12 Result(s)
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Article
Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers
Adam Shlien, Peter Campbell, Uri Tabori and colleagues report genome and exome sequencing of biallelic mismatch repair deficiency cancer samples from 12 children, including 10 high-grade gliomas. The hypermuta...
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Recurrent PTPRB and PLCG1 mutations in angiosarcoma
Peter Campbell and colleagues identify PLCG1 and PTPRB as new driver genes for angiosarcoma through whole-exome sequencing of tumor samples. They find somatic PTPRB mutations in 10 of 39 cases and PLCG1 mutations...
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Article
Correction: Corrigendum: Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone
Nat. Genet. 45, 1479–1482 (2013); published online 27 October 2013; corrected after print 6 February 2014 In the version of this article initially published, the name of author Victoria Goody was misspelled, a...
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Article
Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone
Adrienne Flanagan and colleagues identify distinct driver mutations in H3F3A and H3F3B in chondroblastoma and giant cell tumor of bone. The mutations occur in over 90% of tumors and exhibit a high degree of tumor...
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Frequent mutation of the major cartilage collagen gene COL2A1 in chondrosarcoma
Andrew Futreal and colleagues identify the major cartilage collagen gene COL2A1 as a frequent target of somatic mutation in chondrosarcoma. The mutation patterns are consistent with selection for variants likely ...
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Article
A common single-nucleotide variant in T is strongly associated with chordoma
Adrienne Flanagan and colleagues identify a common variant in the T gene associated with strong risk of chordoma, a rare malignant bone tumor. The risk variant alters an amino acid in the DNA-binding domain of th...
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Article
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability
Cheryl Shoubridge and Jozef Gecz and colleagues report the identification of mutations in IQSEC2, a guanine nucleotide exchange factor for ARF GTPases, in individuals with non-syndromic intellectual disability.
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Article
Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer
Andrew Futreal and colleagues report inactivating somatic mutations in the histone lysine demethylase gene UTX in human cancers, including multiple myelomas, esophageal squamous carcinomas, renal clear cell carci...
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Article
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
Tarpey et al. carry out a large-scale systematic sequencing of the majority of X-chromosome coding exons from 208 families with multiple individuals with mental retardation and a pattern of transmission compatibl...
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Refined map** of X-linked reticulate pigmentary disorder and sequencing of candidate genes
X-linked reticulate pigmentary disorder with systemic manifestations in males (PDR) is very rare. Affected males are characterized by cutaneous and visceral symptoms suggestive of abnormally regulated inflamma...
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Article
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
Epilepsy and mental retardation limited to females (EFMR) is a disorder with an X-linked mode of inheritance and an unusual expression pattern. Disorders arising from mutations on the X chromosome are typicall...
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Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation
Nonsense-mediated mRNA decay (NMD) is of universal biological significance1,2,3. It has emerged as an important global RNA, DNA and translation regulatory pathway4. By systematically sequencing 737 genes (annotat...
