Somatic mosaicism of the PI3K‐AKT‐MTOR pathway is associated with hemimegalencephaly in fetal brains

Authors: Itoh, Kyoko, Pooh, Ritsuko, Shimokawa, Osamu, Fushiki, Shinji

Source: Neuropathology. 43(2):190-196

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100184359455.0x000001&indx=1&recIds=ETOCvdc_100184359455.0x000001

Implementation of First-Trimester Screening and Prevention of Preeclampsia: A Stepped Wedge Cluster-Randomized Trial in Asia

Authors: Nguyen-Hoang, Long, Dinh, Linh Thuy, Tai, Angela S.T., Nguyen, Duy-Anh, Pooh, Ritsuko K., Shiozaki, Arihiro, Zheng, Mingming, Hu, Yali, Li, Bin, Kusuma, Aditya, Yapan, Piengbulan, Gosavi, Arundhati, Kaneko, Mayumi, Luewan, Suchaya, Chang, Tung-Yao, Chaiyasit, Noppadol, Nanthakomon, Tongta, Liu, Huishu, Shaw, Steven W., Leung, Wing Cheong, Mahdy, Zaleha Abdullah, Aguilar, Angela, Leung, Hillary H.Y., Lee, Nikki M.W., Lau, So Ling, Wah, Isabella Y.M., Lu, Xiaohong, Sahota, Daljit S., Chong, Marc K.C., Poon, Liona C., Wong, Iok Seng, Chen, Yunyu, Liu, Jiao, Lin, Jing, Tse, Ada W. T., Wong, Lo, Liu, Fangzi, Ma, Runmei, Min, Jiang Yan, Choolani, Mahesh A., Wataganara, Tuangsit, Shimokawa, Osamu

Source: Circulation (Ovid); October 2024, Vol. 150 Issue: 16 p1223-1235, 13p

Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndrome.

Authors: Batkovskyte, Dominyka, Komatsu, Maya, Hammarsjö, Anna, Pooh, Ritsuko, Shimokawa, Osamu, Ikegawa, Shiro, Grigelioniene, Giedre, Nishimura, Gen, Yamada, Takahiro

Source: Clinical Genetics; Jan2024, Vol. 105 Issue 1, p87-91, 5p

Subject Terms: GENETIC variation, CILIOPATHY, CONGENITAL disorders, CLEFT palate, CLEFT lip, FETUS

Aortic Dissection and a Previously Unreported ACTA2 Missense Variant Mutation in a Young Patient: A Case Report.

Authors: Marutani, Satoshi, Nishino, Takako, Shimokawa, Osamu, Pooh, Ritsuko K., Morisaki, Hiroko, Inamura, Noburu

Source: Pediatric & Developmental Pathology; Sep2023, Vol. 26 Issue 5, p494-498, 5p

Neoplastic Transformation and Induction of H⁺,K⁺-Adenosine Triphosphatase by N-Methyl-N'-Nitro-N-Nitrosoguanidine in the Gastric Epithelial RGM-1 Cell Line

Authors: Shimokawa, Osamu, Matsui, Hirofumi, Nagano, Yumiko, Kaneko, Tsuyoshi, Shibahara, Takeshi, Nakahara, Akira, Hyodo, Ichinosuke, Yanaka, Akinori, Majima, Hideyuki J., Nakamura, Yukio, Matsuzaki, Yasushi

Source: In Vitro Cellular & Developmental Biology. Animal, 2008 Jan 01. 44(1/2), 26-30.

Access URL: https://www.jstor.org/stable/40205843

Aortic Dissection and a Previously Unreported ACTA2Missense Variant Mutation in a Young Patient: A Case Report

Authors: Marutani, Satoshi, Nishino, Takako, Shimokawa, Osamu, Pooh, Ritsuko K., Morisaki, Hiroko, Inamura, Noburu

Source: Pediatric and Developmental Pathology; September 2023, Vol. 26 Issue: 5 p494-498, 5p

The role of nitric oxide in δ-aminolevulinic acid (ALA)-induced photosensitivity of cancerous cells

Authors: Yamamoto, Fuki, Ohgari, Yoshiko, Yamaki, Nao, Kitajima, Sakihito, Shimokawa, Osamu, Matsui, Hirofumi, Taketani, Shigeru

Source: In Biochemical and Biophysical Research Communications 2007 353(3):541-546

Mechanisms involved in δ-aminolevulinic acid (ALA)-induced photosensitivity of tumor cells: Relation of ferrochelatase and uptake of ALA to the accumulation of protoporphyrin

Authors: Ohgari, Yoshiko, Nakayasu, Yuki, Kitajima, Sakihito, Sawamoto, Mari, Mori, Hajime, Shimokawa, Osamu, Matsui, Hirofumi, Taketani, Shigeru

Source: In Biochemical Pharmacology 2005 71(1):42-49

Identification of a 3.0-kb Major Recombination Hotspot in Patients with Sotos Syndrome Who Carry a Common 1.9-Mb Microdeletion

Authors: Visser, Remco, Shimokawa, Osamu, Harada, Naoki, Kinoshita, Akira, Ohta, Tohru, Niikawa, Norio, Matsumoto, Naomichi

Source: In The American Journal of Human Genetics 2005 76(1):52-67

Genotype-phenotype correlation of 5p- syndrome: pitfall of diagnosis.

Authors: Kondoh, Tatsuro¹ kontatsu@net.nagasaki-u.ac.jp, Shimokawa, Osamu^2,3, Harada, Naoki², Doi, Tomoki¹, Yun, Chyuns¹, Gohda, Yuji¹, Kinoshita, Fumiko¹, Matsumoto, Tadashi⁴, Moriuchi, Hiroyuki¹

Source: Journal of Human Genetics. Jan2005, Vol. 50 Issue 1, p26-29. 4p.

Subject Terms: *GENETIC polymorphisms, *GENOTYPE-environment interaction, *INTELLECTUAL disabilities, *CELL nuclei, *PHENOTYPES, *POPULATION genetics

Serum inhibits penicillin-induced L-form growth in Staphylococcus aureus: a note of caution on the use of serum in cultivation of bacterial L-forms.

Authors: Shimokawa, Osamu, Ikeda, Massashi, Umeda, Akiko

Source: Journal of Bacteriology; May 1994, Vol. 176 Issue 9, p2751-2753, 3p

D-karyo—A New Prenatal Rapid Screening Test Detecting Submicroscopic CNVs and Mosaicism.

Authors: Shimokawa, Osamu¹ (AUTHOR) shimokawa.osamu@ritz-med.com, Takeda, Masayoshi¹ (AUTHOR), Ohashi, Hiroyasu¹ (AUTHOR), Shono-Ota, Akemi¹ (AUTHOR), Kumagai, Mami¹ (AUTHOR), Matsushika, Risa¹ (AUTHOR), Masuda, Chika¹ (AUTHOR), Uenishi, Kohtaro¹ (AUTHOR), Kimata Pooh, Ritsuko¹ (AUTHOR) pooh.ritsuko@ritz-med.com, Van Der Burgt, Ineke (AUTHOR)

Source: Diagnostics (2075-4418). Feb2021, Vol. 11 Issue 2, p337-337. 1p.

Subject Terms: *PRENATAL genetic testing, *MOSAICISM, *FETAL abnormalities, *GENETIC testing, *FETAL ultrasonic imaging

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