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المؤلفون: Golec, Ewelina, Ekström, Alexander, Noga, Maciej, Omar-Hmeadi, Muhmmad, Lund, Per-Eric, Villoutreix, Bruno O, Krus, Ulrika, Wozniak, Katarzyna, Korsgren, Olle, Renström, Erik, Barg, Sebastian, King, Ben C, Blom, Anna M
المصدر: Proceedings of the National Academy of Sciences of the United States of America EXODIAB: Excellence of Diabetes Research in Sweden. 119(24)
مصطلحات موضوعية: Alternative Splicing, CD59 Antigens/genetics, Diabetes Mellitus/genetics, Humans, Insulin Secretion, Protein Isoforms/genetics, Medicin och hälsovetenskap, Klinisk medicin, Endokrinologi och diabetes, Medical and Health Sciences, Clinical Medicine, Endocrinology and Diabetes
URL الوصول: https://lup.lub.lu.se/record/4d6470f2-6d77-47f2-b366-aea95a54bc43
http://dx.doi.org/10.1073/pnas.2120083119 -
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4دورية أكاديمية
المؤلفون: Daniela Alves, Maria Eufémia Calmeiro, Carmo Macário, Rosa Silva
المصدر: Acta Médica Portuguesa, Vol 30, Iss 7-8, Pp 581-585 (2017)
مصطلحات موضوعية: Child, Deafness/genetics, Diabetes Mellitus/genetics, DNA, Mitochondrial/genetics, Mutation, Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
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5كتاب
المؤلفون: Dean, Laura, M.D.
المساهمون: McEntyre, Johanna., National Center for Biotechnology Information (U.S.), National Institute of Diabetes and Digestive and Kidney Diseases (U.S.)
مصطلحات موضوعية: Diabetes -- Genetic aspects., Diabetes Mellitus -- genetics.
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المؤلفون: Kanaka Durga Devi Gorrepati, Amin Ardestani, Aleksandra Dobrowolski, Kathrin Maedler, Zahra Azizi, Jaee Ghawali, Ting Yuan, Dae-Sik Lim, Blaz Lupse, Shirin Geravandi, Marina Ruhlandt, Shruti Naik, Karthika Annamalai, Anasua Pal
المصدر: Nature Communications, Vol 12, Iss 1, Pp 1-18 (2021)
Nature Communicationsمصطلحات موضوعية: Cell death, Cell biology, Cell Survival, Science, General Physics and Astronomy, Apoptosis, mTORC1, Mechanistic Target of Rapamycin Complex 1, Protein Serine-Threonine Kinases, Biology, Article, General Biochemistry, Genetics and Molecular Biology, law.invention, Diabetes mellitus genetics, Endocrinology, law, RNA interference, Cell Line, Tumor, Insulin-Secreting Cells, Autophagy, Diabetes Mellitus, Animals, Humans, ddc:610, Cells, Cultured, Mice, Knockout, Hippo signaling pathway, Multidisciplinary, Kinase, Tumor Suppressor Proteins, Endocrine system and metabolic diseases, General Chemistry, Rats, Mice, Inbred C57BL, Suppressor, RNA Interference, Signal Transduction
وصف الملف: application/octet-stream
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المؤلفون: Bowden, Donald W.Aff1_1650
المصدر: Encyclopedic Reference of Genomics and Proteomics in Molecular Medicine. :396-400
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المؤلفون: Isis Atallah, Dominique McCormick, Jean-Marc Good, Mohammed Barigou, Montserrat Fraga, Christine Sempoux, Andrea Superti-Furga, Robert K. Semple, Christel Tran
المصدر: Atallah, I, McCormick, D, Good, J-M, Barigou, M, Fraga, M, Sempoux, C, Superti-Furga, A, Semple, R K & Tran, C 2022, ' Partial lipodystrophy, severe dyslipidaemia and insulin resistant diabetes as early signs of Werner syndrome ', Journal of clinical lipidology . https://doi.org/10.1016/j.jacl.2022.06.004
Journal of clinical lipidology, vol. 16, no. 5, pp. 583-590مصطلحات موضوعية: Adult, Werner syndrome, Nutrition and Dietetics, Werner Syndrome Helicase, dyslipidaemia, RecQ Helicases, Lipodystrophy, diabetes, Endocrinology, Diabetes and Metabolism, Insulins, WRN, partial lipodystrophy, liver steatosis, helicase, Exodeoxyribonucleases, Internal Medicine, Diabetes Mellitus, Humans, Female, Exome, Werner Syndrome, Insulin Resistance, Cardiology and Cardiovascular Medicine, Dyslipidemias, Werner Syndrome/diagnosis, Werner Syndrome/genetics, Werner Syndrome/complications, Werner Syndrome Helicase/genetics, Werner Syndrome Helicase/metabolism, RecQ Helicases/genetics, RecQ Helicases/metabolism, Exodeoxyribonucleases/genetics, Exodeoxyribonucleases/metabolism, Diabetes Mellitus/diagnosis, Diabetes Mellitus/genetics, Insulin Resistance/genetics, Dyslipidemias/complications, Dyslipidemias/diagnosis, Dyslipidemias/genetics, Insulins/metabolism, Diabetes, Dyslipidaemia, Helicase, Liver steatosis, Partial lipodystrophy
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::513c014e12b40e46dff95666ae05afe3
https://www.pure.ed.ac.uk/ws/files/282649096/053022_Atallah.R1_clean.docx -
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المؤلفون: Chen Weng, Yan Li, Konstantin Leskov, Fulai Jin, Sisi Lai, Luxin Ke, Anniya Gu, Jian Cui, Haiyan Li, Jiajia Xi
المصدر: Nature metabolism
مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Cell fate determination, Biology, Article, Transcriptome, Diabetes mellitus genetics, Insulin-Secreting Cells, Physiology (medical), Insulin Secretion, Diabetes Mellitus, Internal Medicine, Transcriptional regulation, Humans, Cell Lineage, Enhancer, Gene, Embryonic Stem Cells, Regulation of gene expression, Gene Expression Regulation, Developmental, Cell Differentiation, Cell Biology, Embryonic stem cell, Cell biology, Glucose, Gene Knockdown Techniques, Transcription Factor HES-1, Transcription Factor 7-Like 2 Protein, Genes, Switch
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المؤلفون: Simeon I. Taylor, Toni I. Pollin
المصدر: Journal of Clinical Investigation. 130:6228-6231
مصطلحات موضوعية: 0301 basic medicine, Proband, Mutation, Microcephaly, business.industry, Insulin, medicine.medical_treatment, General Medicine, medicine.disease, Bioinformatics, medicine.disease_cause, 03 medical and health sciences, Diabetes mellitus genetics, 030104 developmental biology, 0302 clinical medicine, 030220 oncology & carcinogenesis, Diabetes mellitus, Unfolded protein response, medicine, business, Proinsulin
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