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Select item 63560951.

Metreleptin treatment for congenital generalized lipodystrophy type 4 (CGL4): a case report

Shinji Takeyari, Satoshi Takakuwa, Kei Miyata, Kenichi Yamamoto, Hirofumi Nakayama, Yasuhisa Ohata, Makoto Fujiwara, Taichi Kitaoka, Takuo Kubota, Noriyuki Namba, Norio Sakai, Keiichi Ozono

Clin Pediatr Endocrinol. 2019; 28(1): 1–7. Published online 2019 Jan 31. doi: 10.1297/cpe.28.1

PMCID:: PMC6356095

Abstract Article PDF–822K

Select item 63645062.

Postmortem Findings in a Young Man With Congenital Generalized Lipodystrophy, Type 4 Due to CAVIN1 Mutations

Nivedita Patni, Frank Vuitch, Abhimanyu Garg

J Clin Endocrinol Metab. 2019 Mar; 104(3): 957–960. Published online 2018 Nov 21. doi: 10.1210/jc.2018-01331

PMCID:: PMC6364506

Abstract Article

Select item 103690543.

A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature

Valentina Mancioppi, Tommaso Daffara, Martina Romanisio, Giovanni Ceccarini, Caterina Pelosini, Ferruccio Santini, Simonetta Bellone, Simona Mellone, Alessio Baricich, Ivana Rabbone, Gianluca Aimaretti, Baris Akinci, Mara Giordano, Flavia Prodam

Front Endocrinol (Lausanne) 2023; 14: 1212729. Published online 2023 Jul 12. doi: 10.3389/fendo.2023.1212729

PMCID:: PMC10369054

Abstract Article PDF–1.3M

Select item 72273364.

Unusual clinical features associated with congenital generalized lipodystrophy type 4 in a patient with a novel E211X CAVIN1 gene variant

Ekaterina Sorkina, Polina Makarova, Liubov Bolotskaya, Irina Ulyanova, Tatyana Chernova, Anatoly Tiulpakov

Clin Diabetes Endocrinol. 2020; 6: 7. Published online 2020 May 14. doi: 10.1186/s40842-020-00095-3

PMCID:: PMC7227336

Abstract Article PDF–1.2M

Select item 28373865.

Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form of Congenital Generalized Lipodystrophy with Muscle Rippling (CGL4) Due to PTRF-CAVIN Mutations

Anna Rajab, Volker Straub, Liza J. McCann, Dominik Seelow, Raymonda Varon, Rita Barresi, Anne Schulze, Barbara Lucke, Susanne Lützkendorf, Mohsen Karbasiyan, Sebastian Bachmann, Simone Spuler, Markus Schuelke

PLoS Genet. 2010 Mar; 6(3): e1000874. Published online 2010 Mar 12. doi: 10.1371/journal.pgen.1000874

PMCID:: PMC2837386

Abstract Article PDF–5.3M

Select item 76058926.

Spectrum of clinical manifestations in two young Turkish patients with congenital generalized lipodystrophy type 4

Gulcin Akinci, Haluk Topaloglu, Baris Akinci, Huseyin Onay, Cem Karadeniz, Yakup Ergul, Tevfik Demir, Emin Evren Ozcan, Canan Altay, Tahir Atik, Abhimanyu Garg

Eur J Med Genet. Author manuscript; available in PMC 2020 Nov 2.

Published in final edited form as: Eur J Med Genet. 2016 Jun; 59(6-7): 320–324. Published online 2016 May 7. doi: 10.1016/j.ejmg.2016.05.001

PMCID:: PMC7605892

Abstract Article PDF–527K

Select item 29300697.

Congenital Generalized Lipodystrophy, Type 4 (CGL4) Associated with Myopathy due to Novel PTRF Mutations

Savitha Shastry, Mauricio R. Delgado, Eray Dirik, Mehmet Turkmen, Anil K. Agarwal, Abhimanyu Garg

Am J Med Genet A. Author manuscript; available in PMC 2011 Sep 1.

Published in final edited form as: Am J Med Genet A. 2010 Sep; 152A(9): 2245–2253. doi: 10.1002/ajmg.a.33578

PMCID:: PMC2930069

Abstract Article PDF–945K

Select item 38468528.

Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy

Anna Ardissone, Cinzia Bragato, Lorella Caffi, Flavia Blasevich, Sabrina Maestrini, Maria Luisa Bianchi, Lucia Morandi, Isabella Moroni, Marina Mora

BMC Med Genet. 2013; 14: 89. Published online 2013 Sep 11. doi: 10.1186/1471-2350-14-89

PMCID:: PMC3846852

Abstract Article PDF–1.4M

Select item 50176239.

PTRF/Cavin-1 Deficiency Causes Cardiac Dysfunction Accompanied by Cardiomyocyte Hypertrophy and Cardiac Fibrosis

Takuya Taniguchi, Naoki Maruyama, Takehiro Ogata, Takeru Kasahara, Naohiko Nakanishi, Kotaro Miyagawa, Daisuke Naito, Tetsuro Hamaoka, Masahiro Nishi, Satoaki Matoba, Tomomi Ueyama

PLoS One. 2016; 11(9): e0162513. Published online 2016 Sep 9. doi: 10.1371/journal.pone.0162513

PMCID:: PMC5017623

Abstract Article PDF–3.0M

Select item 795892310.

Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey

Baris Akinci, Huseyin Onay, Tevfik Demir, Samim Ozen, Hulya Kayserili, Gulcin Akinci, Banu Nur, Beyhan Tuysuz, Mehmet Nuri Ozbek, Adem Gungor, Ilgin Yildirim Simsir, Canan Altay, Leyla Demir, Enver Simsek, Murat Atmaca, Haluk Topaloglu, Habib Bilen, Hulusi Atmaca, Tahir Atik, Umit Cavdar, Umut Altunoglu, Ayca Aslanger, Ercan Mihci, Mustafa Secil, Fusun Saygili, Abdurrahman Comlekci, Abhimanyu Garg

J Clin Endocrinol Metab. 2016 Jul 1; 101(7): 2759–2767. Published online 2016 Jul 1. doi: 10.1210/jc.2016-1005

PMCID:: PMC7958923

Abstract Article

Select item 5345411.

Identification of the HeLa tumor-associated antigen, p75/150, as intestinal alkaline phosphatase and evidence for its transcriptional regulation.

K M Latham, E J Stanbridge

Proc Natl Acad Sci U S A. 1990 Feb; 87(4): 1263–1267. doi: 10.1073/pnas.87.4.1263

PMCID:: PMC53454

Summary Page Browse PDF–1.2M

Select item 753920712.

Cavin1 Deficiency Causes Disorder of Hepatic Glycogen Metabolism and Neonatal Death by Impacting Fenestrations in Liver Sinusoidal Endothelial Cells

Zhuang Wei, Jigang Lei, Feng Shen, Yuxiang Dai, Yan Sun, Yilian Liu, Yan Dai, Zhijie Jian, Shilong Wang, Zhengjun Chen, Kan Liao, Shangyu Hong

Adv Sci (Weinh) 2020 Oct; 7(19): 2000963. Published online 2020 Aug 21. doi: 10.1002/advs.202000963

PMCID:: PMC7539207

Abstract Article PDF–6.0M

Select item 902076913.

Case Report: Precision COVID-19 Immunization Strategy to Overcome Individual Fragility: A Case of Generalized Lipodystrophy Type 4

Salvatore Zaffina, Eva Piano Mortari, Reparata Rosa Di Prinzio, Marco Cappa, Antonio Novelli, Emanuele Agolini, Massimiliano Raponi, Bruno Dallapiccola, Franco Locatelli, Carlo Federico Perno, Rita Carsetti

Front Immunol. 2022; 13: 869042. Published online 2022 Apr 6. doi: 10.3389/fimmu.2022.869042

PMCID:: PMC9020769

Abstract Article PDF–1003K

Select item 566954214.

Determining residual adipose tissue characteristics with MRI in patients with various subtypes of lipodystrophy

Canan Altay, Mustafa Seçil, Tevfik Demir, Tahir Atik, Gülçin Akıncı, Nilüfer Özdemir Kutbay, Ela Keskin Temeloğlu, Ilgın Yıldırım Şimşir, Seçil Özışık, Leyla Demir, Erdal Eren, Emine Burçin Tuna, Hasibe Aytaç, Hüseyin Onay, Barış Akıncı

Diagn Interv Radiol. 2017 Nov; 23(6): 428–434. Published online 2017 Oct 18. doi: 10.5152/dir.2017.17019

PMCID:: PMC5669542

Abstract Article PDF–1.6M

Select item 350990315.

A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction

Ellen H. Jeninga, Monique de Vroede, Nicole Hamers, Johannes M. P. J. Breur, Nanda M. Verhoeven-Duif, Ruud Berger, Eric Kalkhoven

JIMD Rep. 2012; 4: 47–54. Published online 2011 Nov 4. doi: 10.1007/8904_2011_86

PMCID:: PMC3509903

Abstract Article PDF–431K

Select item 453047316.

Region-specific variation in the properties of skeletal adipocytes reveals regulated and constitutive marrow adipose tissues

Erica L. Scheller, Casey R. Doucette, Brian S. Learman, William P. Cawthorn, Shaima Khandaker, Benjamin Schell, Brent Wu, Shi-Ying Ding, Miriam A. Bredella, Pouneh K. Fazeli, Basma Khoury, Karl J. Jepsen, Paul F. Pilch, Anne Klibanski, Clifford J. Rosen, Ormond A. MacDougald

Nat Commun. 2015; 6: 7808. Published online 2015 Aug 6. doi: 10.1038/ncomms8808

Correction in:: Nat Commun. 2016; 7: 13775.

PMCID:: PMC4530473

Abstract Article PDF–3.3M

Select item 293605917.

An Autosomal Recessive Syndrome of Joint Contractures, Muscular Atrophy, Microcytic Anemia, and Panniculitis-Associated Lipodystrophy

Abhimanyu Garg, Maria Dolores Hernandez, Ana Berta Sousa, Lalitha Subramanyam, Laura Martínez de Villarreal, Heloísa G. dos Santos, Oralia Barboza

J Clin Endocrinol Metab. 2010 Sep; 95(9): E58–E63. Published online 2010 Jun 9. doi: 10.1210/jc.2010-0488

PMCID:: PMC2936059

Abstract Article

Select item 311004418.

Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation

Rabah Ben Yaou, Claire Navarro, Susana Quijano-Roy, Anne T Bertrand, Catherine Massart, Annachiara De Sandre-Giovannoli, Juan Cadiñanos, Kamel Mamchaoui, Gillian Butler-Browne, Brigitte Estournet, Pascale Richard, Annie Barois, Nicolas Lévy, Gisèle Bonne

Eur J Hum Genet. 2011 Jun; 19(6): 647–654. Published online 2011 Jan 26. doi: 10.1038/ejhg.2010.256

PMCID:: PMC3110044

Abstract Article PDF–988K

Select item 275467819.

The Human Lipodystrophy Gene Product Berardinelli-Seip Congenital Lipodystrophy 2/Seipin Plays a Key Role in Adipocyte Differentiation

Weiqin Chen, Vijay K. Yechoor, Benny Hung-Junn Chang, Ming V. Li, Keith L. March, Lawrence Chan

Endocrinology. 2009 Oct; 150(10): 4552–4561. Published online 2009 Jul 2. doi: 10.1210/en.2009-0236

PMCID:: PMC2754678

Abstract Article

Select item 271611420.

Novel Subtype of Congenital Generalized Lipodystrophy Associated With Muscular Weakness and Cervical Spine Instability

Vinaya Simha, Anil K. Agarwal, Patricia A. Aronin, Susan T. Iannaccone, Abhimanyu Garg

Am J Med Genet A. Author manuscript; available in PMC 2009 Jul 27.

Published in final edited form as: Am J Med Genet A. 2008 Sep 15; 146A(18): 2318–2326. doi: 10.1002/ajmg.a.32457

PMCID:: PMC2716114

Abstract Article PDF–1.1M

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