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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PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review.

Tomomi Yamaguchi Kyoko Takano Yuji Inaba Manami Morikawa Mitsuo Motobayashi Rie Kawamura Keiko Wakui Eriko Nishi Shin-Ichi Hirabayashi Yoshimitsu Fukushima Hiroyuki Kato Jun Takahashi Tomoki Kosho

American journal of medical genetics. Part A 179(6) 948-957 2019年6月

PIEZO2 encodes a mechanically activated cation channel, which is abundantly expressed in dorsal root ganglion neuron and sensory endings of proprioceptors required for light touch sensation and proprioception in mice. Biallelic loss-of-function mu...

Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome.

Masatake Toshimitsu Shinichi Nagaoka Shuusaku Kobori Maki Ogawa Fumihiko Suzuki Takema Kato Shunsuke Miyai Rie Kawamura Hidehito Inagaki Hiroki Kurahashi Jun Murotsuki

Case reports in obstetrics and gynecology 2019 6753184-6753184 2019年 [査読有り]

Background: Fetal akinesia refers to a broad spectrum of disorders with reduced or absent fetal movements. There is no established approach for prenatal diagnosis of the cause of fetal akinesia. Chromosome 1p36 deletion syndrome is the most common...

Peripartum Iliac Arterial Aneurysm and Rupture in a Patient with Vascular Ehlers-Danlos Syndrome Diagnosed by Next-Generation Sequencing.

Norimichi Koitabashi Tomomi Yamaguchi Daisuke Fukui Takahide Nakano Atsushi Umeyama Kazuyoshi Toda Ryuichi Funada Masumi Ishikawa Rie Kawamura Kenji Okada Atsushi Hatamochi Tomoki Kosho Masahiko Kurabayashi

International heart journal 59(5) 1180-1185 2018年9月 [査読有り]

Vascular Ehlers-Danlos syndrome (vEDS), a genetic disorder caused by mutations in procollagen type III gene (COL3A1), may lead to fatal vascular complication during peripartum period because of the arterial fragility. We experienced a case of vEDS...

Clinical courses of children with trisomy 13 receiving intensive neonatal and pediatric treatment.

Eriko Nishi Mizue Takasugi Rie Kawamura Soichi Shibuya Shigeru Takamizawa Takehiko Hiroma Tomohiko Nakamura Tomoki Kosho

American journal of medical genetics. Part A 176(9) 1941-1949 2018年9月 [査読有り]

Management of children with trisomy 13 (T13) is controversial because of a paucity of evidence of the natural history, especially focusing on efficacy of treatment. There has been no report regarding natural history of children with T13 receiving ...

Myelodysplastic syndrome in an infant with constitutional pure duplication 1q41-qter.

Hirokazu Morokawa Motoko Kamiya Keiko Wakui Mikiko Kobayashi Takashi Kurata Kazuyuki Matsuda Rie Kawamura Hiroyuki Kanno Yoshimitsu Fukushima Yozo Nakazawa Tomoki Kosho

Human genome variation 5 6-6 2018年 [査読有り]

We report on a Japanese female infant as the fourth patient with the constitutional pure duplication 1q41-qter confirmed by chromosomal microarray and as the first who developed myelodysplastic syndrome (MDS) among those with the constitutional 1q...