Literature DB >> 9915974

Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene.

K Kurose, T Araki, T Matsunaka, Y Takada, M Emi.   

Abstract

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Year:  1999        PMID： 9915974      PMCID： PMC1377733          DOI： 10.1086/302207

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  9 in total

1.  Frequent loss of PTEN expression is linked to elevated phosphorylated Akt levels, but not associated with p27 and cyclin D1 expression, in primary epithelial ovarian carcinomas.

Authors:  K Kurose; X P Zhou; T Araki; S A Cannistra; E R Maher; C Eng
Journal:  Am J Pathol       Date:  2001-06       Impact factor: 4.307

2.  Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes.

Authors:  X P Zhou; K Woodford-Richens; R Lehtonen; K Kurose; M Aldred; H Hampel; V Launonen; S Virta; R Pilarski; R Salovaara; W F Bodmer; B A Conrad; M Dunlop; S V Hodgson; T Iwama; H Järvinen; I Kellokumpu; J C Kim; B Leggett; D Markie; J P Mecklin; K Neale; R Phillips; J Piris; P Rozen; R S Houlston; L A Aaltonen; I P Tomlinson; C Eng
Journal:  Am J Hum Genet       Date:  2001-08-30       Impact factor: 11.025

Review 3.  Protean PTEN: form and function.

Authors:  Kristin A Waite; Charis Eng
Journal:  Am J Hum Genet       Date:  2002-03-01       Impact factor: 11.025

4.  High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.

Authors:  S Aretz; D Stienen; S Uhlhaas; M Stolte; M M Entius; S Loff; W Back; A Kaufmann; K-M Keller; S H Blaas; R Siebert; S Vogt; S Spranger; E Holinski-Feder; L Sunde; P Propping; W Friedl
Journal:  J Med Genet       Date:  2007-09-14       Impact factor: 6.318

5.  Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases.

Authors:  Y M C Hendriks; J T C M Verhallen; J J van der Smagt; S G Kant; Y Hilhorst; L Hoefsloot; K B-M Hansson; P J C van der Straaten; H Boutkan; M H Breuning; H F A Vasen; A H J T Bröcker-Vriends
Journal:  Fam Cancer       Date:  2003       Impact factor: 2.375

Review 6.  Cowden syndrome: a critical review of the clinical literature.

Authors:  Robert Pilarski
Journal:  J Genet Couns       Date:  2008-10-30       Impact factor: 2.537

7.  Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.

Authors:  K L Lachlan; A M Lucassen; D Bunyan; I K Temple
Journal:  J Med Genet       Date:  2007-05-25       Impact factor: 6.318

8.  Upper and Lower Gastrointestinal Findings in PTEN Mutation-Positive Cowden Syndrome Patients Participating in an Active Surveillance Program.

Authors:  Zohar Levi; Hagit N Baris; Inbal Kedar; Yaron Niv; Alex Geller; Eyal Gal; Rachel Gingold; Sara Morgenstern; Yacov Baruch; Brandie Heald Leach; Mary P Bronner; Charis Eng
Journal:  Clin Transl Gastroenterol       Date:  2011-11-17       Impact factor: 4.488

9.  Germline TTN variants are enriched in PTEN-wildtype Bannayan-Riley-Ruvalcaba syndrome.

Authors:  Lamis Yehia; Ying Ni; Charis Eng
Journal:  NPJ Genom Med       Date:  2017-12-18       Impact factor: 8.617
  9 in total

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