2004
DOI: 10.1038/ng1449
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Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

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Cited by 553 publications
(501 citation statements)
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“…Our mouse genetic study shows that haplo-insufficiency of BubR1 results in enhanced genomic instability and development of cancer in lung and colon (Dai et al, 2004;Rao et al, 2005). Consistently, a recent study shows that a compromised BubR1 activity due to specific germline mutations causes aneuploidy, infertility and/or early onset of malignancies (Hanks et al, 2004), strongly suggesting that spindle checkpoint failure is an underlying cause for the development of certain diseases.…”
Section: Introductionsupporting
confidence: 87%
“…Our mouse genetic study shows that haplo-insufficiency of BubR1 results in enhanced genomic instability and development of cancer in lung and colon (Dai et al, 2004;Rao et al, 2005). Consistently, a recent study shows that a compromised BubR1 activity due to specific germline mutations causes aneuploidy, infertility and/or early onset of malignancies (Hanks et al, 2004), strongly suggesting that spindle checkpoint failure is an underlying cause for the development of certain diseases.…”
Section: Introductionsupporting
confidence: 87%
“…Mutational analysis of one of the mitotic checkpoint genes, BUB1B, in eight families with MVA by Hanks et al 4 showed that five families carry mutations in BUB1B in both alleles. Four families have either nonsense or frameshift mutations in one allele that result in the premature truncation of the encoded BUBR1 protein, deleting its kinase domain and thus inactivating its function.…”
Section: Mva Syndromementioning
confidence: 99%
“…The paper by Hanks et al 4 is a perfect illustration of the idea that uncovering the underlying genetic basis of a rare disease with increased cancer risk can contribute to the understanding of general aspects of tumorigenesis.…”
Section: Mva Syndromementioning
confidence: 99%
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“…[105] Similarly, humans that harbor mutations, among others, in the gene encoding the human homologue for BubR1 (BUB1B) suffer from a rare accelerated aging disease, mosaic variegated aneuploidy or MVA, which leads to a significantly increased number of aneuploid cells in these patients. [106][107][108] The premature aging phenotype observed in BubR1 hypomorphic mice coincides with an accumulation of senescent cells. [109] Strikingly, clearing these senescent cells significantly reduces and even partially reverts the aging phenotype.…”
Section: What Effect Do Cin and Aneuploidy Have On Aging?mentioning
confidence: 99%