Characterisation of non-obese diabetic patients with marked insulin resistance identifies a novel familial partial lipodystrophy-associated PPARγ mutation (Y151C)
Aims/hypothesis Familial partial lipodystrophy (FPLD) is a rare metabolic disorder with clinical features that may not be readily recognised. As FPLD patients require a specific therapeutic approach, early identification is warranted. In the present study we aimed to identify cases of FPLD among non...
Uložené v:
| Vydané v: | Diabetologia Ročník 54; číslo 7; s. 1639 - 1644 |
|---|---|
| Hlavní autori: | , , , , , , , |
| Médium: | Journal Article |
| Jazyk: | English |
| Vydavateľské údaje: |
Berlin/Heidelberg
Springer-Verlag
01.07.2011
Springer |
| Predmet: | |
| ISSN: | 0012-186X, 1432-0428, 1432-0428 |
| On-line prístup: | Získať plný text |
| Tagy: |
Pridať tag
Žiadne tagy, Buďte prvý, kto otaguje tento záznam!
|
| Abstract | Aims/hypothesis
Familial partial lipodystrophy (FPLD) is a rare metabolic disorder with clinical features that may not be readily recognised. As FPLD patients require a specific therapeutic approach, early identification is warranted. In the present study we aimed to identify cases of FPLD among non-obese patients with type 2 diabetes mellitus and marked insulin resistance.
Methods
We searched the databases of three diabetic outpatient clinics for patients with marked insulin resistance, arbitrarily defined as the use of ≥100 U insulin/day, and BMI ≤ 27 kg/m
2
. In all patients, metabolic variables and anthropomorphic measurements were evaluated and DNA was sequenced for mutations in the genes encoding lamin A/C (LMNA), peroxisome proliferator-activated receptor γ (PPARγ) and cell death-inducing DFFA-like effector c (CIDEC).
Results
Out of 5,221 diabetic individuals, 24 patients fulfilled all criteria. Twelve patients were willing to participate, of whom five showed clinical features of lipodystrophy. In three of these patients the clinical diagnosis of FPLD was confirmed by the presence of mutations in
LMNA
or
PPARG
; one patient harboured a novel heterozygous mutation (Y151C) in
PPARG
. The Y151C mutant displayed impaired DNA-binding capacity and hence reduced transcriptional activity compared with wild-type PPARγ. Dominant-negative activity was absent.
Conclusion/interpretation
The combination of BMI ≤ 27 kg/m
2
and the use of >100 U insulin/day increases the chance of identifying lipodystrophy. Thus careful assessment of clinical features of FPLD should be considered in these patients, allowing earlier therapeutic interventions. |
|---|---|
| AbstractList | Aims/hypothesis: Familial partial lipodystrophy (FPLD) is a rare metabolic disorder with clinical features that may not be readily recognised. As FPLD patients require a specific therapeutic approach, early identification is warranted. In the present study we aimed to identify cases of FPLD among non-obese patients with type 2 diabetes mellitus and marked insulin resistance. Methods: We searched the databases of three diabetic outpatient clinics for patients with marked insulin resistance, arbitrarily defined as the use of greater than or equal to 100U insulin/day, and BMI less than or equal to 27kg/m super(2). In all patients, metabolic variables and anthropomorphic measurements were evaluated and DNA was sequenced for mutations in the genes encoding lamin A/C (LMNA), peroxisome proliferator-activated receptor gamma (PPAR gamma ) and cell death-inducing DFFA-like effector c (CIDEC). Results: Out of 5,221 diabetic individuals, 24 patients fulfilled all criteria. Twelve patients were willing to participate, of whom five showed clinical features of lipodystrophy. In three of these patients the clinical diagnosis of FPLD was confirmed by the presence of mutations in LMNA or PPARG; one patient harboured a novel heterozygous mutation (Y151C) in PPARG. The Y151C mutant displayed impaired DNA-binding capacity and hence reduced transcriptional activity compared with wild-type PPAR gamma . Dominant-negative activity was absent. Conclusion/interpretation: The combination of BMI less than or equal to 27kg/m super(2) and the use of >100U insulin/day increases the chance of identifying lipodystrophy. Thus careful assessment of clinical features of FPLD should be considered in these patients, allowing earlier therapeutic interventions. Aims/hypothesis Familial partial lipodystrophy (FPLD) is a rare metabolic disorder with clinical features that may not be readily recognised. As FPLD patients require a specific therapeutic approach, early identification is warranted. In the present study we aimed to identify cases of FPLD among non-obese patients with type 2 diabetes mellitus and marked insulin resistance. Methods We searched the databases of three diabetic outpatient clinics for patients with marked insulin resistance, arbitrarily defined as the use of ≥100 U insulin/day, and BMI ≤ 27 kg/m 2 . In all patients, metabolic variables and anthropomorphic measurements were evaluated and DNA was sequenced for mutations in the genes encoding lamin A/C (LMNA), peroxisome proliferator-activated receptor γ (PPARγ) and cell death-inducing DFFA-like effector c (CIDEC). Results Out of 5,221 diabetic individuals, 24 patients fulfilled all criteria. Twelve patients were willing to participate, of whom five showed clinical features of lipodystrophy. In three of these patients the clinical diagnosis of FPLD was confirmed by the presence of mutations in LMNA or PPARG ; one patient harboured a novel heterozygous mutation (Y151C) in PPARG . The Y151C mutant displayed impaired DNA-binding capacity and hence reduced transcriptional activity compared with wild-type PPARγ. Dominant-negative activity was absent. Conclusion/interpretation The combination of BMI ≤ 27 kg/m 2 and the use of >100 U insulin/day increases the chance of identifying lipodystrophy. Thus careful assessment of clinical features of FPLD should be considered in these patients, allowing earlier therapeutic interventions. Familial partial lipodystrophy (FPLD) is a rare metabolic disorder with clinical features that may not be readily recognised. As FPLD patients require a specific therapeutic approach, early identification is warranted. In the present study we aimed to identify cases of FPLD among non-obese patients with type 2 diabetes mellitus and marked insulin resistance.AIMS/HYPOTHESISFamilial partial lipodystrophy (FPLD) is a rare metabolic disorder with clinical features that may not be readily recognised. As FPLD patients require a specific therapeutic approach, early identification is warranted. In the present study we aimed to identify cases of FPLD among non-obese patients with type 2 diabetes mellitus and marked insulin resistance.We searched the databases of three diabetic outpatient clinics for patients with marked insulin resistance, arbitrarily defined as the use of ≥100 U insulin/day, and BMI ≤ 27 kg/m(2). In all patients, metabolic variables and anthropomorphic measurements were evaluated and DNA was sequenced for mutations in the genes encoding lamin A/C (LMNA), peroxisome proliferator-activated receptor γ (PPARγ) and cell death-inducing DFFA-like effector c (CIDEC).METHODSWe searched the databases of three diabetic outpatient clinics for patients with marked insulin resistance, arbitrarily defined as the use of ≥100 U insulin/day, and BMI ≤ 27 kg/m(2). In all patients, metabolic variables and anthropomorphic measurements were evaluated and DNA was sequenced for mutations in the genes encoding lamin A/C (LMNA), peroxisome proliferator-activated receptor γ (PPARγ) and cell death-inducing DFFA-like effector c (CIDEC).Out of 5,221 diabetic individuals, 24 patients fulfilled all criteria. Twelve patients were willing to participate, of whom five showed clinical features of lipodystrophy. In three of these patients the clinical diagnosis of FPLD was confirmed by the presence of mutations in LMNA or PPARG; one patient harboured a novel heterozygous mutation (Y151C) in PPARG. The Y151C mutant displayed impaired DNA-binding capacity and hence reduced transcriptional activity compared with wild-type PPARγ. Dominant-negative activity was absent.RESULTSOut of 5,221 diabetic individuals, 24 patients fulfilled all criteria. Twelve patients were willing to participate, of whom five showed clinical features of lipodystrophy. In three of these patients the clinical diagnosis of FPLD was confirmed by the presence of mutations in LMNA or PPARG; one patient harboured a novel heterozygous mutation (Y151C) in PPARG. The Y151C mutant displayed impaired DNA-binding capacity and hence reduced transcriptional activity compared with wild-type PPARγ. Dominant-negative activity was absent.The combination of BMI ≤ 27 kg/m(2) and the use of >100 U insulin/day increases the chance of identifying lipodystrophy. Thus careful assessment of clinical features of FPLD should be considered in these patients, allowing earlier therapeutic interventions.CONCLUSION/INTERPRETATIONThe combination of BMI ≤ 27 kg/m(2) and the use of >100 U insulin/day increases the chance of identifying lipodystrophy. Thus careful assessment of clinical features of FPLD should be considered in these patients, allowing earlier therapeutic interventions. Familial partial lipodystrophy (FPLD) is a rare metabolic disorder with clinical features that may not be readily recognised. As FPLD patients require a specific therapeutic approach, early identification is warranted. In the present study we aimed to identify cases of FPLD among non-obese patients with type 2 diabetes mellitus and marked insulin resistance. We searched the databases of three diabetic outpatient clinics for patients with marked insulin resistance, arbitrarily defined as the use of ≥100 U insulin/day, and BMI ≤ 27 kg/m(2). In all patients, metabolic variables and anthropomorphic measurements were evaluated and DNA was sequenced for mutations in the genes encoding lamin A/C (LMNA), peroxisome proliferator-activated receptor γ (PPARγ) and cell death-inducing DFFA-like effector c (CIDEC). Out of 5,221 diabetic individuals, 24 patients fulfilled all criteria. Twelve patients were willing to participate, of whom five showed clinical features of lipodystrophy. In three of these patients the clinical diagnosis of FPLD was confirmed by the presence of mutations in LMNA or PPARG; one patient harboured a novel heterozygous mutation (Y151C) in PPARG. The Y151C mutant displayed impaired DNA-binding capacity and hence reduced transcriptional activity compared with wild-type PPARγ. Dominant-negative activity was absent. The combination of BMI ≤ 27 kg/m(2) and the use of >100 U insulin/day increases the chance of identifying lipodystrophy. Thus careful assessment of clinical features of FPLD should be considered in these patients, allowing earlier therapeutic interventions. |
| Author | Visser, M. E. Monajemi, H. Koppen, A. Hamers, N. Kropman, E. Kalkhoven, E. Kranendonk, M. E. Stroes, E. S. |
| Author_xml | – sequence: 1 givenname: M. E. surname: Visser fullname: Visser, M. E. organization: Department of Vascular Medicine, Academic Medical Centre – sequence: 2 givenname: E. surname: Kropman fullname: Kropman, E. organization: Department of Vascular Medicine, Academic Medical Centre – sequence: 3 givenname: M. E. surname: Kranendonk fullname: Kranendonk, M. E. organization: Department of Metabolic and Endocrine Diseases and Netherlands Metabolomics Centre, University Medical Centre – sequence: 4 givenname: A. surname: Koppen fullname: Koppen, A. organization: Department of Metabolic and Endocrine Diseases and Netherlands Metabolomics Centre, University Medical Centre – sequence: 5 givenname: N. surname: Hamers fullname: Hamers, N. organization: Department of Metabolic and Endocrine Diseases and Netherlands Metabolomics Centre, University Medical Centre – sequence: 6 givenname: E. S. surname: Stroes fullname: Stroes, E. S. organization: Department of Vascular Medicine, Academic Medical Centre – sequence: 7 givenname: E. surname: Kalkhoven fullname: Kalkhoven, E. organization: Department of Metabolic and Endocrine Diseases and Netherlands Metabolomics Centre, University Medical Centre, Department of Pediatric Immunology, University Medical Centre – sequence: 8 givenname: H. surname: Monajemi fullname: Monajemi, H. email: h.monajemi@umcutrecht.nl organization: Department of Vascular Medicine, University Medical Centre |
| BackLink | http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=24273787$$DView record in Pascal Francis https://www.ncbi.nlm.nih.gov/pubmed/21479595$$D View this record in MEDLINE/PubMed |
| BookMark | eNp9ks1uEzEQxy1URNPAA3BBviDKYcH22vH2glRFFJAqUSGQ4GRNvN7GxVmntrcoz9NH4D14JiZsKB-HnOYwv_nPx3-OyEEfe0fIY85ecMb0y8wYF6pinFeCS1HJe2TCZS0qJkVzQCbbdMWb2edDcpTzFWOsVnL2gBwirU_UiZqQ2_kSEtjiks9QfOxp7Ci2qeLCZUdbDwtXvKVrTLq-ZPrNlyVdQfrqWur7PATf0-SyzwV666hvkfKdd5kC6ty4QDtY-eAhoEYq2xj8OrabXFJcLzcV5Byth4J6FxenH358p6uhjKMcf-GKz58_JPc7CNk92sUp-XT2-uP8bXX-_s27-el5ZRWTpdKdmimhm85BpxVbWMCb1LXVvJG2aXUNbQusntm6nWFwjQUtG6Y7DUxJUPWUvBp118Ni5VqLmyQIZp087rsxEbz5N9P7pbmMN6bmnAnNUeDZTiDF68HlYlY-WxcC9C4O2TTI6EbXEsnjvSRHTwVDVYbok7-nuhvnt4cIPN0BkC2ELqERPv_hpNC_uk4JHzmbYs7JdXcIZ2b7T2b8J4O9t-rCbOfU_9VYP5qDB_Bhb6UYKzN26S9dMldxSD36t6foJ7LX4i4 |
| CitedBy_id | crossref_primary_10_1016_j_diabet_2012_02_012 crossref_primary_10_1172_JCI129190 crossref_primary_10_3389_fphys_2018_01363 crossref_primary_10_1016_j_mce_2020_111109 crossref_primary_10_2337_db15_1422 crossref_primary_10_1111_cen_12837 crossref_primary_10_3390_ijms26115416 crossref_primary_10_3390_diagnostics12051122 crossref_primary_10_1007_s13105_015_0404_1 crossref_primary_10_1155_2013_601246 crossref_primary_10_1073_pnas_1410428111 crossref_primary_10_1002_j_2040_4603_2017_tb00782_x crossref_primary_10_3390_ijms25158020 crossref_primary_10_1080_07391102_2020_1835724 crossref_primary_10_1016_j_metabol_2017_04_010 crossref_primary_10_1016_j_bbalip_2019_02_002 crossref_primary_10_1210_jendso_bvac155 crossref_primary_10_1016_j_ando_2012_04_010 crossref_primary_10_3390_ijms18020361 crossref_primary_10_1016_j_molmet_2018_12_005 crossref_primary_10_1161_ATVBAHA_112_300962 crossref_primary_10_2337_dc12_1529 crossref_primary_10_1016_j_pcd_2015_12_006 crossref_primary_10_1126_scitranslmed_aay4145 crossref_primary_10_1111_febs_12500 crossref_primary_10_3389_fendo_2024_1394102 crossref_primary_10_3390_cells5020021 crossref_primary_10_1016_S0003_4266_16_30002_6 crossref_primary_10_4158_endp_19_1_v767575m65p5mr06 crossref_primary_10_1016_j_diabet_2018_08_003 crossref_primary_10_4239_wjd_v15_i12_2360 |
| Cites_doi | 10.1002/emmm.200900037 10.1210/jc.2006-1807 10.1210/jc.85.5.1776 10.1016/j.tem.2009.04.005 10.1016/j.metabol.2006.11.010 10.1126/science.1096706 10.1111/j.1365-2265.2007.03069.x 10.2165/00002018-200730100-00005 10.1111/j.1365-2265.2007.02906.x 10.1093/ajcn/34.11.2540 |
| ContentType | Journal Article |
| Copyright | The Author(s) 2011 2015 INIST-CNRS |
| Copyright_xml | – notice: The Author(s) 2011 – notice: 2015 INIST-CNRS |
| DBID | C6C AAYXX CITATION IQODW CGR CUY CVF ECM EIF NPM 7TS 7X8 5PM |
| DOI | 10.1007/s00125-011-2142-4 |
| DatabaseName | SpringerOpen Free (Free internet resource, activated by CARLI) CrossRef Pascal-Francis Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed Physical Education Index MEDLINE - Academic PubMed Central (Full Participant titles) |
| DatabaseTitle | CrossRef MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) Physical Education Index MEDLINE - Academic |
| DatabaseTitleList | Physical Education Index MEDLINE - Academic MEDLINE |
| Database_xml | – sequence: 1 dbid: NPM name: PubMed url: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: 7X8 name: MEDLINE - Academic url: https://search.proquest.com/medline sourceTypes: Aggregation Database |
| DeliveryMethod | fulltext_linktorsrc |
| Discipline | Medicine |
| EISSN | 1432-0428 |
| EndPage | 1644 |
| ExternalDocumentID | PMC3110271 21479595 24273787 10_1007_s00125_011_2142_4 |
| Genre | Research Support, Non-U.S. Gov't Journal Article |
| GroupedDBID | --- -53 -5E -5G -BR -EM -Y2 -~C .55 .86 .GJ .VR 06C 06D 0R~ 0VY 199 1CY 1N0 1SB 2.D 203 28- 29F 29G 29~ 2J2 2JN 2JY 2KG 2KM 2LR 2P1 2VQ 2~H 30V 36B 3O- 3V. 4.4 406 408 409 40D 40E 53G 5GY 5QI 5RE 5VS 67Z 6NX 78A 7X7 88E 8AO 8C1 8FI 8FJ 8TC 8UJ 95- 95. 95~ 96X A8Z AAAVM AABHQ AACDK AAEWM AAHNG AAIAL AAJBT AAJKR AANXM AANZL AARHV AARTL AASML AATNV AATVU AAUYE AAWCG AAYIU AAYQN AAYTO AAYZH ABAKF ABBBX ABBXA ABDZT ABECU ABFTV ABHLI ABHQN ABIPD ABJNI ABJOX ABKCH ABKTR ABLJU ABMNI ABMQK ABNWP ABOCM ABPLI ABQBU ABQSL ABSXP ABTEG ABTKH ABTMW ABULA ABUWG ABUWZ ABWNU ABXPI ACAOD ACBXY ACDTI ACGFS ACHSB ACHXU ACKNC ACMDZ ACMLO ACOKC ACOMO ACPIV ACPRK ACUDM ACZOJ ADBBV ADHHG ADHIR ADIMF ADINQ ADJJI ADKNI ADKPE ADRFC ADTPH ADURQ ADYFF ADZKW AEBTG AEFIE AEFQL AEGAL AEGNC AEJHL AEJRE AEKMD AEMSY AENEX AEOHA AEPYU AESKC AETLH AEVLU AEXYK AFBBN AFDYV AFEXP AFFNX AFJLC AFKRA AFLOW AFQWF AFWTZ AFZKB AGAYW AGDGC AGJBK AGMZJ AGQEE AGQMX AGRTI AGVAE AGWIL AGWZB AGYKE AHAVH AHBYD AHIZS AHKAY AHMBA AHSBF AHYZX AIAKS AIGIU AIIXL AILAN AITGF AJBLW AJRNO AJZVZ AKMHD ALIPV ALMA_UNASSIGNED_HOLDINGS ALWAN AMKLP AMXSW AMYLF AMYQR AOCGG ARMRJ ASPBG AVWKF AXYYD AZFZN B-. BA0 BBWZM BDATZ BENPR BGNMA BPHCQ BSONS BVXVI C6C CAG CCPQU COF CS3 CSCUP DDRTE DL5 DNIVK DPUIP EBLON EBS EIOEI EJD EMB EMOBN EN4 ESBYG F5P FEDTE FERAY FFXSO FIGPU FINBP FNLPD FRRFC FSGXE FWDCC FYUFA G-Y G-Z GGCAI GGRSB GJIRD GNWQR GQ6 GQ7 GQ8 GRRUI GXS H13 HF~ HG5 HG6 HMCUK HMJXF HQYDN HRMNR HVGLF HZ~ I09 IHE IJ- IKXTQ IMOTQ ITM IWAJR IXC IZIGR IZQ I~X I~Z J-C J0Z J5H JBSCW JCJTX JZLTJ KDC KOV KOW KPH L7B LAS LLZTM M1P M4Y MA- MVM N2Q N9A NB0 NDZJH NPVJJ NQJWS NU0 O9- O93 O9G O9I O9J OAM OVD P19 P2P P6G P9S PF0 PQQKQ PROAC PSQYO PT4 Q2X QOK QOR QOS R4E R89 R9I RHV RIG ROL RPX RRX RSV S16 S1Z S26 S27 S28 S37 S3B SAP SCLPG SDE SDH SDM SHX SISQX SJYHP SMD SNE SNPRN SNX SOHCF SOJ SPISZ SRMVM SSLCW SSXJD STPWE SV3 SZ9 SZN T13 T16 TEORI TR2 TSG TSK TSV TT1 TUC U2A U9L UG4 UKHRP UOJIU UTJUX UZXMN VC2 VFIZW W23 W48 WH7 WJK WK8 X7M YLTOR Z45 Z7U Z7V Z7W Z82 Z83 Z87 Z8O Z8P Z8Q Z8V Z8W Z91 Z92 ZGI ZMTXR ZOVNA ~EX ~KM AAPKM AAYXX ABBRH ABDBE ABFSG ABRTQ ACSTC ADHKG AEZWR AFDZB AFFHD AFHIU AFOHR AGQPQ AHPBZ AHWEU AIXLP ATHPR AYFIA CITATION PHGZM PHGZT PJZUB PPXIY IQODW CGR CUY CVF ECM EIF NPM 7TS ESTFP 7X8 PUEGO 5PM |
| ID | FETCH-LOGICAL-c504t-7f565278feaf750bca14233c7184c8d73adda036c3d6036e8ca74807f7a054a53 |
| IEDL.DBID | RSV |
| ISICitedReferencesCount | 39 |
| ISICitedReferencesURI | http://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=Summon&SrcAuth=ProQuest&DestLinkType=CitingArticles&DestApp=WOS_CPL&KeyUT=000291392000008&url=https%3A%2F%2Fcvtisr.summon.serialssolutions.com%2F%23%21%2Fsearch%3Fho%3Df%26include.ft.matches%3Dt%26l%3Dnull%26q%3D |
| ISSN | 0012-186X 1432-0428 |
| IngestDate | Tue Nov 04 01:44:40 EST 2025 Thu Oct 02 10:59:14 EDT 2025 Sun Nov 09 12:57:19 EST 2025 Thu Apr 03 06:59:10 EDT 2025 Mon Jul 21 09:18:30 EDT 2025 Sat Nov 29 03:24:18 EST 2025 Tue Nov 18 22:00:52 EST 2025 Fri Feb 21 02:35:23 EST 2025 |
| IsDoiOpenAccess | true |
| IsOpenAccess | true |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | 7 |
| Keywords | Y151C FPLD LMNA Insulin resistance Lipodystrophy Type 2 diabetes mellitus PPARγ BMI Endocrinopathy Type 2 diabetes Human Skin disease Metabolic diseases Target tissue resistance Adipose tissue disorders Mutation |
| Language | English |
| License | CC BY 4.0 This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited. |
| LinkModel | DirectLink |
| MergedId | FETCHMERGED-LOGICAL-c504t-7f565278feaf750bca14233c7184c8d73adda036c3d6036e8ca74807f7a054a53 |
| Notes | ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23 ObjectType-Article-1 ObjectType-Feature-2 |
| OpenAccessLink | https://link.springer.com/10.1007/s00125-011-2142-4 |
| PMID | 21479595 |
| PQID | 1011201020 |
| PQPubID | 23462 |
| PageCount | 6 |
| ParticipantIDs | pubmedcentral_primary_oai_pubmedcentral_nih_gov_3110271 proquest_miscellaneous_871378734 proquest_miscellaneous_1011201020 pubmed_primary_21479595 pascalfrancis_primary_24273787 crossref_primary_10_1007_s00125_011_2142_4 crossref_citationtrail_10_1007_s00125_011_2142_4 springer_journals_10_1007_s00125_011_2142_4 |
| PublicationCentury | 2000 |
| PublicationDate | 2011-07-01 |
| PublicationDateYYYYMMDD | 2011-07-01 |
| PublicationDate_xml | – month: 07 year: 2011 text: 2011-07-01 day: 01 |
| PublicationDecade | 2010 |
| PublicationPlace | Berlin/Heidelberg |
| PublicationPlace_xml | – name: Berlin/Heidelberg – name: Heidelberg – name: Germany |
| PublicationSubtitle | Clinical and Experimental Diabetes and Metabolism |
| PublicationTitle | Diabetologia |
| PublicationTitleAbbrev | Diabetologia |
| PublicationTitleAlternate | Diabetologia |
| PublicationYear | 2011 |
| Publisher | Springer-Verlag Springer |
| Publisher_xml | – name: Springer-Verlag – name: Springer |
| References | George, Rochford, Wolfrum (CR1) 2004; 304 Rubio-Cabezas, Puri, Murano (CR3) 2009; 1 Jeninga, Gurnell, Kalkhoven (CR9) 2009; 20 Frisancho (CR5) 1981; 34 Monajemi, Stroes, Hegele, Fliers (CR2) 2007; 67 Park, Javor, Cochran, DePaoli, Gorden (CR4) 2007; 56 Garg (CR6) 2000; 85 Monajemi, Zhang, Li (CR7) 2007; 92 Fardet, Kassar, Cabane, Flahault (CR8) 2007; 30 Zuccarello, Ferlin, Vinanzi (CR10) 2008; 68 L Fardet (2142_CR8) 2007; 30 D Zuccarello (2142_CR10) 2008; 68 S George (2142_CR1) 2004; 304 O Rubio-Cabezas (2142_CR3) 2009; 1 H Monajemi (2142_CR2) 2007; 67 AR Frisancho (2142_CR5) 1981; 34 H Monajemi (2142_CR7) 2007; 92 JY Park (2142_CR4) 2007; 56 EH Jeninga (2142_CR9) 2009; 20 A Garg (2142_CR6) 2000; 85 20049731 - EMBO Mol Med. 2009 Aug;1(5):280-7 17561981 - Clin Endocrinol (Oxf). 2007 Oct;67(4):479-84 17299075 - J Clin Endocrinol Metab. 2007 May;92(5):1606-12 6975564 - Am J Clin Nutr. 1981 Nov;34(11):2540-5 17867724 - Drug Saf. 2007;30(10):861-81 19748282 - Trends Endocrinol Metab. 2009 Oct;20(8):380-7 15166380 - Science. 2004 May 28;304(5675):1325-8 10843151 - J Clin Endocrinol Metab. 2000 May;85(5):1776-82 17379009 - Metabolism. 2007 Apr;56(4):508-16 17970778 - Clin Endocrinol (Oxf). 2008 Apr;68(4):580-8 |
| References_xml | – volume: 67 start-page: 479 year: 2007 end-page: 484 ident: CR2 article-title: Inherited lipodystrophies and the metabolic syndrome publication-title: Clin Endocrinol (Oxf) – volume: 1 start-page: 280 year: 2009 end-page: 287 ident: CR3 article-title: Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC publication-title: EMBO Mol Med doi: 10.1002/emmm.200900037 – volume: 92 start-page: 1606 year: 2007 end-page: 1612 ident: CR7 article-title: Familial partial lipodystrophy phenotype resulting from a single-base mutation in deoxyribonucleic acid-binding domain of peroxisome proliferator-activated receptor-gamma publication-title: J Clin Endocrinol Metab doi: 10.1210/jc.2006-1807 – volume: 85 start-page: 1776 year: 2000 end-page: 1782 ident: CR6 article-title: Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety) publication-title: J Clin Endocrinol Metab doi: 10.1210/jc.85.5.1776 – volume: 20 start-page: 380 year: 2009 end-page: 387 ident: CR9 article-title: Functional implications of genetic variation in human PPARgamma publication-title: Trends Endocrinol Metab doi: 10.1016/j.tem.2009.04.005 – volume: 56 start-page: 508 year: 2007 end-page: 516 ident: CR4 article-title: Long-term efficacy of leptin replacement in patients with Dunnigan-type familial partial lipodystrophy publication-title: Metabolism doi: 10.1016/j.metabol.2006.11.010 – volume: 34 start-page: 2540 year: 1981 end-page: 2545 ident: CR5 article-title: New norms of upper limb fat and muscle areas for assessment of nutritional status publication-title: Am J Clin Nutr – volume: 304 start-page: 1325 year: 2004 end-page: 1328 ident: CR1 article-title: A family with severe insulin resistance and diabetes due to a mutation in AKT2 publication-title: Science doi: 10.1126/science.1096706 – volume: 68 start-page: 580 year: 2008 end-page: 588 ident: CR10 article-title: Detailed functional studies on androgen receptor mild mutations demonstrate their association with male infertility publication-title: Clin Endocrinol (Oxf) doi: 10.1111/j.1365-2265.2007.03069.x – volume: 30 start-page: 861 year: 2007 end-page: 881 ident: CR8 article-title: Corticosteroid-induced adverse events in adults: frequency, screening and prevention publication-title: Drug Saf doi: 10.2165/00002018-200730100-00005 – volume: 56 start-page: 508 year: 2007 ident: 2142_CR4 publication-title: Metabolism doi: 10.1016/j.metabol.2006.11.010 – volume: 30 start-page: 861 year: 2007 ident: 2142_CR8 publication-title: Drug Saf doi: 10.2165/00002018-200730100-00005 – volume: 68 start-page: 580 year: 2008 ident: 2142_CR10 publication-title: Clin Endocrinol (Oxf) doi: 10.1111/j.1365-2265.2007.03069.x – volume: 92 start-page: 1606 year: 2007 ident: 2142_CR7 publication-title: J Clin Endocrinol Metab doi: 10.1210/jc.2006-1807 – volume: 67 start-page: 479 year: 2007 ident: 2142_CR2 publication-title: Clin Endocrinol (Oxf) doi: 10.1111/j.1365-2265.2007.02906.x – volume: 20 start-page: 380 year: 2009 ident: 2142_CR9 publication-title: Trends Endocrinol Metab doi: 10.1016/j.tem.2009.04.005 – volume: 1 start-page: 280 year: 2009 ident: 2142_CR3 publication-title: EMBO Mol Med doi: 10.1002/emmm.200900037 – volume: 85 start-page: 1776 year: 2000 ident: 2142_CR6 publication-title: J Clin Endocrinol Metab doi: 10.1210/jc.85.5.1776 – volume: 34 start-page: 2540 year: 1981 ident: 2142_CR5 publication-title: Am J Clin Nutr doi: 10.1093/ajcn/34.11.2540 – volume: 304 start-page: 1325 year: 2004 ident: 2142_CR1 publication-title: Science doi: 10.1126/science.1096706 – reference: 17867724 - Drug Saf. 2007;30(10):861-81 – reference: 17561981 - Clin Endocrinol (Oxf). 2007 Oct;67(4):479-84 – reference: 17970778 - Clin Endocrinol (Oxf). 2008 Apr;68(4):580-8 – reference: 19748282 - Trends Endocrinol Metab. 2009 Oct;20(8):380-7 – reference: 10843151 - J Clin Endocrinol Metab. 2000 May;85(5):1776-82 – reference: 17379009 - Metabolism. 2007 Apr;56(4):508-16 – reference: 17299075 - J Clin Endocrinol Metab. 2007 May;92(5):1606-12 – reference: 15166380 - Science. 2004 May 28;304(5675):1325-8 – reference: 6975564 - Am J Clin Nutr. 1981 Nov;34(11):2540-5 – reference: 20049731 - EMBO Mol Med. 2009 Aug;1(5):280-7 |
| SSID | ssj0003546 |
| Score | 2.2064931 |
| Snippet | Aims/hypothesis
Familial partial lipodystrophy (FPLD) is a rare metabolic disorder with clinical features that may not be readily recognised. As FPLD patients... Familial partial lipodystrophy (FPLD) is a rare metabolic disorder with clinical features that may not be readily recognised. As FPLD patients require a... Aims/hypothesis: Familial partial lipodystrophy (FPLD) is a rare metabolic disorder with clinical features that may not be readily recognised. As FPLD patients... |
| SourceID | pubmedcentral proquest pubmed pascalfrancis crossref springer |
| SourceType | Open Access Repository Aggregation Database Index Database Enrichment Source Publisher |
| StartPage | 1639 |
| SubjectTerms | Adult Aged Biological and medical sciences Body mass Dermatology Diabetes Diabetes Mellitus, Type 2 - drug therapy Diabetes Mellitus, Type 2 - genetics Diabetes. Impaired glucose tolerance DNA Endocrine pancreas. Apud cells (diseases) Endocrinopathies Etiopathogenesis. Screening. Investigations. Target tissue resistance Evaluation Female Hormones Human Physiology Humans Insulin - administration & dosage Insulin - therapeutic use Insulin Resistance - genetics Insulin Resistance - physiology Internal Medicine Lipodystrophy, Familial Partial - diagnosis Lipodystrophy, Familial Partial - genetics Male Measurement Medical sciences Medicine Medicine & Public Health Metabolic Diseases Middle Aged Mutation Objectives Patients PPAR gamma - genetics Short Communication Skin involvement in other diseases. Miscellaneous. General aspects |
| Title | Characterisation of non-obese diabetic patients with marked insulin resistance identifies a novel familial partial lipodystrophy-associated PPARγ mutation (Y151C) |
| URI | https://link.springer.com/article/10.1007/s00125-011-2142-4 https://www.ncbi.nlm.nih.gov/pubmed/21479595 https://www.proquest.com/docview/1011201020 https://www.proquest.com/docview/871378734 https://pubmed.ncbi.nlm.nih.gov/PMC3110271 |
| Volume | 54 |
| WOSCitedRecordID | wos000291392000008&url=https%3A%2F%2Fcvtisr.summon.serialssolutions.com%2F%23%21%2Fsearch%3Fho%3Df%26include.ft.matches%3Dt%26l%3Dnull%26q%3D |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| journalDatabaseRights | – providerCode: PRVPQU databaseName: Health & Medical Collection customDbUrl: eissn: 1432-0428 dateEnd: 20171231 omitProxy: false ssIdentifier: ssj0003546 issn: 0012-186X databaseCode: 7X7 dateStart: 19990101 isFulltext: true titleUrlDefault: https://search.proquest.com/healthcomplete providerName: ProQuest – providerCode: PRVPQU databaseName: ProQuest Central customDbUrl: eissn: 1432-0428 dateEnd: 20171231 omitProxy: false ssIdentifier: ssj0003546 issn: 0012-186X databaseCode: BENPR dateStart: 19990101 isFulltext: true titleUrlDefault: https://www.proquest.com/central providerName: ProQuest – providerCode: PRVPQU databaseName: Public Health Database customDbUrl: eissn: 1432-0428 dateEnd: 20171231 omitProxy: false ssIdentifier: ssj0003546 issn: 0012-186X databaseCode: 8C1 dateStart: 19990101 isFulltext: true titleUrlDefault: https://search.proquest.com/publichealth providerName: ProQuest – providerCode: PRVAVX databaseName: Springer Nature Link Journals customDbUrl: eissn: 1432-0428 dateEnd: 99991231 omitProxy: false ssIdentifier: ssj0003546 issn: 0012-186X databaseCode: RSV dateStart: 19970101 isFulltext: true titleUrlDefault: https://link.springer.com/search?facet-content-type=%22Journal%22 providerName: Springer Nature |
| link | http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1La9wwEB6apJRCSV9J4z4WFXroA4Ft2Zb2mCwJvXRZtg-2J6OVZWrY2MtqN5Df05_Q_9Hf1JEsO2ybFNqLffB4bEmjmU-a0QzAq1QXaMazjPJSpTRRGaMyHoY01FoggI3KsAxdsQk-HovZbDjx57hNF-3euSSdpu4Pu1nLbAPNImrThNFkB_bQ2gk7G6cfv_Tql_nTOUhNI5HNOlfmdSy2jNG9pTTYL2Vb0OI6xPln4ORv3lNnlM7u_1dzHsC-x6DkuBWah3BL14_gzgfvZX8M30dXWZzdwJGmJHVT02aujSbtdm2liM_JaojdzCXnNtCnID64neAy3kJTlClSFW1IkjZEIp8LvSBuXwVFH3ngX-B9US2b4tKsVw2OO5VeaJDfZHI8_fmDnG_amAHy-iuih9GbA_h8dvpp9J76Yg5UpWGyRllA6BhzUWpZIkqZK4mtZkyhbUyUKDhDRSvRnCpWZHjTQkluj7uXXCKqlCk7hF1sqT4CouQwKYesYCrNElQ683iueagUoquI4VI_gLAb1Vz5TOe24MYi73M0u87PsfNz2_l5EsDb_pVlm-bjb8SDLVHp30C4wxlqwABedrKT42y1LhhZ62ZjbEBdZOMP4jAAcgMNLmEtE4bfedKK29UHosTWhk8D4FuC2BPYZOHbT-rqm0sazhDnxTwK4F0njrnXVubmlj79J-pncLfdcbfBzM9hd73a6BdwW12sK7MawA6fcXcVeBWjaAB7J6fjyXTg5u8vxbY95w |
| linkProvider | Springer Nature |
| linkToHtml | http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV3NbtQwEB5BQYBU8Q8NP8VIHCjIUhI7cfZYraiKaFerUtByiryOLSJtk9V6txLP00fgPXimjhMn1UKLBKcc4kxiezLz2fN5BuBNogt042lKhVEJ5SplVMaDkIZaZwhgIxOasCk2IUajbDIZjP05btux3buQZGOp-8NuzjM7ollEXZowyq_DDY4Oy_H4jj5_7c0v86dzsDWNsnTShTIvE7HmjDbn0uK4mLagxWWI80_i5G_R08Yp7d37r-7ch7seg5LdVmkewDVdPYRbhz7K_gjOhhdZnJuJI7UhVV3ReqqtJu12bamIz8lqidvMJSeO6FMQT24nuIx30BR1ipRFS0nSlkiUc6pnpNlXQdVHGfgVeJ2V87r4YZeLGuedSq80KG883j369ZOcrFrOAHn7DdHDcOcxfNn7cDzcp76YA1VJyJeoCwgdY5EZLQ2ilKmS2GvGFPpGrrJCMDS0Et2pYkWKF50pKdxxdyMkokqZsCewgT3VW0CUHHAzYAVTScrR6EzjqRahUoiuIoZL_QDCblZz5TOdu4Ibs7zP0dwMfo6Dn7vBz3kA7_pH5m2aj7813l5Tlf4JhDuCoQUM4HWnOzn-rS4EIytdr6wj1EWOfxCHAZAr2uAS1glh-J6nrbpdvCDirjZ8EoBYU8S-gUsWvn6nKr83ScMZ4rxYRAG879Qx99bKXt3TZ__U-hXc3j8-PMgPPo4-PYc77e67Iza_gI3lYqVfwk11uiztYrv5Y88Bckw8lQ |
| linkToPdf | http://cvtisr.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwpV3bjtMwEB3BglZIiPslXBYj8cBF1iaxE6ePq0IFAqqKm7pPkevYIlI3qZp0Jb6HT-A_-CbGsZNVYRcJ8ZSHOJPYOZ459oxnAJ4kukAznqZUGJVQrlJGZTwKaah1hgQ2MqEJu2ITYjrN5vPRzNc5bfpo994l6c402CxNVbu_Ksz-cPDNWmkbdBZRmzKM8vNwgduaQXa5_vHLoIqZP6mDrWmUpfPerXmaiC3DdHklGxwj44pbnMY-_wyi_M2T2hmoydX_7to1uOK5KTlwYLoO53R1A3bfe-_7Tfg-Psnu3P1QUhtS1RWtF7rRxG3jlor4XK0NsZu85MgGABXEB70TXN5byopYI2XhQpV0QyTKOdZL0u234JRAGfgVeF2Wq7r41rTrGvFApQcTypvNDj78_EGONi6WgDw9RFYxfnYLPk9efRq_pr7IA1VJyFvECFLKWGRGS4PsZaEk9poxhTaTq6wQDBWwRDOrWJHiRWdKCnsM3giJbFMm7DbsYE_1XSBKjrgZsYKpJOWojBbxQotQKWRdERM8DiDs_3CufAZ0W4hjmQ-5m7vBz3Hwczv4OQ_g-fDIyqX_-FvjvS3YDE8gDRIMNWMAj3sc5TiLrWtGVrreNDbQLrJxCXEYADmjDS5trRCG77njoHfygojbmvFJAGILlEMDm0R8-05Vfu2SiTPkf7GIAnjRQzP3Wqw5u6f3_qn1I9idvZzk795M396HS25T3sY7P4Cddr3RD-GiOm7LZr3XTd5f_IFFeQ |
| openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Characterisation+of+non-obese+diabetic+patients+with+marked+insulin+resistance+identifies+a+novel+familial+partial+lipodystrophy-associated+PPAR%CE%B3+mutation+%28Y151C%29&rft.jtitle=Diabetologia&rft.au=Visser%2C+M.+E.&rft.au=Kropman%2C+E.&rft.au=Kranendonk%2C+M.+E.&rft.au=Koppen%2C+A.&rft.date=2011-07-01&rft.pub=Springer-Verlag&rft.issn=0012-186X&rft.eissn=1432-0428&rft.volume=54&rft.issue=7&rft.spage=1639&rft.epage=1644&rft_id=info:doi/10.1007%2Fs00125-011-2142-4&rft_id=info%3Apmid%2F21479595&rft.externalDocID=PMC3110271 |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0012-186X&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0012-186X&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0012-186X&client=summon |