المؤلفون: Algieri, Cristina, Bernardini, Chiara, Trombetti, Fabiana, Schena, Elisa, Zannoni, Augusta, Forni, Monica, Nesci, Salvatore

المساهمون: Algieri, Cristina, Bernardini, Chiara, Trombetti, Fabiana, Schena, Elisa, Zannoni, Augusta, Forni, Monica, Nesci, Salvatore

مصطلحات موضوعية: ATP production, fibroblast, glycolysi, mitochondrial oxidative metabolism, pre-adipocyte, type-2 familial partial lipodystrophy, Adenosine Triphosphate, Adipose Tissue, Brown, Energy Metabolism, Human, Lamin Type A, Lipodystrophy, Familial Partial

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35955791; info:eu-repo/semantics/altIdentifier/wos/WOS:000838979700001; volume:23; issue:15; firstpage:1; lastpage:10; numberofpages:10; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/11585/893388Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85136343146; https://www.mdpi.com/1422-0067/23/15/8659/htmTest

الإتاحة: https://doi.org/10.3390/ijms23158659Test
https://hdl.handle.net/11585/893388Test
https://www.mdpi.com/1422-0067/23/15/8659/htmTest

المؤلفون: Zhong, Zhu Xuan, Harris, Julie, Wilber, Ellen, Gorman, Samantha, Savage, David B, O'Rahilly, Stephen, Stears, Anna, Williams, Rachel M

المساهمون: Williams, Rachel M [0000-0003-0426-9632], Apollo - University of Cambridge Repository

المصدر: Clinical Endocrinology. 97:755-762

مصطلحات موضوعية: lipodystrophy, Adolescent, laminopathies, Endocrinology, Diabetes and Metabolism, Subcutaneous Fat, Lamin Type A, metabolic diseases, Lipodystrophy, Familial Partial, Endocrinology, children, Diabetes Mellitus, Type 2, lipid metabolism disorders, insulin resistance, familial partial lipodystrophy, Humans, Female, Child, Retrospective Studies

وصف الملف: application/pdf; text/xml

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73ffdb2ebf986c5f4cab60250a6cbabfTest
https://doi.org/10.1111/cen.14806Test

المؤلفون: Cristina Algieri, Chiara Bernardini, Fabiana Trombetti, Elisa Schena, Augusta Zannoni, Monica Forni, Salvatore Nesci

المساهمون: Algieri, Cristina, Bernardini, Chiara, Trombetti, Fabiana, Schena, Elisa, Zannoni, Augusta, Forni, Monica, Nesci, Salvatore

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 15; Pages: 8659

مصطلحات موضوعية: Organic Chemistry, General Medicine, type-2 familial partial lipodystrophy, Fibroblasts, Lamin Type A, Catalysis, Computer Science Applications, Lipodystrophy, Familial Partial, Inorganic Chemistry, glycolysi, ATP production, Adenosine Triphosphate, Adipose Tissue, Brown, pre-adipocyte, Humans, Fibroblast, mitochondrial oxidative metabolism, glycolysis, fibroblasts, pre-adipocytes, Physical and Theoretical Chemistry, Energy Metabolism, Molecular Biology, Spectroscopy, Human

وصف الملف: STAMPA; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3ec137c1e9296f3e18a5961464e405fTest
https://hdl.handle.net/11585/893388Test

المؤلفون: Robert J. Macielak, Daniel L. Price, Kyriakos Chatzopoulos, Lisa A. Schimmenti, Stephanie J. Youssef

المصدر: Annals of Otology, Rhinology & Laryngology. 129:1243-1246

مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Esophageal Neoplasms, Laryngectomy, Laminopathy, LMNA, Fatal Outcome, Tracheostomy, Pharyngectomy, Humans, Medicine, Gastrostomy, Hypopharyngeal Neoplasms, Squamous Cell Carcinoma of Head and Neck, business.industry, Siblings, Head and neck cancer, Hypopharyngeal cancer, Chemoradiotherapy, General Medicine, Lamin Type A, medicine.disease, Familial partial lipodystrophy, Lipodystrophy, Familial Partial, Otorhinolaryngology, Hypopharyngeal squamous cell carcinoma, Female, Esophageal Squamous Cell Carcinoma, Subcutaneous adipose tissue, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b964fe5f66f0ceefb0d1fa6e84762154Test
https://doi.org/10.1177/0003489420933645Test

المؤلفون: Chandna Vasandani, Rebecca J. Brown, Xilong Li, Beverley Adams-Huet, Abhimanyu Garg, Hilal Sekizkardes

المصدر: J Clin Endocrinol Metab

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Percentile, Pediatrics, National Health and Nutrition Examination Survey, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, 030209 endocrinology & metabolism, Context (language use), Biochemistry, LMNA, 03 medical and health sciences, Absorptiometry, Photon, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Humans, Clinical Research Articles, Dual-energy X-ray absorptiometry, medicine.diagnostic_test, business.industry, Biochemistry (medical), Middle Aged, Anthropometry, Lamin Type A, Nutrition Surveys, Familial partial lipodystrophy, medicine.disease, Lipodystrophy, Familial Partial, Skinfold Thickness, 030104 developmental biology, medicine.anatomical_structure, Adipose Tissue, Body Composition, Upper limb, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1112420241aa104f68ffa7dfca72708Test
https://doi.org/10.1210/clinem/dgaa137Test

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

المؤلفون: Banu Sarer Yurekli, Nicole M. Bhave, Marwan K. Tayeh, Hakan Oral, Ebru Özpelit, Ilgin Yildirim Simsir, Elif A. Oral, Zeynep Şıklar, José Jalife, Rita Hench, Ramazan Gen, Abdelwahab Jalal Eldin, Andre Monteiro da Rocha, Baris Akinci, Rasimcan Meral, Adam H. Neidert, Nilufer Ozdemir Kutbay, Suleyman Cem Adiyaman, Jeffrey W. Innis

المساهمون: Ege Üniversitesi

المصدر: Clin Endocrinol (Oxf)

مصطلحات موضوعية: Adult, medicine.medical_specialty, lipodystrophy, Adolescent, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Induced Pluripotent Stem Cells, LMNA, 030209 endocrinology & metabolism, Laminopathy, arrhythmia, Article, Afterdepolarization, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Endocrinology, Internal medicine, medicine, Humans, atrial fibrillation, Aged, Retrospective Studies, conduction disease, business.industry, Retrospective cohort study, Atrial fibrillation, Middle Aged, medicine.disease, Familial partial lipodystrophy, Lamin Type A, Lipodystrophy, Familial Partial, Phenotype, 030220 oncology & carcinogenesis, Mutation, Cardiology, cardiovascular system, Female, Lipodystrophy, Cardiac monitoring, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12f6e9c30dacf5be14fe58041d909199Test
https://hdl.handle.net/11454/69637Test

المؤلفون: Elena Ignatieva, Margarita Y Komarova, Anna Kostareva, O. A. Ivanova, Renata I. Dmitrieva, Alexey Sergushichev, N V Khromova, Dmitrii E. Polev

المصدر: Genes, Vol 11, Iss 1057, p 1057 (2020)
Genes
Volume 11
Issue 9

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, lcsh:QH426-470, Cellular differentiation, Biology, transcriptome sequencing, Muscle Development, bioenergetics, Article, Myoblasts, LMNA, Mice, 03 medical and health sciences, mitochondrial respiration, muscle dystrophies, Genetics, medicine, Animals, Humans, Myocyte, Muscular dystrophy, Muscle, Skeletal, Genetics (clinical), LMNA G232E/R482L mutations, 030102 biochemistry & molecular biology, integumentary system, Myogenesis, laminopathies, Skeletal muscle, nutritional and metabolic diseases, Cell Differentiation, glycolysis, Lamin Type A, Familial partial lipodystrophy, medicine.disease, Cell biology, lcsh:Genetics, HEK293 Cells, 030104 developmental biology, medicine.anatomical_structure, Mutation, embryonic structures, myogenesis, Energy Metabolism, Transcriptome, C2C12

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::535ea7c5d0f328af3275876eb7e48887Test
https://www.mdpi.com/2073-4425/11/9/1057Test

المؤلفون: Giuseppa Padova, Dora Sudano, Federica Vinciguerra, Antonino Vallone, Sabrina Prudente, Laura Sciacca, Roberto Baratta, Vincenzo Trischitta, Lucia Frittitta, Emanuele Bellacchio

المصدر: Acta diabetologica. 57(5)

مصطلحات موضوعية: Male, Peroxisome proliferator-activated receptor gamma, Autosomal dominant diseases, Endocrinology, Diabetes and Metabolism, Mutation, Missense, 030209 endocrinology & metabolism, 030204 cardiovascular system & hematology, Biology, medicine.disease_cause, Severe insulin resistance, LMNA, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Endocrinology, Monogenic diabetes, Loss of Function Mutation, Aberrant adipogenesis, Internal Medicine, medicine, Missense mutation, Thiazolinediones, Humans, Loss function, Genes, Dominant, Genetics, Sanger sequencing, Mutation, General Medicine, Middle Aged, Familial partial lipodystrophy, medicine.disease, Lamin Type A, Lipodystrophy, Familial Partial, Pedigree, PPAR gamma, symbols, Female, Haploinsufficiency

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::914fd867b7523f6eed3f0e0fddf18469Test
https://pubmed.ncbi.nlm.nih.gov/31863320Test

المؤلفون: Jun Ito-Kobayashi, Masanori Iwanishi, Miki Washiyama, Toru Kusakabe, Ken Ebihara

المصدر: Internal medicine (Tokyo, Japan). 57(16)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, 030209 endocrinology & metabolism, Gastroenterology, Ambulatory Care Facilities, LMNA, Diabetes Complications, 03 medical and health sciences, 0302 clinical medicine, Insulin resistance, Absorptiometry, Photon, Asian People, Japan, Diabetes mellitus, Internal medicine, Internal Medicine, medicine, Outpatient clinic, Humans, Genetic Testing, Family history, Aged, business.industry, Partial Lipodystrophy, General Medicine, Middle Aged, medicine.disease, Familial partial lipodystrophy, Lamin Type A, Lipodystrophy, Familial Partial, PPAR gamma, Skinfold Thickness, 030104 developmental biology, Phenotype, Mutation, Female, Lipodystrophy, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd41956a213562c5047b4d71baf56e3eTest
https://pubmed.ncbi.nlm.nih.gov/29607946Test