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下記の領域に関して、当センター以外の主治医におかかりの患者さんを対象に、診断内容や治療法に関して意見・判断を提供いたします。
(遺伝性神経筋疾患、遺伝性血液疾患、糖尿病、染色体異常症など)
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学術論文 (英文)
1. Ito Y, Kumada S, Uchiyama A, Saito K, Osawa M, Yagishita A, Kurata K, Hayashi M. Thalamic lesions in a long-surviving child with spinal muscular atrophy type I: MRI and EEG findings. Brain Dev 2004; 26(1):53-56.
2. Ito M, Saito K, Du J, Mitani S, Osawa M. Phenotype-Genotype correlation in Japanese spinal muscular atrophy patients: Analysis of DNA and mRNA of the SMN gene. J Tokyo Wom Med Univ 2004; 74:167-178.
3. Nakayama Y, Nara N, Kawakita Y, Takeshima Y, Arakawa M, Katoh M, Morita S, Iwatsuki K, Tanaka K, Okamoto S, Kitamura T, Seki N, Matsuda R, Matsuo M, Saito K, and Hara T. Cloning of cDNA encoding a regeneration-associated muscle protease whose expression is attenuated in cell lines derived from Duchenne muscular dystrophy patients. Am J Pathol 2004; 164(5):1773-1782.
4. Saito Y, Yamamoto T, Ohtsuka-Tsurumi E, Oka A, Mizuguchi M, Itoh M, Voit T, Kato Y, Kobayashi M, Saito K, Osawa M. Fukutin expression in mouse non-muscle somatic organs: its relationship to the hypoglycosylation of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy. Brain Dev 2004; 26(7):469-479.
5. Weber YG, Berger A, Bebe N, Maier S, Karafyllakes S, Meyer N, Fukuyama Y, Halbachn A, Hikel C, Kurlemann G, Neubauer B, Osawa M, Puest B, Rating D, Saito K, Stephani U, Tauer U, Lehmann-Horn F, Jurket-Rott K, Lerche H. Benign familial infantile convulsions: Linkage to chromosome 16p12-q12 in 14 families. Epilepsia 2004; 45(6): 601-609.
6. Kanno H, Takizawa T, Miwa S, Fujii H. Molecular basis of Japanese variants of pyrimidine 5'-nucleotidase deficiency. Br J Haematol 2004; 126:265-271.
7. Nakano K, Noda N, Tachikawa E, Urano M, Takazawa M, Nakayama T, Sasaki K, Osawa M. A Preliminary study of methylcobalamin therapy in autism. J Tokyo Wom Med Univ 2005; 75(3・4):64-69.
8. Aizawa S, Harada T, Kanbe E, Tsuboi I, Aisaki K, Fujii H, Kanno H. Ineffective erythropoiesis in mutant mice with deficient pyruvate kinase activity. Exp Hematol 2005; 33:1292-1298.
9. Harada T, Nagasu M, Tsuboi I, Koshinaga M, Kanno H, Aizawa S. Cyclic polylactate inhibited growth of cloned leukemic cells through reducing glycolytic enzyme activities. Oncol Rep 2005; 14(2):501-505.
10. Park-Hah JO, Kanno H, Kim WD, Fujii H. A novel homozygous mutation of PKLR gene in a pyruvate-kinase-deficient Korean family. Acta Haematol 2005; 113:208-211.
11. Saito Y, Yamamoto T, Mizuguchi M, Kobayahi M, Saito K, Ohno K, Osawa M. Altered glycosylation of α-dystroglycan in neurons of Fukuyama congenital muscular dystrophy brains. Brain Res 2006; 1075:223-228.
12. Saito K. Prenatal diagnosis of Fukuyama congenital muscular dystrophy. Prenat Diagn 2006; 26:415-417.
13. Akiyama T, Ohtsuka Y, Takata T, Hattori J, Kawakita Y, Saito K. The mildest known case of Fukuyama-type congenital muscular dystrophy. Brain Dev 2006; 28:537-540.
14. Komura K, Nakano K, Ishigaki K, Tarashima M, Nakayama T, Sasaki K, Saito K, Osawa M. Creatine monohydrate therapy in a Leigh syndrome patient with A8344G mutation. Pediatr Int 2006; 48:409-412.
15. Nakanishi T, Sakauchi M, Kaneda Y, Tomimatsu H, Saito K, Nakazawa M. Cardiac involvement in Fukuyama-type congenital muscular dystrophy. Pediatrics 2006; 117:1187-1192.
16. Kajimoto H, Ishigaki K, Okumura K, Tomimatsu H, Nakazawa M, Saito K, Osawa M, Nakanishi T. Beta-blocker therapy for cardiac dysfunction in patients with muscular dystrophy. Circ J 2006; 70(8):991-994.
17. Ishigaki K, Ito Y, Sawaishi Y, Kodaira K, Funatsuka M, Hattori N, Nakano K, Saito K, Osawa M. TRH therapy in a patient with juvenile Alexander disease. Brain Dev 2007; 28(10):663-667.
18. Kuno S, Furihata S, Itou T, Saito K, Kamatani N . Unified method for Bayesian calculation of genetic risk. J Hum Genet 2006; 51(4):387-390.
19. Kanno H, Utsugisawa T, Aizawa S, Koizumi T, Aisaki K, Hamada T, Ogura H, Fujii H. Transgenic rescue of hemolytic anemia due to red blood cell pyruvate kinase deficiency. Haematologica 2007; 9206:731-737.
20. Aisaki K, Aizawa S, Fujii H, Kanno J, and Kanno H. Glycolytic inhibition by mutation of pyruvate kinase gene increases oxidative stress and causes apoptosis of a pyruvate kinase deficient cell line. Exp Hematol 2007; 35:1190-1200.
21. Ohtsuka M, Oguni H, Ito Y, Nakayama T, Matsuo M, Osawa M, Saito K, Yamada Y, Wakamatsu N. Mowat-Wilson Syndrome Affecting 3 Siblings. J Child Neurol 2008; 23(3):274-278.
22. Nakayama T, Oguni H, Funatsuka M, Saito K, Osawa M . Three patients with severe bilateral frontoparietal polymicrogyria. Pediatr Neurol 2008; 38(5):353-356.
23. Sasaki R, Saito K, Watanabe Y, Takayama Y, Fujii K, Agawa K, Miyashita T, Ando T, Akizuki T. Nevoid basal cell carcinoma syndrome with cleft lip and palate associated with the novel PTCH gene mutations. J Hum Genet 2009; 54:398-402.
24. Shimojima K, Saito K, Yamamoto T. A de novo 1.9-Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay. Am J Med Genet A 2009; 149A (8):1818-1822.
25. Abe A, Numakura C, Saito K, Koide H, Oka N, Honma A, Kishikawa Y, Hayasaka H. Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease:nonsense mutation probably causes a recessive phenotype. J Hum Genet 2009; 54:94-97.
26. Kuru S, Motoko Sakai M, Konagaya M, Yoshida M, Hashizume Y, Saito K. An autopsy case of spinal muscular atrophy type III (Kugelberg-Welander disease). Neuropathology 2009; 29:63-67.
27. Kawamichi Y, Cui CH, Toyoda M, Makino H, Horie A, Takahashi Y, Matsumoto K, Saito H, Ohta H, Saito K, Umezawa A. Cells of extraembryonic mesodermal origin confer human dystrophin in the mdx model of Duchenne muscular dystrophy. J Cell Physiol 2010; 223(3):695-702.
28. Shimojima K, Inoue T, Hoshino A, Kakiuchi S, Watanabe Y, Sasaki M, Nishimura A, Takeshita-Yanagisawa A, Tajima G, Ozawa H, Kubota M, Tohyama J, Sasaki M, Oka A, Saito K, Osawa M, Yamamoto T. 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. Brain Dev 2010; 32(3):171-179.
29. Shimojima K, Sugiura C, Takahashi H, Ikegami M, Takahashi Y, Ohno K, Matsuo M, Saito K, Yamamoto T. Genomic copy number variations at 17p13.3 and epileptogenesis. Epilepsy Res 2010; 89(2-3):303-309.
30. Nagao K, Fujii K, Saito K , Sugita K, Endo M, Motojima T, Hatsuse H, Miyashita T. Entire PTCH1 deletion is a common event in point mutation-negative cases with nevoid basal cell carcinoma syndrome in Japan. Clin Genet 2011;79:196-198.
31. Sasaki R, Miyashita T, Matsumoto N, Fujii K, Saito K, Ando T.Multiple keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome having distinct PTCH1 mutations: a case report.Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2010;110(2):e41-6.
32. Kondo H,Saito K, Urano M,Sagara Y, Uchio E and Kondo M.A case of Fukuyama Congenital Muscular Dystrophy Associated with Negative Electroretinograms.Jpn.J.Ophthalmol. 2010;54(6):622-624.
33. Ishitani K,Kanno H, Uchiyama T,Oka J,Hamada T,Saito K, Matsui H.Impact of polymorphisms on docetaxel-induced neutropenia in Japanese patients with gynecologic cancer.J Clin Oncol. 2011;29(suppl; abstre13015).
34. Takahashi Y,Hosoki K,Matsushita M,Funatsuka M,Saito K,Kanazawa H,Goto Y,and Saitoh S.A loss-of-function mutation in the SLC9A6 gene causes X-Linked mental retardation resembling Angelman syndrome.Am J Med Genet 2011;Part B 156(7):799-807.
35. Endo M, Fujii K, Sugita K, Saito K, Kohno Y, Miyashita T.Nationwide survey of nevoid basal cell carcinoma syndrome in Japan revealing the low frequency of basal cell carcinoma.Am J Med Genet 2012;Part A 158(A):351-357.
36. Kondo E, Nishimura T, Kosho T, Inaba Y, Matsuhashi S, Ishida T, Baba A, Koike K, Nishino I, Nonaka I, Furukawa T, Saito K.Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing.Am J Med Genet Part A 2012;158(A):772-778.
37. Arakawa R, Aoki R, Arakawa M, Saito K.Human first-trimester chorionic villi have a myogenic potential.Cell Tissue Res 2012;348(1):189-197.
38. Ono S, Yoshiura K, Kinoshita A, Kikuchi T, Nakane Y, Kato N, Sadamatsu M , Konishi T, Nagamitsu S, Matsuura M, Yasuda A, Komine M, Kanai K, Inoue T, Osamura T, Saito K, Hirose S, Koide H, Tomita H, Ozawa H, Niikawa N, Kurotaki N. Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions. J Hum Genet 2012;57:338-341.
39. van Kulenburg A B, Dobritzsch D, Meijer J, Krumpel M, Selim L A., Rashed M S., Assmann B, Meinsma R,  Lohkamp B, Ito T, Abeling N G.G.M, Saito K,  Eto K, Smitka M, Engvall M, Zhang C, Xu W,  Zoetekouw L,  Hennekam R C.M. β-Ureidopropionase dificiency:Phenotype,genotype and protein structural consequences in 16 patients. Biochim Biophys Acta 2012;1822(7):1096-1108.
40. Uchiyama T, Kanno H, Ishitani K, Fujii H, Ohta H, Matsui H, Kamatani N, Saito K. An SNP in CYP39A1 is associated with severe neutropenia induced by docetaxel. Cencer Chemother Pharmacol 2012;69:1617-1624.
41. Kuramochi H, Kanno H, Uchiyama T, Nakajima G, Saito K, Hayashi K. Comprehensive analysis of genetic polymorphisms and irinotecan-induced adverse events in Japanese gastrointestinal cancer patients:A DMET microarray profiling study. J Clin Oncol 30,2012(supppl;abstr e21108)
42. Akizawa Y, Nishimura G, Hasegawa T, Takagi M, Kawamichi Y, Matsuda Y, Matsui H, Saito K. Prenatal diagnosis of osteogenesis imperfecta type Ⅱ by three-dimensional computed tomography:The current state of fetal computed tomography. Congenital Anomalies 2012;52(4):203-206.
43. Akizawa Y, Kanno H, Kawamichi Y, Matsuda Y, Ohta H, Fujii H, Matsui H, Saito K. Enhanced expression of myogenic differentiation factors and skeletal muscle proteins in human amnion-derived cells via  the forced expression of MYOD1. Brain Dev 2012;35(4):349-355. 
44. Sato T, Ishigaki K, Kajino S, Saito T, Murakami T, Kato I, Funatsuka M, Saito K, Osawa M. Insomnia in Patients with Fukuyama Congenital Muscular Dystrophy. J Tokyo Women Med Univ 2013; 83:E42-E46
45. Toyota K, Ogino D, Hayashi M, Taki M, Saito K, Abe A, Hashimoto T, Umetsu K, Tsukaguchi H, Hayasaka K. INF2 mutations in Charcot-Marie- Tooth disease complicated with focal segmental glomerulosclerosis. J Peripher Nerv Syst 2013;18:97-98.
46. Kato M, Yamagata T, Kubota M, Arai H, Yamashita S, Nakagawa T, Fujii T, Sugai K, Imai K, Uster T, Chitayat D, Weiss S, Kashii H, Kusano T, Matsumoto A, Nakamura K, Oyazato Y, Maeno M, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Saito K, Hayasaka K, Matsumoto N, Saitsu H. Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. Epilepsia 2013;54(7):1282-1287.
47. Suzuki M, Nagao K, Hatsuse H, Sasaki R, Saito K, Fujii K, Miyashita T. Molecular pathogenesis of keratocystic odontogenic tumors developing in nevoid basal cell carcinoma syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2013;116(3):348-353.
48. Nurputra DK, Lai PS, Harahap NI, Morikawa S, Yamamoto T, Nishimura N, Kubo Y, Takeuchi A, Saito T, Takeshima Y, Tohyama Y, Tay SK, Low PS, Saito K, Nishio H. Spinal Muscular Atrophy: From gene discovery to clinical trials. Ann Hum Genet 2013;77(5):435-463.
49. Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, Kosho T, Ohashi  H, Kato M, Sasaki G, Mabe H, Watanabe Y, Yoshino M, Matsuishi T, Takanashi J, Shotelersuk V, Tekin M, Ochi N, Kubota M, Ito N, Ihara K, Hara T, Tonoki H, Ohta T, Saito K, Matsuo M, Urano M, Enokizono T, Sato A, Tanaka H, Ogawa A, Fujita T, Hiraki Y, Kitanaka S, Matsubara Y, Makita T, Taguri M, Nakashima M, Tsurusaki Y, Saitsu H, Yoshiura K, Matsumoto N, Niikawa N. MLL2 and KDM6A mutations in patients with Kabuki syndrome. Am J Med Genet A.2013; 161(9):2234-2243.
50. Yamamoto T, Matsuo M, Shimada S, Sangu N, Shimojima K, Aso S, Saito K. De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features. Mol Cytogenet.2013; 6(1):15.
51. Iwasaki N, Fukawa K, Matsuo M, Urano M, Watanabe M, Ono Y, Tanabe K, Tanizawa Y, Ogata M, Ide R, Takizawa M, Nagata S, Osawa M, Uchigata Y, Saito K. A sibling case of Wolfram syndrome with a novel mutation Y652X in WFS1. Diabetol Int.2014;5:148-153
52. Yamamoto T, Sato H, Lai PS, Nurputra DK, Harahap NI, Morikawa S, Nishimura N, Kurashige T, Ohshita T, Nakajima H, Yamada H, Nishida Y, Toda S, Takanashi J, Takeuchi A, Tohyama Y, Kubo Y, Saito K, Takeshima Y, Matsuo M, Nishio H. Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients. Brain Dev.2014; 36(10):914-920.
53. Sato Y, Yamauchi A, Urano M, Kondo E, Saito K. Corticosteroid therapy for Duchenne muscular dystrophy: improvement of psychomotor function. Pediatr Neurol. 2014;50:31-37.
54. Yamada Y, Nomura N, Yamada K, Matsuo, M, Suzuki Y, Sameshima K, Kimura R, Yamamoto Y, Fukushi D, Fukuhara Y, Ishihara N, Nishi E, Imataka G, Suzumura, H, Hamano S-I, Shimizu K, Iwakoshi M, Ohama K, Ohta A, Wakamoto H, Kajita M, Miura K, Yokochi K, Kosaki K, Kuroda T, Kosaki R, Hiraki Y, Saito K, Mizuno S, Kurosawa K, Okamoto N, Wakamatsu N. The Spectrum of ZEB2 Mutations Causing the Mowat-Wilson Syndrome in Japanese Populations. Am J Med Genet Part A .2014;164:1899-1908
55. Nakajima Y, Meijer J & Dobritzsch D, Ito T, Meinsma R, Abeling NGGM, Roelofsen J, Zoetekouw L, Watanabe Y, Tashiro K, Lee T, Takeshima Y, Mitsubuchi H, Yoneyama A, Ohta K, Eto K, Saito K, Kuhara T, van Kuilenburg ABP. Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation. J Inherit Metab Dis 2014;37:801–812
56. Yamamoto T, Mencarelli A, Di Marco C, Mucciolo M, Vascotto M, Balestri P, Gérard M, Mathieu-Dramard M, Andrieux J, Breuning M, Hoffer MJV, Ruivenkamp CAL, Shimada S, Sangu N, Shimojima K, Umezu R, Kawame H, Matsuo M, Saito K, Renier Ai, Mari F, Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA. Eur J Med Genet 2014;57:163-168
57. Ishiura H, Takahashi Y, Hayashi T, Saito K, Furuya H, Watanabe M, Murata M, Suzuki M, Sugiura A, Sawai S, Shibuya K, Ueda N, Ichikawa Y, Kanazawa I, Goto J, Tsuji S. Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses. J Hum Genet 2014;59:163-172
58. Arakawa M, Arakawa R, Tatsumi S, Aoki R, Saito K, Nomoto A. A novel evaluation method of survival motor neuron protein as a biomarker of spinal muscular atrophy by imaging flow cytometry .Biochem Biophys Res Commun. 2014;453(3):368-374.
59. Saito T, Nurputra DK, Harahap NI, Indra S.K.Harahap, Yamamoto H,  Muneshige E, Nishizono H, Matsumura T, Fujimura H, Sakoda S, Saito K,Nishio H. A study of valproic acid for patients with spinal muscular atrophy. Neurology and Clinical Neuroscience.2014;1-9.
60. Kato N, Sa'adah N, Rochmah MA,   Harahap NI, Nurputra DK, Sato H,   Sadewa AH, Astuti I,Haryana SM, Saito T, Saito K, Nishimura N, Nishio H, Takeuchi A. SMA Screening System Using Dried Blood Spots on Filter Paper : Application of COP-PCR to the SMN1 Deletion Test  Kobe J.Med.Sci.2014; 60(4):E78-E85
61. Harahap NI, Takeuchi A,  Yusoff S, Tominaga K, Okinaga T, Kitai Y, Takarada T, Kubo Y, Saito K,  Sa'adah N, Nurputra DK, Nishimura N, Saito T, Nishio H.  Trinucleotide insertion in the SMN2 promoter may not be related to the clinical phenotype of SMA  Brain Dev.2015; 37(7):669-676
62. Nyumura I, Miura J, Shimura K, Oya J, Hanai K, Babazono T, Sakura H, Funatsuka M, Urano M, Saito K, Saito S, Iwamoto Y, Uchigata Y.   A case of diabetes mellitus associated with severe sleep apnea and Prader-Willi syndrome   Diabetol Intl. 2014; 5:69-73.
63. Kubo Y, Nishio H,Saito K.  A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing   J Hum Genet. 2015; 60(5):233-9.
64. Yamada H, Nishida Y, Maihara T, Sa’adah N, Harahap NI,Nurputra DK , Rochmah MA , Nishimura N, Saito T, Kubo Y,  Saito K, Nishio H.   Two Japanese patients with SMA type 1 suggest thataxonal-SMN may not modify the disease severity   Pediatric Neurology.  2015;52:638-641.
65.
Furukawa Y, Ogawa G, Hokkoku K,Hatanaka Y, Aoki R,  Saito K, Sonoo M.
Diagnostic use of surface EMG in a patient with spinal muscular atrophy     Muscle & Nerve.2015;7:153-154.
66. Nihayatus Sa'adah,Nur Imma Fatimah Harahap,Dian Kesumapramudya Nurputra,Mawaddah Ar Rochmah,Satoru Morikawa,Noriyuki Nishimura,Ahmad Hamim Sadewa,Indwiani Astuti,Sofia Mubarika Haryana,toshio Saito,kayoko Saito,Hisahide Nishio  A Rapid,Accurate and Simple Screening Method for Spinal Muscular Atrophy:High-Resolution Melting Analysis Using Dried Blood Spots on Filter Paper    Clin Lab. 2015;61(5-6):575-580.
67. Saito K,  Fukuyama congenital muscular dystrophy    (May 2012) in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2010. Available at http://www.genetests.org.
 
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