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Wyszukujesz frazę ""LIPODYSTROPHY"" wg kryterium: Temat


Tytuł :
Association of the polymorphisms of the genes APOC3 (rs2854116), ESR2 (rs3020450), HFE (rs1799945), MMP1 (rs1799750) and PPARG (rs1801282) with lipodystrophy in people living with HIV on antiretroviral therapy: a systematic review.
Autorzy :
da Silva AS; Faculdade de Ciências Médicas (FCM), Universidade de Pernambuco (UPE), Recife, PE, Brazil. .
Carvalho TL; Hospital Universitário Oswaldo Cruz (HUOC), Universidade de Pernambuco (UPE), Recife, PE, Brazil.
do Ó KP; Instituto de Pesquisa Aggeu Magalhães (CPqAM), Fundação Oswaldo Cruz (FIOCRUZ), Recife, PE, Brazil.
da Nóbrega DN; Instituto de Ciências Biológicas (ICB), Universidade de Pernambuco (UPE), Recife, PE, Brazil.
Dos Santos Souza R; Instituto de Ciências Biológicas (ICB), Universidade de Pernambuco (UPE), Recife, PE, Brazil.
da Silva Lima VF; Faculdade de Ciências Médicas (FCM), Universidade de Pernambuco (UPE), Recife, PE, Brazil.
Farias ICC; Faculdade de Ciências Médicas (FCM), Universidade de Pernambuco (UPE), Recife, PE, Brazil.
de Mendonça Belmont TF; Faculdade de Ciências Médicas (FCM), Universidade de Pernambuco (UPE), Recife, PE, Brazil.
de Mendonça Cavalcanti MDS; Faculdade de Ciências Médicas (FCM), Universidade de Pernambuco (UPE), Recife, PE, Brazil.
de Barros Miranda-Filho D; Faculdade de Ciências Médicas (FCM), Universidade de Pernambuco (UPE), Recife, PE, Brazil.
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Źródło :
Molecular biology reports [Mol Biol Rep] 2020 Jun; Vol. 47 (6), pp. 4779-4787. Date of Electronic Publication: 2020 Apr 22.
Typ publikacji :
Journal Article; Systematic Review
MeSH Terms :
HIV Infections/*genetics
HIV-Associated Lipodystrophy Syndrome/*genetics
HIV-Associated Lipodystrophy Syndrome/*metabolism
Apolipoprotein C-III/genetics ; Apolipoprotein C-III/metabolism ; Estrogen Receptor beta/genetics ; Female ; Gene Frequency ; Genetic Association Studies/methods ; Genotype ; HIV/drug effects ; HIV/pathogenicity ; Hemochromatosis Protein/genetics ; Hemochromatosis Protein/metabolism ; Humans ; Lipodystrophy/complications ; Lipodystrophy/genetics ; Male ; Matrix Metalloproteinase 1/genetics ; Matrix Metalloproteinase 1/metabolism ; PPAR gamma/genetics ; PPAR gamma/metabolism ; Polymorphism, Single Nucleotide
Czasopismo naukowe
Tytuł :
Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome.
Autorzy :
Sánchez-Iglesias S; UETeM, CIMUS-IDIS, School of Medicine, University of Santiago de Compostela, Avda Barcelona s/n, 15782, Santiago de Compostela, Spain.
Fernández-Pombo A; UETeM, CIMUS-IDIS, School of Medicine, University of Santiago de Compostela, Avda Barcelona s/n, 15782, Santiago de Compostela, Spain.
Araújo-Vilar D; UETeM, CIMUS-IDIS, School of Medicine, University of Santiago de Compostela, Avda Barcelona s/n, 15782, Santiago de Compostela, Spain. .
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Źródło :
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2021 Apr; Vol. 42 (4), pp. 1597-1598. Date of Electronic Publication: 2020 Oct 21.
Typ publikacji :
Letter; Research Support, Non-U.S. Gov't; Comment
MeSH Terms :
Lipodystrophy, Congenital Generalized*
Myoclonic Epilepsies, Progressive*/diagnosis
Myoclonic Epilepsies, Progressive*/genetics
Humans
Raport
Tytuł :
Successful treatment of chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome with tofacitinib.
Autorzy :
Patel PN; Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.
Hunt R; Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.
Pettigrew ZJ; University of North Carolina School of Medicine, Chapel Hill, NC, USA.; North Carolina Children's Hospital, Chapel Hill, NC, USA.
Shirley JB; University of Colorado School of Medicine, Aurora, CO, USA.; Children's Hospital of Colorado, Aurora, CO, USA.
Vogel TP; Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.
de Guzman MM; Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.
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Źródło :
Pediatric dermatology [Pediatr Dermatol] 2021 Mar; Vol. 38 (2), pp. 528-529. Date of Electronic Publication: 2021 Jan 29.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Lipodystrophy*
Skin Diseases*
Sweet Syndrome*
Child ; Female ; Fever ; Humans ; Immunologic Deficiency Syndromes ; Piperidines ; Pyrimidines
SCR Disease Name :
chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature
Czasopismo naukowe
Tytuł :
Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation‑dependent probe amplification in an infant with congenital generalized lipodystrophy.
Autorzy :
Xie B; Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Nanning, Guangxi 530023, P.R. China.
Fan X; Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Nanning, Guangxi 530023, P.R. China.
Lei Y; Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Nanning, Guangxi 530023, P.R. China.
Yi S; Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Nanning, Guangxi 530023, P.R. China.
Yang Q; Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Nanning, Guangxi 530023, P.R. China.
Wang J; Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Nanning, Guangxi 530023, P.R. China.
Qin Z; Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Nanning, Guangxi 530023, P.R. China.
Shen F; Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Nanning, Guangxi 530023, P.R. China.
Luo J; Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Nanning, Guangxi 530023, P.R. China.
Shen Y; Department of Genetic and Metabolic Central Laboratory, Guangxi Maternal and Child Health Hospital, Nanning, Guangxi 530023, P.R. China.
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Źródło :
Molecular medicine reports [Mol Med Rep] 2020 Jun; Vol. 21 (6), pp. 2296-2302. Date of Electronic Publication: 2020 Mar 23.
Typ publikacji :
Journal Article
MeSH Terms :
Heterozygote*
GTP-Binding Protein gamma Subunits/*genetics
Lipodystrophy, Congenital Generalized/*diagnosis
Lipodystrophy, Congenital Generalized/*genetics
Multiplex Polymerase Chain Reaction/*methods
Whole Exome Sequencing/*methods
Asian Continental Ancestry Group/genetics ; DNA Copy Number Variations ; Exons ; Genetic Predisposition to Disease/genetics ; Humans ; Infant ; Lipodystrophy ; Mutation ; Phenotype
Czasopismo naukowe
Tytuł :
Adipose tissue is a critical regulator of osteoarthritis.
Autorzy :
Collins KH; Department of Orthopaedic Surgery, Washington University, St. Louis, MO 63110.; Shriners Hospitals for Children, St. Louis, MO 63110.; Center of Regenerative Medicine, Washington University, St. Louis, MO 63110.
Lenz KL; Department of Orthopaedic Surgery, Washington University, St. Louis, MO 63110.; Shriners Hospitals for Children, St. Louis, MO 63110.; Center of Regenerative Medicine, Washington University, St. Louis, MO 63110.
Pollitt EN; Department of Orthopaedic Surgery, Washington University, St. Louis, MO 63110.; Shriners Hospitals for Children, St. Louis, MO 63110.; Center of Regenerative Medicine, Washington University, St. Louis, MO 63110.
Ferguson D; Division of Endocrinology, Washington University, St. Louis, MO 63110.
Hutson I; Division of Endocrinology, Washington University, St. Louis, MO 63110.
Springer LE; Division of Rheumatology, Washington University, St. Louis, MO 63110.
Oestreich AK; Department of Orthopaedic Surgery, Washington University, St. Louis, MO 63110.; Shriners Hospitals for Children, St. Louis, MO 63110.; Center of Regenerative Medicine, Washington University, St. Louis, MO 63110.
Tang R; Department of Orthopaedic Surgery, Washington University, St. Louis, MO 63110.; Shriners Hospitals for Children, St. Louis, MO 63110.; Center of Regenerative Medicine, Washington University, St. Louis, MO 63110.
Choi YR; Yonsei University College of Medicine, Seoul 120-752, South Korea.
Meyer GA; Department of Orthopaedic Surgery, Washington University, St. Louis, MO 63110.; Program in Physical Therapy, Washington University, St. Louis, MO 63110.
Teitelbaum SL; Department of Pathology and Immunology, Washington University, St. Louis, MO 63110.
Pham CTN; Division of Rheumatology, Washington University, St. Louis, MO 63110.
Harris CA; Division of Endocrinology, Washington University, St. Louis, MO 63110.
Guilak F; Department of Orthopaedic Surgery, Washington University, St. Louis, MO 63110; .; Shriners Hospitals for Children, St. Louis, MO 63110.; Center of Regenerative Medicine, Washington University, St. Louis, MO 63110.
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Źródło :
Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2021 Jan 05; Vol. 118 (1).
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Adipose Tissue/*metabolism
Lipodystrophy/*metabolism
Osteoarthritis, Knee/*metabolism
Adipose Tissue/physiopathology ; Adipose Tissue/transplantation ; Adiposity ; Animals ; Body Weight ; Cartilage/pathology ; Cytokines/metabolism ; Diet, High-Fat/adverse effects ; Disease Models, Animal ; Disease Susceptibility/complications ; Disease Susceptibility/metabolism ; Female ; Fibroblasts/metabolism ; Hyperplasia/complications ; Inflammation/metabolism ; Lipodystrophy/diagnostic imaging ; Lipodystrophy/genetics ; Lipodystrophy/physiopathology ; Locomotion ; Male ; Mice ; Muscle Strength ; Osteoarthritis, Knee/complications ; Osteoarthritis, Knee/diagnostic imaging ; Osteoarthritis, Knee/prevention & control ; Pain/complications ; Paracrine Communication/physiology
Czasopismo naukowe
Tytuł :
Hypopharyngeal Squamous Cell Carcinoma in Sisters with LMNA Associated Familial Partial Lipodystrophy: A Case Report and Review of the Literature.
Autorzy :
Youssef SJ; Mayo Clinic Alix School of Medicine, Mayo Clinic, Rochester, MN, USA.
Macielak RJ; Department of Otorhinolaryngology-Head and Neck Surgery, Mayo Clinic, Rochester, MN, USA.
Schimmenti LA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Chatzopoulos K; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Price DL; Department of Otorhinolaryngology-Head and Neck Surgery, Mayo Clinic, Rochester, MN, USA.
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Źródło :
The Annals of otology, rhinology, and laryngology [Ann Otol Rhinol Laryngol] 2020 Dec; Vol. 129 (12), pp. 1243-1246. Date of Electronic Publication: 2020 Jun 09.
Typ publikacji :
Case Reports; Journal Article; Review
MeSH Terms :
Siblings*
Hypopharyngeal Neoplasms/*complications
Lipodystrophy, Familial Partial/*complications
Squamous Cell Carcinoma of Head and Neck/*complications
Adult ; Chemoradiotherapy ; Esophageal Neoplasms/complications ; Esophageal Squamous Cell Carcinoma/complications ; Fatal Outcome ; Female ; Gastrostomy ; Humans ; Hypopharyngeal Neoplasms/pathology ; Hypopharyngeal Neoplasms/therapy ; Lamin Type A/genetics ; Laryngectomy ; Lipodystrophy, Familial Partial/genetics ; Pharyngectomy ; Squamous Cell Carcinoma of Head and Neck/pathology ; Squamous Cell Carcinoma of Head and Neck/therapy ; Tracheostomy
Czasopismo naukowe
Tytuł :
Evidence of ongoing complement activation on adipose tissue from an 11-year-old girl with Barraquer-Simons syndrome.
Autorzy :
Corvillo F; Complement Research Group, Hospital La Paz Institute for Health Research (IdiPAZ), La Paz University Hospital, Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER U754), Madrid, Spain.
Nozal P; Complement Research Group, Hospital La Paz Institute for Health Research (IdiPAZ), La Paz University Hospital, Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER U754), Madrid, Spain.; Unit of Immunology, La Paz University Hospital, Madrid, Spain.
López-Lera A; Complement Research Group, Hospital La Paz Institute for Health Research (IdiPAZ), La Paz University Hospital, Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER U754), Madrid, Spain.
De Miguel MP; Cell Engineering Laboratory, La Paz University Hospital Research Institute, IdiPAZ, Madrid, Spain.
Piñero-Fernández JA; Department of Nephrology, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain.
De Lucas R; Departments of, Department of, Dermatology, La Paz University Hospital Madrid, Madrid, Spain.
García-Concepción MD; Department of, Pathology, La Paz University Hospital Madrid, Madrid, Spain.
Beato MJ; Department of, Pathology, La Paz University Hospital Madrid, Madrid, Spain.
Araújo-Vilar D; Thyroid and Metabolic Diseases Unit (U.E.T.eM.), Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS)-IDIS, University of Santiago de Compostela School of Medicine, Universidad de Santiago de Compostela, Santiago de Compostela, Spain.
López-Trascasa M; Complement Research Group, Hospital La Paz Institute for Health Research (IdiPAZ), La Paz University Hospital, Madrid, Spain.; Universidad Autónoma de Madrid, Madrid, Spain.
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Źródło :
The Journal of dermatology [J Dermatol] 2020 Dec; Vol. 47 (12), pp. 1439-1444. Date of Electronic Publication: 2020 Sep 05.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Lipodystrophy*
Adipose Tissue ; Child ; Complement Activation ; Complement C3 Nephritic Factor ; Female ; Humans
SCR Disease Name :
Lipodystrophy, Partial, Acquired
Czasopismo naukowe
Tytuł :
Depletion of Adipocyte Becn1 Leads to Lipodystrophy and Metabolic Dysregulation.
Autorzy :
Jin Y; Department of Biochemistry, College of Life Science and Biotechnology, Yonsei University, Seoul, Republic of Korea.
Ji Y; Department of Biological Sciences, Center for Adipocyte Structure-Function, Institute of Molecular Biology and Genetics, Seoul National University, Seoul, Republic of Korea.
Song Y; Department of Biochemistry, College of Life Science and Biotechnology, Yonsei University, Seoul, Republic of Korea.
Choe SS; Department of Biological Sciences, Center for Adipocyte Structure-Function, Institute of Molecular Biology and Genetics, Seoul National University, Seoul, Republic of Korea.
Jeon YG; Department of Biological Sciences, Center for Adipocyte Structure-Function, Institute of Molecular Biology and Genetics, Seoul National University, Seoul, Republic of Korea.
Na H; Department of Biochemistry, College of Life Science and Biotechnology, Yonsei University, Seoul, Republic of Korea.
Nam TW; Department of Biochemistry, College of Life Science and Biotechnology, Yonsei University, Seoul, Republic of Korea.
Kim HJ; Department of Biochemistry, College of Life Science and Biotechnology, Yonsei University, Seoul, Republic of Korea.
Nahmgoong H; Department of Biological Sciences, Center for Adipocyte Structure-Function, Institute of Molecular Biology and Genetics, Seoul National University, Seoul, Republic of Korea.
Kim SM; Department of Biological Sciences, Center for Adipocyte Structure-Function, Institute of Molecular Biology and Genetics, Seoul National University, Seoul, Republic of Korea.
Kim JW; Department of Biochemistry and Molecular Biology, Brain Korea 21 PLUS Project for Medical Science, Yonsei University College of Medicine, Seoul, Republic of Korea.
Nam KT; Severance Biomedical Science Institute, Brain Korea 21 PLUS Project for Medical Science, Yonsei University College of Medicine, Seoul, Republic of Korea.
Seong JK; Korea Mouse Phenotyping Center, Seoul National University, Seoul, Republic of Korea.
Hwang D; Department of Biological Sciences, Seoul National University, Seoul, Republic of Korea.
Park CB; Department of Physiology, Ajou University School of Medicine, Suwon, Republic of Korea.
Lee IH; Department of Life Sciences, Ewha Womans University, Seoul, Republic of Korea.
Kim JB; Department of Biological Sciences, Center for Adipocyte Structure-Function, Institute of Molecular Biology and Genetics, Seoul National University, Seoul, Republic of Korea .
Lee HW; Department of Biochemistry, College of Life Science and Biotechnology, Yonsei University, Seoul, Republic of Korea .
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Źródło :
Diabetes [Diabetes] 2021 Jan; Vol. 70 (1), pp. 182-195. Date of Electronic Publication: 2020 Oct 12.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Adipocytes/*metabolism
Adipose Tissue, White/*metabolism
Beclin-1/*metabolism
Insulin Resistance/*genetics
Lipodystrophy/*metabolism
Metabolic Diseases/*metabolism
Animals ; Beclin-1/genetics ; Fatty Liver/genetics ; Fatty Liver/metabolism ; Homeostasis/genetics ; Inflammation/genetics ; Inflammation/metabolism ; Lipodystrophy/genetics ; Metabolic Diseases/genetics ; Mice ; Mice, Knockout
Czasopismo naukowe
Tytuł :
Self-reported lipodystrophy, nutritional, lipemic profile and its impact on the body image of HIV-1-infected persons, with and without antiretroviral therapy.
Autorzy :
Soares LR; Department of Nutrition, Clinical Nutrition Program, Clinical Research from FMABC, Universidade Federal do Rio de Janeiro, Macaé, Brasil.
Casseb JSDR; Dermatology Department, Faculdade de Medicina da Universidade de São Paulo/FMUSP. São Paulo, Brazil.
Chaba DCDS; Nursing Graduate in Health Sciences, Instituto de Medicina Tropical from the Faculty of Medicine, USP, São Paulo, Brasil.
Batista LO; Department of Nutrition, Basic Nutrition and Dietetics Program, Universidade Federal do Rio de Janeiro, Macaé, Brasil.
Sousa LVA; Faculdade de Medicina do ABC, FMABC, Santo André, Brasil.
Fonseca FLA; Department of Pathology and Clinical Analysis, Campus Diadema, Universidade Federal de São Paulo, FMABC, Santo André, Brasil.
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Źródło :
AIDS care [AIDS Care] 2020 Oct; Vol. 32 (10), pp. 1317-1322. Date of Electronic Publication: 2019 Nov 11.
Typ publikacji :
Journal Article
MeSH Terms :
HIV Infections*/drug therapy
HIV-1*
HIV-Associated Lipodystrophy Syndrome*/chemically induced
Lipodystrophy*/chemically induced
Adult ; Antiretroviral Therapy, Highly Active/adverse effects ; Body Image ; Cross-Sectional Studies ; Female ; Humans ; Male ; Self Report
Czasopismo naukowe
Tytuł :
[Recognize rare diseases by the adipose tissue : Lipodystrophy-actually simple but nevertheless often overlooked].
Autorzy :
Wabitsch M; Zentrum für Seltene Endokrine Erkrankungen (ZSEE), Sektion Pädiatrische Endokrinologie und Diabetologie, Universitätsklinik für Kinder- und Jugendmedizin, Universitätsklinikum Ulm, Eythstr. 24, 89075, Ulm, Deutschland. .
V Schnurbein J; Zentrum für Seltene Endokrine Erkrankungen (ZSEE), Sektion Pädiatrische Endokrinologie und Diabetologie, Universitätsklinik für Kinder- und Jugendmedizin, Universitätsklinikum Ulm, Eythstr. 24, 89075, Ulm, Deutschland.
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Transliterated Title :
Seltene Erkrankungen am Fettgewebe erkennen : Lipodystrophie – eigentlich einfach und dennoch oft übersehen.
Źródło :
Der Internist [Internist (Berl)] 2020 Oct; Vol. 61 (10), pp. 1063-1075.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Diabetes Mellitus, Lipoatrophic*
Insulin Resistance*
Lipodystrophy*/diagnosis
Lipodystrophy*/etiology
Lipodystrophy*/metabolism
Lipodystrophy*/therapy
Adipose Tissue/*metabolism
Adipose Tissue/pathology ; Diabetes Mellitus, Type 2 ; Humans ; Rare Diseases
Czasopismo naukowe
Tytuł :
Heterozygous deletion of Seipin in islet beta cells of male mice has an impact on insulin synthesis and secretion through reduced PPARγ expression.
Autorzy :
Xiong J; State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China.; Department of Obstetrics and Gynecology, The First Affiliated Hospital of Nanjing Medical University, Nanjing Medical University, Nanjing, China.
Sun P; Key Laboratory of Human Functional Genomics of Jiangsu Province, Department of Biochemistry and Molecular Biology, Nanjing Medical University, Nanjing, China.
Wang Y; Department of Physiology, Nanjing Medical University, Longmian Road 101, Nanjing, 211166, China.
Hua X; Department of Physiology, Nanjing Medical University, Longmian Road 101, Nanjing, 211166, China.
Song W; Key Laboratory of Human Functional Genomics of Jiangsu Province, Department of Biochemistry and Molecular Biology, Nanjing Medical University, Nanjing, China.
Wang Y; Key Laboratory of Human Functional Genomics of Jiangsu Province, Department of Biochemistry and Molecular Biology, Nanjing Medical University, Nanjing, China.
Wu J; Department of Obstetrics and Gynecology, The First Affiliated Hospital of Nanjing Medical University, Nanjing Medical University, Nanjing, China.
Yu W; Key Laboratory of Medical Molecular Biology, Guizhou Medical University, Guiyang, 550004, China. .
Liu G; Institute of Cardiovascular Sciences, Peking University and Key Laboratory of Cardiovascular Sciences, China Administration of Education, Beijing, 100191, China. .
Chen L; State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, China. .; Department of Physiology, Nanjing Medical University, Longmian Road 101, Nanjing, 211166, China. .
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Źródło :
Diabetologia [Diabetologia] 2020 Feb; Vol. 63 (2), pp. 338-350. Date of Electronic Publication: 2019 Nov 27.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
GTP-Binding Protein gamma Subunits/*metabolism
Insulin/*metabolism
Lipodystrophy, Congenital Generalized/*drug therapy
PPAR gamma/*metabolism
Adipose Tissue/metabolism ; Animals ; Female ; GTP-Binding Protein gamma Subunits/genetics ; Insulin Resistance/genetics ; Insulin Resistance/physiology ; Islets of Langerhans/drug effects ; Islets of Langerhans/metabolism ; Lipodystrophy/metabolism ; Lipodystrophy, Congenital Generalized/genetics ; Lipodystrophy, Congenital Generalized/metabolism ; Male ; Mice ; Rosiglitazone/therapeutic use
Czasopismo naukowe
Tytuł :
Lipodystrophies-Disorders of the Fatty Tissue.
Autorzy :
Knebel B; German Diabetes-Center, Leibniz Center for Diabetes Research at Heinrich-Heine-University Düsseldorf, 40225 Düsseldorf, Germany.; Institute for Clinical Biochemistry and Pathobiochemistry, 40225 Düsseldorf, Germany.; German Center for Diabetes Research (DZD), 85764 München-Neuherberg, Germany.
Müller-Wieland D; Clinical Research Center, Department of Internal Medicine I, University Hospital Aachen, 52074 Aachen, Germany.
Kotzka J; German Diabetes-Center, Leibniz Center for Diabetes Research at Heinrich-Heine-University Düsseldorf, 40225 Düsseldorf, Germany.; German Center for Diabetes Research (DZD), 85764 München-Neuherberg, Germany.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2020 Nov 20; Vol. 21 (22). Date of Electronic Publication: 2020 Nov 20.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Atherosclerosis/*genetics
Coronary Disease/*genetics
Diabetes Mellitus/*genetics
Fatty Liver/*genetics
Hypertriglyceridemia/*genetics
Lipodystrophy/*genetics
Acyltransferases/deficiency ; Acyltransferases/genetics ; Adipose Tissue/metabolism ; Adipose Tissue/pathology ; Animals ; Atherosclerosis/etiology ; Atherosclerosis/metabolism ; Atherosclerosis/pathology ; Body Fat Distribution ; Coronary Disease/etiology ; Coronary Disease/metabolism ; Coronary Disease/pathology ; Diabetes Mellitus/etiology ; Diabetes Mellitus/metabolism ; Diabetes Mellitus/pathology ; Disease Models, Animal ; Fatty Liver/complications ; Fatty Liver/metabolism ; Fatty Liver/pathology ; Humans ; Hypertriglyceridemia/complications ; Hypertriglyceridemia/metabolism ; Hypertriglyceridemia/pathology ; Insulin Resistance ; Lamin Type A/deficiency ; Lamin Type A/genetics ; Lipid Metabolism/genetics ; Lipodystrophy/complications ; Lipodystrophy/metabolism ; Lipodystrophy/pathology ; Pancreatitis/etiology ; Pancreatitis/genetics ; Pancreatitis/metabolism ; Pancreatitis/pathology ; Xanthomatosis/etiology ; Xanthomatosis/genetics ; Xanthomatosis/metabolism ; Xanthomatosis/pathology
Czasopismo naukowe
Tytuł :
Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome.
Autorzy :
Ferranti S; Dipartimento di Medicina Molecolare e dello Sviluppo, Universita' degli Studi di Siena, viale Bracci 16, 53100, Siena, Italy. .
Lo Rizzo C; Genetica Medica, Azienda Ospedaliera Universitaria Senese, viale Bracci 2, 53100, Siena, Italy.
Renieri A; Genetica Medica, Azienda Ospedaliera Universitaria Senese, viale Bracci 2, 53100, Siena, Italy.; Medical Genetics, University of Siena, viale Bracci 2, 53100, Siena, Italy.
Galluzzi P; U.O.C. Neuroimmagini e Neurointerventistica (NINT), Azienda Ospedaliera Universitaria Senese, viale Bracci 16, 53100, Siena, Italy.
Grosso S; Dipartimento di Medicina Molecolare e dello Sviluppo, Universita' degli Studi di Siena, viale Bracci 16, 53100, Siena, Italy.; U.O.C. Pediatria, Azienda Ospedaliera Universitaria Senese, viale Bracci 16, 53100, Siena, Italy.
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Źródło :
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2020 Nov; Vol. 41 (11), pp. 3345-3348. Date of Electronic Publication: 2020 May 21.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
GTP-Binding Protein gamma Subunits*/genetics
Lipodystrophy, Congenital Generalized*/complications
Lipodystrophy, Congenital Generalized*/diagnosis
Lipodystrophy, Congenital Generalized*/genetics
Myoclonic Epilepsies, Progressive*/genetics
Adipose Tissue ; Adolescent ; Child ; Humans ; Phenotype
Czasopismo naukowe
Tytuł :
A Rare Case Of Berardinelli Seip Syndrome.
Autorzy :
Bibi S; Department of Pediatrics, Ayub Medical College, Abbottabad, Pakistan.
Balti D; Department of Pediatrics, Ayub Medical College, Abbottabad, Pakistan.
Mohammad K; Department of Pediatrics, Ayub Medical College, Abbottabad, Pakistan.
Iqbal A; Department of Pediatrics, Ayub Medical College, Abbottabad, Pakistan.
Gillani S; Department of Pediatrics, Ayub Medical College, Abbottabad, Pakistan.
Siddiqui TS; Department of Pediatrics, Ayub Medical College, Abbottabad, Pakistan.
Babar G; Children Mercy Hospital and Clinics, Kansas City, United States.
Hussain Gilani SY; Department of Medicine, Ayub Medical College, Abbottabad, Pakistan.
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Źródło :
Journal of Ayub Medical College, Abbottabad : JAMC [J Ayub Med Coll Abbottabad] 2020 Oct-Dec; Vol. 32 (4), pp. 577-579.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Diet, Fat-Restricted*
Lipodystrophy, Congenital Generalized/*diagnosis
Lipodystrophy, Congenital Generalized/*therapy
Child, Preschool ; Hepatomegaly/etiology ; Humans ; Hypoglycemic Agents/therapeutic use ; Leptin/therapeutic use ; Lipodystrophy, Congenital Generalized/complications ; Male ; Metformin/therapeutic use
Czasopismo naukowe
Tytuł :
Increased Growth Differentiation Factor 15 in Patients with Hypoleptinemia-Associated Lipodystrophy.
Autorzy :
Kralisch S; Medical Department-Endocrinology, Nephrology, Rheumatology, University of Leipzig, 04103 Leipzig, Germany.; IFB AdiposityDiseases, Leipzig University Medical Center, University of Leipzig, 04103 Leipzig, Germany.
Hoffmann A; Medical Department-Endocrinology, Nephrology, Rheumatology, University of Leipzig, 04103 Leipzig, Germany.
Estrada-Kunz J; Medical Department-Endocrinology, Nephrology, Rheumatology, University of Leipzig, 04103 Leipzig, Germany.
Stumvoll M; Medical Department-Endocrinology, Nephrology, Rheumatology, University of Leipzig, 04103 Leipzig, Germany.
Fasshauer M; Medical Department-Endocrinology, Nephrology, Rheumatology, University of Leipzig, 04103 Leipzig, Germany.; IFB AdiposityDiseases, Leipzig University Medical Center, University of Leipzig, 04103 Leipzig, Germany.; Department of Nutritional Sciences, University of Giessen, 35390 Gieβen, Germany.
Tönjes A; Medical Department-Endocrinology, Nephrology, Rheumatology, University of Leipzig, 04103 Leipzig, Germany.
Miehle K; Medical Department-Endocrinology, Nephrology, Rheumatology, University of Leipzig, 04103 Leipzig, Germany.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2020 Sep 29; Vol. 21 (19). Date of Electronic Publication: 2020 Sep 29.
Typ publikacji :
Journal Article
MeSH Terms :
Growth Differentiation Factor 15/*blood
Leptin/*blood
Lipodystrophy/*blood
Obesity/*blood
Sterol Regulatory Element Binding Protein 2/*genetics
Adipose Tissue/metabolism ; Animals ; Biomarkers/blood ; C-Reactive Protein/metabolism ; Female ; Gene Expression Regulation/genetics ; Glycated Hemoglobin A/metabolism ; Growth Differentiation Factor 15/genetics ; Humans ; Insulin Resistance/genetics ; Lipodystrophy/genetics ; Lipodystrophy/pathology ; Male ; Mice ; Mice, Transgenic ; Middle Aged ; Obesity/genetics ; Obesity/pathology ; Triglycerides/blood
Czasopismo naukowe
Tytuł :
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.
Autorzy :
Elouej S; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.
Harhouri K; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.
Le Mao M; MitoLab, Mitochondrial Medicine Research Centre, Institut MITOVASC, CNRS UMR 6015, INSERM U1083, Université d'Angers, CHU d'Angers, Angers, France.
Baujat G; Department of Medical Genetics, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, IMAGINE Institute, Necker Enfants Malades Hospital, Paris, France.
Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, AIMS Ponekkara PO Cochin, Kerala, India.
Kayserili H; Medical Genetics Department, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.
Menabawy NA; Neurology and Metabolic Division, Cairo University Children Hospital, Cairo, Egypt.
Selim L; Neurology and Metabolic Division, Cairo University Children Hospital, Cairo, Egypt.
Paneque AL; Medical Genetics Service Specialties Hospital FF AA No.1, Quito, Ecuador.
Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Rubinsztajn R; Pole of Anesthesiology and Reanimation, Necker Enfants Malades Hospital, Paris, France.
Charar C; Department of Genetics, Institute of Life Sciences, Hebrew University of Jerusalem, Jerusalem, Israel.
Bartoli C; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.
Airault C; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.
Deleuze JF; Centre National de Recherche en Génomique Humaine (CNRGH) and Centre d'Etude du Polymorphisme Humain (CEPH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay and Fondation Jean Dausset, Paris, France.
Rötig A; INSERM UMR1163, Institut Imagine, Paris, France.
Bauer P; CENTOGENE AG, Rostock, Germany.
Pereira C; CENTOGENE AG, Rostock, Germany.
Loh A; Institute of Medical Biology, A*STAR, Singapore, Singapore.
Escande-Beillard N; Medical Genetics Department, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.; Institute of Medical Biology, A*STAR, Singapore, Singapore.
Muchir A; Sorbonne Université, INSERM, Institute of Myology, Center of Research in Myology, Paris, France.
Martino L; CeleScreen SAS, Paris, France.
Gruenbaum Y; Department of Genetics, Institute of Life Sciences, Hebrew University of Jerusalem, Jerusalem, Israel.
Lee SH; CeleScreen SAS, Paris, France.
Manivet P; CeleScreen SAS, Paris, France.; APHP, Biobank Lariboisière BB-0033-00064, Platform of BioPathology and Innovative Technologies in Health, Hôpital Lariboisière, Paris, France.; INSERM UMR1141 « NeuroDiderot », Université de Paris, Paris, France.
Lenaers G; MitoLab, Mitochondrial Medicine Research Centre, Institut MITOVASC, CNRS UMR 6015, INSERM U1083, Université d'Angers, CHU d'Angers, Angers, France.
Reversade B; Medical Genetics Department, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.; Institute of Medical Biology, A*STAR, Singapore, Singapore.
Lévy N; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France.; Department of Medical Genetics, La Timone Children's Hospital, Marseille, France.
De Sandre-Giovannoli A; Aix Marseille Univ, INSERM, MMG, U1251, Marseille, France. .; Department of Medical Genetics, La Timone Children's Hospital, Marseille, France. .; Biological Resource Center (CRB-TAC), Assistance Publique Hôpitaux de Marseille, La Timone Children's Hospital, Marseille, France. .
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Źródło :
Nature communications [Nat Commun] 2020 Sep 11; Vol. 11 (1), pp. 4589. Date of Electronic Publication: 2020 Sep 11.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Acro-Osteolysis/*metabolism
Genetic Predisposition to Disease/*genetics
Lipodystrophy/*metabolism
Mandible/*abnormalities
Membrane Proteins/*metabolism
Mitochondria/*metabolism
Mitochondrial Proteins/*metabolism
Acro-Osteolysis/diagnostic imaging ; Acro-Osteolysis/genetics ; Acro-Osteolysis/pathology ; Aging, Premature/genetics ; Aging, Premature/metabolism ; Animals ; Apoptosis ; Caenorhabditis elegans ; Cell Proliferation ; Child ; Down-Regulation ; Female ; Fibroblasts/metabolism ; Fibroblasts/pathology ; Gene Expression Regulation ; Genotype ; Homozygote ; Humans ; Lipodystrophy/diagnostic imaging ; Lipodystrophy/genetics ; Lipodystrophy/pathology ; Male ; Mandible/diagnostic imaging ; Membrane Proteins/genetics ; Metalloendopeptidases ; Mitochondrial Membrane Transport Proteins/genetics ; Mitochondrial Proteins/genetics ; Mutation ; Phenotype ; Skin ; Whole Genome Sequencing
SCR Disease Name :
Mandibuloacral dysplasia with type A lipodystrophy
Czasopismo naukowe
Tytuł :
Comorbidities and Survival in Patients With Lipodystrophy: An International Chart Review Study.
Autorzy :
Akinci B; Dokuz Eylül University, Izmir, Turkey.
Oral EA; Division of Metabolism, Endocrine & Diabetes and Brehm Center for Diabetes Research, Department of Internal Medicine, Michigan Medicine, University of Michigan, Ann Arbor, Michigan.
Neidert A; Division of Metabolism, Endocrine & Diabetes and Brehm Center for Diabetes Research, Department of Internal Medicine, Michigan Medicine, University of Michigan, Ann Arbor, Michigan.
Rus D; Division of Metabolism, Endocrine & Diabetes and Brehm Center for Diabetes Research, Department of Internal Medicine, Michigan Medicine, University of Michigan, Ann Arbor, Michigan.
Cheng WY; Analysis Group Inc., Boston, Massachusetts.
Thompson-Leduc P; Analysis Group Inc., Boston, Massachusetts.
Cheung HC; Analysis Group Inc., Boston, Massachusetts.
Bradt P; Aegerion Pharmaceuticals Inc., Cambridge, Massachusetts.
Foss de Freitas MC; University of São Paulo-Ribeirao Preto Medical School, São Paulo, Brazil.
Montenegro RM; Federal University of Ceará, Ceará, Brazil.
Fernandes VO; Federal University of Ceará, Ceará, Brazil.
Cochran E; National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland.
Brown RJ; National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland.
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Źródło :
The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2019 Nov 01; Vol. 104 (11), pp. 5120-5135.
Typ publikacji :
Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Lipodystrophy/*complications
Lipodystrophy/*mortality
Adolescent ; Adult ; Age of Onset ; Aged ; Comorbidity ; Diabetes Complications/epidemiology ; Diabetes Complications/mortality ; Disease Progression ; Female ; Genetic Testing ; Humans ; Insulin Resistance ; Kaplan-Meier Estimate ; Lipodystrophy/epidemiology ; Lipodystrophy, Congenital Generalized/epidemiology ; Lipodystrophy, Congenital Generalized/mortality ; Male ; Middle Aged ; Prevalence ; Retrospective Studies ; Survival Analysis ; Treatment Outcome ; Young Adult
SCR Disease Name :
Lipodystrophy, Partial, Acquired
Czasopismo naukowe
Tytuł :
Comparing Efficacy and Costs of Four Facial Fillers in Human Immunodeficiency Virus-Associated Lipodystrophy: A Clinical Trial.
Autorzy :
Pavlidis L; Aristotle University of Thessaloniki, Thessaloniki, Greece.
Spyropoulou GA
Demiri E
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Źródło :
Plastic and reconstructive surgery [Plast Reconstr Surg] 2018 Oct; Vol. 142 (4), pp. 583e-584e.
Typ publikacji :
Letter; Comment
MeSH Terms :
Face*
HIV-Associated Lipodystrophy Syndrome*
HIV ; Humans ; Lipodystrophy ; Treatment Outcome
Opinia redakcyjna
Tytuł :
Reply: Comparing Efficacy and Costs of Four Facial Fillers in Human Immunodeficiency Virus-Associated Lipodystrophy: A Clinical Trial.
Autorzy :
Vallejo A; Department of Plastic Surgery, University Hospital Gregorio Marañón, Madrid, Spain.
Garcia-Ruano AA
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Źródło :
Plastic and reconstructive surgery [Plast Reconstr Surg] 2018 Oct; Vol. 142 (4), pp. 584e.
Typ publikacji :
Letter; Comment
MeSH Terms :
Face*
HIV-Associated Lipodystrophy Syndrome*
HIV ; Humans ; Lipodystrophy ; Treatment Outcome
Opinia redakcyjna
Tytuł :
[Identification of a novel AGPAT2 variant in a Chinese patient with congenital generalized lipodystrophy type 1].
Autorzy :
Wang Y; Department of Endocrinology, Children's Hospital Affiliated to Capital Institute of Pediatrics, Beijing 100020, China. .
Zhu Y
Bai J
Liu Z
Chen X
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Źródło :
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2020 Oct 10; Vol. 37 (10), pp. 1158-1161.
Typ publikacji :
Journal Article
MeSH Terms :
Lipodystrophy, Congenital Generalized*/genetics
Acyltransferases/*genetics
Exons ; Female ; Humans ; Infant ; Mutation
Czasopismo naukowe

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