات موضوعية: Male, Proband, Mitochondrial Diseases, GBE1, C2ORF69, mitochondriopathy, inflammation, GBE1, encephalopathy, zebrafish, Elbracht-Işikay syndrome, lipase, glycogen, Mendelian genetics, Mitochondrion, Bioinformatics, Leukoencephalopathy, chemistry.chemical_compound, 0302 clinical medicine, lipase, Medicine, Zebrafish, Genetics (clinical), Genetics, 0303 health sciences, Glycogen, biology, encephalopathy, Biological Evolution, Pedigree, mitochondriopathy, glycogen, Encephalitis, Female, Elbracht-Işikay syndrome, Encephalopathy, Genes, Recessive, C2ORF69, Article, Cell Line, 03 medical and health sciences, Seizures, Glycogen branching enzyme, Animals, Humans, Gene, 030304 developmental biology, business.industry, Correction, Membrane Proteins, Regret, zebrafish, medicine.disease, Autoinflammatory Syndrome, biology.organism_classification, Human genetics, chemistry, inflammation, Mendelian genetics, biology.protein, CRISPR-Cas Systems, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c13d560c7d64faf2e637e92da4ba67e3
https://doi.org/10.1016/j.ajhg.2021.06.009

المؤلفون: Crystal Y, Chia, Pedro, Madrigal, Simon L I J, Denil, Iker, Martinez, Jose, Garcia-Bernardo, Ranna, El-Khairi, Mariya, Chhatriwala, Maggie H, Shepherd, Andrew T, Hattersley, N Ray, Dunn, Ludovic, Vallier

المصدر: Stem Cell Reports

مصطلحات موضوعية: Homeodomain Proteins, Pluripotent Stem Cells, endocrine system, Endoderm, pancreatic agenesis, Pancreatic Diseases, Cell Differentiation, Smad2 Protein, Article, GATA6, GATA6 Transcription Factor, Insulin-Secreting Cells, disease modeling, Trans-Activators, Humans, Cell Lineage, Gene Regulatory Networks, Smad3 Protein, human pluripotent stem cells, definitive endoderm, T-Box Domain Proteins, Pancreas, Cells, Cultured, Protein Binding

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::777b21e99457c84cc8a2862854265d04
https://pubmed.ncbi.nlm.nih.gov/30629940

المؤلفون: Crystal Y Chia, Udhaya Kumari, Patrick J. Casey

المصدر: Journal of Molecular Signaling
Journal of Molecular Signaling; Vol 9 (2014); Art. 6

مصطلحات موضوعية: G protein, medicine.medical_treatment, GNA13, GNA12, Biology, Biochemistry, NF-κB, Metastasis, chemistry.chemical_compound, G protein, GNA12, GNA13, Metastasis, Cytokine, NF-κB, Transcription, Heterotrimeric G protein, medicine, Cytokine, Molecular Biology, Gene knockdown, Cell Biology, medicine.disease, chemistry, Immunology, Cancer cell, Cancer research, Transcription, Chromatin immunoprecipitation, Research Article

وصف الملف: application/xml; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7118f904076d1ea0cfff1900a488ca39
https://doi.org/10.1186/1750-2187-9-6