A case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with a novel frameshift variant in GATA3, p.W10Cfs40, lacks kidney malformation

by Haruka Kishi, Teruo Jojima, Takahiko Kogai, Toshie Iijima, Eriko Ohira, Dai Tanuma, Sachiyo Konno, Kanako Kato, Atsumi Kezuka, Kazumi Akimoto, Junko Sakumoto, Akira Hishinuma, Takuya Tomaru, Noriko Makita, Isao Usui, Yoshimasa Aso
Published 2020-12-01

EXOC1 plays an integral role in spermatogonia pseudopod elongation and spermatocyte stable syncytium formation in mice

by Yuki Osawa, Kazuya Murata, Miho Usui, Yumeno Kuba, Hoai Thu Le, Natsuki Mikami, Toshinori Nakagawa, Yoko Daitoku, Kanako Kato, Hossam Hassan Shawki, Yoshihisa Ikeda, Akihiro Kuno, Kento Morimoto, Yoko Tanimoto, Tra Thi Huong Dinh, Ken-ichi Yagami, Masatsugu Ema, Shosei Yoshida, Satoru Takahashi, Seiya Mizuno, Fumihiro Sugiyama
Published 2021-05-01

Disruption of entire Cables2 locus leads to embryonic lethality by diminished Rps21 gene expression and enhanced p53 pathway

by Tra Thi Huong Dinh, Hiroyoshi Iseki, Seiya Mizuno, Saori Iijima-Mizuno, Yoko Tanimoto, Yoko Daitoku, Kanako Kato, Yuko Hamada, Ammar Shaker Hamed Hasan, Hayate Suzuki, Kazuya Murata, Masafumi Muratani, Masatsugu Ema, Jun-Dal Kim, Junji Ishida, Akiyoshi Fukamizu, Mitsuyasu Kato, Satoru Takahashi, Ken-ichi Yagami, Valerie Wilson, Ruth M Arkell, Fumihiro Sugiyama
Published 2021-05-01