Faculty Information - Saito Kayoko

Published papers

Academic conference presentation

Social activities

Committee memberships

Research areas

Awards & honors

Academic society memberships

Education

Academic & professional experience

（Last updated : 2024-07-25 14:23:34）

Saito Kayoko
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine

Position Professor (Fixed Term)

■ Published papers

1.	Original article	Real-world outcomes in patients with spinal muscular atrophy treated with onasemnogene abeparvovec monotherapy: Findings from the RESTORE registry. 2024/03/05
2.	Original article	Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability. 2024/02
3.	Original article	Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification. 2023/09
4.	Original article	CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis. 2023/07
5.	Original article	A Case Series of Patients With MYBPC1 Gene Variants Featuring Undulating Tongue Movements as Myogenic Tremor. 2023/06
6.	Original article	Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA). 2023/02
7.	Original article	Natural history of Type 1 spinal muscular atrophy: a retrospective, global, multicenter study. 2022/07
8.	Original article	Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial. 2022/06
9.	Original article	Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial. 2022/06
10.	Original article	Effective Valproic Acid Treatment in Motor Function is Caused by Possible Mechanism of Elevated Survival Motor Neuron Protein Related with Splicing Factor Gene Expression in Spinal Muscular Atrophy 2022/05/20
11.	Original article	Epidemiological investigation of spinal muscular atrophy in Japan. 2022/01
12.	Original article	Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial 2022/01
13.	Original article	Psychogenic seizures in a child with infantile convulsions and choreoathetosis 2022
14.	Case report	Psychogenic seizures in a child with infantile convulsions and choreoathetosis 2021/09/07
15.	Other	Questionnaire Survey on Balancing Work and Family (Elderly) Care of the Staffs of Tokyo Women’s Medical University 2021/08
16.	Original article	Cybernic treatment with wearable cyborg Hybrid Assistive Limb (HAL) improves ambulatory function in patients with slowly progressive rare neuromuscular diseases: a multicentre, randomised, controlled crossover trial for efficacy and safety (NCY-3001). 2021/07
17.	Original article	Expert recommendations and clinical considerations in the use of onasemnogene abeparvovec gene therapy for spinal muscular atrophy. 2021/06
18.	Case report	Three Dilated Cardiomyopathy Cases with Underlying Muscular Dystrophy 2021/06
19.	Original article	Phenotypes of SMA patients retaining SMN1 with intragenic mutation. 2021/04
20.	Original article	Morphological Alterations of the Sarcotubular System in Permanent Myopathy of Hereditary Hypokalemic Periodic Paralysis with a Mutation in the CACNA1S Gene. 2020/12
21.	Case report	A Case of BRAF-V600E Mutation-positive Metachronous Secondary Lung Cancer Detected by Bone Metastatic Lesion 2020/04
22.	Original article	RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design. 2020/03/20
23.	Original article	Analysis of spinal muscular atrophy-like patients by targeted resequencing. 2020/02
24.	Review article	Antisense nucleic acid therapy for spinal muscular atrophy 2019/11
25.	Other	Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0. 2019/09
26.	Review article	Fukuyama Congenital Muscular Dystrophy 2019/07
27.	Original article	Association between SLCO1B1 rs4149056 and tegafur-uracil-induced hepatic dysfunction in breast cancer. 2019/04
28.	Original article	A new biomarker candidate for spinal muscular atrophy:ldentification of a peripheral blood cell population capable of monitoring the level of survival motor neuron protein 2018/08
29.	Original article	Diagnosis and Genetic Counseling for Mitochondrial Disease at the Institute of Medical Genetics, Tokyo Women's Medical University 2018/08
30.	Original article	A novel MLH1 mutation in a Japanese family with Lynch syndrome associated with small bowel cancer. 2018
31.	Original article	Association of HLA-A*31:01 Screening With the Incidence of Carbamazepine-Induced Cutaneous Adverse Reactions in a Japanese Population 2018
32.	Original article	Familial campomelic dysplasia due to maternal germinal mosaicism 2018
33.	Original article	Intron-retained transcripts of the spinal muscular atrophy genes, SMN1 and SMN2 2018
34.	Original article	Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy 2018
35.	Original article	Spinal muscular atrophy carriers with two SMN1 copies. 2017/11
36.	Original article	Change of minds in pregnant women and their partners during NIPT genetic counseling 2017/10
37.	Original article	Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation. 2017/07
38.	Original article	Genetic Counseling for Couples Seeking Noninvasive Prenatal Testing in Japan: Experiences of Pregnant Women and their Partners 2017/06
39.	Original article	Connexin-45 as a New Gene Underlying Syndromic AV Block 2017
40.	Original article	Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan 2017
41.	Original article	Genetic screening of spina I muscular atrophy using a real-time modified COP-PCR technique with dried blood-spot DNA 2017
42.	Original article	Nusinersen versus sham control in infantile-onset spinal muscular atrophy 2017
43.	Original article	Proliferation without nuclei suggests mitochondrial cells (Mito Cells) to be prokaryatic nature 2017
44.	Original article	Relationships between long-term observations of motor milestones and genotype analysis results in childhood-onset Japanese spinal muscular atrophy patients 2017
45.	Original article	Respiratory management of patients with Fukuyama congenital muscular dystrophy. 2016/03
46.	Original article	Effect of Lipopolysaccharide on the Progression of Non-Alcoholic Fatty Liver Disease in High Caloric Diet-Fed Mice 2016/02
47.	Original article	Telomeric region of the spinal muscular atrophy locus is susceptible to structural variations 2016/01
48.	Original article	Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2. 2016
49.	Original article	Imaging flow cytometry analysis to identify differences of SMN protein expression in spinal muscular atrophy patients 2016
50.	Original article	Imaging flow cytometry analysis to identify differences of survival motor neuron protein expression in patients with spinal muscular atrophy 2016
51.	Original article	Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders 2016
52.	Original article	Gorlin Syndrome With an Obarian Leiomyoma Associated With a PTCH1 Second Hit 2015/12
53.	Original article	Trinucleotide insertion in the SMN2 promoter may not be related to the clinical phenotype of SMA. 2015/08
54.	Original article	Diagnostic use of surface EMG in a patient with spinal muscular atrophy 2015/07
55.	Original article	A new method for SMN1 and hybrid SMN gene analysis in spinal muscular atrophy using long-range PCR followed by sequencing 2015/05
56.	Original article	"Two Japanese patients with SMA type 1 suggest that axonal-SMN may not modify the disease severity" 2015
57.	Original article	A Rapid,Accurate and Simple Screening Method for Spinal Muscular Atrophy:High-Resolution Melting Analysis Using Dried Blood Spots onFilter Paper 2015
58.	Original article	A study of valproic acid for patients with spinal muscular atrophy 2014/11
59.	Original article	Intragenic mutations in SMN1 may contribute more significantly to clinical severity than SMN2 copy numbers in some spinal muscular atrophy (SMA) patients 2014/11
60.	Original article	SMA Screening Sysytem Using Dried Blood Spots on Filter Paper: Application of COP-PCR to the SMN1 Deletion Test 2014/11
61.	Original article	A novel evaluation method of survival motor neuron protein as a biomarker of spinal muscular atrophy by imaging flow cytometry 2014/10
62.	Original article	The Spectrum of ZEB2 Mutations Causing the Mowat-Wilson Syndrome in Japanese Populations 2014/04
63.	Original article	A case of diabetes mellitus associated with severe sleep apnea and Prader-Willi syndrome 2014/03
64.	Original article	Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation 2014/02
65.	Original article	Corticosteroid Therapy for Duchenne Muscular Dystrophy: Improvement of Psychomotor Function 2014/01
66.	Original article	Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses 2014/01
67.	Original article	MLL2 and KDM6A mutations in patients with Kabuki Syndrome 2013/09
68.	Original article	Molecular pathogenesis of keratocystic odontogenic tumors developing in nevoid basal cell carcinoma syndrome 2013/09
69.	Review article	Spinal Muscular Atrophy:From gene discovery to clinical trials 2013/09
70.	Original article	Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutaion 2013/07
71.	Original article	Enhanced expression of myogenic differentiation factors and skeletal muscle proteins in human amnion-derived cells via the forced expression of MYOD1 2013/04
72.	Original article	Insomnia in Patients with Fukuyama Congenital Muscular Dystrophy 2013/01
73.	Original article	INF2 mutations in Charcot-Marie-Tooth disease complicated with focal segmental glomerulosclerosis 2013
74.	Original article	Prenatal diagnosis of osteogenesis imperfecta type2 by three-dimensional computed tomography:The current state of fetal computed tomography. 2012/12
75.	Original article	An SNP in CYP39A1 is associated with severe neutropenia induced by docetaxel. 2012/06
76.	Original article	An SNP in CYP39A1 is associated with severe neutropenia induced by docetaxel. 2012/06
77.	Original article	Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions 2012/05
78.	Original article	β-Ureidopropionase dificiency:Phenotype,genotype and protein structural consequences in 16 patients 2012/04
79.	Original article	Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions 2012/03
80.	Original article	Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing 2012/03
81.	Original article	Human first-trimester chorionic villi have a myogenic potential 2012/02
82.	Original article	Nationwide survey of nevoid basal cell carcinoma syndrome in Japan revealing the low frequency ofbBasal cell carcinoma 2012/02
83.	Original article	Comprehensive analysis of genetic polymorphisms and irinotecan-induced adverse events in Japanese gastrointestinal cancer patients:A DMET microarray profiling study. 2012
84.	Original article	Fukuyama congenital muscular dystrophy 2012
85.	Original article	A Loss-of-Function Mutation in the SLC9A6 Gene Causes X-Linked Mental Retardation Resembling Angelman Syndrome 2011/12
86.	Original article	Impact of polymorphisms on docetaxel-induced neutropenia in Japanese patients with gynecologic cancer 2011/05
87.	Original article	New insights into the pathogenesis of spinal muscular atrophy 2011/04
88.	Original article	Entire PTCH1 deletion is a common event in point mutation-negative cases with nevoid basal cell carcinoma syndrome in Japan 2011/02
89.	Original article	A case of Fukuyama Congenital Muscular Dystrophy Associated with Negative Electroretinograms 2010/12
90.	Original article	Genomic copy number variations at 17p13.3 and epileptogenesis. 2010/05
91.	Original article	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. 2010/03
92.	Original article	Cells of extraembryonic mesodermal origin confer human dystrophin in the mdx model of Duchenne muscular dystrophy 2010
93.	Case report	Multiple keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome having distinct PTCH1 mutations: a case report 2010
94.	Original article	Nevoid basal cell carcinoma syndrome with cleft lip and palate associated with the novel PTCH gene mutations 2009/07
95.	Case report	An autopsy case of spinal muscular atrophy type III(Kugelberg-Welander disease) 2009/02
96.	Original article	Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease:nonsense mutation probably causes a recessive phenotype 2009/02
97.	Original article	A de novo 1.9-Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay 2009
98.	Original article	Characteristics of neurons and glia in the brain of Fukuyama type congenital musculae dystrophy 2008/07
99.	Original article	Mowat-W ilson Syndrome Affecting 3 Siblings 2008/03
100.	Review article	Bioethics in Clinical Genetics: View Points from Clinical Practice 2008/01
101.	Original article	Three patients with severe bilateral frontoparietal polymicrogyria. 2008
102.	Original article	TRH therapy in a patient with juvenile Alexander disease 2006/11
103.	Review article	TRH therapy in a patient with juvenile Alexander disease 2006/09
104.	Original article	Beta-Blocker Therapy for Cardiac Dysfunction in Patients With Muscular Dystrophy 2006/08
105.	Original article	Cardiac involvement in Fukuyama-type congenital muscular dystrophy 2006/06
106.	Original article	Altered glycosylation of alpha-dystroglycan in neurons of Fukuyama congenital muscular dystrophy brains. 2006/02
107.	Original article	Creatin monohydrate therapy in a Leigh syndrome patient with A8344G mutation 2006
108.	Review article	Prenatal diagnosis of Fukuyama congenital muscular dystrophy 2006
109.	Original article	The mildest known case of Fukuyama-type congenital muscular dystrophy 2006
110.	Original article	Unified method for Bayesian calculation of genetic risk. 2006
111.	Original article	Fukutin expression in mouse non-muscle somatic organs: its relationship to the hypoglycosylation of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy. 2004/10
112.	Original article	Benign Familial Infantile Convulsions: Linkage to Chromosome 16p12-q12 in 14 Families 2004/06
113.	Original article	Cloning of cDNA Encoding a Regeneration-Associated Muscle Protease Whose Expression Is Attenuated in Cell Lines Derived from Duchenne Muscular Dystrophy Patients 2004/05
114.	Original article	Phenotype-Genotype Correlation in Japanese Spinal Muscular Atrophy Patients：Analysis of the SMN Gene 2004/03/01
115.	Original article	Phenotype-Genotype correlation in Japanese spinal muscular atrophy patients: Analysis of DNA and mRNA of the SMN gene 2004/03
116.	Case report	Thalamic lesions in a long-surviving child with spinal muscular atrophy type I: MRI and EEG findings 2004/01
117.	Case report	A 1-year-old infant with McArdle disease associated with hyper-creatine kinase-emia during febrile episodes 2003/09/28
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■ Academic conference presentation

1.	Real-World Revelations: How Risdiplam is Changing SMA Treatment in Japan 2024/07/20
2.	Investigation of the clinical course of SMN2 gene 4-copy cases: In relation to the "4-copy problem" in newborn screening 2023/10/13
3.	Patient registry system for new treatment choice and newborn screening follow-up in spinal muscular atrophy 2023/10/13
4.	Results of comprehensive genomic profiling tests for pancreaticobiliary cancer at our university’s hospital 2023/03/18
5.	A case with Fabry disease who was diagnosed through routine health check-up by the detection of mulberry bodies in urinary sediment was led to the genetic counseling 2020/11/18
6.	Whole exome sequencing for clinically suspected MODY in Japanese 2020/11/18
7.	From the Principal Investigator's Perspective-Focusing on Clinical Trials in Spinal Muscular Atrophy 2020/02/05
8.	Feeding difficulties and gastrointestinal symptoms in patients with spinal muscular atrophy type 2 in Japan 2019/09/20
9.	Progeroid syndrome with focal segmental glomeruloscrelosis due to ZMPSTE24 mutations 2019/06/16
10.	Effect of nusinersen on gross and fine motor -A case of spinal muscular atrophy type 1- 2019/06/01
11.	Pain prevalence and characteristics in spinal muscular atrophy type 2 2018/11/16
12.	Screening for mutations in 14 kinds of MODY genes in patients with MODY in Japanese by next generation sequencing 2018/10/18
13.	Screening for mutations in 14 kinds of MODY genes in Patients with MODY in Japanese by Next generation sequencing 2018/10/13
14.	Summarization of the efficacy of the supporting project for junior and senior high school girls choosing science course related to the healthcare 2018/03/28
15.	Summative evaluation of 10 years :practical training in nursing for communication skills. 2017/08/19
16.	The efficacy of the outreach education in supporting program for the high school students 2017/08/19
17.	Newly identified mutation in 5'UTR of HNF4A in a case of MODY3 2017/05/20
18.	The gross motor function measure is valid for Fukuyama congenital muscular dystrophy 2017/05/13
19.	Hospital tours in support program for the junior and senior high school girls choosing the faculty related to medical science 2017/03/26
20.	The efficacy of the collaborative learning concerning the drug-induced disasters 2016/07/30
21.	Natural history of motor function changes in childhood-onset spinal muscular atrophy 2016/04/05
22.	Prevalence of MODY subtype and clinical characteristics in patients with early onset diabetes in Japanese 2016/04/05
23.	Target resequencing of neuromuscular disease-relared genes using next-generation sequencing for atients with undiagnosed early-onset neuromuscular disorders 2016/04/05
24.	Effects of a Multi-layered education in support program for female students choo sing science courses : College students teaching junior high and high school stud ents 2016/03/27
25.	A novel connexin 45 mutation responsible for cardiac conduction disturbance demonstrated by next generation sequencing and recapitulated by conditional knockout mice 2016/03/18
26.	A novel evaluation method of survival motor neuron protein a biomaraker of spinal muscular atrophy. 2015/10/01
27.	Consideration of teh factors affectingthe decision about wheather or not to have NIPT 2015/06/27
28.	Effectiveness of levetiracetam for seizures in patients with Fukuyama congenital muscular dystrophy 2014/10/09
29.	Natural history of motor function in patients with Fukuyama congenital muscular dystrophy 2014/10/09
30.	Renal dysfunction in patients with Fukuyama congenital muscular dystrophy 2014/10/09
31.	Skeletal muscle MRI in an X-linked myotubular myopathy patient who became ambulatory 2014/10/07
32.	Changes and accelerating factors of the will to become doctors of the medical students 2014/07/19
33.	Chronic respiratory failure in patients with Fukuyama congenital muscular dystrophy 2013/10/02
34.	The development of the education on attitudes for the first-year students, 'Proper Behavior of the Medical Students' 2012/07/27
35.	Volunteer experience in hospital related facility : Improvement of sense of fulfillment 2011/07/23
36.	Introduction to Clinical Interview: Role-play Practice as a Patient for 2nd Year Students 2011/07/22
37.	Up-regulation of innate immunity triggered by avirulent bacteria could be a possible pathogenesis of primary biliary cirrhosis 2011/03
38.	MyoD1-transduced placental MSCs:The feasible therapy of neoromoscular disorders. 2010/10/21
39.	Clinical and electroencephalographic analysis in patients with Fukuyama congenital muscular dystrophy 2010/10/12
40.	Introductory training for collaborative treatment as part of Human Relations Education 2010/07
41.	Achievement of learning objectives using portfolio in the Human Relations, humanity education curriculum 2008/07/26
42.	Fukuyama congenital muscular dystrophy: Rhabdomyolysis induced by viral infection. 2007/12/15
43.	The effect of corticosteroid and gentamicin administation to cultured muscle cells from a Duchenne muscular dystrophy patient 2004/11
44.	A case of juvenile dermatomyositis concurrent with Charcot-Marie-Tooth disease 2004/09/01
45.	Clinical application of DNA technology in the neuromuscular disorders 2004/07/28
46.	Clinical and psychosoial problems of a Duchenne muscular dystrophy carrier 2004/07
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■ Social activities

1.	2023/10～2023/10	Oral Session 3 「Inherited Metabolic Diseases and Newborn Screening」　座長（日本人類遺伝学会第68回大会（Human Genetics Asia 2023 合同開催））
2.	2020/08	「患者さん・家族と考える、最適な脊髄性筋萎縮症治療」第62回日本小児神経学会学術集会共催シンポジウム座長

■ Committee memberships

2020/06/16～2022/06

Association for the Promotion of Research Integrity

■ Research areas

Medical biochemistry, Embryonic medicine and pediatrics, Neurology

■ Awards & honors

2022/12

Japan Society of Human Genetics The Contribution Award of the Japan Society of Human Genetics

■ Academic society memberships

1.		Japan Pediatric Society
2.		Japan Society for Medical Education
3.		Japanese Society for Genetic Counseling
4.		The Japan Society of Human Genetics
5.		The Japan Society of Pediatric Genetics
6.		The Japanese Society of Child Neurology
7.	1997/04～	The Japanese Society for Gene Diagnosis and Therapy
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■ Education

1976/04～1980/03

〔Doctoral course〕 Pediatrics, Graduate School, Division of Medicine, Tokyo Women's Medical University, Completed,

■ Academic & professional experience

1.	2017/12～	Tokyo Women's Medical University Institute of Medical Genetics Professor of Special Appointment
2.	2017/12～2020/07	Tokyo Women's Medical University Institute of Clinical Genomics Director in General
3.	2017/04～	Professor Emeritus
4.	2016/05～	Vice President
5.	2004/05～	Tokyo Women's Medical University Institute of Medical Genetics Director in General
6.	2004/05～	Institute of Medical Genetics Professor
7.	1999/03～2004/04	Tokyo Women's Medical University Department of Pediatrics Professor
8.	1994/06～1999/02	Tokyo Women's Medical University Department of Pediatrics Associate Professor
9.	1986/10～1994/05	Tokyo Women's Medical University Department of Pediatrics Lecturer
10.	1980/04～1986/09	Tokyo Women's Medical University Department of Pediatrics Assistant Professor
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