DOI: 10.1016/s0165-4608(00)00303-4. Identification of a novel PTEN intronic deletion in Li-Fraumeni syndrome and its effect on RNA processing

Identification of a novel PTEN intronic deletion in Li-Fraumeni syndrome and its effect on RNA processing

10.1016/s0165-4608(00)00303-4

Crossref journal-article

Elsevier BV

Cancer Genetics and Cytogenetics (78)

Bibliography

Brown, L. T. R., Sexsmith, E., & Malkin, D. (2000). Identification of a novel PTEN intronic deletion in Li-Fraumeni syndrome and its effect on RNA processing. Cancer Genetics and Cytogenetics, 123(1), 65â68.

Authors 3

Lauren T.R Brown (first)
Elizabeth Sexsmith (additional)
David Malkin (additional)

References 31 Referenced 13

{'key': '10.1016/S0165-4608(00)00303-4_BIB1', 'first-page': '5358', 'article-title': 'A cancer family syndrome in twenty-four kindreds', 'volume': '48', 'author': 'Li', 'year': '1988', 'journal-title': 'Can Res'} / Can Res / A cancer family syndrome in twenty-four kindreds by Li (1988)
10.1126/science.1978757 / Science / Germline p53 mutations in a familial syndrome of breast cancer, sarcomas and other neoplasms by Malkin (1990)
10.1038/348747a0 / Nature / Germline transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome by Srivastava (1990)
{'key': '10.1016/S0165-4608(00)00303-4_BIB4', 'first-page': '608', 'article-title': 'Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome', 'volume': '56', 'author': 'Frebourg', 'year': '1994', 'journal-title': 'Am J Hum Genet'} / Am J Hum Genet / Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome by Frebourg (1994)
{'key': '10.1016/S0165-4608(00)00303-4_BIB5', 'first-page': '3245', 'article-title': 'Germ-line mutations of TP53 in Li-Fraumeni families', 'volume': '57', 'author': 'Varley', 'year': '1997', 'journal-title': 'Can Res'} / Can Res / Germ-line mutations of TP53 in Li-Fraumeni families by Varley (1997)
{'key': '10.1016/S0165-4608(00)00303-4_BIB6', 'first-page': '1298', 'article-title': 'Prevelence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families', 'volume': '54', 'author': 'Birch', 'year': '1994', 'journal-title': 'Can Res'} / Can Res / Prevelence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families by Birch (1994)
{'key': '10.1016/S0165-4608(00)00303-4_BIB7', 'first-page': '101', 'article-title': 'Germline mutations in the TP53 gene', 'volume': '25', 'author': 'Eeles', 'year': '1995', 'journal-title': 'Can Surv'} / Can Surv / Germline mutations in the TP53 gene by Eeles (1995)
10.1126/science.275.5308.1943 / Science / PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer by Li (1997)
10.1038/ng0497-356 / Nature Genetics / Identification of candidate tumor suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers by Steck (1997)
{'key': '10.1016/S0165-4608(00)00303-4_BIB10', 'first-page': '2124', 'article-title': 'TEP1, Encoded by a candidate tumor suppressor locus, is a novel protein tyrosine phosphatase regulated by transforming growth factor β', 'volume': '57', 'author': 'Li', 'year': '1997', 'journal-title': 'Can Res'} / Can Res / TEP1, Encoded by a candidate tumor suppressor locus, is a novel protein tyrosine phosphatase regulated by transforming growth factor β by Li (1997)
{'key': '10.1016/S0165-4608(00)00303-4_BIB11', 'first-page': '4183', 'article-title': 'Somatic mutations of PTEN in glioblastoma multiforme', 'volume': '57', 'author': 'Wang', 'year': '1997', 'journal-title': 'Can Res'} / Can Res / Somatic mutations of PTEN in glioblastoma multiforme by Wang (1997)
10.1038/sj.onc.1201756 / Oncogene / PTEN mutations in gliomas and glioneuronal tumors by Duerr (1998)
{'key': '10.1016/S0165-4608(00)00303-4_BIB13', 'first-page': '4997', 'article-title': 'Frequent inactivation of PTEN/MMAC1 in primary prostate cancer', 'volume': '57', 'author': 'Cairns', 'year': '1997', 'journal-title': 'Can Res'} / Can Res / Frequent inactivation of PTEN/MMAC1 in primary prostate cancer by Cairns (1997)
10.1038/sj.onc.1202081 / Oncogene / PTEN/MMAC1/TEP1 involvement in primary prostate cancers by Presche (1998)
10.1038/sj.onc.1201940 / Oncogene / Allelic loss of chromosome 10q23 is associated with tumor progression in breast carcinomas by Bose (1998)
10.1038/sj.bjc.6690121 / Br J Cancer / Exclusion of a major role for the PTEN tumour-suppressor gene in breast carcinomas by Freihoff (1999)
10.1038/ng0597-64 / Nat Genet / Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome by Liaw (1997)
10.1038/ng0897-333 / Nat Genet / Germline mutations in PTEN are present in Bannayan-Zonana syndrome by Marsh (1997)
10.1093/hmg/6.8.1383 / Hum Mol Genet / Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease by Nelen (1996)
10.1074/jbc.273.22.13375 / J Biol Chem / The tumor suppressor, PTEN/MMAC1, dephosphorylates the lipid second messenger, phosphatidylinositol 3,4,5-trisphosphate by Maehama (1998)
10.1016/S0092-8674(00)81780-8 / Cell / Negative regulation of PKB/Akt-dependent cell survival by the tumor suppressor PTEN by Stambolic (1998)
10.1073/pnas.96.11.6199 / Proc Natl Acad Sci / PTEN modulates cell cycle progression and cell survival by regulating phosphatidylinositol 3,4,5,-triphosphate and Akt/protein kinase B signaling pathway by Sun (1999)
10.1126/science.280.5369.1614 / Science / Inhibition of cell migration, spreading and focal adhesions by the tumor suppressor PTEN by Tamura (1998)
{'key': '10.1016/S0165-4608(00)00303-4_BIB24', 'first-page': '5002', 'article-title': 'The phosphoinositol phosphatase activity of PTEN mediates a serum-sensitive G1 growth arrest in glioma cells', 'volume': '58', 'author': 'Funari', 'year': '1998', 'journal-title': 'Can Res'} / Can Res / The phosphoinositol phosphatase activity of PTEN mediates a serum-sensitive G1 growth arrest in glioma cells by Funari (1998)
10.1038/317732a0 / Nature / Role of the 3′ splice site consensus sequence in mammalian pre-mRNA splicing by Ruskin (1985)
10.1016/S0092-8674(85)80131-8 / Cell / Stepwise assembly of a pre-mRNA splicing complex requires U-snRNPs and specific intron sequences by Frendewey (1985)
10.1128/MCB.6.7.2582 / Mol Cell Biol / Ribonucleoprotein complex formation during pre-mRNA splicing in vitro by Bindereif (1986)
10.1101/gad.3.12b.2113 / Genes Dev / The organization of 3′ splice-site sequences in mammalian introns by Reed (1989)
10.1073/pnas.88.9.4005 / Proc Natl Acad Sci USA / Exon amplification by Buckler (1991)
10.1038/sj.bjc.6690313 / Br J Cancer / Exclusion of the genes CDKN2 and PTEN as causative gene defects in Li-Fraumeni syndrome by Burt (1999)
Dahia PL, Marsh DJ, Zheng Z, Zedenius J, Komminoth P, Frisk T, Wallin G, Parsons R, Longy M, Larsson C, Eng C. Somatic deletions and mutations in the Cowden disease gene, PTEN, in sporadic thyroid tumors. Can Res 57:4710–13.

Dates

Type	When
Created	23 years, 1 month ago (July 25, 2002, 9:29 a.m.)
Deposited	6 years, 4 months ago (April 24, 2019, 1:29 p.m.)
Indexed	2 years, 6 months ago (Feb. 14, 2023, 4:52 p.m.)
Issued	24 years, 10 months ago (Nov. 1, 2000)
Published	24 years, 10 months ago (Nov. 1, 2000)
Published Print	24 years, 10 months ago (Nov. 1, 2000)

Funders 0

None

BibTeX

@article{Brown_2000, title={Identification of a novel PTEN intronic deletion in Li-Fraumeni syndrome and its effect on RNA processing}, volume={123}, ISSN={0165-4608}, url={http://dx.doi.org/10.1016/s0165-4608(00)00303-4}, DOI={10.1016/s0165-4608(00)00303-4}, number={1}, journal={Cancer Genetics and Cytogenetics}, publisher={Elsevier BV}, author={Brown, Lauren T.R and Sexsmith, Elizabeth and Malkin, David}, year={2000}, month=nov, pages={65–68} }

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    "S0165460800003034"
  ],
  "URL": "http://dx.doi.org/10.1016/S0165-4608(00)00303-4",
  "relation": {},
  "ISSN": [
    "0165-4608"
  ],
  "subject": [],
  "container-title-short": "Cancer Genetics and Cytogenetics",
  "published": {
    "date-parts": [
      [
        2000,
        11
      ]
    ]
  }
}