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المؤلفون: Jun Ito-Kobayashi, Choka Azuma, Yuji Tezuka, Mayumi Morimoto, Masanori Iwanishi, Toru Kusakabe, Ken Ebihara, Yukako Yamamoto, Miki Washiyama
المصدر: Diabetes Research and Clinical Practice. 152:79-87
مصطلحات موضوعية: Adult, Heterozygote, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Mutation, Missense, 030209 endocrinology & metabolism, Nuclear Family, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Insulin resistance, Antigens, CD, Internal medicine, Internal Medicine, medicine, Humans, Missense mutation, Genetic Testing, 030212 general & internal medicine, Child, Metabolic Syndrome, biology, business.industry, Leptin, Partial Lipodystrophy, General Medicine, Middle Aged, medicine.disease, Familial partial lipodystrophy, Polycystic ovary, Receptor, Insulin, Lipodystrophy, Familial Partial, Pedigree, Insulin receptor, Phenotype, Case-Control Studies, biology.protein, Female, Insulin Resistance, Lipodystrophy, business, Polycystic Ovary Syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b73873b56cafb381e3cd0a7e08bd500Test
https://doi.org/10.1016/j.diabres.2019.04.034Test -
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المؤلفون: Iram Hussain, Nivedita Patni, Abhimanyu Garg
المصدر: Pathology. 51:202-212
مصطلحات موضوعية: Risk, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Lipodystrophy, Article, Pathology and Forensic Medicine, Acquired Partial Lipodystrophy, Genetic Heterogeneity, 03 medical and health sciences, Metreleptin, chemistry.chemical_compound, 0302 clinical medicine, Insulin resistance, Lipodystrophy, Congenital Generalized, Diabetes mellitus, Prevalence, medicine, Humans, Dyslipidemias, business.industry, Atherosclerotic cardiovascular disease, nutritional and metabolic diseases, Atherosclerosis, medicine.disease, Familial partial lipodystrophy, Lipodystrophy, Familial Partial, 030104 developmental biology, chemistry, Cardiovascular Diseases, 030220 oncology & carcinogenesis, Steatosis, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efc804a45d74948a703202cd9e5ece80Test
https://doi.org/10.1016/j.pathol.2018.11.004Test -
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المؤلفون: Baris Akinci, Fernando Corvillo
المصدر: Molecular Immunology. 112:223-232
مصطلحات موضوعية: 0301 basic medicine, Lipodystrophy, Immunology, Inflammation, Antigen-Antibody Complex, Acquired Partial Lipodystrophy, 03 medical and health sciences, 0302 clinical medicine, Immune system, medicine, Animals, Humans, Molecular Biology, Innate immune system, business.industry, Complement C3, medicine.disease, Immunity, Innate, Complement (complexity), Complement system, 030104 developmental biology, Adipose Tissue, Alternative complement pathway, medicine.symptom, business, 030215 immunology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a61e493ac78a8ff8f1dae2512baff4b0Test
https://doi.org/10.1016/j.molimm.2019.05.011Test -
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المؤلفون: Kaela Drzewiecki, Jennifer Batisti, Elif A. Oral, Pramod K. Mistry, Angela DeLisle, Allen E. Bale, Daniel J. Dykas, Xuchen Zhang, David N. Assis, Dhanpat Jain, Marina Silveira, Silvia Vilarinho, Aaron Hakim
المصدر: Journal of Hepatology. 70:1214-1221
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Hepatology, business.industry, Disease, medicine.disease, Chronic liver disease, Familial partial lipodystrophy, 03 medical and health sciences, Liver disease, 030104 developmental biology, 0302 clinical medicine, medicine, Etiology, 030211 gastroenterology & hepatology, Steatohepatitis, business, Exome, Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5111a44e5cac771f18ace36bb62f2f46Test
https://doi.org/10.1016/j.jhep.2019.01.036Test -
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المؤلفون: Hiroaki Mitsuhashi, Chojiro Kojima, Chie Matsuda, Siu Yuen Chan, Kazuhiro Mio, Yukiko K. Hayashi, Muneyo Mio, Toshihiko Sugiki
المصدر: Biochemical and Biophysical Research Communications. 512:22-28
مصطلحات موضوعية: Models, Molecular, 0301 basic medicine, Mutant, Biophysics, In Vitro Techniques, Biochemistry, Biophysical Phenomena, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Microscopy, Electron, Transmission, Protein Domains, medicine, Humans, Emery–Dreifuss muscular dystrophy, Muscular dystrophy, Molecular Biology, Alanine, Protein Stability, Chemistry, DNA, Cell Biology, Lamin Type A, medicine.disease, Familial partial lipodystrophy, Muscular Dystrophy, Emery-Dreifuss, Peptide Fragments, Recombinant Proteins, Lipodystrophy, Familial Partial, Chromatin, Cell biology, 030104 developmental biology, Amino Acid Substitution, 030220 oncology & carcinogenesis, Mutation, Lamin
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3abffe7f114083628e213ee9150197dTest
https://doi.org/10.1016/j.bbrc.2019.02.138Test -
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المؤلفون: Xin Tong, Lei Yin, Ram K. Menon, Colin L. Stewart, Min-Jung Park, Makayla J. Brunt, M. Bishr Omary, Raymond Kwan, Maria Brzozowski, Graham F. Brady, Sujith V.W. Weerasinghe, Hope Martin
المصدر: Cellular and Molecular Gastroenterology and Hepatology
Cellular and Molecular Gastroenterology and Hepatology, Vol 4, Iss 3, Pp 365-383 (2017)مصطلحات موضوعية: WT, wild type, 0301 basic medicine, Premature aging, HFD, high-fat diet, Stat, signal transducer and activator of transcription, Nonalcoholic Fatty Liver Disease, Lipodystrophy, Laminopathy, Growth Hormone Signaling, % liver weight, liver percentage of body mass, PBS, phosphate-buffered saline, Igf1, insulin-like growth factor 1, Biology, FPLD2, Dunnigan familial partial lipodystrophy, Het, heterozygous, Erk, extracellular signal–regulated kinase, LMNA, 03 medical and health sciences, Hepatocyte homeostasis, Jak2, Janus kinase 2, medicine, lcsh:RC799-869, STAT5, Original Research, KO, knockout, Hepatology, ND, normal diet, Gastroenterology, medicine.disease, Fibrosis, GH, growth hormone, 3. Good health, Cell biology, 030104 developmental biology, Cancer research, biology.protein, qPCR, quantitative polymerase chain reaction, Nuclear lamina, lcsh:Diseases of the digestive system. Gastroenterology, NAFLD, nonalcoholic fatty liver disease, Steatohepatitis, Lamin
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b60446073e37b69f0d71e80d0e0991ccTest
https://doi.org/10.1016/j.jcmgh.2017.06.005Test -
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المؤلفون: Nazanene H. Esfandiari, Charles Burant, Angela Subauste, Christos S. Mantzoros, Nevin Ajluni, Adam H. Neidert, Baris Akinci, Rasimcan Meral, Jeffrey W. Innis, Rita Hench, Thomas L. Chenevert, Akin Eraslan, Amit R. Rupani, Hero K. Hussain, Diana Rus, Hari S. Conjeevaram, Elif A. Oral, Marwan K. Tayeh, Barbara J. McKenna
المصدر: Med (N Y)
مصطلحات موضوعية: Leptin, Male, medicine.medical_specialty, Leptin Deficiency, Lipodystrophy, medicine.diagnostic_test, business.industry, Partial Lipodystrophy, General Medicine, medicine.disease, Gastroenterology, Article, Metreleptin, chemistry.chemical_compound, Insulin resistance, chemistry, Non-alcoholic Fatty Liver Disease, Liver biopsy, Internal medicine, medicine, Humans, Steatosis, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10bf7d5cf65cc031956ce66b31757159Test
https://doi.org/10.1016/j.medj.2021.04.001Test -
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المؤلفون: David B. Savage, Marjoleine F. Broekema, H. Monajemi, Eric Kalkhoven
المساهمون: Savage, David [0000-0002-7857-7032], Apollo - University of Cambridge Repository
المصدر: Biochimica et Biophysica Acta-Molecular and Cell Biology of Lipids, 1864(5), 715. Elsevier
مصطلحات موضوعية: 0301 basic medicine, Lipodystrophy, Adipose tissue, Biology, Congenital generalized lipodystrophy, 03 medical and health sciences, 0302 clinical medicine, medicine, Transcriptional regulation, Animals, Humans, Allele, Gene, Molecular Biology, Genetics, Cell Biology, medicine.disease, Familial partial lipodystrophy, Phenotype, Lipodystrophy, Familial Partial, PPAR gamma, 030104 developmental biology, Adipose Tissue, Gene Expression Regulation, Genomic and environmental context, Mutation, PPARG, Gene-Environment Interaction, 030217 neurology & neurosurgery
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; application/pdf; image/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14282a1d454b72c8e4ff0399806301ebTest
https://www.repository.cam.ac.uk/handle/1810/289460Test -
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المؤلفون: Ilenia Zara, Magdalena Zoledziewska, Chris Jones, Laura Crisponi, Josh Smith, Riccardo Berutti, Deborah A. Nickerson, Roberto Cusano, Serena Sanna, Manuela Oppo, Decio Cerimele, Maria A. Montesu, Francesco Cucca, Andrea Angius, M. Valentini, David S. Hanna, Rosanna Satta, Frederic Reinier, Francesca Cottoni
المصدر: Metabolism. 64:1530-1540
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Lipodystrophy, POLD1, Endocrinology, Diabetes and Metabolism, Context (language use), Syndrome, Deafness, Biology, medicine.disease, Familial partial lipodystrophy, Hypoplasia, Pedigree, Congenital generalized lipodystrophy, Endocrinology, Internal medicine, medicine, Humans, Female, Mandibular Diseases, Exome sequencing, Werner syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b44d58b5053457bc377f9a55691d98f8Test
https://doi.org/10.1016/j.metabol.2015.07.022Test -
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المؤلفون: Rob Halter, Brant Hubbard, Elif Oral, Louis O'Dea, Michael Stevenson, Nandini Hadker, Caroline Crowson
المصدر: Journal of Clinical Lipidology. 14:590
مصطلحات موضوعية: Gerontology, Nutrition and Dietetics, Quality of life (healthcare), business.industry, Endocrinology, Diabetes and Metabolism, Perspective (graphical), Internal Medicine, Medicine, Cardiology and Cardiovascular Medicine, business, Familial partial lipodystrophy, medicine.disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7f33a4b873ddbc8b350407d6803ca760Test
https://doi.org/10.1016/j.jacl.2020.05.072Test