Research Output 1990 2020

Filter
Article
2020

Blended phenotype of AP4E1 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15

Murakami, H., Uehara, T., Tsurusaki, Y., Enomoto, Y., Kuroda, Y., Aida, N., Kosaki, K. & Kurosawa, K., 2020 Jan 1, (Accepted/In press) In : Brain and Development.

Research output: Contribution to journalArticle

Angelman Syndrome
Uniparental Disomy
Exome
Chromosomes, Human, Pair 15
Phenotype

Familial hemiplegic migraine with a PRRT2 mutation: Phenotypic variations and carbamazepine efficacy

Suzuki-Muromoto, S., Kosaki, R., Kosaki, K. & Kubota, M., 2020 Jan 1, (Accepted/In press) In : Brain and Development.

Research output: Contribution to journalArticle

Migraine with Aura
Carbamazepine
Mutation
Spontaneous Remission
Therapeutics

Improvement of opsoclonus after congenital cataract surgery in an infant

Yamaguchi, H., Morisada, N., Maruyama, A., Kosaki, K. & Nomura, K., 2020 Jan 1, In : Pediatrics International. 62, 1, p. 108-109 2 p.

Research output: Contribution to journalArticle

Mexiletine shortens the QT interval in a pedigree of KCNH2 related long QT syndrome

Fujisawa, T., Aizawa, Y., Katsumata, Y., Kimura, K., Hashimoto, K., Yamashita, T., Miyama, H., Kimura, T., Kosaki, K., Takatsuki, S., Shimizu, W. & Fukuda, K., 2020 Jan 1, (Accepted/In press) In : journal of arrhythmia.

Research output: Contribution to journalArticle

Open Access
Mexiletine
Long QT Syndrome
Syncope
Pedigree
Torsades de Pointes

The Undiagnosed Diseases Network International: Five years and more!

Taruscio, D., Baynam, G., Cederroth, H., Groft, S. C., Klee, E. W., Kosaki, K., Lasko, P., Melegh, B., Riess, O., Salvatore, M. & Gahl, W. A., 2020 Jan 1, (Accepted/In press) In : Molecular Genetics and Metabolism.

Research output: Contribution to journalArticle

Rare Diseases
Research
Patient Participation
Foster Home Care
Biomedical Research
2019

A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2

Saeki, S., Enokizono, T., Imagawa, K., Fukushima, H., Kajikawa, D., Sakai, A., Tanaka, M., Ohto, T., Suzuki, H., Uehara, T., Takenouchi, T., Kenjiro, K. & Takada, H., 2019 Jan 1, (Accepted/In press) In : Clinical Case Reports.

Research output: Contribution to journalArticle

Open Access
Cleft Lip
Cleft Palate
Exons
Mutation
Autistic Disorder

A case of familial episodic pain syndrome with SCN11A mutation treated prophylactically with sodium channel blockers

Tanaka, F., Goto, T., Ogawa, E., Moriyama, S., Ito, A., Kurosawa, K. & Kosaki, K., 2019 Jan 1, In : No To Hattatsu. 51, 4, p. 266-270 5 p.

Research output: Contribution to journalArticle

Sodium Channel Blockers
Pain
Mutation
Somatoform Disorders
Fathers

Acromegaly caused by a somatotroph adenoma in patient with neurofibromatosis type 1

Hozumi, K., Fukuoka, H., Odake, Y., Takeuchi, T., Uehara, T., Sato, T., Inoshita, N., Yoshida, K., Matsumoto, R., Bando, H., Hirota, Y., Iguchi, G., Taniguchi, M., Otsuki, N., Nishigori, C., Kosaki, K., Hasegawa, T., Ogawa, W. & Takahashi, Y., 2019 Jan 1, In : Endocrine journal. 66, 10, p. 853-857 5 p.

Research output: Contribution to journalArticle

Open Access
Growth Hormone-Secreting Pituitary Adenoma
Neurofibromatosis 1
Acromegaly
Neurofibromatosis 1 Genes
Follicular Adenocarcinoma

A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay

Ueno, Y., Enokizono, T., Fukushima, H., Ohto, T., Imagawa, K., Tanaka, M., Sakai, A., Suzuki, H., Uehara, T., Takenouchi, T., Kosaki, K. & Takada, H., 2019 Dec 1, In : Human Genome Variation. 6, 1, 25.

Research output: Contribution to journalArticle

Open Access
Megalencephaly
Phosphoric Monoester Hydrolases
Multiple Hamartoma Syndrome
Mutation
Tumors
2 Citations (Scopus)

Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes

Kubo, A., Sasaki, T., Suzuki, H., Shiohama, A., Aoki, S., Sato, S., Fujita, H., Ono, N., Umegaki-Arao, N., Kawai, T., Nakabayashi, K., Hata, K., Yamada, D., Matsubara, Y., Kosaki, K. & Amagai, M., 2019 Dec, In : Journal of Investigative Dermatology. 139, 12, p. 2458-2466.e9

Research output: Contribution to journalArticle

Open Access
Porokeratosis
Heterozygote
Genetic Recombination
Skin
Genes
1 Citation (Scopus)

CNOT2 as the critical gene for phenotypes of 12q15 microdeletion syndrome

Uehara, T., Takenouchi, T., Yamaguchi, Y., Daimon, Y., Suzuki, H., Sakaguchi, Y. & Kosaki, K., 2019 Jan 1, In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Phenotype
Carbon
Genes
Intellectual Disability
Micrognathism

De novo NSF mutations cause early infantile epileptic encephalopathy

Suzuki, H., Yoshida, T., Morisada, N., Uehara, T., Kosaki, K., Sato, K., Matsubara, K., Takano-Shimizu, T. & Takenouchi, T., 2019 Nov 1, In : Annals of Clinical and Translational Neurology. 6, 11, p. 2334-2339 6 p.

Research output: Contribution to journalArticle

Open Access
N-Ethylmaleimide-Sensitive Proteins
Brain Diseases
Mutation
Transport Vesicles
Drosophila
Open Access
Exome
Transcriptome
Genes
RNA Splice Sites
Frameshift Mutation

Establishment of immunity against Epstein-Barr virus infection in a patient with CHARGE/complete DiGeorge syndrome after peripheral blood lymphocyte transfusion

Hosaka, S., Kobayashi, C., Saito, H., Imai-Saito, A., Suzuki, R., Iwabuchi, A., Kato, Y., Jimbo, T., Watanabe, N., Onodera, M., Imadome, K. I., Masumoto, K., Nanmoku, T., Fukushima, T., Kosaki, K., Sumazaki, R. & Takada, H., 2019 Jan 1, In : Pediatric Transplantation. e13424.

Research output: Contribution to journalArticle

Lymphocyte Transfusion
DiGeorge Syndrome
Epstein-Barr Virus Infections
Blood Transfusion
Immunity
4 Citations (Scopus)

Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan

Mishima, H., Suzuki, H., Doi, M., Miyazaki, M., Watanabe, S., Matsumoto, T., Morifuji, K., Moriuchi, H., Yoshiura, K. I., Kondoh, T. & Kosaki, K., 2019 Aug 1, In : Journal of Human Genetics. 64, 8, p. 789-794 6 p.

Research output: Contribution to journalArticle

Japan
Down Syndrome
Learning
Newborn Infant
8 Citations (Scopus)

Genome analyses for the Tohoku Medical Megabank Project towards establishment of personalized healthcare

Yasuda, J., Kinoshita, K., Katsuoka, F., Danjoh, I., Sakurai-Yageta, M., Motoike, I. N., Kuroki, Y., Saito, S., Kojima, K., Shirota, M., Saigusa, D., Otsuki, A., Kawashima, J., Yamaguchi-Kabata, Y., Tadaka, S., Aoki, Y., Mimori, T., Kumada, K., Inoue, J., Makino, S. & 31 others, Kuriki, M., Fuse, N., Koshiba, S., Tanabe, O., Nagasaki, M., Tamiya, G., Shimizu, R., Takai-Igarashi, T., Ogishima, S., Hozawa, A., Kuriyama, S., Sugawara, J., Tsuboi, A., Kiyomoto, H., Ishii, T., Tomita, H., Minegishi, N., Suzuki, Y., Suzuki, K., Kawame, H., Tanaka, H., Taki, Y., Yaegashi, N., Kure, S., Nagami, F., Kosaki, K., Sutoh, Y., Hachiya, T., Shimizu, A., Sasaki, M. & Yamamoto, M., 2019 Feb 1, In : Journal of biochemistry. 165, 2, p. 139-158 20 p.

Research output: Contribution to journalArticle

Genes
Genome
Delivery of Health Care
Metagenomics
Polymorphism
Hereditary Spastic Paraplegia
Mosaicism
Neurocutaneous Syndromes
Skin
Mutation

Infantile neuroaxonal dystrophy in a pair of Malaysian siblings with progressive cerebellar atrophy: Description of an expanded phenotype with novel PLA2A6 variants

Li, L., Fong, C. Y., Tay, C. G., Tae, S. K., Suzuki, H., Kosaki, K. & Thong, M. K., 2019 Jan 1, (Accepted/In press) In : Journal of Clinical Neuroscience.

Research output: Contribution to journalArticle

Neuroaxonal Dystrophies
Atrophy
Siblings
Muscle Hypotonia
Phenotype
Platelet-Derived Growth Factor beta Receptor
Myofibroma
Genetic Databases
Arachnoid Cysts
Induced Pluripotent Stem Cells

MGeND: an integrated database for Japanese clinical and genomic information

Kamada, M., Nakatsui, M., Kojima, R., Nohara, S., Uchino, E., Tanishima, S., Sugiyama, M., Kosaki, K., Tokunaga, K., Mizokami, M. & Okuno, Y., 2019 Dec 1, In : Human Genome Variation. 6, 1, 53.

Research output: Contribution to journalArticle

Open Access
Genomics
Japan
Genome-Wide Association Study
Databases
Disease Susceptibility

Mutations of RAS genes in endometrial polyps

Takeda, T., Banno, K., Kobayashi, Y., Adachi, M., Yanokura, M., Tominaga, E., Kosaki, K. & Aoki, D., 2019 Jan 1, In : Oncology reports. 42, 6, p. 2303-2308 6 p.

Research output: Contribution to journalArticle

Open Access
Polyps
Mutation
Genes
Adenomyoma
Laser Capture Microdissection
Mitochondrial Diseases
Isopentenyladenosine
Transfer RNA
Urine
Myoclonic Epilepsy
1 Citation (Scopus)

Pathogenetic basis of Takenouchi-Kosaki syndrome: Electron microscopy study using platelets in patients and functional studies in a Caenorhabditis elegans model

Uehara, T., Suzuki, H., Okamoto, N., Kondoh, T., Ahmad, A., O’Connor, B. C., Yoshina, S., Mitani, S., Kosaki, K. & Takenouchi, T., 2019 Dec 1, In : Scientific reports. 9, 1, 4418.

Research output: Contribution to journalArticle

Open Access
Caenorhabditis elegans
Electron Microscopy
Blood Platelets
Intellectual Disability
Deafness
1 Citation (Scopus)

Poor outcomes in carriers of the RNF213 variant (p.Arg4810Lys) with pulmonary arterial hypertension

Hiraide, T., Kataoka, M., Suzuki, H., Aimi, Y., Chiba, T., Isobe, S., Katsumata, Y., Goto, S., Kanekura, K., Yamada, Y., Moriyama, H., Kitakata, H., Endo, J., Yuasa, S., Arai, Y., Hirose, N., Satoh, T., Hakamata, Y., Sano, M., Gamou, S. & 2 others, Kosaki, K. & Fukuda, K., 2019 Jan 1, (Accepted/In press) In : Journal of Heart and Lung Transplantation.

Research output: Contribution to journalArticle

Pulmonary Hypertension
Lung Transplantation
Bone and Bones
Proteins
Exome

Refractory epilepsy and regression in a patient with a de novo heterozygous POGZ mutation

Yamagata, S., Hattori, A., Miya, F., Kubota, Y., Endo, T., Negishi, Y., Nakamura, Y., Tsunoda, T., Kosaki, K. & Saitoh, S., 2019 Jan 1, In : No To Hattatsu. 51, 1, p. 29-32 4 p.

Research output: Contribution to journalArticle

Epilepsy
Mutation
Language Development Disorders
Electroencephalography
Accidental Falls
Noonan Syndrome
Phenotype
Genes
Neoplasms
Megalencephaly
2018

Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution

Takenouchi, T., Sakamoto, Y., Sato, H., Suzuki, H., Uehara, T., Ohsone, Y. & Kosaki, K., 2018 Jan 1, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Craniosynostoses
Hypertelorism
Haploinsufficiency
Cheek
Amino Acid Substitution
2 Citations (Scopus)

A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome

Hori, I., Miya, F., Negishi, Y., Hattori, A., Ando, N., Boroevich, K. A., Okamoto, N., Kato, M., Tsunoda, T., Yamasaki, M., Kanemura, Y., Kosaki, K. & Saitoh, S., 2018 Jun 15, (Accepted/In press) In : Journal of Human Genetics. p. 1-7 7 p.

Research output: Contribution to journalArticle

Microcephaly
Missense Mutation
Mutation
Ribosomal Protein S6
Exome
1 Citation (Scopus)
Arthropods
Prothrombin
Thrombin
Hemorrhage
Mutation
19 Citations (Scopus)

Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese

Okada, Y., Momozawa, Y., Sakaue, S., Kanai, M., Ishigaki, K., Akiyama, M., Kishikawa, T., Arai, Y., Sasaki, T., Kosaki, K., Suematsu, M., Matsuda, K., Yamamoto, K., Kubo, M., Hirose, N. & Kamatani, Y., 2018 Dec 1, In : Nature Communications. 9, 1, 1631.

Research output: Contribution to journalArticle

sequencing
genome
Genes
Genetic Selection
signatures

Development of monomorphic ventricular tachycardia in a patient with fever-induced Brugada syndrome

Sato, Y., Aizawa, Y., Fujisawa, T., Ito, S., Katano, K., Fuse, N., Miyabe, A., Osada, K., Ishihara, R., Tosaka, A., Tamamura, T., Mizumura, T., Sugimura, Y., Nakajima, K., Katsumata, Y., Nishiyama, T., Kimura, T., Furukawa, Y., Takatsuki, S., Kosaki, K. & 1 others, Fukuda, K., 2018 Jan 1, In : Journal of Arrhythmia. 34, 4, p. 465-468 4 p.

Research output: Contribution to journalArticle

Brugada Syndrome
Ventricular Tachycardia
Cardiac Arrhythmias
Fever
Secondary Prevention
1 Citation (Scopus)

Expanding Phenotype of Nephronophthisis-Related Ciliopathy: an Elderly Patient with Homozygous RPGRIP1L Mutation

Kawaguchi, T., Yoshida, T., Hirahashi, J., Uehara, T., Takenouchi, T., Kosaki, K., Itoh, H. & Hayashi, M., 2018 Jul 10, (Accepted/In press) In : Nephron. p. 1-5 5 p.

Research output: Contribution to journalArticle

Phenotype
Mutation
Chronic Kidney Failure
Kidney
Cysts
MicroRNAs
Intellectual Disability
Nose
Globus Pallidus
Mutation
2 Citations (Scopus)

Growth pattern of Rahman syndrome

Takenouchi, T., Uehara, T., Kosaki, K. & Mizuno, S., 2018 Mar 1, In : American Journal of Medical Genetics, Part A. 176, 3, p. 712-714 3 p.

Research output: Contribution to journalArticle

Growth
Intellectual Disability
Sotos Syndrome
Zygoma
Exome

Haploinsufficiency of NCOR1 associated with autism spectrum disorder, scoliosis, and abnormal palatogenesis

Sakaguchi, Y., Uehara, T., Suzuki, H., Sakamoto, Y., Fujiwara, M., Kosaki, K. & Takenouchi, T., 2018 Jan 1, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Haploinsufficiency
Co-Repressor Proteins
Scoliosis
Mutation
Uvula
2 Citations (Scopus)

IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis

Shigemizu, D., Miya, F., Akiyama, S., Okuda, S., Boroevich, K. A., Fujimoto, A., Nakagawa, H., Ozaki, K., Niida, S., Kanemura, Y., Okamoto, N., Saitoh, S., Kato, M., Yamasaki, M., Matsunaga, T., Mutai, H., Kosaki, K. & Tsunoda, T., 2018 Dec 1, In : Scientific Reports. 8, 1, 5608.

Research output: Contribution to journalArticle

Exome
DNA Sequence Analysis
Genes

MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome

Kato, K., Miya, F., Hamada, N., Negishi, Y., Narumi-Kishimoto, Y., Ozawa, H., Ito, H., Hori, I., Hattori, A., Okamoto, N., Kato, M., Tsunoda, T., Kanemura, Y., Kosaki, K., Takahashi, Y., Nagata, K. I. & Saitoh, S., 2018 Jan 1, (Accepted/In press) In : Journal of Medical Genetics.

Research output: Contribution to journalArticle

Megalencephaly
Mutation
Polydactyly
Genes
Stem Cells
2 Citations (Scopus)

Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects

Uehara, T., Takenouchi, T., Kosaki, R., Kurosawa, K., Mizuno, S. & Kosaki, K., 2018 Jan 1, (Accepted/In press) In : European Journal of Medical Genetics.

Research output: Contribution to journalArticle

Exome
Mutation
Heart Diseases
Disabled Children
Nose
1 Citation (Scopus)

Schuurs-Hoeijmakers syndrome in two patients from Japan

Hoshino, Y., Enokizono, T., Imagawa, K., Tanaka, R., Suzuki, H., Fukushima, H., Arai, J., Sumazaki, R., Uehara, T., Takenouchi, T. & Kosaki, K., 2018 Jan 1, (Accepted/In press) In : American Journal of Medical Genetics, Part A. e9.

Research output: Contribution to journalArticle

Japan
Mutation
Constipation
Trihexyphenidyl
Dyskinesias
3 Citations (Scopus)

Sex-dependent phenotypic variability of an SCN5a mutation: Brugada syndrome and sick sinus syndrome

Aizawa, Y., Fujisawa, T., Katsumata, Y., Kosaka, S., Kunitomi, A., Ohno, S., Sonoda, K., Hayashi, H., Hojo, R., Fukamizu, S., Nagase, S., Ito, S., Nakajima, K., Nishiyama, T., Kimura, T., Kurita, Y., Furukawa, Y., Takatsuki, S., Ogawa, S., Nakazato, Y. & 4 others, Sumiyoshi, M., Kosaki, K., Horie, M. & Fukuda, K., 2018 Sep 1, In : Journal of the American Heart Association. 7, 18, e009387.

Research output: Contribution to journalArticle

Brugada Syndrome
Sick Sinus Syndrome
Mutation
Sudden Death
Inheritance Patterns
2 Citations (Scopus)

Successful Total Pericardiectomy for Constrictive Pericarditis in the First Series of Japanese Patients With Mulibrey Nanism

Yasuhara, J., Omori, S., Maeda, J., Nakagawa, N., Kamada, M., Kosaki, K., Aeba, R. & Yamagishi, H., 2018 May 1, In : Canadian Journal of Cardiology. 34, 5, p. 690.e5-690.e8

Research output: Contribution to journalArticle

Mulibrey Nanism
Pericardiectomy
Constrictive Pericarditis
Multiple Organ Failure
Pericardium
3 Citations (Scopus)
Systemic Lupus Erythematosus
Exome
Fever of Unknown Origin
Butterflies
Noonan-Like Syndrome With Loose Anagen Hair
3 Citations (Scopus)

Targeted reversion of induced pluripotent stem cells from patients with human cleidocranial dysplasia improves bone regeneration in a rat calvarial bone defect model

Saito, A., Ooki, A., Nakamura, T., Onodera, S., Hayashi, K., Hasegawa, D., Okudaira, T., Watanabe, K., Kato, H., Onda, T., Watanabe, A., Kosaki, K., Nishimura, K., Ohtaka, M., Nakanishi, M., Sakamoto, T., Yamaguchi, A., Sueishi, K. & Azuma, T., 2018 Jan 22, In : Stem Cell Research and Therapy. 9, 1, 12.

Research output: Contribution to journalArticle

Cleidocranial Dysplasia
Induced Pluripotent Stem Cells
Bone Regeneration
Stem cells
Rats
1 Citation (Scopus)

The Rare Disease Bank of Japan: establishment, current status and future challenges

Tada, M., Hirata, M., Sasaki, M., Sakate, R., Kohara, A., Takahashi, I., Kameoka, Y., Masui, T. & Matsuyama, A., 2018 Apr 2, (Accepted/In press) In : Human Cell. p. 1-6 6 p.

Research output: Contribution to journalArticle

Rare Diseases
Japan
Research
HLA Antigens
Plasma Cells

Three patients with DeSanto-Shinawi syndrome: Further phenotypic delineation

Uehara, T., Ishige, T., Hattori, S., Yoshihashi, H., Funato, M., Yamaguchi, Y., Takenouchi, T. & Kosaki, K., 2018 Jan 1, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Intellectual Disability
Hematologic Neoplasms
Nonsense Mediated mRNA Decay
Alleles
Haploinsufficiency
3 Citations (Scopus)

Timothy syndrome-like condition with syndactyly but without prolongation of the QT interval

Kosaki, R., Ono, H., Terashima, H. & Kosaki, K., 2018 Jan 1, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Syndactyly
Mutation
Genes
Exome
Skin
4 Citations (Scopus)

Tranilast inhibits the expression of genes related to epithelial-mesenchymal transition and angiogenesis in neurofibromin-deficient cells

Harigai, R., Sakai, S., Nobusue, H., Hirose, C., Sampetrean, O., Minami, N., Hata, Y., Kasama, T., Hirose, T., Takenouchi, T., Kosaki, K., Kishi, K., Saya, H. & Arima, Y., 2018 Dec 1, In : Scientific Reports. 8, 1, 6069.

Research output: Contribution to journalArticle

Neurofibromin 1
Neurofibromatosis 1
Epithelial-Mesenchymal Transition
Neurofibroma
Gene Expression

Wilms tumor and congenital malformation syndromes

Uehara, T. & Kosaki, K., 2018 Oct 1, In : Japanese Journal of Clinical Urology. 72, 11, p. 924-926 3 p.

Research output: Contribution to journalArticle

Wilms Tumor
2017
10 Citations (Scopus)

A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly

Negishi, Y., Miya, F., Hattori, A., Johmura, Y., Nakagawa, M., Ando, N., Hori, I., Togawa, T., Aoyama, K., Ohashi, K., Fukumura, S., Mizuno, S., Umemura, A., Kishimoto, Y., Okamoto, N., Kato, M., Tsunoda, T., Yamasaki, M., Kanemura, Y., Kosaki, K. & 2 others, Nakanishi, M. & Saitoh, S., 2017 Jan 13, In : BMC Medical Genetics. 18, 1, 4.

Research output: Contribution to journalArticle

Megalencephaly
Phosphatidylinositol 3-Kinases
Molecular Biology
S 6
Mutation
15 Citations (Scopus)
Acute Myeloid Leukemia
Mutation
Methyltransferases
DNA
Umbilical Hernia