430 related articles for article (PubMed ID: 20097706)
21. 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; 52(1):14-6. PubMed ID: 19041432
[TBL] [Abstract][Full Text] [Related]
22. Pathology of congenital generalized lipodystrophy in Agpat2-/- mice.
Vogel P; Read R; Hansen G; Wingert J; Dacosta CM; Buhring LM; Shadoan M
Vet Pathol; 2011 May; 48(3):642-54. PubMed ID: 21051554
[TBL] [Abstract][Full Text] [Related]
23. Seipin Deficiency as a Model of Severe Adipocyte Dysfunction: Lessons from Rodent Models and Teaching for Human Disease.
Magré J; Prieur X
Int J Mol Sci; 2022 Jan; 23(2):. PubMed ID: 35054926
[TBL] [Abstract][Full Text] [Related]
24. Genotype-phenotype correlations of Berardinelli-Seip congenital lipodystrophy and novel candidate genes prediction.
Ren M; Shi J; Jia J; Guo Y; Ni X; Shi T
Orphanet J Rare Dis; 2020 Apr; 15(1):108. PubMed ID: 32349771
[TBL] [Abstract][Full Text] [Related]
25. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.
Magré J; Delépine M; Khallouf E; Gedde-Dahl T; Van Maldergem L; Sobel E; Papp J; Meier M; Mégarbané A; Bachy A; Verloes A; d'Abronzo FH; Seemanova E; Assan R; Baudic N; Bourut C; Czernichow P; Huet F; Grigorescu F; de Kerdanet M; Lacombe D; Labrune P; Lanza M; Loret H; Matsuda F; Navarro J; Nivelon-Chevalier A; Polak M; Robert JJ; Tric P; Tubiana-Rufi N; Vigouroux C; Weissenbach J; Savasta S; Maassen JA; Trygstad O; Bogalho P; Freitas P; Medina JL; Bonnicci F; Joffe BI; Loyson G; Panz VR; Raal FJ; O'Rahilly S; Stephenson T; Kahn CR; Lathrop M; Capeau J;
Nat Genet; 2001 Aug; 28(4):365-70. PubMed ID: 11479539
[TBL] [Abstract][Full Text] [Related]
26. Overexpression of a short human seipin/BSCL2 isoform in mouse adipose tissue results in mild lipodystrophy.
Cui X; Wang Y; Meng L; Fei W; Deng J; Xu G; Peng X; Ju S; Zhang L; Liu G; Zhao L; Yang H
Am J Physiol Endocrinol Metab; 2012 Mar; 302(6):E705-13. PubMed ID: 22234369
[TBL] [Abstract][Full Text] [Related]
27. Heterozygous deletion of Seipin in islet beta cells of male mice has an impact on insulin synthesis and secretion through reduced PPARγ expression.
Xiong J; Sun P; Wang Y; Hua X; Song W; Wang Y; Wu J; Yu W; Liu G; Chen L
Diabetologia; 2020 Feb; 63(2):338-350. PubMed ID: 31776610
[TBL] [Abstract][Full Text] [Related]
28. SEIPIN Regulates Lipid Droplet Expansion and Adipocyte Development by Modulating the Activity of Glycerol-3-phosphate Acyltransferase.
Pagac M; Cooper DE; Qi Y; Lukmantara IE; Mak HY; Wu Z; Tian Y; Liu Z; Lei M; Du X; Ferguson C; Kotevski D; Sadowski P; Chen W; Boroda S; Harris TE; Liu G; Parton RG; Huang X; Coleman RA; Yang H
Cell Rep; 2016 Nov; 17(6):1546-1559. PubMed ID: 27806294
[TBL] [Abstract][Full Text] [Related]
29. Lipodystrophies: disorders of adipose tissue biology.
Garg A; Agarwal AK
Biochim Biophys Acta; 2009 Jun; 1791(6):507-13. PubMed ID: 19162222
[TBL] [Abstract][Full Text] [Related]
30. Genetic basis of lipodystrophies and management of metabolic complications.
Agarwal AK; Garg A
Annu Rev Med; 2006; 57():297-311. PubMed ID: 16409151
[TBL] [Abstract][Full Text] [Related]
31. Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases.
Vatier C; Vantyghem MC; Storey C; Jéru I; Christin-Maitre S; Fève B; Lascols O; Beltrand J; Carel JC; Vigouroux C; Bismuth E
Curr Med Res Opin; 2019 Mar; 35(3):543-552. PubMed ID: 30296183
[TBL] [Abstract][Full Text] [Related]
32. 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; 146A(18):2318-26. PubMed ID: 18698612
[TBL] [Abstract][Full Text] [Related]
33. The worldwide mutational landscape of Berardinelli-Seip congenital lipodystrophy.
Craveiro Sarmento AS; Ferreira LC; Lima JG; de Azevedo Medeiros LB; Barbosa Cunha PT; Agnez-Lima LF; Galvão Ururahy MA; de Melo Campos JTA
Mutat Res Rev Mutat Res; 2019; 781():30-52. PubMed ID: 31416577
[TBL] [Abstract][Full Text] [Related]
34. Founder effect of the 669insA mutation in BSCL2 gene causing Berardinelli-Seip congenital lipodystrophy in a cluster from Brazil.
Gomes KB; Pardini VC; Ferreira AC; Fonseca CG; Fernandes AP
Ann Hum Genet; 2007 Nov; 71(Pt 6):729-34. PubMed ID: 17535271
[TBL] [Abstract][Full Text] [Related]
35. Lack of testicular seipin causes teratozoospermia syndrome in men.
Jiang M; Gao M; Wu C; He H; Guo X; Zhou Z; Yang H; Xiao X; Liu G; Sha J
Proc Natl Acad Sci U S A; 2014 May; 111(19):7054-9. PubMed ID: 24778225
[TBL] [Abstract][Full Text] [Related]
36. Bone Density in Patients With Berardinelli-Seip Congenital Lipodystrophy Is Higher in Trabecular Sites and in Type 2 Patients.
Lima JG; Nobrega LHC; Lima NN; Dos Santos MCF; Baracho MFP; Bandeira F; Capistrano L; Freire Neto FP; Jeronimo SMB
J Clin Densitom; 2018; 21(1):61-67. PubMed ID: 27894728
[TBL] [Abstract][Full Text] [Related]
37. Serum adiponectin and leptin levels in patients with lipodystrophies.
Haque WA; Shimomura I; Matsuzawa Y; Garg A
J Clin Endocrinol Metab; 2002 May; 87(5):2395. PubMed ID: 11994394
[TBL] [Abstract][Full Text] [Related]
38. Hepatic BSCL2 (Seipin) Deficiency Disrupts Lipid Droplet Homeostasis and Increases Lipid Metabolism via SCD1 Activity.
Lounis MA; Lalonde S; Rial SA; Bergeron KF; Ralston JC; Mutch DM; Mounier C
Lipids; 2017 Feb; 52(2):129-150. PubMed ID: 27838812
[TBL] [Abstract][Full Text] [Related]
39. A Patient with Berardinelli-Seip Syndrome, Novel
Oswiecimska J; Dawidziuk M; Gambin T; Ziora K; Marek M; Rzonca S; Guilbride DL; Jhangiani SN; Obuchowicz A; Sikora A; Lupski JR; Wiszniewski W; Gawlinski P
J Clin Res Pediatr Endocrinol; 2019 Sep; 11(3):319-326. PubMed ID: 30563316
[TBL] [Abstract][Full Text] [Related]
40.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
