PMC Articles for MedGen (Select 1675945) - PMC

Select item 59465151.

The renal manifestations of type 4 familial partial lipodystrophy: a case report and review of literature

Ru-Xuan Chen, Lei Zhang, Wei Ye, Yu-Bing Wen, Nuo Si, Hang Li, Ming-Xi Li, Xue-Mei Li, Ke Zheng

BMC Nephrol. 2018; 19: 111. Published online 2018 May 10. doi: 10.1186/s12882-018-0913-6

PMCID:: PMC5946515

Select item 43617442.

Clinical and molecular characterization of a novel PLIN1 frameshift mutation identified in patients with familial partial lipodystrophy

K Kozusko, VHM Tsang, W Bottomley, YH Cho, S Gandotra, ML Mimmack, K Lim, I Isaac, Satish Patel, V Saudek, S O’Rahilly, S Srinivasan, JR Greenfield, I Barroso, LV Campbell, DB Savage

Diabetes. Author manuscript; available in PMC 2015 Mar 17.

Published in final edited form as: Diabetes. 2015 Jan; 64(1): 299–310. Published online 2014 Aug 11. doi: 10.2337/db14-0104

PMCID:: PMC4361744

Abstract Article PDF–1.6M

Select item 109739023.

Efficacy and Safety of Glucagon-Like Peptide 1 Agonists in a Retrospective Study of Patients With Familial Partial Lipodystrophy

Maria C. Foss-Freitas, Salman Imam, Adam Neidert, Anabela Dill Gomes, David T. Broome, Elif A. Oral

Diabetes Care. 2024 Apr; 47(4): 653–659. Published online 2024 Feb 1. doi: 10.2337/dc23-1614

PMCID:: PMC10973902

Abstract Article PDF–43M

Select item 108474074.

Clinical and imaging features of women with polygenic partial lipodystrophy: a case series

Wann Jia Loh, Jadegoud Yaligar, Amanda J. Hooper, Suresh Anand Sadananthan, Yeshe Kway, Su Chi Lim, Gerald.F. Watts, Sambasivam Sendhil Velan, Melvin Khee Shing Leow, Joan Khoo

Nutr Diabetes. 2024; 14: 3. Published online 2024 Feb 6. doi: 10.1038/s41387-024-00260-y

PMCID:: PMC10847407

Abstract Article PDF–1.4M

Select item 99663175.

Inguinal Fat Compensates Whole Body Metabolic Functionality in Partially Lipodystrophic Mice with Reduced PPARγ Expression

Cherng-Shyang Chang, Shang-Shiuan Yu, Li-Chun Ho, Shu-Hsin Chao, Ting-Yu Chou, Ai-Ning Shao, Ling-Zhen Kao, Chia-Yu Chang, Yu-Hsin Chen, Ming-Shan Wu, Pei-Jane Tsai, Nobuyo Maeda, Yau-Sheng Tsai

Int J Mol Sci. 2023 Feb; 24(4): 3904. Published online 2023 Feb 15. doi: 10.3390/ijms24043904

PMCID:: PMC9966317

Abstract Article PDF–2.1M

Select item 90035386.

Cardiac phenotype in familial partial lipodystrophy

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

Clin Endocrinol (Oxf) Author manuscript; available in PMC 2022 Jun 1.

Published in final edited form as: Clin Endocrinol (Oxf). 2021 Jun; 94(6): 1043–1053. Published online 2021 Feb 22. doi: 10.1111/cen.14426

PMCID:: PMC9003538

Abstract Article PDF–599K

Select item 76732547.

Lipodystrophies: Genetic and Acquired Body Fat Disorders

Abhimanyu Garg

J Clin Endocrinol Metab. 2011 Nov 1; 96(11): 3313–3325. Published online 2011 Nov 1. doi: 10.1210/jc.2011-1159

PMCID:: PMC7673254

Abstract Article

Select item 69167958.

Diagnostic Challenge in PLIN1-Associated Familial Partial Lipodystrophy

Isabelle Jéru, Marie-Christine Vantyghem, Elise Bismuth, Pascale Cervera, Sara Barraud, Martine Auclair, Camille Vatier, Olivier Lascols, David B Savage, Corinne Vigouroux, PLIN1-Study Group

J Clin Endocrinol Metab. 2019 Dec; 104(12): 6025–6032. Published online 2019 Jun 27. doi: 10.1210/jc.2019-00849

PMCID:: PMC6916795

Abstract Article

Select item 65899249.

P465L‐PPARγ mutation confers partial resistance to the hypolipidaemic action of fibrates

Sergio Rodriguez‐Cuenca, Stefania Carobbio, Gwendolyn Barceló‐Coblijn, Xavier Prieur, Joana Relat, Ramon Amat, Mark Campbell, Ana Rita Dias, Myriam Bahri, Sarah L. Gray, Antonio Vidal‐Puig

Diabetes Obes Metab. 2018 Oct; 20(10): 2339–2350. Published online 2018 Jun 27. doi: 10.1111/dom.13370

PMCID:: PMC6589924

Abstract Article PDF–3.4M

Select item 656379810.

Efficacy of Metreleptin Treatment in Familial Partial Lipodystrophy Due to PPARG vs LMNA Pathogenic Variants

Hilal Sekizkardes, Elaine Cochran, Noemi Malandrino, Abhimanyu Garg, Rebecca J Brown

J Clin Endocrinol Metab. 2019 Aug; 104(8): 3068–3076. Published online 2019 Mar 11. doi: 10.1210/jc.2018-02787

PMCID:: PMC6563798

Abstract Article

Select item 652606111.

Clinical Utility of Genomic Analysis in Adults with Idiopathic Liver Disease

Aaron Hakim, Xuchen Zhang, Angela DeLisle, Elif A. Oral, Daniel Dykas, Kaela Drzewiecki, David N. Assis, Marina Silveira, Jennifer Batisti, Dhanpat Jain, Allen Bale, Pramod K. Mistry, Silvia Vilarinho

J Hepatol. Author manuscript; available in PMC 2020 Jun 1.

Published in final edited form as: J Hepatol. 2019 Jun; 70(6): 1214–1221. Published online 2019 Apr 15. doi: 10.1016/j.jhep.2019.01.036

PMCID:: PMC6526061

Abstract Article PDF–1.8M

Select item 638245512.

Regional Body Fat Changes and Metabolic Complications in Children With Dunnigan Lipodystrophy-Causing LMNA Variants

Nivedita Patni, Xilong Li, Beverley Adams-Huet, Chandna Vasandani, Rita A Gomez-Diaz, Abhimanyu Garg

J Clin Endocrinol Metab. 2019 Apr; 104(4): 1099–1108. Published online 2018 Nov 9. doi: 10.1210/jc.2018-01922

PMCID:: PMC6382455

Abstract Article

Select item 612689013.

PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy

Thomas W Laver, Kashyap A Patel, Kevin Colclough, Jacqueline Curran, Jane Dale, Nikki Davis, David B Savage, Sarah E Flanagan, Sian Ellard, Andrew T Hattersley, Michael N Weedon

J Clin Endocrinol Metab. 2018 Sep; 103(9): 3225–3230. Published online 2018 Jul 17. doi: 10.1210/jc.2017-02662

PMCID:: PMC6126890

Abstract Article

Select item 573624514.

Itm2a silencing rescues lamin A mediated inhibition of 3T3-L1 adipocyte differentiation

Stephanie J. Davies, James Ryan, Patrick B. F. O'Connor, Elaine Kenny, Derek Morris, Pavel V. Baranov, Rosemary O'Connor, Tommie V. McCarthy

Adipocyte. 2017; 6(4): 259–276. Published online 2017 Sep 5. doi: 10.1080/21623945.2017.1362510

PMCID:: PMC5736245

Abstract Article PDF–1.0M

Select item 390561715.

A Clinical Link Between PPARγ and the Renin-Angiotensin System

Curt D. Sigmund

Arterioscler Thromb Vasc Biol. Author manuscript; available in PMC 2014 Apr 1.

Published in final edited form as: Arterioscler Thromb Vasc Biol. 2013 Apr; 33(4): 676–678. doi: 10.1161/ATVBAHA.112.301125

PMCID:: PMC3905617

Abstract Article PDF–190K

Select item 321579816.

Subcellular localization of SREBP1 depends on its interaction with the C-terminal region of wild-type and disease related A-type lamins

Isabelle Duband-Goulet, Stephanie Woerner, Sylvaine Gasparini, Wikayatou Attanda, Emilie Kondé, Carine Tellier-Lebègue, Constantin T. Craescu, Aurélie Gombault, Pascal Roussel, Nathalie Vadrot, Patrick Vicart, Cecilia Östlund, Howard J. Worman, Sophie Zinn-Justin, Brigitte Buendia

Exp Cell Res. Author manuscript; available in PMC 2012 Dec 10.

Published in final edited form as: Exp Cell Res. 2011 Dec 10; 317(20): 2800–2813. Published online 2011 Oct 4. doi: 10.1016/j.yexcr.2011.09.012

PMCID:: PMC3215798

Abstract Article PDF–2.4M

Select item 285399617.

LMNA Mutations, Skeletal Muscle Lipid Metabolism, and Insulin Resistance

Michael Boschmann, Stefan Engeli, Cedric Moro, Angelika Luedtke, Frauke Adams, Kerstin Gorzelniak, Gabriele Rahn, Anja Mähler, Kerstin Dobberstein, Antje Krüger, Saskia Schmidt, Simone Spuler, Friedrich C. Luft, Steven R. Smith, Hartmut H.-J. Schmidt, Jens Jordan

J Clin Endocrinol Metab. 2010 Apr; 95(4): 1634–1643. Published online 2010 Feb 3. doi: 10.1210/jc.2009-1293