PMC Articles for MedGen (Select 1675945) - PMC

Result Filters

Links from MedGen

Items: 1 to 20 of 21

<< First< Prev

Page of 2

Select item 43617441.

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 59465152.

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

Abstract Article PDF–3.4M

Select item 63824553.

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 1691714.

Lamin A/C truncation in dilated cardiomyopathy with conduction disease

Heather M MacLeod, Mary R Culley, Jill M Huber, Elizabeth M McNally

BMC Med Genet. 2003; 4: 4. Published online 2003 Jul 10. doi: 10.1186/1471-2350-4-4

PMCID:: PMC169171

Abstract Article PDF–803K

Select item 3441775.

Expression of a Mutant Lamin A That Causes Emery-Dreifuss Muscular Dystrophy Inhibits In Vitro Differentiation of C2C12 Myoblasts

Catherine Favreau, Dominique Higuet, Jean-Claude Courvalin, Brigitte Buendia

Mol Cell Biol. 2004 Feb; 24(4): 1481–1492. doi: 10.1128/MCB.24.4.1481-1492.2004

PMCID:: PMC344177

Abstract Article PDF–732K

Select item 12881866.

Mutational and Haplotype Analyses of Families with Familial Partial Lipodystrophy (Dunnigan Variety) Reveal Recurrent Missense Mutations in the Globular C-Terminal Domain of Lamin A/C

Rebecca A. Speckman, Abhimanyu Garg, Fenghe Du, Lynda Bennett, Rose Veile, Elif Arioglu, Simeon I. Taylor, Michael Lovett, Anne M. Bowcock

Am J Hum Genet. 2000 Apr; 66(4): 1192–1198. Published online 2000 Mar 15. doi: 10.1086/302836

PMCID:: PMC1288186

Abstract Article PDF–378K

Select item 28539967.

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

Correction in:: J Clin Endocrinol Metab. May 1, 2010; 95(5): 2521.

PMCID:: PMC2853996

Abstract Article

Select item 32157988.

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 39056179.

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 573624510.

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 612689011.

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 1118088512.

Comprehensive analysis of morbidity and mortality patterns in familial partial lipodystrophy patients: insights from a population study

Natália Rossin Guidorizzi, Cynthia M. Valerio, Luiz F. Viola, Victor Rezende Veras, Virgínia Oliveira Fernandes, Grayce Ellen da Cruz Paiva Lima, Amanda Caboclo Flor, Jessica Silveira Araújo, Raquel Beatriz Gonçalves Muniz, Rodrigo Oliveira Moreira, Francisco José Albuquerque De Paula, Lenita Zajdenverg, Joana R. Dantas, Amélio F. Godoy-Matos, Renan Magalhães Montenegro Júnior, Maria Cristina Foss-Freitas

Front Endocrinol (Lausanne) 2024; 15: 1359211. Published online 2024 Jun 3. doi: 10.3389/fendo.2024.1359211

PMCID:: PMC11180885

Abstract Article PDF–926K

Select item 652606113.

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 656379814.

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 658992415.

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 691679516.

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 767325417.

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 900353818.

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 996631719.

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 1084740720.

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

<< First< Prev

Page of 2

Next >Last >>

Supplemental Content

Filter your results:

Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

PMC Articles for MedGen (Select 1675945) (21)
PMC
txid411153[Organism] (152)
Nucleotide
maturase K (chloroplast) [Dendrobium moniliforme]
maturase K (chloroplast) [Dendrobium moniliforme]
gi|283046471|dbj|BAI63100.1|

Protein
Dendrobium moniliforme voucher Jin X.H. 092 18S ribosomal RNA gene, partial sequ...
Dendrobium moniliforme voucher Jin X.H. 092 18S ribosomal RNA gene, partial sequence; internal transcribed spacer 1 and 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequence
gi|734449602|gb|KJ210483.1|

Nucleotide
Dendrobium moniliforme isolate DM_83 ribulose-1,5-bisphosphate carboxylase/oxyge...
Dendrobium moniliforme isolate DM_83 ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit (rbcL) gene, partial cds; chloroplast
gi|635174137|gb|KF296684.1|

Nucleotide

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 21

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity