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Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome

Autor: K. M. Call, Charis Eng, Shikha Bose, Ramon Parsons, Patricia L. M. Dahia, Jing Li, Deborah J. Marsh, Steven I. Wang, Z. Zheng, Danny Liaw, Hui C. Tsou, Monica Peacocke

Publikováno v: Scopus-Elsevier

Cowden disease (CD) is an autosomal dominant cancer predisposition syndrome associated with an elevated risk for tumours of the breast, thyroid and skin1–2. Lhermitte-Duclos disease (LDD) cosegregates with a subset of CD families and is associated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee8523448e04a875e4d6a50490922583
https://doi.org/10.1038/ng0597-64

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Sequence analysis and functional characterization of the violacein biosynthetic pathway from Chromobacterium violaceum

Autor: P R, August, T H, Grossman, C, Minor, M P, Draper, I A, MacNeil, J M, Pemberton, K M, Call, D, Holt, M S, Osburne

Publikováno v: Journal of molecular microbiology and biotechnology. 2(4)

Violacein is a purple-colored, broad-spectrum antibacterial pigment that has a dimeric structure composed of 5-hydroxyindole, oxindole and 2-pyyrolidone subunits formed by the condensation of two modified tryptophan molecules. The violacein biosynthe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::450c56e815e1f4a51784627a11e0e562
https://pubmed.ncbi.nlm.nih.gov/11075927

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Allelic imbalance, including deletion of PTEN/MMACI, at the Cowden disease locus on 10q22-23, in hamartomas from patients with Cowden syndrome and germline PTEN mutation

Autor: D J, Marsh, P L, Dahia, V, Coulon, Z, Zheng, F, Dorion-Bonnet, K M, Call, R, Little, A Y, Lin, R A, Eeles, A M, Goldstein, S V, Hodgson, A L, Richardson, B G, Robinson, H C, Weber, M, Longy, C, Eng

Publikováno v: Genes, chromosomescancer. 21(1)

Cowden disease (CD) is a rare, autosomal dominant inherited cancer syndrome characterized by multiple benign and malignant lesions in a wide spectrum of tissues. While individuals with CD have an increased risk of breast and thyroid neoplasms, the pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::23e7336df314014c5e9cc04faeff6916
https://pubmed.ncbi.nlm.nih.gov/9443042

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Wilms' tumor gene, WT1, mRNA is down-regulated during induction of erythroid and megakaryocytic differentiation of K562 cells

Autor: S A, Phelan, C, Lindberg, K M, Call

Publikováno v: Cell growthdifferentiation : the molecular biology journal of the American Association for Cancer Research. 5(6)

Evidence implicates the product of the Wilms' tumor suppressor gene, WT1, in proliferation and differentiation of target tissues during development. Study of the regulation of other tumor suppressor genes during these processes has been instrumental

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f6460c830cf3755e87efa44e250fde5e
https://pubmed.ncbi.nlm.nih.gov/8086342

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Structural rearrangements of the WT1 gene in Wilms' tumour cells

Autor: J K, Cowell, R B, Wadey, D A, Haber, K M, Call, D E, Housman, J, Pritchard

Publikováno v: Oncogene. 6(4)

We have analysed 55 Wilms' tumour DNAs using the cDNA from the candidate Wilms' predisposition gene, WT1. One tumour, GOS 129, shows a partial homozygous deletion involving only the 3'-most exon of the gene. An adjacent 3' DNA sequence, J7-18, which

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::2a8b58c263a4c4a0b2fbecea0f8ad95d
https://pubmed.ncbi.nlm.nih.gov/1851548

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Killing and mutation of human lymphoblast cells by aflatoxin B1: evidence for an inducible repair response

Autor: D A, Kaden, K M, Call, P M, Leong, E A, Komives, W G, Thilly

Publikováno v: Cancer research. 47(8)

Diploid human lymphoblast cells exhibit apparent saturation of mutation induced by exposure to aflatoxin B1, despite a linear increase in the amount and proportion of the aflatoxin-DNA adducts formed. The saturation is neither a cell cycle phenomenon

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::596d73549c1ac540f2a826a55d5d9765
https://pubmed.ncbi.nlm.nih.gov/3103909

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