Exploring human genetic skeletal disorders provides important insights into skeletogenesis and elucidates basic developmental signaling pathways

by Giedre Grigelioniene, Gen Nishimura
Published 2020-12-01

Pseudoachondroplasia: Report on a South African family

by Shahida Moosa, Gen Nishimura
Published 2013-06-01

Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations

by Manisha Goyal, Seema Kapoor, Shiro Ikegawa, Gen Nishimura
Published 2016-01-01

A Case with Spondyloenchondrodysplasia Treated with Growth Hormone

by Takanori Utsumi, Satoshi Okada, Kazushi Izawa, Yoshitaka Honda, Gen Nishimura, Ryuta Nishikomori, Rika Okano, Masao Kobayashi
Published 2017-07-01

A novel IFITM5 variant associates with phenotype of osteoporosis with calvarial doughnut lesions

by Riikka Mäkitie, Minna Pekkinen, Naoya Morisada, Daisuke Kobayashi, Yoshiro Yonezawa, Gen Nishimura, Shiro Ikegawa, Outi Mäkitie
Published 2021-04-01

Double non-contiguous fractures in a patient with spondylo-epiphyseal dysplasia with spinal ankylosis treated with open and percutaneous spinal fixation technique: a case report

by Takahiro Ushijima, Kenichi Kawaguchi, Tadashi Matsumoto, Masaki Takagi, Tatsuro Kondoh, Gen Nishimura, Aritoshi Iida, Shiro Ikegawa, Nobuhiko Haga, Go Kato
Published 2018-02-01

Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome

by Jong Seop Kim, Hyoungseok Jeon, Hyeran Lee, Jung Min Ko, Yonghwan Kim, Murim Choi, Gen Nishimura, Ok-Hwa Kim, Tae-Joon Cho
Published 2021-05-01

New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report

by Ken-ichi Aoyama, Minoru Kimura, Hiroshi Yamazaki, Masahiro Uchibori, Rena Kojima, Yuko Osawa, Kazuyoshi Hosomichi, Yoshihide Ota, Masayuki Tanaka, Shiro Yamada, Gen Nishimura
Published 2019-07-01

A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta.

by Masaki Takagi, Tomohiro Ishii, Aileen M Barnes, Maryann Weis, Naoko Amano, Mamoru Tanaka, Ryuji Fukuzawa, Gen Nishimura, David R Eyre, Joan C Marini, Tomonobu Hasegawa
Published 2012-01-01

Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling

by Long Guo, Aritoshi Iida, Gandham SriLakshmi Bhavani, Kalpana Gowrishankar, Zheng Wang, Jing-yi Xue, Juan Wang, Noriko Miyake, Naomichi Matsumoto, Takanori Hasegawa, Yusuke Iizuka, Masashi Matsuda, Tomoki Nakashima, Masaki Takechi, Sachiko Iseki, Shinsei Yambe, Gen Nishimura, Haruhiko Koseki, Chisa Shukunami, Katta M. Girisha, Shiro Ikegawa
Published 2021-04-01

Novel RPL13 variants and evidence for incomplete penetrance in a human ribosomopathy with spondyloepimetaphyseal dysplasia

by Alice Costantini, Jessica J. Alm, Francesca Tonelli, Helena Valta, Céline Huber, Anh N. Tran, Valentina Daponte, Nadi Kirova, Yong-Uk Kwon, Jung Yun Bae, Woo Yeong Chung, Shengjiang Tan, Yves Sznajer, Gen Nishimura, Tuomas Näreoja, Alan J. Warren, Valérie Cormier-Daire, Ok-Hwa Kim, Antonella Forlino, Tae-Joon Cho, Outi Mäkitie
Published 2020-10-01

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.

by Zheng Wang, Aritoshi Iida, Noriko Miyake, Koji M Nishiguchi, Kosuke Fujita, Toru Nakazawa, Abdulrahman Alswaid, Mohammed A Albalwi, Ok-Hwa Kim, Tae-Joon Cho, Gye-Yeon Lim, Bertrand Isidor, Albert David, Cecilie F Rustad, Else Merckoll, Jostein Westvik, Eva-Lena Stattin, Giedre Grigelioniene, Ikuyo Kou, Masahiro Nakajima, Hirohumi Ohashi, Sarah Smithson, Naomichi Matsumoto, Gen Nishimura, Shiro Ikegawa
Published 2016-01-01