167 related articles for article (PubMed ID: 19762912)
1. 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]
2. Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy.
Boutet E; El Mourabit H; Prot M; Nemani M; Khallouf E; Colard O; Maurice M; Durand-Schneider AM; Chrétien Y; Grès S; Wolf C; Saulnier-Blache JS; Capeau J; Magré J
Biochimie; 2009 Jun; 91(6):796-803. PubMed ID: 19278620
[TBL] [Abstract][Full Text] [Related]
3. Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome.
Ferranti S; Lo Rizzo C; Renieri A; Galluzzi P; Grosso S
Neurol Sci; 2020 Nov; 41(11):3345-3348. PubMed ID: 32440981
[TBL] [Abstract][Full Text] [Related]
4. Towards a mechanistic understanding of lipodystrophy and seipin functions.
Wee K; Yang W; Sugii S; Han W
Biosci Rep; 2014 Oct; 34(5):. PubMed ID: 25195639
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Seipin ablation in mice results in severe generalized lipodystrophy.
Cui X; Wang Y; Tang Y; Liu Y; Zhao L; Deng J; Xu G; Peng X; Ju S; Liu G; Yang H
Hum Mol Genet; 2011 Aug; 20(15):3022-30. PubMed ID: 21551454
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. Higher adiponectin levels in patients with Berardinelli-Seip congenital lipodystrophy due to seipin as compared with 1-acylglycerol-3-phosphate-o-acyltransferase-2 deficiency.
Antuna-Puente B; Boutet E; Vigouroux C; Lascols O; Slama L; Caron-Debarle M; Khallouf E; Lévy-Marchal C; Capeau J; Bastard JP; Magré J
J Clin Endocrinol Metab; 2010 Mar; 95(3):1463-8. PubMed ID: 20097706
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 19226263
[TBL] [Abstract][Full Text] [Related]
11. Seipin S90L mutation in an Italian family with CMT2/dHMN and pyramidal signs.
Luigetti M; Fabrizi GM; Madia F; Ferrarini M; Conte A; Delgrande A; Tonali PA; Sabatelli M
Muscle Nerve; 2010 Sep; 42(3):448-51. PubMed ID: 20806400
[TBL] [Abstract][Full Text] [Related]
12. Role of Seipin in Human Diseases and Experimental Animal Models.
Li Y; Yang X; Peng L; Xia Q; Zhang Y; Huang W; Liu T; Jia D
Biomolecules; 2022 Jun; 12(6):. PubMed ID: 35740965
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. High incidence of BSCL2 intragenic recombinational mutation in Peruvian type 2 Berardinelli-Seip syndrome.
Purizaca-Rosillo N; Mori T; Benites-Cóndor Y; Hisama FM; Martin GM; Oshima J
Am J Med Genet A; 2017 Feb; 173(2):471-478. PubMed ID: 27868354
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Seipin: from human disease to molecular mechanism.
Cartwright BR; Goodman JM
J Lipid Res; 2012 Jun; 53(6):1042-55. PubMed ID: 22474068
[TBL] [Abstract][Full Text] [Related]
17. Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review.
Opri R; Fabrizi GM; Cantalupo G; Ferrarini M; Simonati A; Dalla Bernardina B; Darra F
Seizure; 2016 Nov; 42():1-6. PubMed ID: 27632409
[TBL] [Abstract][Full Text] [Related]
18. Mutations in the seipin and AGPAT2 genes clustering in consanguineous families with Berardinelli-Seip congenital lipodystrophy from two separate geographical regions of Brazil.
Gomes KB; Fernandes AP; Ferreira AC; Pardini H; Garg A; Magré J; Pardini VC
J Clin Endocrinol Metab; 2004 Jan; 89(1):357-61. PubMed ID: 14715872
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene.
Ebihara K; Kusakabe T; Masuzaki H; Kobayashi N; Tanaka T; Chusho H; Miyanaga F; Miyazawa T; Hayashi T; Hosoda K; Ogawa Y; Nakao K
J Clin Endocrinol Metab; 2004 May; 89(5):2360-4. PubMed ID: 15126564
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]