Analysis of the PTEN gene mutation in polyposis syndromes and sporadic gastrointestinal tumors in Japanese patients

2000 ◽  
Vol 43 (Sup 10) ◽  
pp. S29-S33 ◽  
Author(s):  
Kenichi Negoro ◽  
Seiichi Takahashi ◽  
Yoshitaka Kinouchi ◽  
Sho Takagi ◽  
Nobuo Hiwatashi ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Japanese Patients ◽  
Gastrointestinal Tumors ◽  
Pten Gene ◽  
Polyposis Syndromes

Novel IL36RN gene mutation revealed by analysis of 8 Japanese patients with generalized pustular psoriasis

2014 ◽  
Vol 76 (3) ◽  
pp. 267-269 ◽  
Author(s):  
Mitsuha Hayashi ◽  
Tsuguhisa Nakayama ◽  
Tomomitsu Hirota ◽  
Hidehisa Saeki ◽  
Yoshimasa Nobeyama ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Japanese Patients ◽  
Pustular Psoriasis ◽  
Generalized Pustular Psoriasis

scholarly journals Lifelong Clinical Impact of the Presence of Sarcomere Gene Mutation in Japanese Patients With Hypertrophic Cardiomyopathy

2020 ◽  
Vol 84 (10) ◽  
pp. 1846-1853
Author(s):  
Yasuteru Nakashima ◽  
Toru Kubo ◽  
Kenta Sugiura ◽  
Yuri Ochi ◽  
Asa Takahashi ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Gene Mutation ◽  
Japanese Patients ◽  
Clinical Impact

scholarly journals Micropenis and the 5α-Reductase-2 (SRD5A2) Gene: Mutation and V89L Polymorphism Analysis in 81 Japanese Patients

2003 ◽  
Vol 88 (7) ◽  
pp. 3431-3436 ◽  
Author(s):  
Goro Sasaki ◽  
Tsutomu Ogata ◽  
Tomohiro Ishii ◽  
Kenjiro Kosaki ◽  
Seiji Sato ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Japanese Patients ◽  
Polymorphism Analysis ◽  
Srd5a2 Gene

Identification of a Novel CLRN1 Gene Mutation in Usher Syndrome Type 3

2015 ◽  
Vol 124 (1_suppl) ◽  
pp. 94S-99S ◽  
Author(s):  
Hidekane Yoshimura ◽  
Chie Oshikawa ◽  
Jun Nakayama ◽  
Hideaki Moteki ◽  
Shin-ichi Usami
Keyword(s):  
Gene Mutation ◽  
Mutation Screening ◽  
Usher Syndrome ◽  
Japanese Patients ◽  
Pathogenic Mutation ◽  
Clinical Findings ◽  
Syndrome Type ◽  
Asian Populations ◽  
Type 3 ◽  
Usher Syndrome Type

Objective: This study examines the CLRN1 gene mutation analysis in Japanese patients who were diagnosed with Usher syndrome type 3 (USH3) on the basis of clinical findings. Methods: Genetic analysis using massively parallel DNA sequencing (MPS) was conducted to search for 9 causative USH genes in 2 USH3 patients. Results: We identified the novel pathogenic mutation in the CLRN1 gene in 2 patients. The missense mutation was confirmed by functional prediction software and segregation analysis. Both patients were diagnosed as having USH3 caused by the CLRN1 gene mutation. Conclusion: This is the first report of USH3 with a CLRN1 gene mutation in Asian populations. Validating the presence of clinical findings is imperative for properly differentiating among USH subtypes. In addition, mutation screening using MPS enables the identification of causative mutations in USH. The clinical diagnosis of this phenotypically variable disease can then be confirmed.

M163 ASYMPTOMATIC T LYMPHOPENIA IN A YOUNG ADULT WITH PTEN GENE MUTATION

2021 ◽  
Vol 127 (5) ◽  
pp. S97
Author(s):  
D. Hamilton ◽  
J. Benipal ◽  
H. Lehman
Keyword(s):  
Young Adult ◽  
Gene Mutation ◽  
Pten Gene

scholarly journals Genetic analysis in the bariatric clinic; impact of a PTEN gene mutation

2019 ◽  
Vol 7 (6) ◽  
Author(s):  
Mellody I. Cooiman ◽  
Lotte Kleinendorst ◽  
Bert Zwaag ◽  
Ignace M. C. Janssen ◽  
Frits J. Berends ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Gene Mutation ◽  
Pten Gene ◽  
Bariatric Clinic

scholarly journals A Correlation between EGFR Gene Mutation Status and Bronchioloalveolar Carcinoma Features in Japanese Patients with Adenocarcinoma

2006 ◽  
Vol 36 (2) ◽  
pp. 69-75 ◽  
Author(s):  
Hiroshi Haneda ◽  
Hidefumi Sasaki ◽  
Neal Lindeman ◽  
Osamu Kawano ◽  
Katsuhiko Endo ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Japanese Patients ◽  
Bronchioloalveolar Carcinoma ◽  
Mutation Status ◽  
Egfr Gene ◽  
Egfr Gene Mutation

scholarly journals Infrequent genetic alterations of the PTEN gene in Japanese patients with sporadic prostate cancer

1998 ◽  
Vol 43 (4) ◽  
pp. 228-230 ◽  
Author(s):  
Kazuhiko Orikasa ◽  
Shin-ichi Fukushige ◽  
Senji Hoshi ◽  
Seiichi Orikasa ◽  
Keiichi Kondo ◽  
...  
Keyword(s):  
Prostate Cancer ◽  
Japanese Patients ◽  
Genetic Alterations ◽  
Pten Gene
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