Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Nobue Takaiso"'
Publikováno v:
Human Genome Variation, Vol 11, Iss 1, Pp 1-3 (2024)
Abstract Loss-of-function germline variants of MLH1 cause Lynch syndrome. Here, we present the case of a 43-year-old male patient diagnosed with cecal and transverse colon adenocarcinomas. The characteristics of the case met the revised Bethesda guid
Externí odkaz:
https://doaj.org/article/9692b3475c954048ae15d43b3443f699
Autor:
Nobue Takaiso, Issei Imoto, Akiyo Yoshimura, Akira Ouchi, Koji Komori, Hiroji Iwata, Yasuhiro Shimizu
Publikováno v:
Human Genome Variation, Vol 11, Iss 1, Pp 1-4 (2024)
Abstract Deleterious germline variants in the BRCA1-associated ring domain (BARD1) gene moderately elevate breast cancer risk; however, their potential association with other neoplasms remains unclear. Here, we present the case of a 43-year-old femal
Externí odkaz:
https://doaj.org/article/0271519ac6a14e3db175fe4a94c023d8
Autor:
Nobue Takaiso, Haruki Nishizawa, Sachie Nishiyama, Tomio Sawada, Eriko Hosoba, Tamae Ohye, Tsutomu Sato, Hidehito Inagaki, Hiroki Kurahashi
Publikováno v:
Fujita Medical Journal, Vol 2, Iss 3, Pp 59-61 (2016)
The genetic etiology of female infertility is almost completely unknown. Recently, the egg membrane protein JUNO was identified as a receptor of the sperm-specific protein IZUMO1 and their interaction functions in sperm-egg fusion in fertilization. I
Externí odkaz:
https://doaj.org/article/3e150cb0c864468cb37e58890e11e9c9
Publikováno v:
Gan to kagaku ryoho. Cancerchemotherapy. 48(1)
In June 2019, 2 comprehensive cancer genome profiling(CGP)tests were approved with reimbursement, and are now available at designated hospitals stratified to 3 layers on the basis of their roles. The reimbursement-approved CGP tests were restricted t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d55ed8811e6b946f6d74a5970ca5393d
https://pubmed.ncbi.nlm.nih.gov/33468714
https://pubmed.ncbi.nlm.nih.gov/33468714
Autor:
Hiroji Iwata, Shiro Yokoyama, Tadashi Nomizu, Seigo Nakamura, Nobue Takaiso, Akiyo Yoshimura, Masami Arai
Publikováno v:
Journal of human genetics. 66(4)
This study aimed to clarify the breast cancer prognosis in Japanese patients with BRCA1/2 pathogenic variant. We analyzed 2235 women with breast cancer who underwent BRCA1/2 genetic testing between 1996 and 2018 using data from the Japanese hereditar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa98dd6bfcd21dcdd7c5bb73dab31bdb
https://pubmed.ncbi.nlm.nih.gov/33037391
https://pubmed.ncbi.nlm.nih.gov/33037391
Autor:
Makiko Mori, Yayoi Adachi, Masataka Sawaki, Seiko Okumura, Haruru Kotani, Ikuo Hyodo, Kayoko Sugino, Nanae Horisawa, Madoka Iwase, Masaya Hattori, Sakura Onishi, Mitsuo Terada, Nobue Takaiso, Ayumi Kataoka, Junko Ishiguro, Hiroji Iwata, Naomi Gondo, Akiyo Yoshimura
Publikováno v:
Breast Cancer. 25:539-546
Contralateral risk-reducing mastectomy (CRRM) for breast cancer patients with BRCA mutations has been reported to not only reduce breast cancer incidence but also to improve survival. The National Comprehensive Cancer Network guidelines recommend pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3eedd7170905b95d46593fdc61cc73e0
https://doi.org/10.1007/s12282-018-0850-z
https://doi.org/10.1007/s12282-018-0850-z
Autor:
Yuri Funamoto, Arisa Nagatani, Hidetoshi Uchida, Asami Kuno, Tetsushi Yoshikawa, Yuya Ouchi, Masafumi Miyata, Hiroki Kurahashi, Tadayoshi Hata, Hidehito Inagaki, Hiroko Boda, Nobue Takaiso, Naoko Fujita
Publikováno v:
Journal of Human Genetics. 61:701-703
Hypertension and brachydactyly syndrome (HTNB) with short stature is an autosomal-dominant disorder. Mutations in the PDE3A gene located at 12p12.2-p11.2 were recently identified in HTNB families. We found a novel heterozygous missense mutation c.133
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0efaa59e102e1278baa605e8737020aa
https://doi.org/10.1038/jhg.2016.32
https://doi.org/10.1038/jhg.2016.32