Institution
Myriad Genetics
Company•Munich, Germany•
About: Myriad Genetics is a company organization based out in Munich, Germany. It is known for research contribution in the topics: Cancer & Breast cancer. The organization has 562 authors who have published 586 publications receiving 56046 citations. The organization is also known as: Myriad Genetics, Inc..
Topics: Cancer, Breast cancer, Population, Gene, Prostate cancer
Papers published on a yearly basis
Papers
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TL;DR: A strong candidate for the 17q-linked BRCA1 gene, which influences susceptibility to breast and ovarian cancer, has been identified by positional cloning methods.
Abstract: A strong candidate for the 17q-linked BRCA1 gene, which influences susceptibility to breast and ovarian cancer, has been identified by positional cloning methods. Probable predisposing mutations have been detected in five of eight kindreds presumed to segregate BRCA1 susceptibility alleles. The mutations include an 11-base pair deletion, a 1-base pair insertion, a stop codon, a missense substitution, and an inferred regulatory mutation. The BRCA1 gene is expressed in numerous tissues, including breast and ovary, and encodes a predicted protein of 1863 amino acids. This protein contains a zinc finger domain in its amino-terminal region, but is otherwise unrelated to previously described proteins. Identification of BRCA1 should facilitate early diagnosis of breast and ovarian cancer susceptibility in some individuals as well as a better understanding of breast cancer biology.
6,118 citations
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TL;DR: A draft sequence of the rice genome for the most widely cultivated subspecies in China, Oryza sativa L. ssp.indica, by whole-genome shotgun sequencing is produced, with a large proportion of rice genes with no recognizable homologs due to a gradient in the GC content of rice coding sequences.
Abstract: We have produced a draft sequence of the rice genome for the most widely cultivated subspecies in China, Oryza sativa L. ssp. indica, by whole-genome shotgun sequencing. The genome was 466 megabases in size, with an estimated 46,022 to 55,615 genes. Functional coverage in the assembled sequences was 92.0%. About 42.2% of the genome was in exact 20-nucleotide oligomer repeats, and most of the transposons were in the intergenic regions between genes. Although 80.6% of predicted Arabidopsis thaliana genes had a homolog in rice, only 49.4% of predicted rice genes had a homolog in A. thaliana. The large proportion of rice genes with no recognizable homologs is due to a gradient in the GC-content of rice coding sequences.
4,064 citations
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TL;DR: Findings suggest that MTS1 mutations are involved in tumor formation in a wide range of tissues.
Abstract: A putative tumor suppressor locus on the short arm of human chromosome 9 has been localized to a region of less than 40 kilobases by means of homozygous deletions in melanoma cell lines. This region contained a gene, Multiple Tumor Suppressor 1 (MTS1), that encodes a previously identified inhibitor (p16) of cyclin-dependent kinase 4. MTS1 was homozygously deleted at high frequency in cell lines derived from tumors of lung, breast, brain, bone, skin, bladder, kidney, ovary, and lymphocyte. Melanoma cell lines that carried at least one copy of MTS1 frequently carried nonsense, missense, or frameshift mutations in the gene. These findings suggest that MTS1 mutations are involved in tumor formation in a wide range of tissues.
2,855 citations
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TL;DR: The results identify a strong candidate tumour suppressor gene at chromosome 10q23.3, whose loss of function appears to be associated with the oncogenesis of multiple human cancers.
Abstract: Deletions involving regions of chromosome 10 occur in the vast majority (> 90%) of human glioblastoma multiformes. A region at chromosome 10q23-24 was implicated to contain a tumour suppressor gene and the identification of homozygous deletions in four glioma cell lines further refined the location. We have identified a gene, designated MMAC1, that spans these deletions and encodes a widely expressed 5.5-kb mRNA. The predicted MMAC1 protein contains sequence motifs with significant homology to the catalytic domain of protein phosphatases and to the cytoskeletal proteins, tensin and auxilin. MMAC1 coding-region mutations were observed in a number of glioma, prostate, kidney and breast carcinoma cell lines or tumour specimens. Our results identify a strong candidate tumour suppressor gene at chromosome 10q23.3, whose loss of function appears to be associated with the oncogenesis of multiple human cancers.
2,777 citations
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TL;DR: It is shown that a relatively recent (>50 million years ago) genome-wide duplication has resulted in the transition from nine ancestral chromosomes to 17 chromosomes in the Pyreae, which partly support the monophyly of the ancestral paleohexaploidy of eudicots.
Abstract: We report a high-quality draft genome sequence of the domesticated apple (Malus × domestica). We show that a relatively recent (>50 million years ago) genome-wide duplication (GWD) has resulted in the transition from nine ancestral chromosomes to 17 chromosomes in the Pyreae. Traces of older GWDs partly support the monophyly of the ancestral paleohexaploidy of eudicots. Phylogenetic reconstruction of Pyreae and the genus Malus, relative to major Rosaceae taxa, identified the progenitor of the cultivated apple as M. sieversii. Expansion of gene families reported to be involved in fruit development may explain formation of the pome, a Pyreae-specific false fruit that develops by proliferation of the basal part of the sepals, the receptacle. In apple, a subclade of MADS-box genes, normally involved in flower and fruit development, is expanded to include 15 members, as are other gene families involved in Rosaceae-specific metabolism, such as transport and assimilation of sorbitol.
1,718 citations
Authors
Showing all 562 results
Name | H-index | Papers | Citations |
---|---|---|---|
Richard D. Smith | 140 | 1180 | 79758 |
Rosalind A. Eeles | 106 | 544 | 45058 |
David E. Goldgar | 103 | 419 | 50450 |
Mark H. Pollack | 89 | 464 | 26511 |
Jacques Simard | 83 | 409 | 28493 |
Julian R. Sampson | 71 | 212 | 22192 |
Johanna M. Rommens | 71 | 202 | 42630 |
David A. Frank | 68 | 201 | 17557 |
Sean V. Tavtigian | 65 | 194 | 35641 |
Mark H. Skolnick | 64 | 211 | 30548 |
Lisa A. Cannon-Albright | 62 | 327 | 28945 |
Alexander Gutin | 54 | 167 | 17705 |
Dominic P. Williams | 49 | 134 | 6665 |
Nelleke A. Gruis | 49 | 159 | 13080 |
Nicola J. Camp | 46 | 213 | 7772 |