منابع مشابه
Ciliopathy in PCS (MVA) syndrome
The spindle assembly checkpoint (SAC) is a surveillance mechanism of faithful chromosome segregation during mitosis. Budding uninhibited by benzimidazole-related-1 (BubR1) plays a central role in the SAC through inhibition of anaphase promoting complex/cyclosome (APC/C) activity until all chromosomes have established proper attachment to the mitotic spindle. Loss-of-function mutations in the BU...
متن کاملExpanding the phenotype of CRB2 mutations - A new ciliopathy syndrome?
Recessive CRB2 mutations were recently reported to cause both steroid resistant nephrotic syndrome and prenatal onset ventriculomegaly with kidney disease. We report two Ashkenazi Jewish siblings clinically diagnosed with ciliopathy. Both presented with severe congenital hydrocephalus and mild urinary tract anomalies. One affected sibling also has lung hypoplasia and heart defects. Exome sequen...
متن کاملBirt-Hogg-Dube syndrome is a novel ciliopathy.
Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant disorder where patients are predisposed to kidney cancer, lung and kidney cysts and benign skin tumors. BHD is caused by heterozygous mutations affecting folliculin (FLCN), a conserved protein that is considered a tumor suppressor. Previous research has uncovered multiple roles for FLCN in cellular physiology, yet it remains unclear how the...
متن کاملMechanistic insights into Bardet-Biedl syndrome, a model ciliopathy.
Bardet-Biedl syndrome (BBS) is a multisystemic disorder typified by developmental and progressive degenerative defects. A combination of genetic, in vitro, and in vivo studies have highlighted ciliary dysfunction as a primary cause of BBS pathology, which has in turn contributed to the improved understanding of the functions of the primary cilium in humans and other vertebrates. Here we discuss...
متن کاملInsufficiency of BUBR1, a mitotic spindle checkpoint regulator, causes impaired ciliogenesis in vertebrates.
Budding uninhibited by benzimidazole-related 1 (BUBR1) is a central molecule of the spindle assembly checkpoint. Germline mutations in the budding uninhibited by benzimidazoles 1 homolog beta gene encoding BUBR1 cause premature chromatid separation (mosaic variegated aneuploidy) [PCS (MVA)] syndrome, which is characterized by constitutional aneuploidy and a high risk of childhood cancer. Patien...
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ژورنال
عنوان ژورنال: Oncotarget
سال: 2015
ISSN: 1949-2553
DOI: 10.18632/oncotarget.5244