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Items: 1 to 20 of 34

1.

Leptin in congenital and HIV-associated lipodystrophy.

Tsoukas MA, Farr OM, Mantzoros CS.

Metabolism. 2015 Jan;64(1):47-59. doi: 10.1016/j.metabol.2014.07.017. Epub 2014 Aug 12. Review.

PMID:
25267014
2.

Towards a mechanistic understanding of lipodystrophy and seipin functions.

Wee K, Yang W, Sugii S, Han W.

Biosci Rep. 2014 Oct 2;34(5). pii: e00141. doi: 10.1042/BSR20140114. Review.

3.

Early infantile cardiomyopathy and liver disease: a multisystemic disorder caused by congenital lipodystrophy.

Debray FG, Baguette C, Colinet S, Van Maldergem L, Verellen-Dumouin C.

Mol Genet Metab. 2013 Jun;109(2):227-9. doi: 10.1016/j.ymgme.2013.04.011. Epub 2013 Apr 23.

PMID:
23647707
4.

A new seipin-associated neurodegenerative syndrome.

Guillén-Navarro E, Sánchez-Iglesias S, Domingo-Jiménez R, Victoria B, Ruiz-Riquelme A, Rábano A, Loidi L, Beiras A, González-Méndez B, Ramos A, López-González V, Ballesta-Martínez MJ, Garrido-Pumar M, Aguiar P, Ruibal A, Requena JR, Araújo-Vilar D.

J Med Genet. 2013 Jun;50(6):401-9. doi: 10.1136/jmedgenet-2013-101525. Epub 2013 Apr 6.

PMID:
23564749
5.

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

Jeninga EH, de Vroede M, Hamers N, Breur JM, Verhoeven-Duif NM, Berger R, Kalkhoven E.

JIMD Rep. 2012;4:47-54. doi: 10.1007/8904_2011_86. Epub 2011 Nov 4.

6.

Seipin regulates excitatory synaptic transmission in cortical neurons.

Wei S, Soh SL, Qiu W, Yang W, Seah CJ, Guo J, Ong WY, Pang ZP, Han W.

J Neurochem. 2013 Feb;124(4):478-89. doi: 10.1111/jnc.12099. Epub 2012 Dec 27.

7.

Seipin: from human disease to molecular mechanism.

Cartwright BR, Goodman JM.

J Lipid Res. 2012 Jun;53(6):1042-55. doi: 10.1194/jlr.R023754. Epub 2012 Apr 2. Review.

8.

Clinical review#: Lipodystrophies: genetic and acquired body fat disorders.

Garg A.

J Clin Endocrinol Metab. 2011 Nov;96(11):3313-25. doi: 10.1210/jc.2011-1159. Epub 2011 Aug 24. Review.

PMID:
21865368
9.

Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.

Graul-Neumann LM, Kienitz T, Robinson PN, Baasanjav S, Karow B, Gillessen-Kaesbach G, Fahsold R, Schmidt H, Hoffmann K, Passarge E.

Am J Med Genet A. 2010 Nov;152A(11):2749-55. doi: 10.1002/ajmg.a.33690.

PMID:
20979188
10.

Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations.

Shastry S, Delgado MR, Dirik E, Turkmen M, Agarwal AK, Garg A.

Am J Med Genet A. 2010 Sep;152A(9):2245-53. doi: 10.1002/ajmg.a.33578.

11.

Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations.

Rajab A, Straub V, McCann LJ, Seelow D, Varon R, Barresi R, Schulze A, Lucke B, Lützkendorf S, Karbasiyan M, Bachmann S, Spuler S, Schuelke M.

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

12.

Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.

Hayashi YK, Matsuda C, Ogawa M, Goto K, Tominaga K, Mitsuhashi S, Park YE, Nonaka I, Hino-Fukuyo N, Haginoya K, Sugano H, Nishino I.

J Clin Invest. 2009 Sep;119(9):2623-33. doi: 10.1172/JCI38660. Epub 2009 Aug 10.

13.

Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome.

Miranda DM, Wajchenberg BL, Calsolari MR, Aguiar MJ, Silva JM, Ribeiro MG, Fonseca C, Amaral D, Boson WL, Resende BA, De Marco L.

Clin Endocrinol (Oxf). 2009 Oct;71(4):512-7. doi: 10.1111/j.1365-2265.2009.03532.x. Epub 2009 Feb 18.

PMID:
19226263
14.

Clinical and molecular aspects of Berardinelli-Seip Congenital Lipodystrophy (BSCL).

Gomes KB, Pardini VC, Fernandes AP.

Clin Chim Acta. 2009 Apr;402(1-2):1-6. doi: 10.1016/j.cca.2008.12.032. Epub 2009 Jan 9. Review.

PMID:
19167372
15.

Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation.

Friguls B, Coroleu W, del Alcazar R, Hilbert P, Van Maldergem L, Pintos-Morell G.

Eur J Med Genet. 2009 Jan-Feb;52(1):14-6. doi: 10.1016/j.ejmg.2008.10.006. Epub 2008 Nov 12.

16.

Seipinopathy: a novel endoplasmic reticulum stress-associated disease.

Ito D, Suzuki N.

Brain. 2009 Jan;132(Pt 1):8-15. doi: 10.1093/brain/awn216. Epub 2008 Sep 12. Review.

PMID:
18790819
17.

Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability.

Simha V, Agarwal AK, Aronin PA, Iannaccone ST, Garg A.

Am J Med Genet A. 2008 Sep 15;146A(18):2318-26. doi: 10.1002/ajmg.a.32457.

18.

The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation.

Payne VA, Grimsey N, Tuthill A, Virtue S, Gray SL, Dalla Nora E, Semple RK, O'Rahilly S, Rochford JJ.

Diabetes. 2008 Aug;57(8):2055-60. doi: 10.2337/db08-0184. Epub 2008 May 5.

19.

Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.

Kim CA, Delépine M, Boutet E, El Mourabit H, Le Lay S, Meier M, Nemani M, Bridel E, Leite CC, Bertola DR, Semple RK, O'Rahilly S, Dugail I, Capeau J, Lathrop M, Magré J.

J Clin Endocrinol Metab. 2008 Apr;93(4):1129-34. doi: 10.1210/jc.2007-1328. Epub 2008 Jan 22.

PMID:
18211975
20.

Metabolic correction induced by leptin replacement treatment in young children with Berardinelli-Seip congenital lipoatrophy.

Beltrand J, Beregszaszi M, Chevenne D, Sebag G, De Kerdanet M, Huet F, Polak M, Tubiana-Rufi N, Lacombe D, De Paoli AM, Levy-Marchal C.

Pediatrics. 2007 Aug;120(2):e291-6.

PMID:
17671040

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