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Items: 1 to 20 of 62

1.

Expression of AGPAT2, an enzyme involved in the glycerophospholipid/triacylglycerol biosynthesis pathway, is directly regulated by HIF-1 and promotes survival and etoposide resistance of cancer cells under hypoxia.

Triantafyllou EA, Georgatsou E, Mylonis I, Simos G, Paraskeva E.

Biochim Biophys Acta Mol Cell Biol Lipids. 2018 Sep;1863(9):1142-1152. doi: 10.1016/j.bbalip.2018.06.015. Epub 2018 Jun 15.

PMID:
29908837
2.

Causes of death in patients with Berardinelli-Seip congenital generalized lipodystrophy.

Lima JG, Nobrega LHC, Lima NN, Dos Santos MCF, Silva PHD, Baracho MFP, Lima DN, de Melo Campos JTA, Ferreira LC, Freire Neto FP, Mendes-Aguiar CO, Jeronimo SMB.

PLoS One. 2018 Jun 8;13(6):e0199052. doi: 10.1371/journal.pone.0199052. eCollection 2018.

3.

Nurses' knowledge about Berardinelli-Seip Congenital Lipodystrophy.

Cândido Dantas VK, Soares JDS, de Azevedo Medeiros LB, Craveiro Sarmento AS, Xavier Nobre TT, de Andrade FB, Gomes de Lima J, de Melo Campos JTA.

PLoS One. 2018 Jun 4;13(6):e0197784. doi: 10.1371/journal.pone.0197784. eCollection 2018.

4.

Berardinelli-Seip Congenital Generalised Lipodystrophy.

Cheema HA, Malik HS, Waheed N, Mushtaq I, Fayyaz Z, Anjum MN.

J Coll Physicians Surg Pak. 2018 May;28(5):406-408. doi: 10.29271/jcpsp.2018.05.406.

PMID:
29690976
5.

Experience of people living with the Berardinelli-Seip Syndrome in the Brazilian Northeast.

Damasceno ÉB, Figueiredo JG, França JMB, Veras JCD, Borges REA, Melo LP.

Cien Saude Colet. 2018 Feb;23(2):389-398. doi: 10.1590/1413-81232018232.16802017. Portuguese, English.

6.

Early commitment of cardiovascular autonomic modulation in Brazilian patients with congenital generalized lipodystrophy.

Ponte CMM, Fernandes VO, Gurgel MHC, Vasconcelos ITGF, Karbage LBAS, Liberato CBR, Negrato CA, Gomes MB, Montenegro APDR, Montenegro Júnior RM.

BMC Cardiovasc Disord. 2018 Jan 12;18(1):6. doi: 10.1186/s12872-017-0738-4.

7.

The First Report of a Japanese Case of Seipinopathy with a BSCL2 N88S Mutation.

Minami K, Takahashi S, Nihei Y, Oki K, Suzuki S, Ito D, Takashima H, Suzuki N.

Intern Med. 2018 Feb 15;57(4):613-615. doi: 10.2169/internalmedicine.8765-16. Epub 2017 Dec 21.

8.

Clinical outcome in a series of pediatric patients with congenital generalized lipodystrophies treated with dietary therapy.

Papendieck L, Araujo MB.

J Pediatr Endocrinol Metab. 2018 Jan 26;31(1):77-83. doi: 10.1515/jpem-2017-0355.

PMID:
29267171
9.

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

Altay C, Seçil M, Demir T, Atik T, Akıncı G, Özdemir Kutbay N, Keskin Temeloğlu E, Yıldırım Şimşir I, Özışık S, Demir L, Eren E, Tuna EB, Aytaç H, Onay H, Akıncı B.

Diagn Interv Radiol. 2017 Nov-Dec;23(6):428-434. doi: 10.5152/dir.2017.17019.

10.

Clinical and molecular characterization of two Chinese patients with Type 2 congenital generalized lipodystrophy.

Chen R, Yuan X, Wang J, Zhang Y.

Gene. 2017 Dec 30;637:57-62. doi: 10.1016/j.gene.2017.09.023. Epub 2017 Sep 12.

PMID:
28916377
11.

Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study.

Akinci G, Topaloglu H, Demir T, Danyeli AE, Talim B, Keskin FE, Kadioglu P, Talip E, Altay C, Yaylali GF, Bilen H, Nur B, Demir L, Onay H, Akinci B.

Neuromuscul Disord. 2017 Oct;27(10):923-930. doi: 10.1016/j.nmd.2017.05.015. Epub 2017 Jun 1.

PMID:
28754454
12.

Genetics of Lipodystrophy.

Lightbourne M, Brown RJ.

Endocrinol Metab Clin North Am. 2017 Jun;46(2):539-554. doi: 10.1016/j.ecl.2017.01.012. Epub 2017 Feb 22. Review.

13.

MECHANISTIC INSIGHTS INTO OSTEOPOROSIS IN PATIENTS WITH LIPODYSTROPHY AND REVIEW OF THE LITERATURE.

Huang L, Shi H, Zhou X.

Endocr Pract. 2017 Jul;23(7):857-862. doi: 10.4158/EP161686.RA. Epub 2017 Apr 27. Review.

PMID:
28448764
14.

Normal bone density and trabecular bone score, but high serum sclerostin in congenital generalized lipodystrophy.

Lima JG, Nobrega LHC, Lima NN, Dos Santos MCF, Baracho MFP, Winzenrieth R, Bandeira F, Mendes-Aguiar CO, Neto FPF, Ferreira LC, Rosen CJ, Jeronimo SMB.

Bone. 2017 Aug;101:21-25. doi: 10.1016/j.bone.2017.03.053. Epub 2017 Apr 6.

15.

Group schema therapy for personality disorders: A pilot study for implementation in acute psychiatric in-patient settings.

Nenadić I, Lamberth S, Reiss N.

Psychiatry Res. 2017 Jul;253:9-12. doi: 10.1016/j.psychres.2017.01.093. Epub 2017 Feb 3.

PMID:
28319789
16.

Conversations between insulin and bone: Potential mechanism of high bone density in patients with Berardinelli-Seip Congenital Lipodystrophy.

Lima JG, Lima NN, Nobrega LH, Jeronimo SM.

Med Hypotheses. 2016 Dec;97:94-97. doi: 10.1016/j.mehy.2016.10.025. Epub 2016 Oct 29.

PMID:
27876139
17.

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. doi: 10.1002/ajmg.a.38053. Epub 2016 Nov 21.

18.

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. doi: 10.1007/s11745-016-4210-5. Epub 2016 Nov 12.

PMID:
27838812
19.

Lipodystrophy Syndromes.

Hussain I, Garg A.

Endocrinol Metab Clin North Am. 2016 Dec;45(4):783-797. doi: 10.1016/j.ecl.2016.06.012. Epub 2016 Oct 6. Review.

PMID:
27823605
20.

Characterization of a caveolin-1 mutation associated with both pulmonary arterial hypertension and congenital generalized lipodystrophy.

Han B, Copeland CA, Kawano Y, Rosenzweig EB, Austin ED, Shahmirzadi L, Tang S, Raghunathan K, Chung WK, Kenworthy AK.

Traffic. 2016 Dec;17(12):1297-1312. doi: 10.1111/tra.12452. Epub 2016 Nov 2.

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