2008
DOI: 10.1038/ng.86
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Mutations in the cyclin family member FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus and anogenital and renal malformations

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Cited by 48 publications
(61 citation statements)
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“…Fortunately, we were able to generate histological sections of a renal biopsy taken from a single STAR patient diagnosed with nephroblastoma. 26,42 We compared these sections with those from a control (non-STAR) nephroblastoma patient and, to ensure that the tumor did not interfere with our investigation, we focused specifically on the adjacent non-tumoral renal tissues. We observed dilated tubules in the STAR patient tissue, compared to the control (Fig.…”
Section: Cdk10/cycm Represses Ciliogenesis In a Rhoa Dependent Mannermentioning
confidence: 99%
See 1 more Smart Citation
“…Fortunately, we were able to generate histological sections of a renal biopsy taken from a single STAR patient diagnosed with nephroblastoma. 26,42 We compared these sections with those from a control (non-STAR) nephroblastoma patient and, to ensure that the tumor did not interfere with our investigation, we focused specifically on the adjacent non-tumoral renal tissues. We observed dilated tubules in the STAR patient tissue, compared to the control (Fig.…”
Section: Cdk10/cycm Represses Ciliogenesis In a Rhoa Dependent Mannermentioning
confidence: 99%
“…22,23,25 STAR syndrome is an X-linked dominant disorder caused by mutations in family with sequence similarity 58, member A (FAM58A). 26 We recently reported that Cyclin M (CycM), encoded by FAM58A, interacts with Cyclin-Dependent Kinase 10 (CDK10) to form an active protein kinase. 27 We demonstrated that STAR syndrome-associated CycM mutants fail to interact with CDK10, thus compromising CDK10 kinase activity.…”
Section: Introductionmentioning
confidence: 99%
“…In addition to head and neck squamous cell carcinomas, FAT1 mutations are frequently observed in central nervous system, colorectal, and ovarian cancers. FAM58A (family with sequence similarity 58, member A) encodes cyclin M, which regulates CDK10 and interacts with SALL1 (62,63). Mutations in FAM58A cause an X-linked dominant disorder characterized by syndactyly, telecanthus, anogenital, and renal malformations.…”
Section: Mutations That May Sensitize Cancer Cells To Secreted Wnt LImentioning
confidence: 99%
“…Because cyclin M binds to and activates CDK10, and mutations in FAM58A (the gene encoding cyclin M) lead to STAR syndrome (MIM: 300707), 8,9 we compared the two syndromes (see Table S5). Superficially, the two syndromes might appear related, but careful comparison reveals that they are clinically distinct.…”
Section: Discussionmentioning
confidence: 99%
“…X-linked mutations in FAM58A have been reported to cause STAR syndrome (MIM: 300707). 8,9 Recently, it was revealed that CDK10/ cyclin M complexes phosphorylate the protein kinase PKN2, which affects cilia growth. 10 In zebrafish, morpholino-mediated silencing of cdk10 impaired neurogenesis by modulating raf1a expression.…”
Section: Introductionmentioning
confidence: 99%