A Case of Cowden's Disease Complicated by PTEN Gene Mutation

Takagaki, Shinichi; Ishikawa, Takayuki; Maruta, Koji; Taira, Satoru; Shimizu, Naoki; Sudou, Ichirou; Miyaoka, Masaaki

doi:10.11641/pde.59.2_56

Cited by 3 publications

(2 citation statements)

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“…Marsh et al [1998], noting that the PTEN mutational spectrum also involves overlap, suggested the name “ PTEN hamartoma‐tumour syndrome.” The syndrome is reviewed elsewhere [Liaw et al, 1997; Lynch et al, 1997; Marsh et al, 1997, 1998; Bonneau and Longy, 2000]. A large Japanese series has also been reported [Iida et al, 1998; Kohno et al, 1998; Kurose et al, 1999; Kubo et al, 2000; Negoro et al, 2000; Sawada et al, 2000; Kato et al, 2001; Takagaki et al, 2001].…”

Section: Introductionmentioning

confidence: 99%

Temporal and spatial expression profile of the novelarmadillo-related gene,Alex2, during testicular differentiation in the mouse embryo

2005

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In a screen for transcripts differentially expressed during gonadal development in mouse embryos, we identified the novel armadillo-related gene, Alex2. The armadillo (arm) family of proteins share a 42 amino acid tandem repeat motif called the arm domain, through which they interact with different binding partners. These intracellular proteins are implicated in a variety of developmental processes, including cell proliferation, migration, maintenance of tissue integrity, and tumorigenesis. Alex2 is a member of a novel subgroup within the arm family, encoding a protein with a single arm domain and a putative transmembrane or signal sequence. Alex2 has a developmentally regulated expression profile during embryogenesis in the mouse. In the urogenital system, it is strongly expressed in the developing testis but is down-regulated during ovarian development. Alex2 expression is localized within the interstitial cell lineage of the developing testis, which gives rise to peritubular myoid, endothelial, and fetal Leydig cells. Alex2 is also expressed in the developing forebrain and somites and in dorsal root ganglia. In testicular cell lines, Alex2 fusion proteins localize to membrane structures within the cell. The expression profile of Alex2 suggests that it plays a role in the development of several tissues during embryogenesis, notably testicular differentiation. In the developing testis, its expression profile suggests that Alex2 has a role in specification or development of the interstitial cell lineage. Developmental Dynamics 233:188 -193, 2005.

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Section: Introductionmentioning

confidence: 99%

Temporal and spatial expression profile of the novelarmadillo-related gene,Alex2, during testicular differentiation in the mouse embryo

2005

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“…The syndrome is reviewed elsewhere Lynch et al, 1997;Marsh et al, 1997Marsh et al, , 1998Bonneau and Longy, 2000]. A large Japanese series has also been reported [Iida et al, 1998;Kohno et al, 1998;Kurose et al, 1999;Kubo et al, 2000;Negoro et al, 2000;Sawada et al, 2000;Kato et al, 2001;Takagaki et al, 2001].…”

Section: Introductionmentioning

confidence: 99%

Two novel mutations of PTEN gene in Japanese patients with Cowden syndrome

Sawada

Okada

Miwa

et al. 2003

American J of Med Genetics Pt A

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Cowden syndrome (CS), also known as multiple hamartoma syndrome, is an autosomal dominant cancer syndrome associated with high risk of breast and thyroid cancer. In three unrelated Japanese CS patients, three PTEN germline mutations were identified, including two novel ones: 589A --> T, resulting in Lys197Stop, and 219-222delAAGA. We also detected a previously reported mutation: 697C --> T, resulting in Arg233Stop. Reports from Western countries have indicated that approximately two-thirds of mutations are found in exons 5, 7, and 8, which is almost the same frequency as found in Japanese CS. No genotype-phenotype correlations have been found in CS patients from 21 Japanese families.

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