Research Output per year
Research Output 1990 2019
- 1 - 50 out of 266 results
- Publication Year, Title (descending)
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 journal › Article
Open Access
Cleft Lip
Cleft Palate
Exons
Mutation
Autistic Disorder
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 journal › Article
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 journal › Article
Open Access
Megalencephaly
Phosphoric Monoester Hydrolases
Multiple Hamartoma Syndrome
Mutation
Tumors
Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate (Journal of Human Genetics, (2017), 62, 9, (861-863), 10.1038/jhg.2017.53)
Kato, K., Miya, F., Hori, I., Ieda, D., Ohashi, K., Negishi, Y., Hattori, A., Okamoto, N., Kato, M., Tsunoda, T., Yamasaki, M., Kanemura, Y., Kosaki, K. & Saitoh, S., 2019 Jan 1, In : Journal of Human Genetics.Research output: Contribution to journal › Comment/debate
Open Access
Periventricular Nodular Heterotopia
Medical Genetics
Cleft Palate
Missense Mutation
Mutation
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.e9Research output: Contribution to journal › Article
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 journal › Article
Phenotype
Carbon
Genes
Intellectual Disability
Micrognathism
CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features
Uehara, T., Tsuchihashi, T., Yamada, M., Suzuki, H., Takenouchi, T. & Kosaki, K., 2019 Jan 1, (Accepted/In press) In : American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Letter
Haploinsufficiency
Neurodevelopmental Disorders
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 journal › Article
Open Access
N-Ethylmaleimide-Sensitive Proteins
Brain Diseases
Mutation
Transport Vesicles
Drosophila
Effectiveness of integrated interpretation of exome and corresponding transcriptome data for detecting splicing variants of genes associated with autosomal recessive disorders
Yamada, M., Suzuki, H., Shiraishi, Y. & Kosaki, K., 2019 Dec, In : Molecular Genetics and Metabolism Reports. 21, 100531.Research output: Contribution to journal › Article
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 journal › Article
Lymphocyte Transfusion
DiGeorge Syndrome
Epstein-Barr Virus Infections
Blood Transfusion
Immunity
2
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 journal › Article
Japan
Down Syndrome
Learning
Newborn Infant
7
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, , 2019 Feb 1, In : Journal of biochemistry. 165, 2, p. 139-158 20 p.Research output: Contribution to journal › Article
Genes
Genome
Delivery of Health Care
Metagenomics
Polymorphism
IFT172 as the 19th gene causative of oral-facial-digital syndrome
Yamada, M., Uehara, T., Suzuki, H., Takenouchi, T., Fukushima, H., Morisada, N., Tominaga, K., Onoda, M. & Kosaki, K., 2019 Jan 1, (Accepted/In press) In : American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Letter
Orofaciodigital Syndromes
Genes
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 journal › Article
Neuroaxonal Dystrophies
Atrophy
Siblings
Muscle Hypotonia
Phenotype
1
Citation
(Scopus)
Medical genetics and genomic medicine in Japan
Suzuki, H., Watanabe, T., Uehara, T. & Kosaki, K., 2019 Jun 1, In : American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 181, 2, p. 166-169 4 p.Research output: Contribution to journal › Review article
Medical Genetics
Rare Diseases
Japan
Medicine
Federal Government
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 journal › Article
Open Access
Polyps
Mutation
Genes
Adenomyoma
Laser Capture Microdissection
Noninvasive diagnosis of TRIT1-related mitochondrial disorder by measuring i6A37 and ms2i6A37 modifications in tRNAs from blood and urine samples
Takenouchi, T., Wei, F. Y., Suzuki, H., Uehara, T., Takahashi, T., Okazaki, Y., Kosaki, K. & Tomizawa, K., 2019 Jan 1, In : American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article
Mitochondrial Diseases
Isopentenyladenosine
Transfer RNA
Urine
Myoclonic Epilepsy
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 journal › Article
Open Access
Caenorhabditis elegans
Electron Microscopy
Blood Platelets
Intellectual Disability
Deafness
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, , 2019 Jan 1, (Accepted/In press) In : Journal of Heart and Lung Transplantation.Research output: Contribution to journal › Article
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 journal › Article
Epilepsy
Mutation
Language Development Disorders
Electroencephalography
Accidental Falls
1
Citation
(Scopus)
SATB2-associated syndrome in patients from Japan: Linguistic profiles
Yamada, M., Uehara, T., Suzuki, H., Takenouchi, T., Yoshihashi, H., Suzumura, H., Mizuno, S. & Kosaki, K., 2019 Jan 1, In : American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Review article
Open Access
Linguistics
Japan
Cleft Palate
Diastema
DiGeorge Syndrome
Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers
Suzuki, H., Takenouchi, T., Uehara, T., Takasago, S., Ihara, S., Yoshihashi, H. & Kosaki, K., 2019 Jan 1, In : American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article
Noonan Syndrome
Phenotype
Genes
Neoplasms
Megalencephaly
Sweat retention anhidrosis associated with tubular aggregate myopathy
Ishitsuka, Y., Inoue, S., Furuta, J., Koguchi-Yoshioka, H., Nakamura, Y., Watanabe, R., Okiyama, N., Fujisawa, Y., Enokizono, T., Fukushima, H., Suzuki, H., Nishino, I., Kosaki, K. & Fujimoto, M., 2019 Jan 1, (Accepted/In press) In : British Journal of Dermatology.Research output: Contribution to journal › Letter
Congenital Structural Myopathies
Hypohidrosis
Sweat
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 journal › Article
Craniosynostoses
Hypertelorism
Haploinsufficiency
Cheek
Amino Acid Substitution
1
Citation
(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 journal › Article
Microcephaly
Missense Mutation
Mutation
Ribosomal Protein S6
Exome
A paradoxical thrombogenic mutation in factor II at the target site of arthropod bleeding toxin
Takenouchi, T., Shimada, H., Uehara, T., Kanai, Y., Takahashi, T. & Kosaki, K., 2018 Jan 1, (Accepted/In press) In : European Journal of Medical Genetics.Research output: Contribution to journal › Article
Arthropods
Prothrombin
Thrombin
Hemorrhage
Mutation
16
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 journal › Article
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, , 2018 Jan 1, In : Journal of Arrhythmia. 34, 4, p. 465-468 4 p.Research output: Contribution to journal › Article
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 journal › Article
Phenotype
Mutation
Chronic Kidney Failure
Kidney
Cysts
Further evidence of a causal association between AGO1, a critical regulator of microRNA formation, and intellectual disability/autism spectrum disorder
Sakaguchi, A., Yamashita, Y., Ishii, T., Uehara, T., Kosaki, K., Takahashi, T. & Takenouchi, T., 2018 Jan 1, (Accepted/In press) In : European Journal of Medical Genetics.Research output: Contribution to journal › Article
MicroRNAs
Intellectual Disability
Nose
Globus Pallidus
Mutation
1
Citation
(Scopus)
Genomic Comparison With Supercentenarians Identifies RNF213 as a Risk Gene for Pulmonary Arterial Hypertension
Suzuki, H., Kataoka, M., Hiraide, T., Aimi, Y., Yamada, Y., Katsumata, Y., Chiba, T., Kanekura, K., Isobe, S., Sato, Y., Satoh, T., Gamou, S., Fukuda, K. & Kosaki, K., 2018 Dec 1, In : Circulation. Genomic and precision medicine. 11, 12, p. e002317Research output: Contribution to journal › Letter
Bone Morphogenetic Protein Receptors
Ubiquitin-Protein Ligases
Pedigree
Genetic Predisposition to Disease
Genomics
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 journal › Article
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 journal › Article
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 journal › Article
Exome
DNA Sequence Analysis
Genes
Large number of cutaneous neurofibromas beyond age-appropriate incidence in a patient with a large deletion of NF1
Yoshida, Y., Ehara, Y., Kosaki, K. & Yamamoto, O., 2018 Mar 1, In : Journal of Dermatology. 45, 3, p. 363-364 2 p.Research output: Contribution to journal › Comment/debate
Neurofibroma
Skin
Incidence
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 journal › Article
Megalencephaly
Mutation
Polydactyly
Genes
Stem Cells
Publisher Correction: IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis (Scientific Reports (2018) DOI: 10.1038/s41598-018-23978-z)
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, 10367.Research output: Contribution to journal › Comment/debate
Nucleic Acid Repetitive Sequences
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 journal › Article
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 journal › Article
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, , 2018 Sep 1, In : Journal of the American Heart Association. 7, 18, e009387.Research output: Contribution to journal › Article
Brugada Syndrome
Sick Sinus Syndrome
Mutation
Sudden Death
Inheritance Patterns
2
Citations
(Scopus)
SOX17 mutations in Japanese patients with pulmonary arterial hypertension
Hiraide, T., Kataoka, M., Suzuki, H., Aimi, Y., Chiba, T., Kanekura, K., Satoh, T., Fukuda, K., Gamou, S. & Kosaki, K., 2018 Nov 1, In : American Journal of Respiratory and Critical Care Medicine. 198, 9, p. 1231-1233 3 p.Research output: Contribution to journal › Letter
Pulmonary Hypertension
Mutation
1
Citation
(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.e8Research output: Contribution to journal › Article
Mulibrey Nanism
Pericardiectomy
Constrictive Pericarditis
Multiple Organ Failure
Pericardium
3
Citations
(Scopus)
Systemic lupus erythematosus in a patient with Noonan syndrome-like disorder with loose anagen hair 1: More than a chance association
Uehara, T., Hosogaya, N., Matsuo, N. & Kosaki, K., 2018 Jul 1, In : American Journal of Medical Genetics, Part A. 176, 7, p. 1662-1666 5 p.Research output: Contribution to journal › Article
Systemic Lupus Erythematosus
Exome
Fever of Unknown Origin
Butterflies
Noonan-Like Syndrome With Loose Anagen Hair
1
Citation
(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 journal › Article
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 journal › Article
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 journal › Article
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 journal › Article
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 journal › Article
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 journal › Article
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, , 2017 Jan 13, In : BMC Medical Genetics. 18, 1, 4.Research output: Contribution to journal › Article
Megalencephaly
Phosphatidylinositol 3-Kinases
Molecular Biology
S 6
Mutation