研究者氏名	河村理恵
	カワムラリエ
URL
所属	藤田医科大学
部署	総合医科学研究所
職名	助教
学位	博士（医学）(信州大学)
J-Global ID	201801002842051860

プロフィール

染色体異常の発生メカニズムを研究しています

研究キーワード

染色体転座 ,FISH ,核内配置 ,染色体異常

研究分野

ライフサイエンス / 遺伝学 /

経歴

2018年4月

現在

藤田医科大学総合医科学研究所分子遺伝学研究部門助教

2014年4月

2018年3月

信州大学医学部医学科遺伝医学・予防医学講座助教

委員歴

2021年

現在

日本遺伝カウンセリング学会評議員

2018年

現在

日本遺伝カウンセリング学会編集委員

受賞

2015年

10th European Cytogenetics Conference, ポスター賞
Rie Kawamura, Wakaba Iha, Yoshimitsu Fukushima, Keiko Wakui

2012年

European Human Genetics Conference 2012, Young Investigator Award Finalist
Rie Kawamura, Hideyuki Tanabe, Takahito Wada, Shinji Saitoh, Yoshimitsu Fukushima, Keiko Wakui

2011年

第35回日本遺伝カウンセリング学会学術集会, 若手奨励賞
河村理恵, 櫻井晃洋,福嶋義光

論文

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CTCF deletion syndrome: clinical features and epigenetic delineation.

Ikumi Hori Rie Kawamura Kazuhiko Nakabayashi Hidetaka Watanabe Ken Higashimoto Junko Tomikawa Daisuke Ieda Kei Ohashi Yutaka Negishi Ayako Hattori Yoshitsugu Sugio Keiko Wakui Kenichiro Hata Hidenobu Soejima Kenji Kurosawa Shinji Saitoh

Journal of medical genetics 54(12) 836-842 2017年12月 [査読有り]

BACKGROUND: Heterozygous mutations in CTCF have been reported in patients with distinct clinical features including intellectual disability. However, the precise pathomechanism underlying the phenotype remains to be uncovered, partly because of th...

Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration.

Kyoko Takano Kazuya Goto Mitsuo Motobayashi Keiko Wakui Rie Kawamura Tomomi Yamaguchi Yoshimitsu Fukushima Tomoki Kosho

European journal of medical genetics 60(10) 521-526 2017年10月 [査読有り]

Mutations in WDR45 are responsible for beta-propeller protein-associated neurodegeneration (BPAN), which is an X-linked form of neurodegeneration with brain iron accumulation. BPAN mainly affects females and is characterized by seizures and develo...

Visualization of the spatial positioning of the SNRPN, UBE3A, and GABRB3 genes in the normal human nucleus by three-color 3D fluorescence in situ hybridization.

Rie Kawamura Hideyuki Tanabe Takahito Wada Shinji Saitoh Yoshimitsu Fukushima Keiko Wakui

Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 20(6) 659-72 2012年8月 [査読有り]

The three-dimensional (3D) structure of the genome is organized non-randomly and plays a role in genomic function via epigenetic mechanisms in the eukaryotic nucleus. Here, we analyzed the spatial positioning of three target regions; the SNRPN, UB...

Genital abnormalities in Pallister-Hall syndrome: Report of two patients and review of the literature.

Yoko Narumi Tomoki Kosho Goro Tsuruta Masaaki Shiohara Ei Shimazaki Tetsuo Mori Ayako Shimizu Yasuhiko Igawa Shuji Nishizawa Kimiyo Takagi Rie Kawamura Keiko Wakui Yoshimitsu Fukushima

American journal of medical genetics. Part A 152A(12) 3143-7 2010年12月

We describe two patients with Pallister-Hall syndrome (PHS) with genital abnormalities: a female with hydrometrocolpos secondary to vaginal atresia and a male with micropenis, hypoplastic scrotum, and bilateral cryptorchidism. Nonsense mutations i...

Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.

Noriko Miyake Tomoki Kosho Shuji Mizumoto Tatsuya Furuichi Atsushi Hatamochi Yoji Nagashima Eiichi Arai Kazuo Takahashi Rie Kawamura Keiko Wakui Jun Takahashi Hiroyuki Kato Hiroshi Yasui Tadao Ishida Hirofumi Ohashi Gen Nishimura Masaaki Shiina Hirotomo Saitsu Yoshinori Tsurusaki Hiroshi Doi Yoshimitsu Fukushima Shiro Ikegawa Shuhei Yamada Kazuyuki Sugahara Naomichi Matsumoto

Human mutation 31(8) 966-74 2010年8月

Ehlers-Danlos syndrome (EDS) is a heterogeneous connective tissue disorder involving skin and joint laxity and tissue fragility. A new type of EDS, similar to kyphoscoliosis type but without lysyl hydroxylase deficiency, has been investigated. We ...