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151. GOUT AND NUCLEIC ACID METABOLISM

Author

Osawa, Hikota, primary, Taniguchi, Atsuo, additional, Kaneko, Hirotaka, additional, Sekita, Chieko, additional, Ichikawa, Naomi, additional, Saito, Kayoko, additional, Seto, Yohei, additional, Toyono, Miyuki, additional, Yamada, Yasukazu, additional, and Yamanaka, Hisashi, additional

Published
2016
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152. ジストロフィン遺伝子部分欠失を示すDMD/BMD患者における骨格筋のジストロフィンmRNAの分析

Author

DU, Juan, SAITO, Kayoko, IKEYA, Kiyoko, KATO, Hidehito, and OSAWA, Makiko

Abstract

Duchenne型(DMD)およびBecker型(BMD)筋ジストロフィー患者におけるジストロフィン遺伝子部分欠失がmRNAレベルではどのようになっているのかを明らかにするため、RT-PCRを用いて,欠失を示すDMD11例およびBMD6例について骨格筋のジストロフィンmRNAの分析を行つた.さらに,DMD3例とBMD5例について,semi-nestedPCRによりジストロフィンmRNAを定量した.コントロールに比較して,DMD/BMD患者のジストロフィンmRNAはいずれも有意に減少していたが(p, In order to elucidate the effects of dystrophin gene deletions on the mRNA levels in the Duchenne and Becker muscular dystrophy, we analyzed human muscle dystrophin mRNA from eleven Duchenne muscular dystrophy (DMD) and six Becker muscular dystrophy (BMD) patients, with internal deletions of the dystrophin gene, using RT-PCR. We also quantified the resultant transcripts by means of semi-nested PCR to estimate the dystrophin mRNA in four BMD and three DMD cases. We found that the quantities of muscle dystrophin mRNA were drastically decreased in DMD and BMD patients as compared with in control subjects (p < 0.05), but that there was no significant difference between DMD and BMD. In each case, three regions of the DMD gene (the deletion-containing region, and the upstream and downstream regions) were amplified, and we focused on the deletion boundary regions by sequencing the PCR products. Truncated transcripts were found in 16 cases, while in the remaining case (DMD), no RT-PCR product was amplified for either muscle or lymphocytes, and thus transcription was assumed to be disturbed. We detected a difference between the muscle mRNA and lymphocyte DNA deletions in a patient who died of a rhabdomyosarcoma. In this case, there was an apparent deletion of exon 48 in the lymphocyte DNA, while only 15 by of the 3' region of exon 48 was deleted from the muscle mRNA. This raises the possibility that DNA diagnosis can miss a deletion. Another DMD case showed two distinct deletion patterns in muscle versus lymphocyte mRNA due to somatic mosaicism. Thus, it is important to analyze mRNA to clarify the molecular mechanisms of DMD/BMD.

Published
1998

153. 小児期の近位型脊髄性筋萎縮症の臨床像と分子遺伝学的診断

Author

SHIRAIWA, Yumi, SAITO, Kayoko, OSAWA, Makiko, FUKUYAMA, Yukio, IKEDA, Joh-E, KUMAGAI, Toshiyuki, and KOIDE, Hiroyoshi

Abstract

脊髄性筋萎縮症(SMA)は脊髄の前角細胞の変性,脱落により,筋萎縮や筋力低下を呈する常染色体性劣性の遺伝病である.本疾患は発症年齢,最高到達運動能力,経過により3つの型に分類される.分子遺伝学的には,1990年に3型ともに5q13に存在することが証明され,さらに1995年SMAの候補遺伝子としてSMN(survival motor neuron)遺伝子とNAIP(neuronal apoptosis inhibitory protein)遺伝子が報告された.本研究ではSMA患者を臨床的に分類し,SMN遺伝子,NAIP遺伝子について解析した.また,臨床型と遺伝子学的解析結果の関係を検討した.対象はSMA患者39名と精神遅滞,心肥大を各々伴つたatypical SMA2名である.1990年のInternational SMA Collaboration Workshop Reportの臨床型分類をもとに39名を分類した.この分類における発症年齢,最高到達運動能力,経過の3つの基準のすべてを満たし,臨床型に分類できたのは39例中20例であった.発症年齢,運動能力,経過のそれぞれについて分類した結果,発症年齢,経過では幅拡い臨床像を示し,臨床的に分類するのには最高到達運動能力および経過が有用であった.また,遺伝子解析の結果,全体の85%(33/39:I型90%,II型100%,III型54%)においてSMN遺伝子のexon 7のみ,またはexon 7および8のホモ接合性の欠失を認めた.また,I型の2名(5% 2/39)においてSMN遺伝子の欠失と同時にNAIP遺伝子のexon 5および欠失が認められた.両遺伝子の認められた2例ともに1型の重症例であったが,その他のSMN遺伝子のみの欠失した症例は臨床症状にかなりの幅が認めれていた.いずれの欠失も認められなかつた7例のうち5例は皿型であった.以上より臨床的重症度と遺伝子の欠失サイズの相関が示唆された.atypical SMAのうち1例にSMN遺伝子の欠失が認められた.また,精神遅滞をともなつた1例は欠失が認められず,異なる疾患の可能性も考えられた., Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by degenration of anterior horn cells in the spinal cord, leading to symmetrical proximal muscle weakness and atrophy. Affected individuals are classified into three types depending on the onset age, highest motor functional ability and clinical course. In 1990, the gene for SMA was mapped to chromosome region 5g13 for all three types of SMA. In 1995, the SMN (survival motor neuron) and NAIP (neuronal apoptosis inhibitory protein) genes were reported as candidate genes for SMA. In this study, we analyzed clinical features of SMA patients and deletions of these two candidate genes. The subjects included 39 SMA patients and two atypical SMA cases, one with mental retardation and the other with cardiomegaly. We classified 39 SMA cases based on the classification devised by the International SMA Consortium Meeting Report. Twenty cases satisfied all three criteria of this classification, and could clearly be classified as one of the three types. Our results of classifying cases according to each criterion suggested that clinical features of SMA constitute a broad spectrum encompassing the three types. Thus, it is most useful to classify patients according to their highest motor functional ability. Thirty-three cases of typical SMA (85% of all, 90% of type I, 100% of type II and 54% of type III) showed deletions of exons 7 and 8 or only exon 7 of the SMN gene. Two of type I (5% of all) showed deletions of exon 5 and 6 of the NAIP gene with deletions of the SMA genes. The other cases (2 of type I and 5 of type III) had no deletions of these genes. Involvement of the SMN and NAIP genes appears to be related to the severity of SMA. The one atypical case showed deletion of the SMN gene. The other one with mental retardation may be heterogeneous.

Published
1998

154. Association of HLA-A*31:01 Screening With the Incidence of Carbamazepine-Induced Cutaneous Adverse Reactions in a Japanese Population.

Author

Mushiroda, Taisei, Takahashi, Yukitoshi, Onuma, Teiichi, Yamamoto, Yoshiaki, Kamei, Tetsumasa, Hoshida, Tohru, Takeuchi, Katsuya, Otsuka, Kotaro, Okazaki, Mitsutoshi, Watanabe, Masako, Kanemoto, Kosuke, Oshima, Tomohiro, Watanabe, Atsushi, Minami, Shiro, Saito, Kayoko, Tanii, Hisashi, Shimo, Yasushi, Hara, Minoru, Saitoh, Shinji, and Kinoshita, Toshihiko

Published
2018
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155. 知能正常で頭部CT上白質の瀰漫性低吸収域を示す先天性筋ジストロフィーの日本人小児例 : 16年間経過を追った症例について

Author

OSAWA, Makiko, KONDO, Eri, SUZUKI, Haruko, HIRAYAMA, Yoshito, HARADA, Junko, SUZUKI, Noriko, SAITO, Kayoko, FUKUYAMA, Yukio, and ISHIHARA, Tadayuki

Abstract

先天性筋ジストロフィー(CMD)という語は,生下時または生後数ヵ月以内に筋力低下を示し,筋生検ではジストロフィー変化を示す乳児に対し広く用いられてきた.本邦では知能障害を伴う福山型CMDが知られ症例も多い.欧米例は,一般に知能障害は伴わず,筋症状だけを示すと考えられてきた.Nogenが知能は正常であるがCT上白質の瀰漫性の低吸収域を呈するCMD例を報告し,続いて同様の症例が報告され,知能障害は伴わないが中枢神経系に異常のあるCMDの存在が注目を浴びるようになった.1994年にこれらと臨床像が一致する例でメロシンの欠損が認められ,遺伝子座は6q2に存在することが判明した.我々は,生下時より著明な筋力低下を呈し,知能正常,瀰漫性白質低吸収域を呈するCMD例を経験し1981年CMDII型として報告した.さらに,知能正常,生後まもなく筋力低下を示し,筋生検ではジストロフィー変化を呈する同様な例を3例経験した.いずれも生後3ヵ月以前に発症し,定頚が7ヵ月以降と遅れていた.しかしながら,1例を除き坐位保持は1歳未満で獲得しており,いざり這いも可能となった.仮性肥大を認めず,顔筋罹患は軽度に止まり,年長時には顔が細長く見える.1例は, 22歳まで経過観察したが,4歳時および19歳時の頭部CTではいずれも瀰漫性白質低吸収域を認め,両所見に差は認めなかった.最高運動機能はいざり這いで,2歳6ヵ月より11歳まで可能であった.同様の本邦報告例は散見されるが,16年間という長期経過を観察可能であった例は他になく,本邦および欧米例の文献展望を加え,本症の位置付け,分類上の今後の問題点などを検討報告した., A 22y7m old male with non-Fukuyama type congenital muscular dystrophy (non-FCMD), suffering from profound muscle weakness, pes equinovarus since early infancy, with entirely normal mentality despite diffuse white matter hyperlucency on computed tomography without ventricular dilatation, who had been examined at four and 20 years of age with essentially no change during the 16 year interval, is reported. Congenital muscular dystrophy was diagnosed at 8m based on an elevated serum creatine kinase (CK) value and the results of electromyography and muscle biopsy. He never became ambulant but did attain head control, the ability to maintain a sitting posture and sliding on his buttocks. Maximum motor ability was maintained until age 11y. Involvement of the facial musculature and multiple joint contractures developed. He experienced convulsions induced by a fever. Leukocyte lysosomal enzymes were all within normal limits. Cerebrospinal fluid was negative for demyelinating antibodies. Motor nerve conduction velocities examined at 4y2m were within normal limits. Genetic analysis of the FCMD gene locus revealed the patient to have the same haplotype, in terms of the centromere side of mfd220, as one of his healthy elder brothers with normal CK values. In addition, we have reviewed the literature on non-FCMD with similar findings and present two other similar cases in our experience.

Published
1996

156. Association between SLCO1B1rs4149056 and Tegafur–Uracil-Induced Hepatic Dysfunction in Breast Cancer

Author

Kamio, Hidenori, Uchiyama, Toshitaka, Kanno, Hitoshi, Onoe, Yoshiko, Saito, Kayoko, Kameoka, Shingo, Kamio, Takako, and Okamoto, Takahiro

Abstract

Aim:The aim of this study was to identify pharmacogenomic biomarkers to predict tegafur–uracil (UFT)-induced liver dysfunction. Patients & methods: A total of 68 patients, who were administered UFT, were evaluated using a two-step pharmacogenomics analysis. Results:The first screening revealed the association between five SNPs and UFT-induced hepatic dysfunction. In the second step, SLCO1B1(rs4149056) was found to be the only SNP associated with UFT treatment-related elevation of aspartate aminotransferase (odds ratio: C/C vs T/T = 7.8, C/T vs T/T = 5.7; p = 0.037) and alanine transaminase (odds ratio: C/C vs T/T = 12.2, C/T vs T/T = 4.1; p = 0.034) levels. Conclusion: The SLCO1B1polymorphisms are possible predictors of UFT treatment-related hepatic dysfunction.

Published
2019
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158. Two Japanese Patients With SMA Type 1 Suggest that Axonal-SMN May Not Modify the Disease Severity

Author

Yamada, Hiroyuki, primary, Nishida, Yoshinobu, additional, Maihara, Toshiro, additional, Sa'adah, Nihayatus, additional, Harahap, Nur Imma Fatimah, additional, Nurputra, Dian Kesumapramudya, additional, Ar Rochmah, Mawaddah, additional, Nishimura, Noriyuki, additional, Saito, Toshio, additional, Kubo, Yuji, additional, Saito, Kayoko, additional, and Nishio, Hisahide, additional

Published
2015
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160. A Rapid, Accurate and Simple Screening Method for Spinal Muscular Atrophy: High-Resolution Melting Analysis Using Dried Blood Spots on Filter Paper

Author

Saadah, Nihayatus, primary, Harahap, Nur, additional, Nurputra, Dian, additional, Rochmah, Mawaddah, additional, Morikawa, Satoru, additional, Nishimura, Noriyuki, additional, Sadewa, Ahmad, additional, Astuti, Indwiani, additional, Haryana, Sofia, additional, Saito, Toshio, additional, Saito, Kayoko, additional, and Nishio, Hisahide, additional

Published
2015
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162. Clinical, biochemical and molecular analysis of 13 Japanese patients with beta-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation

Author

Nakajima, Yoko, Meijer, Judith, Dobritzsch, Doreen, Ito, Tetsuya, Meinsma, Rutger, Abeling, Nico G. G. M., Roelofsen, Jeroen, Zoetekouw, Lida, Watanabe, Yoriko, Tashiro, Kyoko, Lee, Tomoko, Takeshima, Yasuhiro, Mitsubuchi, Hiroshi, Yoneyama, Akira, Ohta, Kazuhide, Eto, Kaoru, Saito, Kayoko, Kuhara, Tomiko, van Kuilenburg, Andre B. P., Nakajima, Yoko, Meijer, Judith, Dobritzsch, Doreen, Ito, Tetsuya, Meinsma, Rutger, Abeling, Nico G. G. M., Roelofsen, Jeroen, Zoetekouw, Lida, Watanabe, Yoriko, Tashiro, Kyoko, Lee, Tomoko, Takeshima, Yasuhiro, Mitsubuchi, Hiroshi, Yoneyama, Akira, Ohta, Kazuhide, Eto, Kaoru, Saito, Kayoko, Kuhara, Tomiko, and van Kuilenburg, Andre B. P.

Abstract

beta-ureidopropionase (beta UP) deficiency is an autosomal recessive disease characterized by N-carbamyl-beta-amino aciduria. To date, only 16 genetically confirmed patients with beta UP deficiency have been reported. Here, we report on the clinical, biochemical and molecular findings of 13 Japanese beta UP deficient patients. In this group of patients, three novel missense mutations (p.G31S, p.E271K, and p.I286T) and a recently described mutation (p.R326Q) were identified. The p.R326Q mutation was detected in all 13 patients with eight patients being homozygous for this mutation. Screening for the p.R326Q mutation in 110 Japanese individuals showed an allele frequency of 0.9 %. Transient expression of mutant beta UP enzymes in HEK293 cells showed that the p.E271K and p.R326Q mutations cause profound decreases in activity (a parts per thousand currency sign 1.3 %). Conversely, beta UP enzymes containing the p.G31S and p.I286T mutations possess residual activities of 50 and 70 %, respectively, suggesting we cannot exclude the presence of additional mutations in the non-coding region of the UPB1 gene. Analysis of a human beta UP homology model revealed that the effects of the mutations (p.G31S, p.E271K, and p.R326Q) on enzyme activity are most likely linked to improper oligomer assembly. Highly variable phenotypes ranging from neurological involvement (including convulsions and autism) to asymptomatic, were observed in diagnosed patients. High prevalence of p.R326Q in the normal Japanese population indicates that beta UP deficiency is not as rare as generally considered and screening for beta UP deficiency should be included in diagnosis of patients with unexplained neurological abnormalities., Corrections in: Journal of Inherited Metabolic Disease, 2014 vol. 37, issue 6, page 1023. DOI: 10.1007/s10545-014-9754-z

Published
2014
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163. A Study of valproic acid for patients with spinal muscular atrophy

Author

Saito, Toshio, primary, Nurputra, Dian K, additional, Harahap, Nur Imma F, additional, Harahap, Indra Sari K, additional, Yamamoto, Hiroshi, additional, Muneshige, Emi, additional, Nishizono, Hiroaki, additional, Matsumura, Tsuyoshi, additional, Fujimura, Harutoshi, additional, Sakoda, Saburo, additional, Saito, Kayoko, additional, and Nishio, Hisahide, additional

Published
2014
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165. Cardiac involvement in Fukuyama-type congenital muscular dystrophy

Author

Nakanishi, Toshio, Sakauchi, Masako, Kaneda, Yoshio, Tomimatsu, Hirofumi, Saito, Kayoko, Nakazawa, Makoto, and Osawa, Makiko

Abstract

BACKGROUND. Fukuyama-type congenital muscular dystrophy is an autosomal recessive disorder characterized by generalized skeletal muscle weakness and hypotonia from early infancy and by mental retardation. Little is known about cardiac involvement in patients with Fukuyama-type congenital muscular dystrophy. This study evaluated whether cardiac involvement exists in patients with Fukuyama-type congenital muscular dystrophy. METHODS AND RESULTS. We evaluated left ventricular function using M-mode and Doppler echocardiography in 34 patients with Fukuyama-type congenital muscular dystrophy. The age ranged from 6 months to 30 years (median: 6 years). A total of 64 recordings were analyzed. Left ventricular dimensions and parameters of systolic function measured included left ventricular end-diastolic dimension, left ventricular fractional shortening, left ventricular wall thickness, and the mean velocity of circumferential fiber shortening and end-systolic wall stress relationship. Left ventricular end-diastolic dimension z score >2 was observed in 2 patients (6%). Left ventricular fractional shortening 15 years of age, 10 (83%) showed decreased left ventricular systolic function. Left ventricular fractional shortening was normal in most patients 15 years of age. Five patients died of heart failure or respiratory problems, and a histologic examination confirmed the presence of myocardial fibrosis. No patients showed increased left ventricular wall thickness or a conduction abnormality on electrocardiograms. CONCLUSION. Cardiac involvement exists in patients with Fukuyama-type congenital muscular dystrophy and becomes evident in older children in the second decade. A cardiac evaluation, including echocardiograms and subsequent follow-up, is important, especially in patients >10 years of age. KEYWORDS. muscles, heart failure, echocardiography, cardiomyopathy., URL: [...]

Published
2006

170. Deep-intronic variant of fukutinis the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan

Author

Kobayashi, Kazuhiro, Kato, Reiko, Kondo-Iida, Eri, Taniguchi-Ikeda, Mariko, Osawa, Makiko, Saito, Kayoko, and Toda, Tatsushi

Abstract

Fukuyama congenital muscular dystrophy (FCMD), which is caused by mutations in the fukutingene, is the second most common form of childhood muscular dystrophy in Japan. The founder haplotype is the most prevalent in the chromosomes of Japanese FCMD patients, and corresponds to an SVA retrotransposal insertion in the 3′-untranslated region of fukutin. Although other mutations have been reported, the mutation corresponding to the second most prevalent haplotype in Japanese FCMD patients remained unknown. Recently a deep-intronic point mutation c.647+2084G>T was identified in Korean patients with congenital muscular dystrophy. Here, we performed mutational analysis of 10 patients with the second most prevalent haplotype and found that all of them were compound-heterozygous for the SVA insertion and this c.647+2084G>T mutation. The fukutinmRNA of these patients contained a pseudoexon between exon 5 and exon 6, which was consistent with the previous Korean study. As expected, the mutated fukutin protein was smaller than the normal protein, reflecting the truncation of fukutin due to a premature stop codon. Immunostaining analysis showed a decrease in the signal for the glycosylated form of α-dystroglycan. These findings indicated that this mutation is the second most prevalent loss-of-function mutation in Japanese FCMD patients.

Published
2017
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171. ß-ureidopropionase deficiency : phenotype, genotype and protein structural consequences in 16 patients

Author

van Kuilenburg, André B P, Dobritzsch, Doreen, Meijer, Judith, Krumpel, Michael, Selim, Laila A, Rashed, Mohamed S, Assmann, Birgit, Meinsma, Rutger, Lohkamp, Bernhard, Ito, Tetsuya, Abeling, Nico G G M, Saito, Kayoko, Eto, Kaoru, Smitka, Martin, Engvall, Martin, Zhang, Chunhua, Xu, Wang, Zoetekouw, Lida, Hennekam, Raoul C M, van Kuilenburg, André B P, Dobritzsch, Doreen, Meijer, Judith, Krumpel, Michael, Selim, Laila A, Rashed, Mohamed S, Assmann, Birgit, Meinsma, Rutger, Lohkamp, Bernhard, Ito, Tetsuya, Abeling, Nico G G M, Saito, Kayoko, Eto, Kaoru, Smitka, Martin, Engvall, Martin, Zhang, Chunhua, Xu, Wang, Zoetekouw, Lida, and Hennekam, Raoul C M

Abstract

ß-ureidopropionase is the third enzyme of the pyrimidine degradation pathway and catalyzes the conversion of N-carbamyl-ß-alanine and N-carbamyl-ß-aminoisobutyric acid to ß-alanine and ß-aminoisobutyric acid, ammonia and CO(2). To date, only five genetically confirmed patients with a complete ß-ureidopropionase deficiency have been reported. Here, we report on the clinical, biochemical and molecular findings of 11 newly identified ß-ureidopropionase deficient patients as well as the analysis of the mutations in a three-dimensional framework. Patients presented mainly with neurological abnormalities (intellectual disabilities, seizures, abnormal tonus regulation, microcephaly, and malformations on neuro-imaging) and markedly elevated levels of N-carbamyl-ß-alanine and N-carbamyl-ß-aminoisobutyric acid in urine and plasma. Analysis of UPB1, encoding ß-ureidopropionase, showed 6 novel missense mutations and one novel splice-site mutation. Heterologous expression of the 6 mutant enzymes in Escherichia coli showed that all mutations yielded mutant ß-ureidopropionase proteins with significantly decreased activity. Analysis of a homology model of human ß-ureidopropionase generated using the crystal structure of the enzyme from Drosophila melanogaster indicated that the point mutations p.G235R, p.R236W and p.S264R lead to amino acid exchanges in the active site and therefore affect substrate binding and catalysis. The mutations L13S, R326Q and T359M resulted most likely in folding defects and oligomer assembly impairment. Two mutations were identified in several unrelated ß-ureidopropionase patients, indicating that ß-ureidopropionase deficiency may be more common than anticipated.

Published
2012
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172. A sibling case of Wolfram syndrome with a novel mutation Y652X in WFS1

Author

Iwasaki, Naoko, primary, Fukawa, Kaori, additional, Matsuo, Mari, additional, Urano, Mari, additional, Watanabe, Motoko, additional, Ono, Yuko, additional, Tanabe, Katsuya, additional, Tanizawa, Yukio, additional, Ogata, Makiko, additional, Ide, Risa, additional, Takizawa, Miho, additional, Nagata, Satoru, additional, Osawa, Makiko, additional, Uchigata, Yasuko, additional, and Saito, Kayoko, additional

Published
2013
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173. A case of diabetes mellitus associated with severe sleep apnea and Prader–Willi syndrome

Author

Nyumura, Izumi, primary, Miura, Junnosuke, additional, Shimura, Kyoko, additional, Oya, Junko, additional, Hanai, Ko, additional, Babazono, Tetsuya, additional, Sakura, Hiroshi, additional, Funatsuka, Makoto, additional, Urano, Mari, additional, Saito, Kayoko, additional, Saito, Shinji, additional, Iwamoto, Yasuhiko, additional, and Uchigata, Yasuko, additional

Published
2013
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174. Spinal Muscular Atrophy: From Gene Discovery to Clinical Trials

Author

Nurputra, Dian K., primary, Lai, Poh San, additional, Harahap, Nur Imma F., additional, Morikawa, Satoru, additional, Yamamoto, Tomoto, additional, Nishimura, Noriyuki, additional, Kubo, Yuji, additional, Takeuchi, Atsuko, additional, Saito, Toshio, additional, Takeshima, Yasuhiro, additional, Tohyama, Yumi, additional, Tay, Stacey KH, additional, Low, Poh Sim, additional, Saito, Kayoko, additional, and Nishio, Hisahide, additional

Published
2013
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177. Charcot-marie-tooth disease type 4C in Japan: Report of a case

Author

Iguchi, Masahiro, primary, Hashiguchi, Akihiro, additional, Ito, Eiichi, additional, Toda, Kunio, additional, Urano, Mari, additional, Shimizu, Yuko, additional, Takeuchi, Chisen, additional, Saito, Kayoko, additional, Takashima, Hiroshi, additional, and Uchiyama, Shinichiro, additional

Published
2012
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178. ß-Ureidopropionase deficiency: Phenotype, genotype and protein structural consequences in 16 patients

Author

van Kuilenburg, André B.P., primary, Dobritzsch, Doreen, additional, Meijer, Judith, additional, Krumpel, Michael, additional, Selim, Laila A., additional, Rashed, Mohamed S., additional, Assmann, Birgit, additional, Meinsma, Rutger, additional, Lohkamp, Bernhard, additional, Ito, Tetsuya, additional, Abeling, Nico G.G.M., additional, Saito, Kayoko, additional, Eto, Kaoru, additional, Smitka, Martin, additional, Engvall, Martin, additional, Zhang, Chunhua, additional, Xu, Wang, additional, Zoetekouw, Lida, additional, and Hennekam, Raoul C.M., additional

Published
2012
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179. Erratum: Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions

Author

Ono, Shinji, primary, Yoshiura, Koh-ichiro, additional, Kinoshita, Akira, additional, Kikuchi, Taeko, additional, Nakane, Yoshibumi, additional, Kato, Nobumasa, additional, Sadamatsu, Miyuki, additional, Konishi, Tohru, additional, Nagamitsu, Shinichiro, additional, Matsuura, Masato, additional, Yasuda, Ayako, additional, Komine, Maki, additional, Kanai, Kazuaki, additional, Inoue, Takeshi, additional, Osamura, Toshio, additional, Saito, Kayoko, additional, Hirose, Shinichi, additional, Koide, Hiroyoshi, additional, Tomita, Hiroaki, additional, Ozawa, Hiroki, additional, Niikawa, Norio, additional, and Kurotaki, Naohiro, additional

Published
2012
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181. Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing

Author

Kondo, Eri, primary, Nishimura, Takafumi, additional, Kosho, Tomoki, additional, Inaba, Yuji, additional, Mitsuhashi, Satomi, additional, Ishida, Takefumi, additional, Baba, Atsushi, additional, Koike, Kenichi, additional, Nishino, Ichizo, additional, Nonaka, Ikuya, additional, Furukawa, Toru, additional, and Saito, Kayoko, additional

Published
2012
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182. Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions

Author

Ono, Shinji, primary, Yoshiura, Koh-ichiro, additional, Kinoshita, Akira, additional, Kikuchi, Taeko, additional, Nakane, Yoshibumi, additional, Kato, Nobumasa, additional, Sadamatsu, Miyuki, additional, Konishi, Tohru, additional, Nagamitsu, Shinichiro, additional, Matsuura, Masato, additional, Yasuda, Ayako, additional, Komine, Maki, additional, Kanai, Kazuaki, additional, Inoue, Takeshi, additional, Osamura, Toshio, additional, Saito, Kayoko, additional, Hirose, Shinichi, additional, Koide, Hiroyoshi, additional, Tomita, Hiroaki, additional, Ozawa, Hiroki, additional, Niikawa, Norio, additional, and Kurotaki, Naohiro, additional

Published
2012
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186. Comprehensive genetic analyses of PLP1 in patients with Pelizaeus–Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications

Author

Shimojima, Keiko, primary, Inoue, Takehiko, additional, Hoshino, Ai, additional, Kakiuchi, Satsuki, additional, Watanabe, Yoshiaki, additional, Sasaki, Masayuki, additional, Nishimura, Akira, additional, Takeshita-Yanagisawa, Akiko, additional, Tajima, Go, additional, Ozawa, Hiroshi, additional, Kubota, Masaya, additional, Tohyama, Jun, additional, Oka, Akira, additional, Saito, Kayoko, additional, Osawa, Makiko, additional, and Yamamoto, Toshiyuki, additional

Published
2010
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191. Mowat-Wilson Syndrome Affecting 3 Siblings

Author

Ohtsuka, Motoko, primary, Oguni, Hirokazu, additional, Ito, Yasushi, additional, Nakayama, Tomohiro, additional, Matsuo, Mari, additional, Osawa, Makiko, additional, Saito, Kayoko, additional, Yamada, Yasukazu, additional, and Wakamatsu, Nobuaki, additional

Published
2008
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193. A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing.

Author

Kubo, Yuji, Nishio, Hisahide, and Saito, Kayoko

Subjects
MOTOR neurons, SPINAL muscular atrophy, POLYMERASE chain reaction, EXONS (Genetics), DELETION mutation, HOMOZYGOSITY
Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by progressive loss of motor neurons in the spinal cord. Approximately 95% of SMA patients have a homozygous deletion of the survival motor neuron 1 (SMN1) gene, whereas 5% harbor compound heterozygous mutations such as an SMN1 deletion allele and an intragenic mutation in the other SMN1 allele. It is difficult to detect intragenic mutations in SMN1 because of the high degree of homology shared between SMN1 and SMN2. Current methods analyze a restricted region from exon 2a to exon 7 in SMN1. We propose a new, efficient long-range polymerase chain reaction (PCR) method for detecting intragenic mutations in SMN1 (exon 1-8) and hybrid SMN genes. We analyzed 20 unrelated SMA patients using SMN copy number analysis, and the new long-range PCR method followed by sequencing. We thus confirmed a novel mutation in SMN1 exon 1 (c.5C>T) in three patients with SMA type III who also had an SMN1 deletion allele. Moreover, we confirmed three hybrid SMN gene types in eight patients. We report a novel SMN1 mutation responsible for a relatively mild SMA phenotype and three hybrid SMN gene types in patients with SMA type III. [ABSTRACT FROM AUTHOR]

Published
2015
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194. TRH therapy in a patient with juvenile Alexander disease

Author

Ishigaki, Keiko, primary, Ito, Yasushi, additional, Sawaishi, Yukio, additional, Kodaira, Kayano, additional, Funatsuka, Makoto, additional, Hattori, Nozomi, additional, Nakano, Kazutoshi, additional, Saito, Kayoko, additional, and Osawa, Makiko, additional

Published
2006
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199. Fukutin expression in mouse non-muscle somatic organs: its relationship to the hypoglycosylation of α-dystroglycan in Fukuyama-type congenital muscular dystrophy

Author

Saito, Yoshiaki, primary, Yamamoto, Tomoko, additional, Ohtsuka-Tsurumi, Eiko, additional, Oka, Akira, additional, Mizuguchi, Masashi, additional, Itoh, Masayuki, additional, Voit, Thomas, additional, Kato, Yoichiro, additional, Kobayashi, Makio, additional, Saito, Kayoko, additional, and Osawa, Makiko, additional

Published
2004
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200. Cloning of cDNA Encoding a Regeneration-Associated Muscle Protease Whose Expression Is Attenuated in Cell Lines Derived from Duchenne Muscular Dystrophy Patients

Author

Nakayama, Yuki, primary, Nara, Noriko, additional, Kawakita, Yukiko, additional, Takeshima, Yasuhiro, additional, Arakawa, Masayuki, additional, Katoh, Masaki, additional, Morita, Sumiyo, additional, Iwatsuki, Ken, additional, Tanaka, Kiyoko, additional, Okamoto, Shiki, additional, Kitamura, Toshio, additional, Seki, Naohiko, additional, Matsuda, Ryoichi, additional, Matsuo, Masafumi, additional, Saito, Kayoko, additional, and Hara, Takahiko, additional

Published
2004
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