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20092019
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Research Output 2009 2019

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Article
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
Pulmonary Veno-Occlusive Disease
Hepatic Veno-Occlusive Disease
Hematopoietic Stem Cell Transplantation
Neuroblastoma
Drug Therapy

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
1 Citation (Scopus)

Body Temperature, Heart Rate, and Short-Term Outcome of Cooled Infants

Tsuda, K., Iwata, S., Mukai, T., Shibasaki, J., Takeuchi, A., Ioroi, T., Sano, H., Yutaka, N., Takahashi, A., Takenouchi, T., Osaga, S., Tokuhisa, T., Takashima, S., Sobajima, H., Tamura, M., Hosono, S., Nabetani, M. & Iwata, O., 2019 Mar 1, In : Therapeutic Hypothermia and Temperature Management. 9, 1, p. 76-85 10 p.

Research output: Contribution to journalArticle

Open Access
Body Temperature
Heart Rate
Induced Hypothermia
Apgar Score
Brain Diseases
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
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 journalArticle

Open Access
Caenorhabditis elegans
Electron Microscopy
Blood Platelets
Intellectual Disability
Deafness
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
Arthropods
Prothrombin
Thrombin
Hemorrhage
Mutation
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)

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

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
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
2017

A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak

Ohto, T., Enokizono, T., Tanaka, R., Tanaka, M., Suzuki, H., Sakai, A., Imagawa, K., Fukushima, H., Fukushima, T., Sumazaki, R., Uehara, T., Takenouchi, T. & Kosaki, K., 2017 Aug 10, In : Human Genome Variation. 4, 17033.

Research output: Contribution to journalArticle

Open Access
Bardet-Biedl Syndrome
Bulletin boards
Disease Outbreaks
Genes
Mutation
4 Citations (Scopus)

Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1

Takenouchi, T., Inaba, M., Uehara, T., Takahashi, T., Kosaki, K. & Mizuno, S., 2017 Jan 1, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Mutation
Muscle Hypotonia
Dyspnea
Sleep
Uniparental Disomy

Cover Image, Volume 173A, Number 5, May 2017

Takenouchi, T., Kuchikata, T., Yoshihashi, H., Fujiwara, M., Uehara, T., Miyama, S., Yamada, S. & Kosaki, K., 2017 May 1, In : American journal of medical genetics. Part A. 173, 5, p. i

Research output: Contribution to journalArticle

Retroelements
Phenotype
Ciliopathies
2 Citations (Scopus)

Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype

Takenouchi, T., Kuchikata, T., Yoshihashi, H., Fujiwara, M., Uehara, T., Miyama, S., Yamada, S. & Kosaki, K., 2017 May 1, In : American Journal of Medical Genetics, Part A. 173, 5, p. 1353-1357 5 p.

Research output: Contribution to journalArticle

Retroelements
Encephalocele
Inborn Genetic Diseases
DNA Transposable Elements
Medical Genetics
8 Citations (Scopus)

Expansion of the phenotype of Kosaki overgrowth syndrome

Minatogawa, M., Takenouchi, T., Tsuyusaki, Y., Iwasaki, F., Uehara, T., Kurosawa, K., Kosaki, K. & Curry, C. J., 2017, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Platelet-Derived Growth Factor beta Receptor
Phenotype
Genetic Databases
Mutation
Premature Aging
3 Citations (Scopus)
Blepharophimosis
Phenotype
Mutation
Genes
Intellectual Disability
3 Citations (Scopus)

Preaxial polydactyly in an individual with Wiedemann-Steiner syndrome caused by a novel nonsense mutation in KMT2A

Enokizono, T., Ohto, T., Tanaka, R., Tanaka, M., Suzuki, H., Sakai, A., Imagawa, K., Fukushima, H., Iwabuti, A., Fukushima, T., Sumazaki, R., Uehara, T., Takenouchi, T. & Kosaki, K., 2017 Oct 1, In : American Journal of Medical Genetics, Part A. 173, 10, p. 2821-2825 5 p.

Research output: Contribution to journalArticle

Polydactyly
Nonsense Codon
Nose
Mutation
Hypertrichosis

Respiratory arrest at the onset of idiopathic childhood occipital epilepsy of Gastaut

Funata, K., Shike, T., Takenouchi, T., Yamashita, Y. & Takahashi, T., 2017, (Accepted/In press) In : Brain and Development.

Research output: Contribution to journalArticle

Hallucinations
Epilepsy
Seizures
Partial Epilepsy
Electroencephalography
5 Citations (Scopus)

Therapeutic hypothermia for neonatal encephalopathy: A report from the first 3 years of the Baby Cooling Registry of Japan

Tsuda, K., Mukai, T., Iwata, S., Shibasaki, J., Tokuhisa, T., Ioroi, T., Sano, H., Yutaka, N., Takahashi, A., Takeuchi, A., Takenouchi, T., Araki, Y., Sobajima, H., Tamura, M., Hosono, S., Nabetani, M. & Iwata, O., 2017 Jan 4, In : Scientific Reports. 7, 39508.

Research output: Contribution to journalArticle

Induced Hypothermia
Brain Diseases
Registries
Japan
Acidosis
1 Citation (Scopus)

Truncating mutation in CSNK2B and myoclonic epilepsy

Sakaguchi, Y., Uehara, T., Suzuki, H., Kosaki, K. & Takenouchi, T., 2017, (Accepted/In press) In : Human Mutation.

Research output: Contribution to journalArticle

26 Citations (Scopus)

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

Gabriele, M., Vulto-van Silfhout, A. T., Germain, P. L., Vitriolo, A., Kumar, R., Douglas, E., Haan, E., Kosaki, K., Takenouchi, T., Rauch, A., Steindl, K., Frengen, E., Misceo, D., Pedurupillay, C. R. J., Stromme, P., Rosenfeld, J. A., Shao, Y., Craigen, W. J., Schaaf, C. P., Rodriguez-Buritica, D. & 31 others, Farach, L., Friedman, J., Thulin, P., McLean, S. D., Nugent, K. M., Morton, J., Nicholl, J., Andrieux, J., Stray-Pedersen, A., Chambon, P., Patrier, S., Lynch, S. A., Kjaergaard, S., Tørring, P. M., Brasch-Andersen, C., Ronan, A., van Haeringen, A., Anderson, P. J., Powis, Z., Brunner, H. G., Pfundt, R., Schuurs-Hoeijmakers, J. H. M., van Bon, B. W. M., Lelieveld, S., Gilissen, C., Nillesen, W. M., Vissers, L. E. L. M., Gecz, J., Koolen, D. A., Testa, G. & de Vries, B. B. A., 2017 Jun 1, In : American Journal of Human Genetics. 100, 6, p. 907-925 19 p.

Research output: Contribution to journalArticle

Yin-Yang
Haploinsufficiency
Intellectual Disability
Chromatin
Sequence Deletion
2016

Cover Image, Volume 170A, Number 12, December 2016

Takenouchi, T., Yoshihashi, H., Sakaguchi, Y., Uehara, T., Honda, M., Takahashi, T., Kosaki, K. & Miyama, S., 2016 Dec 1, In : American journal of medical genetics. Part A. 170, 12, p. i

Research output: Contribution to journalArticle

Hirschsprung Disease
Phenotype
Mutation
3 Citations (Scopus)
Intellectual Disability
Phenotype
Exome
Haploinsufficiency
Frameshift Mutation
8 Citations (Scopus)

Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia

Takenouchi, T., Okamoto, N., Ida, S., Uehara, T. & Kosaki, K., 2016 Apr 1, In : American Journal of Medical Genetics, Part A. 170, 4, p. 852-855 4 p.

Research output: Contribution to journalArticle

Thrombocytopenia
Mutation
Phenotype
Lymphedema
Actin Cytoskeleton
9 Citations (Scopus)

Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation

Takenouchi, T., Yoshihashi, H., Sakaguchi, Y., Uehara, T., Honda, M., Takahashi, T., Kosaki, K. & Miyama, S., 2016 Dec 1, In : American Journal of Medical Genetics, Part A. 170, 12, p. 3249-3252 4 p.

Research output: Contribution to journalArticle

Hirschsprung Disease
Phenotype
Mutation
Cell Lineage
Nails
13 Citations (Scopus)
Moyamoya Disease
Alleles
Pulmonary Hypertension
Lung
Lung Diseases
2015
14 Citations (Scopus)

Adult phenotype of Russell-Silver syndrome: A molecular support for Barker-Brenner's theory

Takenouchi, T., Awazu, M., Eggermann, T. & Kosaki, K., 2015 Aug 1, In : Congenital Anomalies. 55, 3, p. 167-169 3 p.

Research output: Contribution to journalArticle

Silver-Russell Syndrome
Epigenomics
Phenotype
Fetal Growth Retardation
Diabetes Mellitus
7 Citations (Scopus)

Childhood Sjögren syndrome presenting as acute brainstem encephalitis

Matsui, Y., Takenouchi, T., Narabayashi, A., Ohara, K., Nakahara, T. & Takahashi, T., 2015, (Accepted/In press) In : Brain and Development.

Research output: Contribution to journalArticle

Encephalitis
Brain Stem
Fever
Central Nervous System
Halitosis
14 Citations (Scopus)
Thrombocytopenia
Jacobsen Distal 11q Deletion Syndrome
Exome
Phenotype
Chromosome Deletion
1 Citation (Scopus)

Mosaic overgrowth with fibroadipose hyperplasia due to AKT1 mutation

Takenouchi, T., Sakamoto, Y., Torii, C., Hata, K., Kosaki, R. & Kosaki, K., 2015 Apr 1, In : American Journal of Medical Genetics, Part A. 167, 4, p. 907-909 3 p.

Research output: Contribution to journalArticle

40 Citations (Scopus)

Novel overgrowth syndrome phenotype due to recurrent de novo PDGFRB mutation

Takenouchi, T., Yamaguchi, Y., Tanikawa, A., Kosaki, R., Okano, H. & Kosaki, K., 2015 Feb 1, In : Journal of Pediatrics. 166, 2, p. 483-486 4 p.

Research output: Contribution to journalArticle

Platelet-Derived Growth Factor beta Receptor
Exome
Nervous System
Phenotype
Skin
6 Citations (Scopus)

Paramagnetic signals in the globus pallidus as late radiographic sign of juvenile-onset GM1 gangliosidosis

Takenouchi, T., Kosaki, R., Nakabayashi, K., Hata, K., Takahashi, T. & Kosaki, K., 2015 Feb 1, In : Pediatric Neurology. 52, 2, p. 226-229 4 p.

Research output: Contribution to journalArticle

GM1 Gangliosidosis
Globus Pallidus
Atrophy
Neuroimaging
Exome
9 Citations (Scopus)

Porencephaly in a fetus and HANAC in her father: Variable expression of COL4A1 mutation

Takenouchi, T., Ohyagi, M., Torii, C., Kosaki, R., Takahashi, T. & Kosaki, K., 2015 Jan 1, In : American Journal of Medical Genetics, Part A. 167, 1, p. 156-158 3 p.

Research output: Contribution to journalArticle

Fathers
Fetus
Mutation
Muscle Cramp
Intracranial Aneurysm
15 Citations (Scopus)

Therapeutic hypothermia achieves neuroprotection via a decrease in acetylcholine with a concurrent increase in carnitine in the neonatal hypoxia-ischemia

Takenouchi, T., Sugiura, Y., Morikawa, T., Nakanishi, T., Nagahata, Y., Sugioka, T., Honda, K., Kubo, A., Hishiki, T., Matsuura, T., Hoshino, T., Takahashi, T., Suematsu, M. & Kajimura, M., 2015 May 5, In : Journal of Cerebral Blood Flow and Metabolism. 35, 5, p. 794-805 12 p.

Research output: Contribution to journalArticle

Induced Hypothermia
Carnitine
Hypothermia
Acetylcholine
Ischemia
2014
16 Citations (Scopus)
Ionotropic Glutamate Receptors
Kainic Acid
Glutamate Receptors
Haploinsufficiency
Synaptic Transmission
4 Citations (Scopus)

Cilostazol strengthens the endothelial barrier of postcapillary venules from the rat mesentery in situ

Sugiura, Y., Morikawa, T., Takenouchi, T., Suematsu, M. & Kajimura, M., 2014, In : Phlebology. 29, 9, p. 594-599 6 p.

Research output: Contribution to journalArticle

Mesentery
Venules
Histamine
Phosphodiesterase 3 Inhibitors
Osmotic Pressure
1 Citation (Scopus)

Four-decade-old mummified umbilical tissue making retrospective molecular diagnosis of ornithine carbamoyltransferase deficiency

Takenouchi, T., Tsukahara, Y., Horikawa, R., Kosaki, K. & Kosaki, R., 2014, In : American Journal of Medical Genetics, Part A. 164, 10, p. 2679-2681 3 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)

Multiple café au lait spots in familial patients with MAP2K2 mutation

Takenouchi, T., Shimizu, A., Torii, C., Kosaki, R., Takahashi, T., Saya, H. & Kosaki, K., 2014 Feb, In : American Journal of Medical Genetics, Part A. 164, 2, p. 392-396 5 p.

Research output: Contribution to journalArticle

Neurofibromatosis 1
Mutation
Mothers
Phenotype
Neurofibroma
4 Citations (Scopus)

Multiple cerebral aneurysms after myxomatous stroke

Takenouchi, T., Sasaki, A. & Takahashi, T., 2014, In : Archives of Disease in Childhood. 99, 9, p. 849 1 p.

Research output: Contribution to journalArticle

Myxoma
Heart Neoplasms
Intracranial Aneurysm
Stroke
11 Citations (Scopus)

Progressive cognitive decline in an adult patient with cleidocranial dysplasia

Takenouchi, T., Sato, W., Torii, C. & Kosaki, K., 2014, In : European Journal of Medical Genetics. 57, 7, p. 319-321 3 p.

Research output: Contribution to journalArticle

Cleidocranial Dysplasia
Encephalomalacia
Skull
Head Protective Devices
Clavicle