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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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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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Identification of mitochondrial DNA polymorphisms that alter mitochondrial matrix pH and intracellular calcium dynamics

PLoS genetics, 2006-08, Vol.2 (8), p.e128-e128

2006

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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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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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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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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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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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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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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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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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Relationships between mitochondrial DNA subhaplogroups and intracellular calcium dynamics

Mitochondrion, 2008-03, Vol.8 (2), p.164-169

2008

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Impact of body mass index on postoperative complications and long-term survival in patients with esophageal squamous cell cancer: BMI and esophageal cancer outcome

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

2016

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Innovation in Esophageal Foreign Body Extraction by Gastrointestinal Endoscopy

Nippon Kikan Shokudoka Gakkai kaiho, 2020-04, Vol.71 (2), p.115-115

2020

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Altered cerebellar function in mice lacking CaV2.3 Ca2+ channel

Biochemical and biophysical research communications, 2006-06, Vol.344 (3), p.920-925

2006

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Diagnosis and Treatment for Esophageal Cancer Accompanied by Head and Neck Cancer

Nippon Kikan Shokudoka Gakkai kaiho, 2011, Vol.62 (2), p.157-157

2011

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

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

2009

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Indications and Clinical Outcomes of Endoscopic Resection for Superficial Esophageal Cancer

Nippon Kikan Shokudoka Gakkai kaiho, 2010, Vol.61 (2), p.131-131

2010

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

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

2014

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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

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

Identification of mitochondrial DNA polymorphisms that alter mitochondrial matrix pH and intracellular calcium dynamics

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

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

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

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

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

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

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

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

Relationships between mitochondrial DNA subhaplogroups and intracellular calcium dynamics

Impact of body mass index on postoperative complications and long-term survival in patients with esophageal squamous cell cancer: BMI and esophageal cancer outcome

Innovation in Esophageal Foreign Body Extraction by Gastrointestinal Endoscopy

Altered cerebellar function in mice lacking CaV2.3 Ca2+ channel

Diagnosis and Treatment for Esophageal Cancer Accompanied by Head and Neck Cancer

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

Indications and Clinical Outcomes of Endoscopic Resection for Superficial Esophageal Cancer

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

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