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 کاملNephronophthisis: A Genetically Diverse Ciliopathy
Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease and a leading genetic cause of established renal failure (ERF) in children and young adults. Early presenting symptoms in children with NPHP include polyuria, nocturia, or secondary enuresis, pointing to a urinary concentrating defect. Renal ultrasound typically shows normal kidney size with increased echogenicity and corti...
متن کاملNephronophthisis: disease mechanisms of a ciliopathy.
Nephronophthisis (NPHP), a recessive cystic kidney disease, is the most frequent genetic cause of end-stage kidney disease in children and young adults. Positional cloning of nine genes (NPHP1 through 9) and functional characterization of their encoded proteins (nephrocystins) have contributed to a unifying theory that defines cystic kidney diseases as "ciliopathies." The theory is based on the...
متن کاملRenal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signaling.
Nephronophthisis-related ciliopathies (NPHP-RCs) are developmental and degenerative kidney diseases that are frequently associated with extrarenal pathologies such as retinal degeneration, obesity, and intellectual disability. We recently identified mutations in a gene encoding the centrosomal protein SDCCAG8 as causing NPHP type 10 in humans. To study the role of Sdccag8 in disease pathogenesi...
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...
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ژورنال
عنوان ژورنال: Nihon Shoni Jinzobyo Gakkai Zasshi
سال: 2012
ISSN: 0915-2245,1881-3933
DOI: 10.3165/jjpn.25.127