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Exome sequencing for bipolar disorder points to roles of de novo loss-of-function and protein-altering mutations

Molecular psychiatry, 2016-07, Vol.21 (7), p.885-893

2016

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A case of bipolar I disorder with a loss‐of‐function variant of schizophrenia risk gene SETD1A: possible expansion of the relevant clinical spectrum supported by a meta‐analysis

Psychiatry and clinical neurosciences, 2024-06, Vol.78 (6), p.374-375

2024

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Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder

Nature communications, 2021-06, Vol.12 (1), p.3750-3750, Article 3750

2021

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Ophthalmic Optics and Visual Function

Negishi, Kazuno

2022

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Loss of function mutations in ATP2A2 and psychoses: A case report and literature survey

Psychiatry and clinical neurosciences, 2016-08, Vol.70 (8), p.342-350

2016

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Exome sequencing in the knockin mice generated using the CRISPR/Cas system

Scientific reports, 2016-10, Vol.6 (1), p.34703, Article 34703

2016

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Prognostic significance of sarcopenia in patients undergoing esophagectomy for superficial esophageal squamous cell carcinoma

Diseases of the esophagus, 2019-07, Vol.32 (7)

2019

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Suppression of inflammatory and neuropathic pain symptoms in mice lacking the N-type Ca2+ channel

The EMBO journal, 2001-05, Vol.20 (10), p.2349-2356

2001

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Prognostic impact of lymphovascular invasion in lymph node-negative superficial esophageal squamous cell carcinoma

Diseases of the esophagus, 2019-12, Vol.32 (11)

2019

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Proteomic analysis of lymphoblastoid cells derived from monozygotic twins discordant for bipolar disorder: a preliminary study

PloS one, 2013-02, Vol.8 (2), p.e53855

2013

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Hypermethylation of serotonin transporter gene in bipolar disorder detected by epigenome analysis of discordant monozygotic twins

Translational psychiatry, 2011-07, Vol.1 (7), p.e24-e24

2011

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Impact of body mass index on postoperative complications and long‐term survival in patients with esophageal squamous cell cancer

Diseases of the esophagus, 2016-04, Vol.29 (3), p.229-235

2016

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Clinicopahological features of superficial basaloid squamous cell carcinoma of the esophagus

Diseases of the esophagus, 2017-12, Vol.30 (12), p.1-5

2017

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Deep exome sequencing identifies enrichment of deleterious mosaic variants in neurodevelopmental disorder genes and mitochondrial tRNA regions in bipolar disorder

Molecular psychiatry, 2023-10, Vol.28 (10), p.4294-4306

2023

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Nationwide Prospective Cohort Study on Cataract Surgery With Multifocal Intraocular Lens Implantation in Japan

American journal of ophthalmology, 2019-12, Vol.208, p.133-144

2019

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Clinicopathological significance of laminin-5γ2 chain expression in superficial esophageal cancer

Diseases of the esophagus, 2014-07, Vol.27 (5), p.463-469

2014

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Topologically associating domains define the impact of de novo promoter variants on autism spectrum disorder risk

Cell genomics, 2024-02, Vol.4 (2), p.100488-100488, Article 100488

2024

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Mitochondrial DNA haplogroup analysis in patients with bipolar disorder

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2009-03, Vol.150B (2), p.243-247

2009

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Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with bipolar disorder in Japanese and the National Institute of Mental Health pedigrees

Biological psychiatry (1969), 2004-10, Vol.56 (7), p.483-489

2004

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Mitochondrial DNA sequence analysis of patients with ‘atypical psychosis’

Psychiatry and clinical neurosciences, 2005-08, Vol.59 (4), p.497-503

2005

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Assessment of myopic rebound effect after discontinuation of treatment with 0.01% atropine eye drops in Japanese school-age children

Japanese journal of ophthalmology, 2023-09, Vol.67 (5), p.602-611

2023

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Intact LTP and Fear Memory but Impaired Spatial Memory in Mice Lacking Cav2.3 (αIE) Channel

Biochemical and biophysical research communications, 2001-03, Vol.282 (1), p.242-248

2001

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A 3-bp deletion of mitochondrial DNA tRNALys observed in lymphoblastoid cells

Journal of human genetics, 2009-10, Vol.54 (10), p.612-613

2009

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Risk factor profiles, drug usage, and prevalence of aspirin-associated gastroduodenal injuries among high-risk cardiovascular Japanese patients: the results from the MAGIC study

Journal of gastroenterology, 2014-05, Vol.49 (5), p.814-824

2014

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Mitochondrial DNA-dependent effects of valproate on mitochondrial calcium levels in transmitochondrial cybrids

The international journal of neuropsychopharmacology, 2008-02, Vol.11 (1), p.71-78

2008

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Exome sequencing for bipolar disorder points to roles of de novo loss-of-function and protein-altering mutations

A case of bipolar I disorder with a loss‐of‐function variant of schizophrenia risk gene SETD1A: possible expansion of the relevant clinical spectrum supported by a meta‐analysis

Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder

Ophthalmic Optics and Visual Function

Loss of function mutations in ATP2A2 and psychoses: A case report and literature survey

Exome sequencing in the knockin mice generated using the CRISPR/Cas system

Prognostic significance of sarcopenia in patients undergoing esophagectomy for superficial esophageal squamous cell carcinoma

Suppression of inflammatory and neuropathic pain symptoms in mice lacking the N-type Ca2+ channel

Prognostic impact of lymphovascular invasion in lymph node-negative superficial esophageal squamous cell carcinoma

Proteomic analysis of lymphoblastoid cells derived from monozygotic twins discordant for bipolar disorder: a preliminary study

Hypermethylation of serotonin transporter gene in bipolar disorder detected by epigenome analysis of discordant monozygotic twins

Impact of body mass index on postoperative complications and long‐term survival in patients with esophageal squamous cell cancer

Clinicopahological features of superficial basaloid squamous cell carcinoma of the esophagus

Deep exome sequencing identifies enrichment of deleterious mosaic variants in neurodevelopmental disorder genes and mitochondrial tRNA regions in bipolar disorder

Nationwide Prospective Cohort Study on Cataract Surgery With Multifocal Intraocular Lens Implantation in Japan

Clinicopathological significance of laminin-5γ2 chain expression in superficial esophageal cancer

Topologically associating domains define the impact of de novo promoter variants on autism spectrum disorder risk

Mitochondrial DNA haplogroup analysis in patients with bipolar disorder

Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with bipolar disorder in Japanese and the National Institute of Mental Health pedigrees

Mitochondrial DNA sequence analysis of patients with ‘atypical psychosis’

Assessment of myopic rebound effect after discontinuation of treatment with 0.01% atropine eye drops in Japanese school-age children

Intact LTP and Fear Memory but Impaired Spatial Memory in Mice Lacking Cav2.3 (αIE) Channel

A 3-bp deletion of mitochondrial DNA tRNALys observed in lymphoblastoid cells

Risk factor profiles, drug usage, and prevalence of aspirin-associated gastroduodenal injuries among high-risk cardiovascular Japanese patients: the results from the MAGIC study

Mitochondrial DNA-dependent effects of valproate on mitochondrial calcium levels in transmitochondrial cybrids

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