Search Results - "TSURUSAKI, Y"

Coffin-Siris syndrome is a SWI/SNF complex disorder by Tsurusaki, Y., Okamoto, N., Ohashi, H., Mizuno, S., Matsumoto, N., Makita, Y., Fukuda, M., Isidor, B., Perrier, J., Aggarwal, S., Dalal, A.B., Al-Kindy, A., Liebelt, J., Mowat, D., Nakashima, M., Saitsu, H., Miyake, N., Matsumoto, N.

“…Coffin–Siris syndrome (CSS) is a congenital disorder characterized by intellectual disability, growth deficiency, microcephaly, coarse facial features, and…”
Get full text

Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease by MIYATAKE, S, MIYAKE, N, SHIMOJIMA, K, YAMAMOTO, T, HIGURASHI, M, KAWAHARA, N, KAWAUCHI, H, NAGASAKA, K, OKAMOTO, N, MORI, T, KOYANO, S, KUROIWA, Y, TOUHO, H, TAGURI, M, MORITA, S, MATSUBARA, Y, KURE, S, MATSUMOTO, N, NISHIMURA-TADAKI, A, KONDO, Y, OKADA, I, TSURUSAKI, Y, DOI, H, SAKAI, H, SAITSU, H

“…RNF213 was recently reported as a susceptibility gene for moyamoya disease (MMD). Our aim was to clarify the correlation between the RNF213 genotype and MMD…”
Get full text

Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation by Kodera, H., Ando, N., Yuasa, I., Wada, Y., Tsurusaki, Y., Nakashima, M., Miyake, N., Saitoh, S., Matsumoto, N., Saitsu, H.

“…The conserved oligomeric Golgi (COG) complex is involved in intra‐Golgi retrograde trafficking, and mutations in six of its eight subunits have been reported…”
Get full text

Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations by Miyake, N., Tsurusaki, Y., Koshimizu, E., Okamoto, N., Kosho, T., Brown, N.J., Tan, T.Y., Yap, P.J.J., Suzumura, H., Tanaka, T., Nagai, T., Nakashima, M., Saitsu, H., Niikawa, N., Matsumoto, N.

“…Wiedemann–Steiner syndrome (WSS) is an autosomal dominant congenital anomaly syndrome characterized by hairy elbows, dysmorphic facial appearances…”
Get full text

De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy by Nakajima, J., Okamoto, N., Tohyama, J., Kato, M., Arai, H., Funahashi, O., Tsurusaki, Y., Nakashima, M., Kawashima, H., Saitsu, H., Matsumoto, N., Miyake, N.

“…Eukaryotic elongation factor 1, alpha‐2 (eEF1A2) protein is involved in protein synthesis, suppression of apoptosis, and regulation of actin function and…”
Get full text

Molecular genetic analysis of 30 families with Joubert syndrome by Suzuki, T., Miyake, N., Tsurusaki, Y., Okamoto, N., Alkindy, A., Inaba, A., Sato, M., Ito, S., Muramatsu, K., Kimura, S., Ieda, D., Saitoh, S., Hiyane, M., Suzumura, H., Yagyu, K., Shiraishi, H., Nakajima, M., Fueki, N., Habata, Y., Ueda, Y., Komatsu, Y., Yan, K., Shimoda, K., Shitara, Y., Mizuno, S., Ichinomiya, K., Sameshima, K., Tsuyusaki, Y., Kurosawa, K., Sakai, Y., Haginoya, K., Kobayashi, Y., Yoshizawa, C., Hisano, M., Nakashima, M., Saitsu, H., Takeda, S., Matsumoto, N.

“…Joubert syndrome (JS) is rare recessive disorders characterized by the combination of hypoplasia/aplasia of the cerebellar vermis, thickened and elongated…”
Get full text

Rapid diagnostic testing of a neonate in a family with hypertrophic cardiomyopathy by H. Ueda, T. Miyamoto, Y. Tsurusaki, G. Minase, N. Matsumoto, K. Sengoku

“…Familial hypertrophic cardiomyopathy (HCM) is a common but severe genetic disease. A pregnant woman with familial HCM was referred to our hospital as both the…”
Get full text

Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy by Miyatake, S., Tada, H., Moriya, S., Takanashi, J., Hirano, Y., Hayashi, M., Oya, Y., Nakashima, M., Tsurusaki, Y., Miyake, N., Matsumoto, N., Saitsu, H.

Get full text

Paternal mosaicism of an STXBP1 mutation in OS by Saitsu, H, Hoshino, H, Kato, M, Nishiyama, K, Okada, I, Yoneda, Y, Tsurusaki, Y, Doi, H, Miyake, N, Kubota, M, Hayasaka, K, Matsumoto, N

“…Saitsu H, Hoshino H, Kato M, Nishiyama K, Okada I, Yoneda Y, Tsurusaki Y, Doi H, Miyake N, Kubota M, Hayasaka K, Matsumoto N. Paternal mosaicism of an STXBP1…”
Get full text

AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH by Nakamura, K., Kato, M., Tohyama, J., Shiohama, T., Hayasaka, K., Nishiyama, K., Kodera, H., Nakashima, M., Tsurusaki, Y., Miyake, N., Matsumoto, N., Saitsu, H.

Get full text

Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss by Tsurusaki, Y., Yonezawa, R., Furuya, M., Nishimura, G., Pooh, R.K., Nakashima, M., Saitsu, H., Miyake, N., Saito, S., Matsumoto, N.

Get full text

Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing by Tsurusaki, Yoshinori, Osaka, Hitoshi, Hamanoue, Haruka, Shimbo, Hiroko, Tsuji, Megumi, Doi, Hiroshi, Saitsu, Hirotomo, Matsumoto, Naomichi, Miyake, Noriko

“…Conventional PCR-based direct sequencing of candidate genes for a family with X-linked leucoencephalopathy with unknown aetiology failed to identify any…”
Get more information

Different X-linked KDM5C mutations in affected male siblings: is maternal reversion error involved? by Fujita, A., Waga, C., Hachiya, Y., Kurihara, E., Kumada, S., Takeshita, E., Nakagawa, E., Inoue, K., Miyatake, S., Tsurusaki, Y., Nakashima, M., Saitsu, H., Goto, Y.-i., Miyake, N., Matsumoto, N.

“…Genetic reversion is the phenomenon of spontaneous gene correction by which gene function is partially or completely rescued. However, it is unknown whether…”
Get full text

Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients by Tsurusaki, Y, Kosho, T, Hatasaki, K, Narumi, Y, Wakui, K, Fukushima, Y, Doi, H, Saitsu, H, Miyake, N, Matsumoto, N

“…Tsurusaki Y, Kosho T, Hatasaki K, Narumi Y, Wakui K, Fukushima Y, Doi H, Saitsu H, Miyake N, Matsumoto N. Exome sequencing in a family with an X‐linked lethal…”
Get full text

A novel homozygous mutation of DARS2 may cause a severe LBSL variant by Miyake, N, Yamashita, S, Kurosawa, K, Miyatake, S, Tsurusaki, Y, Doi, H, Saitsu, H, Matsumoto, N

Get full text

Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome by Saitsu, H, Kato, M, Shimono, M, Senju, A, Tanabe, S, Kimura, T, Nishiyama, K, Yoneda, Y, Kondo, Y, Tsurusaki, Y, Doi, H, Miyake, N, Hayasaka, K, Matsumoto, N

Get full text

Exome sequencing of two patients in a family with atypical X-linked leukodystrophy by Tsurusaki, Y, Okamoto, N, Suzuki, Y, Doi, H, Saitsu, H, Miyake, N, Matsumoto, N

“…Tsurusaki Y, Okamoto N, Suzuki Y, Doi H, Saitsu H, Miyake N, Matsumoto N. Exome sequencing of two patients in a family with atypical X‐linked leukodystrophy…”
Get full text

Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa by Tadaki, H., Saitsu, H., Kanegane, H., Miyake, N., Imagawa, T., Kikuchi, M., Hara, R., Kaneko, U., Kishi, T., Miyamae, T., Nishimura, A., Doi, H., Tsurusaki, Y., Sakai, H., Yokota, S., Matsumoto, N.

“…Summary Systemic juvenile idiopathic arthritis (s‐JIA) is a rare inflammatory disease classified as a subtype of chronic childhood arthritis, manifested by…”
Get full text

The role of N-acetyl-methioninate as a new stabilizer for albumin products by Anraku, Makoto, Kouno, Yousuke, Kai, Toshiya, Tsurusaki, Yasufumi, Yamasaki, Keishi, Otagiri, Masaki

“…Sodium octanoate (Oct) and N-acetyl- l-tryptophanate ( N-AcTrp) are widely used as stabilizers during the pasteurization of albumin products. However, N-AcTrp…”
Get full text

Translocation of regucalcin to rat liver nucleus: involvement of nuclear protein kinase and protein phosphatase regulation by Tsurusaki, Y, Misawa, H, Yamaguchi, M

“…The translocation of regucalcin to the nuclei of normal rat liver was investigated. The existence of endogenous regucalcin in isolated liver nuclei was…”
Get more information