Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?
作者: Marie MorimotoClara MyungKimberly BeirnesKunho ChoiYumi AsakuraArend BokenkampDominique BonneauMilena BrugnaraJoel CharrowEstelle ColinAmira DavisGeorges DeschenesMattia GentileMario GiordanoAndrew K. GormleyRajeshree GovenderMark JosephKory KellerEvelyne LerutElena LevtchenkoLaura MassellaChristy MayfieldBehzad NajafianDavid ParhamJurgen SprangerPeter StenzelUluc YisZhongxin YuJonathan ZonanaGlenda HendsonCornelius F. Boerkoel
作者单位: 1University of British Columbia
2Child & Family Research Institute
3Kanagawa Children’s Medical Center
4VU University Medical Center
5Centre Hospitalier Universitaire d’Angers
6University of Verona
7Northwestern University Feinberg School of Medicine
8Seattle Children’s Hospital
9Hôpital Robert Debré
10Hospital Di Venere – ASL Bari
11Ospedale Pediatrico Giovanni XXIII
12University of Oklahoma Health Sciences Center
13University of KwaZulu-Natal
14Phoenix Children’s Hospital
15Oregon Institute on Disability & Development, Oregon Health & Science University
16University Hospitals Leuven
17Bambino Gesù Children’s Hospital and Research Institute
18Warren Clinic Family Medicine
19University of Washington
20University of Southern California
21University of Mainz
22Oregon Health and Science University
23Dokuz Eylül University, School of Medicine
24Children’s and Women’s Health Centre of British Columbia
刊名: Orphanet Journal of Rare Diseases, 2016, Vol.11 (1)
来源数据库: Springer Journal
DOI: 10.1186/s13023-016-0519-7
关键词: Schimke immuno-osseous dysplasiaSMARCAL1 proteinFocal segmental glomerulosclerosisWnt signaling pathwayNotch signaling pathway
英文摘要: Abstract(#br) Background(#br)Schimke immuno-osseous dysplasia (SIOD) is a multisystemic disorder caused by biallelic mutations in the S WI/SNF-related m atrix-associated a ctin-dependent r egulator of c hromatin, subfamily A - l ike 1 ( SMARCAL1 ) gene. Changes in gene expression underlie the arteriosclerosis and T-cell immunodeficiency of SIOD; therefore, we hypothesized that SMARCAL1 deficiency causes the focal segmental glomerulosclerosis (FSGS) of SIOD by altering renal gene expression. We tested this hypothesis by gene expression analysis of an SIOD patient kidney and verified these findings through immunofluorescent analysis in additional SIOD patients and a genetic interaction analysis in Drosophila .(#br) Results(#br)We found increased expression of components and targets of the...
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影响因子:4.315 (2012)

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关键词翻译
关键词翻译
  • immuno 免疫
  • osseous 骨质的
  • dysplasia 发育异常
  • renal 肾的
  • signaling 发信号
  • disease