Temat: "LIPODYSTROPHY" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa.
Autorzy:: Al Yaarubi S; Oman Medical Specialty Board, Muscat, Oman. .
Alsagheir A; Pediatrics Department, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Al Shidhani A; Department of Child Health, Division of Endocrinology, Sultan Qaboos University Hospital, Al-Khod, Muscat, Oman.
Alzelaye S; Center of Endocrinology and Diabetes Mellitus, Al-Qunfudah General Hospital, Makkah Province, Al-Qunfudah, Saudi Arabia.
Alghazir N; Department of Pediatrics, Faculty of Medicine, Tripoli University Hospital, University of Tripoli, Tripoli, Libya.
Brema I; Obesity, Endocrine, and Metabolism Center, King Fahad Medical City, Riyadh, Saudi Arabia.
Alsaffar H; Department of Child Health, Division of Endocrinology, Sultan Qaboos University Hospital, Al-Khod, Muscat, Oman.
Al Dubayee M; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, Riyadh, Saudi Arabia.; Department of Medicine, Ministry of the National Guard-Health Affairs, Riyadh, Saudi Arabia.
Alshahrani A; College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, Riyadh, Saudi Arabia.; Department of Medicine, Ministry of the National Guard-Health Affairs, Riyadh, Saudi Arabia.
Abdelmeguid Y; Faculty of Medicine, Alexandria University, Alexandria, Egypt.
Omar OM; Faculty of Medicine, Alexandria University, Alexandria, Egypt.
Attia N; King Abdullah International Medical Research Center, Jeddah, Saudi Arabia.
Al Amiri E; Al Qassimi Women & Children Hospital, Sharjah, United Arab Emirates.
Al Jubeh J; Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates.
Algethami A; King Fahad Military Hospital, Jeddah, Saudi Arabia.
Alkhayyat H; Bahrain Defence Force Royal Medical Services, Riffa, Bahrain.
Haleem A; University of Duhok/College of Medicine, Duhok, Iraq.
Al Yahyaei M; National Diabetes and Endocrine Center, Royal Hospital, Muscat, Oman.
Khochtali I; Internal Medicine and Endocrinology Department, Fattouma Bourguiba University Hospital, University of Monastir, Monastir, Tunisia, Monastir, Tunisia.
Babli S; Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Nugud A; Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.
Thalange N; Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Department of Medicine, Mohammed Bin Rashid University, Dubai, United Arab Emirates.
Albalushi S; Oman Medical Specialty Board, Muscat, Oman.
Hergli N; Amryt Pharmaceuticals DAC, Dublin, Ireland.
Deeb A; Pediatric Endocrine Division, Sheikh Shakhbout Medical City & College of Medicine and Health Sciences, Khalifa University, Abu Dhabi, United Arab Emirates.
Alfadhel M; Genetic and Precision Medicine Department, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNGHA), Riyadh, Saudi Arabia.; College of Medicine, King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGHA), Riyadh, Saudi Arabia.; King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia.; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Mar 13; Vol. 19 (1), pp. 118. Date of Electronic Publication: 2024 Mar 13.
Typ publikacji:: Journal Article
MeSH Terms:: Lipodystrophy, Congenital Generalized*/epidemiology
Lipodystrophy, Congenital Generalized*/genetics
Lipodystrophy, Congenital Generalized*/complications
Lipodystrophy*/epidemiology
Lipodystrophy*/genetics
Female ; Adolescent ; Infant, Newborn ; Humans ; Child ; Adipose Tissue ; Africa, Northern/epidemiology ; Middle East/epidemiology

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Skocz do pozycji: 2.

Tytuł:: Maternal smoking, nutritional factors at different life stage, and the risk of incident type 2 diabetes: a prospective study of the UK Biobank.
Autorzy:: Jiang W; Key Laboratory of Precision Nutrition and Health, Ministry of Education, Department of Nutrition and Food Hygiene, the National Key Discipline, School of Public Health, Harbin Medical University, Harbin, P. R. China.; Department of Cardiology, the First Affiliated Hospital of Harbin Medical University, Harbin, China.
Tang Y; Key Laboratory of Precision Nutrition and Health, Ministry of Education, Department of Nutrition and Food Hygiene, the National Key Discipline, School of Public Health, Harbin Medical University, Harbin, P. R. China.
Yang R; Key Laboratory of Precision Nutrition and Health, Ministry of Education, Department of Nutrition and Food Hygiene, the National Key Discipline, School of Public Health, Harbin Medical University, Harbin, P. R. China.
Long Y; Key Laboratory of Precision Nutrition and Health, Ministry of Education, Department of Nutrition and Food Hygiene, the National Key Discipline, School of Public Health, Harbin Medical University, Harbin, P. R. China.
Sun C; Key Laboratory of Precision Nutrition and Health, Ministry of Education, Department of Nutrition and Food Hygiene, the National Key Discipline, School of Public Health, Harbin Medical University, Harbin, P. R. China.
Han T; Key Laboratory of Precision Nutrition and Health, Ministry of Education, Department of Nutrition and Food Hygiene, the National Key Discipline, School of Public Health, Harbin Medical University, Harbin, P. R. China. .
Wei W; Key Laboratory of Precision Nutrition and Health, Ministry of Education, Department of Nutrition and Food Hygiene, the National Key Discipline, School of Public Health, Harbin Medical University, Harbin, P. R. China. .; Department of Pharmacology, College of Pharmacy Key Laboratory of Cardiovascular Research, Ministry of Education, Harbin Medical University, Harbin, P. R. China. .; Pokaż więcej
Źródło:: BMC medicine [BMC Med] 2024 Feb 02; Vol. 22 (1), pp. 50. Date of Electronic Publication: 2024 Feb 02.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Diabetes Mellitus, Type 2*/epidemiology
Diabetes Mellitus, Type 2*/etiology
Lipodystrophy*/complications
Humans ; Prospective Studies ; UK Biobank ; Biological Specimen Banks ; Risk Factors ; Inflammation/complications ; Smoking

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Skocz do pozycji: 3.

Tytuł:: The blockade of the TGF-β pathway alleviates abnormal glucose and lipid metabolism of lipodystrophy not obesity.
Autorzy:: Xu WD; Guangdong Metabolic Diseases Research Center of Integrated Chinese and Western Medicine, Guangdong Pharmaceutical University, Guangzhou, China.; Key Laboratory of Glucolipid Metabolic Disorder, Ministry of Education of China, Guangdong Pharmaceutical University, Guangzhou, China.; Institute of Chinese Medicine, Guangdong Pharmaceutical University, Guangzhou, China.; Guangdong TCM Key Laboratory for Metabolic Diseases, Guangdong Pharmaceutical University, Guangzhou, China.
Lai SZ; Guangdong Metabolic Diseases Research Center of Integrated Chinese and Western Medicine, Guangdong Pharmaceutical University, Guangzhou, China.; Key Laboratory of Glucolipid Metabolic Disorder, Ministry of Education of China, Guangdong Pharmaceutical University, Guangzhou, China.; Institute of Chinese Medicine, Guangdong Pharmaceutical University, Guangzhou, China.; Guangdong TCM Key Laboratory for Metabolic Diseases, Guangdong Pharmaceutical University, Guangzhou, China.
Zhao J; Guangdong Metabolic Diseases Research Center of Integrated Chinese and Western Medicine, Guangdong Pharmaceutical University, Guangzhou, China.; Key Laboratory of Glucolipid Metabolic Disorder, Ministry of Education of China, Guangdong Pharmaceutical University, Guangzhou, China.; Institute of Chinese Medicine, Guangdong Pharmaceutical University, Guangzhou, China.; Guangdong TCM Key Laboratory for Metabolic Diseases, Guangdong Pharmaceutical University, Guangzhou, China.
Wei SJ; Guangdong Metabolic Diseases Research Center of Integrated Chinese and Western Medicine, Guangdong Pharmaceutical University, Guangzhou, China.; Key Laboratory of Glucolipid Metabolic Disorder, Ministry of Education of China, Guangdong Pharmaceutical University, Guangzhou, China.; Institute of Chinese Medicine, Guangdong Pharmaceutical University, Guangzhou, China.; Guangdong TCM Key Laboratory for Metabolic Diseases, Guangdong Pharmaceutical University, Guangzhou, China.
Fang XY; Guangdong Metabolic Diseases Research Center of Integrated Chinese and Western Medicine, Guangdong Pharmaceutical University, Guangzhou, China.; Key Laboratory of Glucolipid Metabolic Disorder, Ministry of Education of China, Guangdong Pharmaceutical University, Guangzhou, China.; Institute of Chinese Medicine, Guangdong Pharmaceutical University, Guangzhou, China.; Guangdong TCM Key Laboratory for Metabolic Diseases, Guangdong Pharmaceutical University, Guangzhou, China.
Liu YY; Guangdong Metabolic Diseases Research Center of Integrated Chinese and Western Medicine, Guangdong Pharmaceutical University, Guangzhou, China.; Key Laboratory of Glucolipid Metabolic Disorder, Ministry of Education of China, Guangdong Pharmaceutical University, Guangzhou, China.; Institute of Chinese Medicine, Guangdong Pharmaceutical University, Guangzhou, China.; Guangdong TCM Key Laboratory for Metabolic Diseases, Guangdong Pharmaceutical University, Guangzhou, China.
Rong XL; Guangdong Metabolic Diseases Research Center of Integrated Chinese and Western Medicine, Guangdong Pharmaceutical University, Guangzhou, China.; Key Laboratory of Glucolipid Metabolic Disorder, Ministry of Education of China, Guangdong Pharmaceutical University, Guangzhou, China.; Institute of Chinese Medicine, Guangdong Pharmaceutical University, Guangzhou, China.; Guangdong TCM Key Laboratory for Metabolic Diseases, Guangdong Pharmaceutical University, Guangzhou, China.
Guo J; Guangdong Metabolic Diseases Research Center of Integrated Chinese and Western Medicine, Guangdong Pharmaceutical University, Guangzhou, China.; Key Laboratory of Glucolipid Metabolic Disorder, Ministry of Education of China, Guangdong Pharmaceutical University, Guangzhou, China.; Institute of Chinese Medicine, Guangdong Pharmaceutical University, Guangzhou, China.; Guangdong TCM Key Laboratory for Metabolic Diseases, Guangdong Pharmaceutical University, Guangzhou, China.; Pokaż więcej
Źródło:: Pharmacology research & perspectives [Pharmacol Res Perspect] 2024 Feb; Vol. 12 (1), pp. e1160.
Typ publikacji:: Journal Article
MeSH Terms:: Lipid Metabolism*
Lipodystrophy*/drug therapy
Mice ; Animals ; Transforming Growth Factor beta/metabolism ; Sterol Regulatory Element Binding Protein 1/metabolism ; Glycerol ; Obesity/drug therapy ; Obesity/metabolism ; Glucose/metabolism

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Skocz do pozycji: 4.

Tytuł:: Effect of β-Estradiol on Adipogenesis in a 3T3-L1 Cell Model of Prelamin A Accumulation.
Autorzy:: Cobelo-Gómez S; Thyroid and Metabolic Diseases Unit (U.E.T.eM.), Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, Center for Research in Molecular Medicine and Chronic Diseases (CIMUS)-IDIS, University of Santiago de Compostela, 15782 Santiago de Compostela, Spain.
Sánchez-Iglesias S; Thyroid and Metabolic Diseases Unit (U.E.T.eM.), Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, Center for Research in Molecular Medicine and Chronic Diseases (CIMUS)-IDIS, University of Santiago de Compostela, 15782 Santiago de Compostela, Spain.
Fernández-Pombo A; Thyroid and Metabolic Diseases Unit (U.E.T.eM.), Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, Center for Research in Molecular Medicine and Chronic Diseases (CIMUS)-IDIS, University of Santiago de Compostela, 15782 Santiago de Compostela, Spain.
Araújo-Vilar D; Thyroid and Metabolic Diseases Unit (U.E.T.eM.), Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, Center for Research in Molecular Medicine and Chronic Diseases (CIMUS)-IDIS, University of Santiago de Compostela, 15782 Santiago de Compostela, Spain.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2024 Jan 20; Vol. 25 (2). Date of Electronic Publication: 2024 Jan 20.
Typ publikacji:: Journal Article
MeSH Terms:: Lipodystrophy, Familial Partial*/genetics
Lipodystrophy, Familial Partial*/metabolism
Lamin Type A*
Humans ; Female ; Mice ; Animals ; Adipogenesis ; 3T3-L1 Cells ; Nuclear Proteins/genetics ; Estradiol/pharmacology

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Skocz do pozycji: 5.

Tytuł:: Impact of lipodystrophy on health-related quality of life: the QuaLip study.
Autorzy:: Demir T; Division of Endocrinology and Metabolism, Department of Internal Medicine, Dokuz Eylul University, Izmir, Turkey.
Simsir IY; Division of Endocrinology and Metabolism, Department of Internal Medicine, Ege University, Izmir, Turkey.
Tuncel OK; Department of Psychiatry, Ege University, Izmir, Turkey.
Ozbaran B; Department of Child and Adolescent Psychiatry, Ege University, Izmir, Turkey.
Yildirim I; Amryt Pharmaceuticals, Dublin, Ireland.
Pirildar S; Department of Psychiatry, Ege University, Izmir, Turkey.
Ozen S; Division of Pediatric Endocrinology and Metabolism, Ege University, Izmir, Turkey.
Akinci B; Depark, Dokuz Eylul University, Izmir, Turkey. .; Izmir Biomedicine and Genome Center, Izmir, Turkey. .; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Jan 05; Vol. 19 (1), pp. 10. Date of Electronic Publication: 2024 Jan 05.
Typ publikacji:: Observational Study; Journal Article
MeSH Terms:: Lipodystrophy*
Quality of Life*
Adult ; Child ; Humans ; Adipose Tissue ; Anxiety Disorders ; Cost of Illness ; Prospective Studies

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Skocz do pozycji: 6.

Tytuł:: Juvenile dermatomyositis: association between nail fold capillary end row loop- area under the curve- and disease damage indicators.
Autorzy:: Khojah A; Department of Pediatrics, College of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia.; Division of Pediatric Rheumatology, Ann & Robert H. Lurie Children's Hospital of Chicago, 225 East Chicago Avenue, Box 50, Chicago, IL, 60611, USA.
Morgan G; Division of Pediatric Rheumatology, Ann & Robert H. Lurie Children's Hospital of Chicago, 225 East Chicago Avenue, Box 50, Chicago, IL, 60611, USA.
Klein-Gitelman MS; Division of Pediatric Rheumatology, Ann & Robert H. Lurie Children's Hospital of Chicago, 225 East Chicago Avenue, Box 50, Chicago, IL, 60611, USA.; Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
Pachman LM; Division of Pediatric Rheumatology, Ann & Robert H. Lurie Children's Hospital of Chicago, 225 East Chicago Avenue, Box 50, Chicago, IL, 60611, USA. .; Feinberg School of Medicine, Northwestern University, Chicago, IL, USA. .; Pokaż więcej
Źródło:: Pediatric rheumatology online journal [Pediatr Rheumatol Online J] 2023 Nov 13; Vol. 21 (1), pp. 137. Date of Electronic Publication: 2023 Nov 13.
Typ publikacji:: Journal Article
MeSH Terms:: Dermatomyositis*/complications
Dermatomyositis*/therapy
Lipodystrophy*/complications
Child ; Humans ; Area Under Curve ; Skin ; Chronic Disease

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Skocz do pozycji: 7.

Tytuł:: Mineralocorticoid Receptor Antagonism Prevents Type 2 Familial Partial Lipodystrophy Brown Adipocyte Dysfunction.
Autorzy:: Schena E; Unit of Bologna, CNR-National Research Council of Italy, Institute of Molecular Genetics 'Luigi Luca Cavalli-Sforza', 40136 Bologna, Italy.; IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.
Mattioli E; Unit of Bologna, CNR-National Research Council of Italy, Institute of Molecular Genetics 'Luigi Luca Cavalli-Sforza', 40136 Bologna, Italy.; IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.
Peres C; Unit of Bologna, CNR-National Research Council of Italy, Institute of Molecular Genetics 'Luigi Luca Cavalli-Sforza', 40136 Bologna, Italy.; IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.
Zanotti L; Unit of Gynecology and Obstetrics, Division of Endocrinology and Diabetes Prevention and Care, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.; Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, 40126 Bologna, Italy.
Morselli P; Plastic Surgery Unit, Department of Specialised, Experimental and Diagnostic Medicine, Alma Mater Studiorum University of Bologna, S. Orsola-Malpighi Hospital, 40126 Bologna, Italy.
Iozzo P; CNR-National Research Council of Italy, Institute of Clinical Physiology, 56124 Pisa, Italy.
Guzzardi MA; CNR-National Research Council of Italy, Institute of Clinical Physiology, 56124 Pisa, Italy.
Bernardini C; Department of Veterinary Medical Sciences, University of Bologna, 40064 Ozzano Emilia, Italy.
Forni M; Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, 40126 Bologna, Italy.
Nesci S; Department of Veterinary Medical Sciences, University of Bologna, 40064 Ozzano Emilia, Italy.
Caprio M; Laboratory of Cardiovascular Endocrinology, IRCCS San Raffaele, 00163 Rome, Italy.; Department of Human Sciences and Promotion of the Quality of Life, San Raffaele Roma Open University, 00166 Rome, Italy.
Cecchetti C; Unit of Gynecology and Obstetrics, Division of Endocrinology and Diabetes Prevention and Care, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.; Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, 40126 Bologna, Italy.
Pagotto U; Unit of Gynecology and Obstetrics, Division of Endocrinology and Diabetes Prevention and Care, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.; Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, 40126 Bologna, Italy.
Gabusi E; SC Laboratorio di Immunoreumatologia e Rigenerazione Tissutale, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.
Cattini L; SC Laboratorio di Immunoreumatologia e Rigenerazione Tissutale, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.
Lisignoli G; SC Laboratorio di Immunoreumatologia e Rigenerazione Tissutale, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.
Blalock W; Unit of Bologna, CNR-National Research Council of Italy, Institute of Molecular Genetics 'Luigi Luca Cavalli-Sforza', 40136 Bologna, Italy.; IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.
Gambineri A; Unit of Gynecology and Obstetrics, Division of Endocrinology and Diabetes Prevention and Care, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.; Department of Medical and Surgical Sciences (DIMEC), Alma Mater Studiorum University of Bologna, 40126 Bologna, Italy.
Lattanzi G; Unit of Bologna, CNR-National Research Council of Italy, Institute of Molecular Genetics 'Luigi Luca Cavalli-Sforza', 40136 Bologna, Italy.; IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.; Pokaż więcej
Źródło:: Cells [Cells] 2023 Nov 07; Vol. 12 (22). Date of Electronic Publication: 2023 Nov 07.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Lipodystrophy, Familial Partial*
Humans ; Adipocytes, Brown/metabolism ; Lamin Type A/metabolism ; Mineralocorticoid Receptor Antagonists/metabolism ; Spironolactone/pharmacology ; Receptors, Mineralocorticoid/metabolism ; HEK293 Cells ; Adipose Tissue, Brown/metabolism

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Skocz do pozycji: 8.

Tytuł:: The farnesyl transferase inhibitor (FTI) lonafarnib improves nuclear morphology in ZMPSTE24-deficient fibroblasts from patients with the progeroid disorder MAD-B.
Autorzy:: Odinammadu KO; Department of Cell Biology, The Johns Hopkins School of Medicine, Baltimore, MD, USA.
Shilagardi K; Department of Cell Biology, The Johns Hopkins School of Medicine, Baltimore, MD, USA.
Tuminelli K; The Progeria Research Foundation, Peabody, MA, USA.
Judge DP; Department of Medicine, Medical University of South Carolina, Charleston, SC, USA.
Gordon LB; The Progeria Research Foundation, Peabody, MA, USA.; Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Department of Pediatrics, Division of Genetics, Hasbro Children's Hospital and Warren Alpert Medical School of Brown University, Providence, RI, USA.
Michaelis S; Department of Cell Biology, The Johns Hopkins School of Medicine, Baltimore, MD, USA.; Pokaż więcej
Źródło:: Nucleus (Austin, Tex.) [Nucleus] 2023 Dec; Vol. 14 (1), pp. 2288476. Date of Electronic Publication: 2023 Dec 05.
Typ publikacji:: Journal Article
MeSH Terms:: Progeria*/drug therapy
Progeria*/genetics
Progeria*/metabolism
Lipodystrophy*/metabolism
Child ; Humans ; Lamin Type A/genetics ; Lamin Type A/metabolism ; Enzyme Inhibitors/pharmacology ; Mutation ; Fibroblasts/metabolism ; Transferases/genetics ; Transferases/metabolism ; Metalloendopeptidases/genetics ; Metalloendopeptidases/metabolism ; Membrane Proteins/metabolism

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Skocz do pozycji: 9.

Tytuł:: A subtype of laminopathies: Generalized lipodystrophy-associated progeroid syndrome caused by LMNA gene c.29C>T mutation.
Autorzy:: Huang S; Department of Emergency, First Affiliated Hospital of Nanchang University, Nanchang, China.
Zhang Y; Department of Endocrinology and Metabolism, First Affiliated Hospital of Nanchang University, Nanchang, China.; Jiangxi Clinical Research Center for Endocrine and Metabolic Disease, Nanchang, China.; Jiangxi Branch of National Clinical Research Center for Metabolic Disease, Nanchang, China.
Zhan Z; Department of Emergency, First Affiliated Hospital of Nanchang University, Nanchang, China.
Gong S; Department of Emergency, First Affiliated Hospital of Nanchang University, Nanchang, China.; Pokaż więcej
Źródło:: Journal of diabetes investigation [J Diabetes Investig] 2023 Oct; Vol. 14 (10), pp. 1221-1225. Date of Electronic Publication: 2023 Jul 13.
Typ publikacji:: Case Reports
MeSH Terms:: Lipodystrophy, Congenital Generalized*/complications
Lipodystrophy, Congenital Generalized*/diagnosis
Lipodystrophy, Congenital Generalized*/genetics
Progeria*/complications
Progeria*/genetics
Lipodystrophy*/genetics
Lipodystrophy*/complications
Laminopathies*/complications
Male ; Humans ; Adolescent ; Mutation ; Lamin Type A/genetics

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Skocz do pozycji: 10.

Tytuł:: Forced Hepatic Expression of NRF2 or NQO1 Impedes Hepatocyte Lipid Accumulation in a Lipodystrophy Mouse Model.
Autorzy:: Wakabayashi N; Translational Research Program, Fred Hutchinson Cancer Center, Seattle, WA 98109, USA.
Yagishita Y; Translational Research Program, Fred Hutchinson Cancer Center, Seattle, WA 98109, USA.; Division of Endocrinology, Columbia University, New York, NY 10032, USA.
Joshi T; Translational Research Program, Fred Hutchinson Cancer Center, Seattle, WA 98109, USA.
Kensler TW; Translational Research Program, Fred Hutchinson Cancer Center, Seattle, WA 98109, USA.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2023 Aug 28; Vol. 24 (17). Date of Electronic Publication: 2023 Aug 28.
Typ publikacji:: Journal Article
MeSH Terms:: Fatty Liver*/genetics
NF-E2-Related Factor 2*/genetics
Lipodystrophy*/genetics
Lipodystrophy*/metabolism
Animals ; Mice ; Disease Models, Animal ; Hepatocytes ; Hepatomegaly ; Kelch-Like ECH-Associated Protein 1/genetics ; Lipids ; NAD(P)H Dehydrogenase (Quinone)/genetics

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Skocz do pozycji: 11.

Tytuł:: Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year
Autorzy:: Özalkak Ş; Gazi Yaşargil Training and Research Hospital, Clinic of Pediatric Endocrinology, Diyarbakır, Turkey
Demiral M; Balıkesir City Hospital, Clinic of Pediatric Endocrinology, Balıkesir, Turkey
Ünal E; Dicle University Faculty of Medicine, Department of Paediatric Endocrinology, Diyarbakır, Turkey
Taş FF; Gazi Yaşargil Training and Research Hospital, Clinic of Pediatric Endocrinology, Diyarbakır, Turkey
Onay H; Multigen Genetic Diseases Diagnosis Center, Department of Medical Genetics, İzmir Turkey
Demirbilek H; Hacettepe University Faculty of Medicine, Department of Paediatric Endocrinology, Ankara, Turkey
Özbek MN; Gazi Yaşargil Training and Research Hospital, Clinic of Pediatric Endocrinology, Diyarbakır, Turkey; Pokaż więcej
Źródło:: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2023 Aug 23; Vol. 15 (3), pp. 329-333. Date of Electronic Publication: 2022 Jun 23.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: GTP-Binding Protein gamma Subunits*/genetics
GTP-Binding Protein gamma Subunits*/metabolism
Hyperinsulinism*/complications
Hypertriglyceridemia*/complications
Lipodystrophy, Congenital Generalized*/drug therapy
Lipodystrophy, Congenital Generalized*/genetics
Lipodystrophy, Congenital Generalized*/complications
Child ; Humans ; Infant ; Male ; Hyperphagia/complications ; Leptin/genetics ; Leptin/metabolism ; Mutation ; Quality of Life

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Skocz do pozycji: 12.

Tytuł:: Refining Evaluation of Bone Mass and Adipose Distribution in Dunnigan Syndrome.
Autorzy:: Moreira MLM; Department of Internal Medicine, Ribeirão Preto Medical School, University of Sao Paulo, Ribeirao Preto 14049-900, SP, Brazil.
de Araújo IM; Department of Internal Medicine, Ribeirão Preto Medical School, University of Sao Paulo, Ribeirao Preto 14049-900, SP, Brazil.
Fukada SY; Department of Biomolecular Sciences, School of Pharmaceutical Sciences of Ribeirao Preto, University of Sao Paulo, Ribeirao Preto 14040-900, SP, Brazil.
Venturini LGR; Department of Biomolecular Sciences, School of Pharmaceutical Sciences of Ribeirao Preto, University of Sao Paulo, Ribeirao Preto 14040-900, SP, Brazil.
Guidorizzi NR; Department of Internal Medicine, Ribeirão Preto Medical School, University of Sao Paulo, Ribeirao Preto 14049-900, SP, Brazil.
Garrido CE; Department of Physics, Faculty of Philosophy, Sciences and Letters of Ribeirao Preto, University of Sao Paulo, Ribeirao Preto 14049-900, SP, Brazil.
Rosen CJ; Maine Health Institute for Research, Scarborough, ME 04074, USA.
de Paula FJA; Department of Internal Medicine, Ribeirão Preto Medical School, University of Sao Paulo, Ribeirao Preto 14049-900, SP, Brazil.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2023 Aug 23; Vol. 24 (17). Date of Electronic Publication: 2023 Aug 23.
Typ publikacji:: Journal Article; Observational Study
MeSH Terms:: Adiposity*
Lipodystrophy, Familial Partial*
Humans ; Bone Density ; Cross-Sectional Studies ; Obesity ; Osteocalcin

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Skocz do pozycji: 13.

Tytuł:: Adipose transplantation improves olfactory function and neurogenesis via PKCα-involved lipid metabolism in Seipin Knockout mice.
Autorzy:: Yang J; Department of Anatomy, Shanxi Medical University, Taiyuan, 030001, People's Republic of China.
Yang N; Department of Anatomy, Shanxi Medical University, Taiyuan, 030001, People's Republic of China.
Zhao H; School of Basic Medical Sciences, Shanxi Medical University, Taiyuan, 030001, People's Republic of China.
Qiao Y; Analytical Instrumentation Center and State Key Laboratory of Coal Conversion, Institute of Coal Chemistry, Chinese Academy of Sciences, Taiyuan, People's Republic of China.
Li Y; Analytical Instrumentation Center and State Key Laboratory of Coal Conversion, Institute of Coal Chemistry, Chinese Academy of Sciences, Taiyuan, People's Republic of China.
Wang C; Laboratory Animal Research Center of Shanxi Medical University, Shanxi Key Laboratory of Animal and Animal Model of Human Diseases, Shanxi Medical University, Taiyuan, People's Republic of China.
Lim KL; Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore.
Zhang C; School of Basic Medical Sciences, Shanxi Medical University, Taiyuan, 030001, People's Republic of China. chengwu_.
Yang W; Anhui Province Key Laboratory of Medical Physics and Technology, Center of Medical Physics and Technology, Hefei Institutes of Physical Science, Chinese Academy of Sciences, Hefei, 230031, People's Republic of China. .; Cancer Hospital, Hefei Institutes of Physical Science, Chinese Academy of Sciences, Hefei, People's Republic of China. .
Lu L; Department of Anatomy, Shanxi Medical University, Taiyuan, 030001, People's Republic of China. .; Key Laboratory of Cellular Physiology, Ministry of Education, Shanxi Medical University, Taiyuan, People's Republic of China. .; Pokaż więcej
Źródło:: Stem cell research & therapy [Stem Cell Res Ther] 2023 Sep 07; Vol. 14 (1), pp. 239. Date of Electronic Publication: 2023 Sep 07.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Lipid Metabolism*/genetics
Lipodystrophy*
Mice ; Animals ; Mice, Knockout ; Protein Kinase C-alpha/genetics ; Obesity ; Neurogenesis/genetics

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Skocz do pozycji: 14.

Tytuł:: Familial Partial Lipodystrophy: Clinical Features, Genetics and Treatment in a Greek Referral Center.
Autorzy:: Kountouri A; Second Department of Internal Medicine, Medical School, National and Kapodistrian University of Athens, Attikon University Hospital, 12462 Athens, Greece.
Korakas E; Second Department of Internal Medicine, Medical School, National and Kapodistrian University of Athens, Attikon University Hospital, 12462 Athens, Greece.
Maratou E; Laboratory of Clinical Biochemistry, Medical School, National and Kapodistrian University of Athens, Attikon University Hospital, 12462 Athens, Greece.
Ikonomidis I; Laboratory of Preventive Cardiology, Second Cardiology Department, Medical School, National and Kapodistrian University of Athens, Attikon University Hospital, 12462 Athens, Greece.
Balampanis K; Second Department of Internal Medicine, Medical School, National and Kapodistrian University of Athens, Attikon University Hospital, 12462 Athens, Greece.
Liatis S; First Department of Propaedeutic and Internal Medicine, Medical School, National and Kapodistrian University of Athens, Laiko General Hospital, 11527 Athens, Greece.
Tentolouris N; First Department of Propaedeutic and Internal Medicine, Medical School, National and Kapodistrian University of Athens, Laiko General Hospital, 11527 Athens, Greece.
Toulas P; Bioiatriki Healthcare Group, 11526 Athens, Greece.
Kousathana F; Second Department of Internal Medicine, Medical School, National and Kapodistrian University of Athens, Attikon University Hospital, 12462 Athens, Greece.
Giatzakis C; DNAbiolab, Cretan Center for Research and Development of Applications on Genetics and Molecular Biology, 71306 Heraklion, Greece.
Dimitriadis GD; Sector of Medicine, Medical School, National and Kapodistrian University of Athens, 15772 Athens, Greece.
Lambadiari V; Second Department of Internal Medicine, Medical School, National and Kapodistrian University of Athens, Attikon University Hospital, 12462 Athens, Greece.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2023 Jul 27; Vol. 24 (15). Date of Electronic Publication: 2023 Jul 27.
Typ publikacji:: Observational Study; Journal Article
MeSH Terms:: Lipodystrophy, Familial Partial*/genetics
Humans ; Greece ; Lamin Type A/genetics ; Mutation ; Phenotype

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Skocz do pozycji: 15.

Tytuł:: The Metreleptin Effectiveness and Safety Registry (MEASuRE): concept, design and challenges.
Autorzy:: Haymond MW; Clinical Care Center, Texas Children's Hospital, Baylor College of Medicine, 6701 Fannin St., 11th floor, Houston, TX, 77030, USA. .
Araújo-Vilar D; Thyroid and Metabolic Diseases Unit, Centro de Investigación en Medicina Molecular y Enfermedades Crónicas (CIMUS)-IDIS, School of Medicine, Universidade de Santiago de Compostela, Avda. Barcelona 3, Santiago de Compostela, 15707, Spain.
Balser J; Veristat LLC, 134 Turnpike Rd #200, Southborough, MA, 01772, USA.
Lewis JH; MedStar Georgetown University Hospital, Washington, DC, USA.
Louzado R; Amryt Pharmaceuticals DAC, 45 Mespil Road, Dublin 4, Ireland.
Musso C; Diabetes section, Fundacion Favaloro, Buenos Aires, Argentina.
von Schnurbein J; Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, Centre for Rare Endocrine Disorders, Ulm University Medical Centre, Eythstraße 24, 89075, Ulm, Germany.
Wabitsch M; Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, Centre for Rare Endocrine Disorders, Ulm University Medical Centre, Eythstraße 24, 89075, Ulm, Germany.; Pokaż więcej
Corporate Authors:: MEASuRE group
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 May 26; Vol. 18 (1), pp. 127. Date of Electronic Publication: 2023 May 26.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Leptin*
Lipodystrophy*/drug therapy
Humans ; Adipose Tissue/metabolism ; Registries

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Skocz do pozycji: 16.

Tytuł:: Impact of Combined Baricitinib and FTI Treatment on Adipogenesis in Hutchinson-Gilford Progeria Syndrome and Other Lipodystrophic Laminopathies.
Autorzy:: Hartinger R; Epigenetics of Aging, Department of Dermatology and Allergy, TUM School of Medicine, Munich Institute of Biomedical Engineering (MIBE), Technical University of Munich (TUM), 85748 Garching, Germany.
Lederer EM; Epigenetics of Aging, Department of Dermatology and Allergy, TUM School of Medicine, Munich Institute of Biomedical Engineering (MIBE), Technical University of Munich (TUM), 85748 Garching, Germany.
Schena E; Unit of Bologna, CNR Institute of Molecular Genetics 'Luigi Luca Cavalli-Sforza', 40136 Bologna, Italy.; IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.
Lattanzi G; Unit of Bologna, CNR Institute of Molecular Genetics 'Luigi Luca Cavalli-Sforza', 40136 Bologna, Italy.; IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy.
Djabali K; Epigenetics of Aging, Department of Dermatology and Allergy, TUM School of Medicine, Munich Institute of Biomedical Engineering (MIBE), Technical University of Munich (TUM), 85748 Garching, Germany.; Pokaż więcej
Źródło:: Cells [Cells] 2023 May 09; Vol. 12 (10). Date of Electronic Publication: 2023 May 09.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Progeria*/genetics
Lipodystrophy*/drug therapy
Humans ; Adipogenesis ; Mutation

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Skocz do pozycji: 17.

Tytuł:: Activation of brown adipose tissue by a low-protein diet ameliorates hyperglycemia in a diabetic lipodystrophy mouse model.
Autorzy:: Munoz MD; Department of Physiology and Biophysics, The University of Illinois at Chicago, 909 S Wolcott Ave, RM 2099, Chicago, IL, 60612, USA.; Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, The University of Illinois at Chicago, Chicago, IL, 60612, USA.
Zamudio A; Department of Physiology and Biophysics, The University of Illinois at Chicago, 909 S Wolcott Ave, RM 2099, Chicago, IL, 60612, USA.
McCann M; Department of Physiology and Biophysics, The University of Illinois at Chicago, 909 S Wolcott Ave, RM 2099, Chicago, IL, 60612, USA.
Gil V; Department of Physiology and Biophysics, The University of Illinois at Chicago, 909 S Wolcott Ave, RM 2099, Chicago, IL, 60612, USA.
Xu P; Department of Physiology and Biophysics, The University of Illinois at Chicago, 909 S Wolcott Ave, RM 2099, Chicago, IL, 60612, USA.; Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, The University of Illinois at Chicago, Chicago, IL, 60612, USA.
Liew CW; Department of Physiology and Biophysics, The University of Illinois at Chicago, 909 S Wolcott Ave, RM 2099, Chicago, IL, 60612, USA. .; Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, The University of Illinois at Chicago, Chicago, IL, 60612, USA. .; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2023 Jul 21; Vol. 13 (1), pp. 11808. Date of Electronic Publication: 2023 Jul 21.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:: Insulin Resistance*
Hyperglycemia*/complications
Lipodystrophy*
Diabetes Mellitus*
Humans ; Animals ; Diet, Protein-Restricted ; Adipose Tissue, Brown ; Glucose ; Disease Models, Animal

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Skocz do pozycji: 18.

Tytuł:: Identifying congenital generalized lipodystrophy using deep learning-DEEPLIPO.
Autorzy:: da Cunha Olegario NB; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO), Clinical Research Unit, Walter Cantidio University Hospital, Federal University of Ceará/EBSERH, Rua Coronel Nunes de Melo 1142, Fortaleza, Ceara, 60416-000, Brazil.; Department of Clinical Medicine, Federal University of Ceará, Fortaleza, Brazil.
da Cunha Neto JS; Center of Technology, University of Fortaleza, Fortaleza, Brazil.
Barbosa PCS; Center of Technology, University of Fortaleza, Fortaleza, Brazil.
Pinheiro PR; Postgraduate Program in Applied Informatics, University of Fortaleza, Fortaleza, Brazil.
Landim PLA; Center of Technology, University of Fortaleza, Fortaleza, Brazil.
Montenegro APDR; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO), Clinical Research Unit, Walter Cantidio University Hospital, Federal University of Ceará/EBSERH, Rua Coronel Nunes de Melo 1142, Fortaleza, Ceara, 60416-000, Brazil.; Department of Clinical Medicine, Federal University of Ceará, Fortaleza, Brazil.; Postgraduate Program in Public Health, Federal University of Ceará, Fortaleza, Brazil.
Fernandes VO; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO), Clinical Research Unit, Walter Cantidio University Hospital, Federal University of Ceará/EBSERH, Rua Coronel Nunes de Melo 1142, Fortaleza, Ceara, 60416-000, Brazil.; Department of Clinical Medicine, Federal University of Ceará, Fortaleza, Brazil.; Postgraduate Program in Public Health, Federal University of Ceará, Fortaleza, Brazil.
de Albuquerque VHC; Department of Teleinformatics Engineering, Federal University of Ceará, Fortaleza, Brazil.
Duarte JBF; Postgraduate Program in Applied Informatics, University of Fortaleza, Fortaleza, Brazil.
da Cruz Paiva Lima GE; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO), Clinical Research Unit, Walter Cantidio University Hospital, Federal University of Ceará/EBSERH, Rua Coronel Nunes de Melo 1142, Fortaleza, Ceara, 60416-000, Brazil.; Center of Technology, University of Fortaleza, Fortaleza, Brazil.; Department of Clinical Medicine, Federal University of Ceará, Fortaleza, Brazil.
Junior RMM; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO), Clinical Research Unit, Walter Cantidio University Hospital, Federal University of Ceará/EBSERH, Rua Coronel Nunes de Melo 1142, Fortaleza, Ceara, 60416-000, Brazil. .; Department of Clinical Medicine, Federal University of Ceará, Fortaleza, Brazil. .; Postgraduate Program in Public Health, Federal University of Ceará, Fortaleza, Brazil. .; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2023 Feb 07; Vol. 13 (1), pp. 2176. Date of Electronic Publication: 2023 Feb 07.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:: Lipodystrophy, Congenital Generalized*/diagnosis
Lipodystrophy, Congenital Generalized*/genetics
Deep Learning*
Lipodystrophy*/genetics
Humans ; Adipose Tissue ; Phenotype

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Skocz do pozycji: 19.

Tytuł:: Disruption of Irisin Dimerization by FDA-Approved Drugs: A Computational Repurposing Approach for the Potential Treatment of Lipodystrophy Syndromes.
Autorzy:: Flori L; Department of Pharmacy, University of Pisa, Via Bonanno 6, 56126 Pisa, Italy.
Brogi S; Department of Pharmacy, University of Pisa, Via Bonanno 6, 56126 Pisa, Italy.; Bioinformatics Research Center, School of Pharmacy and Pharmaceutical Sciences, Isfahan University of Medical Sciences, Isfahan 81746-73461, Iran.
Sirous H; Bioinformatics Research Center, School of Pharmacy and Pharmaceutical Sciences, Isfahan University of Medical Sciences, Isfahan 81746-73461, Iran.
Calderone V; Department of Pharmacy, University of Pisa, Via Bonanno 6, 56126 Pisa, Italy.; Pokaż więcej
Źródło:: International journal of molecular sciences [Int J Mol Sci] 2023 Apr 20; Vol. 24 (8). Date of Electronic Publication: 2023 Apr 20.
Typ publikacji:: Journal Article
MeSH Terms:: Fibronectins*
Lipodystrophy*
Humans ; Molecular Docking Simulation ; Dimerization ; Drug Repositioning ; Syndrome ; Molecular Dynamics Simulation

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Skocz do pozycji: 20.

Tytuł:: Clinical Spectrum of LMNA -Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review.
Autorzy:: Fernandez-Pombo A; UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, 15706 Santiago de Compostela, Spain.; Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain.
Diaz-Lopez EJ; UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, 15706 Santiago de Compostela, Spain.; Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain.
Castro AI; Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain.; CIBER Fisiopatología de la Obesidad y la Nutrición (CIBERobn), 28029 Madrid, Spain.
Sanchez-Iglesias S; UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, 15706 Santiago de Compostela, Spain.
Cobelo-Gomez S; UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, 15706 Santiago de Compostela, Spain.
Prado-Moraña T; UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, 15706 Santiago de Compostela, Spain.; Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain.
Araujo-Vilar D; UETeM-Molecular Pathology Group, Department of Psychiatry, Radiology, Public Health, Nursing and Medicine, IDIS-CIMUS, University of Santiago de Compostela, 15706 Santiago de Compostela, Spain.; Division of Endocrinology and Nutrition, University Clinical Hospital of Santiago de Compostela, 15706 Santiago de Compostela, Spain.; Pokaż więcej
Źródło:: Cells [Cells] 2023 Feb 24; Vol. 12 (5). Date of Electronic Publication: 2023 Feb 24.
Typ publikacji:: Systematic Review; Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:: Lipodystrophy, Familial Partial*
Insulin Resistance*/genetics
Diabetes Mellitus, Type 2*/pathology
Humans ; Female ; Adipose Tissue/metabolism ; Extremities/pathology ; Lamin Type A

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