Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Shinji Saitoh"'
Autor:
Akira Kinoshita, Tatsuya Kishino, Ryoichi Mori, Naoko Asahina, Yutaka Negishi, Hideaki Shiraishi, Kana Hosoki, Koh-ichiro Yoshiura, Masahiro Nakashima, Kiyotaka Tomiwa, Katsuya Matsuda, Shinji Saitoh, Hiroyuki Mishima, Naoko Ishihara, Susumu Tanimura, Kaname Ohyama
Publikováno v:
Development. 148
Mutations in ITPR1 cause ataxia and aniridia in individuals with Gillespie syndrome (GLSP). However, the pathogenic mechanisms underlying aniridia remain unclear. We identified a de novo GLSP mutation hotspot in the 3′-region of ITPR1 in five indiv
Autor:
Tomoko Fuke, Shinji Saitoh, Tsutomu Ogata, Masayo Kagami, Kazuhito Satou, Kenichiro Hata, Keiko Matsubara, Maki Fukami, Kazuhiko Nakabayashi, Nobuyuki Murakami, Kazuki Yamazawa, Kaori Hara-Isono
Publikováno v:
Clinical Epigenetics
Background Imprinting disorders (IDs) show overlapping phenotypes, particularly in Silver–Russell syndrome (SRS), Temple syndrome (TS14), and Prader–Willi syndrome (PWS). These three IDs include fetal and postnatal growth failure, feeding difficu
Autor:
Shinji Saitoh, Ikumi Hori, Yuto Kondo, Aya Yoshida, Hisato Suzuki, Kohei Aoyama, Kenjiro Kosaki, Mari Koroki, Ayako Hattori, Koichi Ito, Kentaro Ueda
Publikováno v:
Human Genome Variation, Vol 7, Iss 1, Pp 1-5 (2020)
Human Genome Variation
Human Genome Variation
We report a patient with developmental delay, extremely short stature, small hands, dysmorphic facial features, hearing loss, and epilepsy carrying a de novo 2.76-Mb deletion of 2q36.3q37.1, including TRIP12 and NPPC. TRIP12 haploinsufficiency causes
Autor:
Keith A. Boroevich, Yutaka Negishi, Naoki Ando, Fuyuki Miya, Kenjiro Kosaki, Shinji Saitoh, Mami Yamasaki, Ikumi Hori, Tatsuhiko Tsunoda, Nobuhiko Okamoto, Mitsuhiro Kato, Ayako Hattori, Yonehiro Kanemura
Publikováno v:
Journal of Human Genetics. 63:957-963
Microcephaly-capillary malformation syndrome is a congenital and neurodevelopmental disorder caused by biallelic mutations in the STAMBP gene. Here we identify the novel homozygous mutation located in the SH3 binding motif of STAMBP (NM_006463.4) (c.
Autor:
Ayako Hattori, Yoshiyuki Takahashi, Kazuhito Satou, Seiji Kojima, Yusuke Okuno, Ikumi Hori, Yuji Nakamura, Daisuke Ieda, Shinji Saitoh, Yutaka Negishi, Hideki Muramatsu, Kei Ohashi, Tomoko Kawai
Publikováno v:
Human Genome Variation
Human Genome Variation, Vol 6, Iss 1, Pp 1-4 (2019)
Human Genome Variation, Vol 6, Iss 1, Pp 1-4 (2019)
Patients with variants in CUL4B exhibit syndromic intellectual disability (MIM #300354). A seven-year-old boy presented with intellectual disability, a history of seizure, characteristic facial features, and short stature. Whole-exome sequencing dete
Autor:
Masafumi Miyata, Shinji Saitoh, Nobuhiko Okamoto, Fuyuki Miya, Setsuri Yokoi, Makiko Tsutsumi, Mami Yamasaki, Tatsuhiko Tsunoda, Hiroki Kurahashi, Yonehiro Kanemura, Kenjiro Kosaki, Mitsuhiro Kato
Publikováno v:
European Journal of Human Genetics. 24:1702-1706
It has been well documented that variants in genes encoding centrosomal proteins cause primary autosomal recessive microcephaly, although the association between centrosomal defects and the etiology of microcephaly syndromes is not fully understood.
Autor:
Ikumi Hori, Setsuko Hasegawa, Yutaka Negishi, Yuji Nakamura, Kei Ohashi, Daisuke Ieda, Ayako Hattori, Shinji Saitoh, Atsuko Arisaka
Publikováno v:
Human Genome Variation
Human Genome Variation, Vol 6, Iss 1, Pp 1-4 (2019)
Human Genome Variation, Vol 6, Iss 1, Pp 1-4 (2019)
A loss of function mutation in SLC9A6 (Xq26.3) is responsible for Christianson syndrome in males. We identified a novel splicing mutation (NM_006359.2:c.1141-8C>A) of SLC9A6 in a seven-year-old boy with microcephaly, severe developmental delay, and i
Autor:
Daisuke Ieda, Tomomi Miyamoto, Makoto Nakanishi, Yutaka Negishi, Kohji Kato, Shinya Ugawa, Hisashi Oishi, Natsuko Kumamoto, Shinji Saitoh, Ichiro Miyoshi, Yoshikazu Johmura
Publikováno v:
PLoS ONE, Vol 15, Iss 8, p e0237814 (2020)
PLoS ONE
PLoS ONE
Schaaf-Yang syndrome (SYS) is a neurodevelopmental disorder caused by truncating variants in the paternal allele of MAGEL2, located in the Prader-Willi critical region, 15q11-q13. Although the phenotypes of SYS overlap those of Prader-Willi syndrome
Autor:
Yuji Nakamura, Naomi Tsuchida, Yoshiyuki Takahashi, Shinji Saitoh, Kohji Kato, Naomichi Matsumoto
Publikováno v:
PLoS ONE
PLoS ONE, Vol 14, Iss 8, p e0221482 (2019)
PLoS ONE, Vol 14, Iss 8, p e0221482 (2019)
There have been increasing number of reports of SZT2-related neurological diseases, the main symptoms of which are epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum. SZT2 functions as a regulator of mechanistic target of ra
Autor:
Hirotomo Saitsu, Yoshinao Wada, Hirofumi Kodera, Noriko Miyake, Yoshinori Tsurusaki, Isao Yuasa, Mitsuko Nakashima, Naomichi Matsumoto, Shinji Saitoh, Naoki Ando
Publikováno v:
Clinical Genetics. 87:455-460
The conserved oligomeric Golgi (COG) complex is involved in intra-Golgi retrograde trafficking, and mutations in six of its eight subunits have been reported in congenital disorders of glycosylation (CDG). Here we report a patient showing severe acqu