157 related articles for article (PubMed ID: 20854387)
21. AGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome.
Rostami P; Nakhaeimoghadam M; Bijani FM; Sotoudeh A; Rabbani A; Hilbert P; Rezaei N
Ann Endocrinol (Paris); 2013 Feb; 74(1):59-61. PubMed ID: 23337016
[TBL] [Abstract][Full Text] [Related]
22. 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. PubMed ID: 17671040
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. Seipinopathy: a novel endoplasmic reticulum stress-associated disease.
Ito D; Suzuki N
Brain; 2009 Jan; 132(Pt 1):8-15. PubMed ID: 18790819
[TBL] [Abstract][Full Text] [Related]
25. Maladaptative Autophagy Impairs Adipose Function in Congenital Generalized Lipodystrophy due to Cavin-1 Deficiency.
Salle-Teyssières L; Auclair M; Terro F; Nemani M; Elsayed SM; Elsobky E; Lathrop M; Délépine M; Lascols O; Capeau J; Magré J; Vigouroux C
J Clin Endocrinol Metab; 2016 Jul; 101(7):2892-904. PubMed ID: 27144934
[TBL] [Abstract][Full Text] [Related]
26. Dysfunction of lipid metabolism in lipodystrophic Seipin-deficient mice.
Wang M; Gao M; Liao J; Han Y; Wang Y; Liu G
Biochem Biophys Res Commun; 2015 May; 461(2):206-10. PubMed ID: 25866184
[TBL] [Abstract][Full Text] [Related]
27. Congenital generalized lipodystrophy of Berardinelli-Seip type: a rare case.
Khandpur S; Kumar A; Khadgawat R
Indian J Dermatol Venereol Leprol; 2011; 77(3):402. PubMed ID: 21508592
[TBL] [Abstract][Full Text] [Related]
28. 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. PubMed ID: 18211975
[TBL] [Abstract][Full Text] [Related]
29. Congenital generalized lipodystrophy: profile of the disease and gender differences in two siblings.
Raygada M; Rennert O
Clin Genet; 2005 Jan; 67(1):98-101. PubMed ID: 15617555
[TBL] [Abstract][Full Text] [Related]
30. A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome.
Schrauwen I; Szelinger S; Siniard AL; Kurdoglu A; Corneveaux JJ; Malenica I; Richholt R; Van Camp G; De Both M; Swaminathan S; Turk M; Ramsey K; Craig DW; Narayanan V; Huentelman MJ
PLoS One; 2015; 10(7):e0131797. PubMed ID: 26176221
[TBL] [Abstract][Full Text] [Related]
31. Congenital generalized lipodystrophy in a 4 year old Chinese girl.
Dong G; Liang L; Zou C
Indian Pediatr; 2005 Oct; 42(10):1036-8. PubMed ID: 16269843
[TBL] [Abstract][Full Text] [Related]
32. Kinetics of zinc status and zinc deficiency in Berardinelli-Seip syndrome.
Santos MG; Baracho Mde F; Vale SH; Leite LD; Rocha ED; de Brito NJ; França MC; Almeida Md; Chiquetti SC; Marchini JS; Brandão-Neto J
J Trace Elem Med Biol; 2012 Jan; 26(1):7-12. PubMed ID: 22365073
[TBL] [Abstract][Full Text] [Related]
33. GPAT3 deficiency alleviates insulin resistance and hepatic steatosis in a mouse model of severe congenital generalized lipodystrophy.
Gao M; Liu L; Wang X; Mak HY; Liu G; Yang H
Hum Mol Genet; 2020 Feb; 29(3):432-443. PubMed ID: 31873720
[TBL] [Abstract][Full Text] [Related]
34. Molecular mechanism of 1,25-dihydroxyvitamin D3 inhibition of adipogenesis in 3T3-L1 cells.
Kong J; Li YC
Am J Physiol Endocrinol Metab; 2006 May; 290(5):E916-24. PubMed ID: 16368784
[TBL] [Abstract][Full Text] [Related]
35. Complementary mutations in seipin gene in a patient with Berardinelli-Seip congenital lipodystrophy and dystonia: phenotype variability suggests multiple roles of seipin gene.
Wu YR; Hung SI; Chang YC; Chen ST; Lin YL; Chung WH
J Neurol Neurosurg Psychiatry; 2009 Oct; 80(10):1180-1. PubMed ID: 19762912
[No Abstract] [Full Text] [Related]
36. AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.
Agarwal AK; Arioglu E; De Almeida S; Akkoc N; Taylor SI; Bowcock AM; Barnes RI; Garg A
Nat Genet; 2002 May; 31(1):21-3. PubMed ID: 11967537
[TBL] [Abstract][Full Text] [Related]
37. Congenital generalized lipodystrophies--new insights into metabolic dysfunction.
Patni N; Garg A
Nat Rev Endocrinol; 2015 Sep; 11(9):522-34. PubMed ID: 26239609
[TBL] [Abstract][Full Text] [Related]
38. Regulation of Alström syndrome gene expression during adipogenesis and its relationship with fat cell insulin sensitivity.
Romano S; Milan G; Veronese C; Collin GB; Marshall JD; Centobene C; Favaretto F; Dal Pra C; Scarda A; Leandri S; Naggert JK; Maffei P; Vettor R
Int J Mol Med; 2008 Jun; 21(6):731-6. PubMed ID: 18506366
[TBL] [Abstract][Full Text] [Related]
39. A mutation in the c-fos gene associated with congenital generalized lipodystrophy.
Knebel B; Kotzka J; Lehr S; Hartwig S; Avci H; Jacob S; Nitzgen U; Schiller M; März W; Hoffmann MM; Seemanova E; Haas J; Muller-Wieland D
Orphanet J Rare Dis; 2013 Aug; 8():119. PubMed ID: 23919306
[TBL] [Abstract][Full Text] [Related]
40. Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy.
Araújo-Vilar D; Lattanzi G; González-Méndez B; Costa-Freitas AT; Prieto D; Columbaro M; Mattioli E; Victoria B; Martínez-Sánchez N; Ramazanova A; Fraga M; Beiras A; Forteza J; Domínguez-Gerpe L; Calvo C; Lado-Abeal J
J Med Genet; 2009 Jan; 46(1):40-8. PubMed ID: 18805829
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
