Toshiyuki Yamamoto Selected Research

Nucleotides

2/2024	Haploinsufficiency of NKX2-1 is likely to contribute to developmental delay involving 14q13 microdeletions.
1/2023	Breakpoint analysis for cytogenetically balanced translocation revealed unexpected complex structural abnormalities and suggested the position effect for MEF2C.
7/2019	Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1.
1/2018	Somatic mosaic deletions involving SCN1A cause Dravet syndrome.
1/2015	Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures.
1/2015	A novel MED12 mutation associated with non-specific X-linked intellectual disability.
12/2013	Novel nucleotide mutation leading to a recurrent amino acid alteration in SH3BP2 in a patient with cherubism.
1/2011	Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6.
12/2010	STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study.

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Toshiyuki Yamamoto Research Topics

Disease

22	Psoriasis (Pustulosis Palmaris et Plantaris) 11/2023 - 01/2003
16	Neoplasms (Cancer) 10/2023 - 06/2002
13	Sclerosis 03/2016 - 01/2002
11	Seizures (Absence Seizure) 01/2017 - 08/2005
10	Fibrosis (Cirrhosis) 01/2021 - 07/2003
10	Epilepsy (Aura) 01/2021 - 06/2002
9	Pyoderma Gangrenosum 03/2024 - 03/2010
8	Intellectual Disability (Idiocy) 01/2023 - 06/2006
8	Vascular System Injuries 01/2017 - 02/2005
7	Brain Diseases (Brain Disorder) 08/2023 - 10/2011
5	Deglutition Disorders (Dysphagia) 11/2023 - 10/2007
5	Melanoma (Melanoma, Malignant) 09/2022 - 04/2014
5	Pelizaeus-Merzbacher Disease 04/2017 - 03/2013
4	Neoplasm Metastasis (Metastasis) 02/2024 - 09/2010
4	Ulcer 12/2023 - 08/2014
4	Erythema 01/2023 - 01/2008
4	Leukoencephalopathies 12/2021 - 11/2015
4	Osteitis 11/2020 - 04/2014
4	Psoriatic Arthritis 03/2018 - 11/2013
4	Systemic Scleroderma (Systemic Sclerosis) 01/2017 - 05/2012
4	Tuberous Sclerosis (Bourneville's Disease) 10/2011 - 06/2002
3	Focal Infection 09/2022 - 04/2020
3	Chromosome Aberrations (Chromosome Abnormalities) 08/2022 - 01/2011
3	Inflammation (Inflammations) 12/2020 - 07/2003
3	Diabetes Mellitus 10/2018 - 04/2005
3	Drug Eruptions (Drug Eruption) 11/2017 - 05/2012
3	Hemorrhage 08/2017 - 01/2008
3	Craniosynostoses (Craniosynostosis) 11/2016 - 06/2006
3	Localized Scleroderma (Morphea) 01/2016 - 09/2003
3	Hypoglycemia (Reactive Hypoglycemia) 06/2015 - 04/2005
3	Liver Diseases (Liver Disease) 02/2014 - 01/2007
3	Renal Cell Carcinoma (Grawitz Tumor) 12/2013 - 09/2010
3	Glycogen Storage Disease Type II (Pompe's Disease) 03/2012 - 10/2003
3	Multiple Sclerosis 05/2006 - 06/2003
2	Erythema Nodosum 04/2024 - 04/2014
2	And Neonatal Respiratory Distress Hypothyroidism Choreoathetosis 02/2024 - 01/2016
2	Infections 12/2023 - 01/2021
2	Wounds and Injuries (Trauma) 12/2023 - 03/2016
2	Benign Fibrous Histiocytoma (Dermatofibroma) 11/2023 - 12/2012
2	Autoimmune Diseases (Autoimmune Disease) 11/2023 - 01/2018
2	Thrombosis (Thrombus) 11/2023 - 11/2022
2	Chromothripsis 01/2023 - 09/2020
2	Genetic Translocation (Chromosomal Translocation) 01/2023 - 10/2007
2	Necrosis 11/2022 - 04/2014
2	Renal Insufficiency (Renal Failure) 07/2022 - 12/2007
2	Exfoliative Dermatitis (Erythroderma) 05/2022 - 01/2015
2	Dermatomyositis (Dermatopolymyositis) 04/2022 - 11/2016
2	Hemolytic Anemia 01/2022 - 01/2021
2	Paraplegia (Spastic Paraplegia) 12/2021 - 07/2019
2	Neurodegenerative Diseases (Neurodegenerative Disease) 12/2021 - 07/2012

Drug/Important Bio-Agent (IBA)

18	Proteins (Proteins, Gene)FDA Link 08/2023 - 02/2005
13	Bleomycin (Blenoxane)FDA LinkGeneric 01/2017 - 01/2002
9	NucleotidesIBA 02/2024 - 12/2010
7	CytokinesIBA 03/2024 - 09/2003
7	DNA (Deoxyribonucleic Acid)IBA 07/2022 - 06/2006
6	Extracellular Matrix ProteinsIBA 01/2017 - 09/2008
5	SteroidsIBA 11/2023 - 04/2004
5	Adalimumab (Humira)FDA Link 05/2022 - 11/2012
5	CollagenIBA 01/2021 - 09/2003
5	Messenger RNA (mRNA)IBA 01/2021 - 09/2003
5	Tacrolimus (Prograf)FDA LinkGeneric 07/2011 - 01/2003
4	AutoantibodiesIBA 11/2023 - 12/2009
4	Immunoglobulins (Immunoglobulin)IBA 09/2022 - 04/2004
4	Adrenal Cortex Hormones (Corticosteroids)IBA 09/2012 - 02/2007
3	InterferonsIBA 11/2023 - 01/2002
3	Biomarkers (Surrogate Marker)IBA 09/2023 - 08/2020
3	Antineutrophil Cytoplasmic Antibodies (ANCA)IBA 01/2023 - 08/2012
3	Immune Checkpoint InhibitorsIBA 01/2023 - 01/2022
3	Hydroxychloroquine (Plaquenil)FDA LinkGeneric 01/2023 - 04/2014
3	Carrier Proteins (Binding Protein)IBA 01/2023 - 02/2011
3	EnzymesIBA 10/2022 - 05/2017
3	NivolumabIBA 05/2022 - 07/2015
3	AntibodiesIBA 04/2022 - 06/2016
3	LipidsIBA 09/2021 - 06/2004
3	Interleukin-17 (Interleukin 17)IBA 12/2020 - 05/2014
3	Immunoglobulin G (IgG)IBA 10/2020 - 06/2011
3	Glucose (Dextrose)FDA LinkGeneric 10/2018 - 04/2005
3	Levodopa (L Dopa)FDA LinkGeneric 01/2018 - 08/2009
3	Phenobarbital (Luminal)FDA Link 08/2016 - 07/2011
3	indium-bleomycinIBA 03/2016 - 07/2003
3	Anticonvulsants (Antiepileptic Drugs)IBA 11/2015 - 04/2013
3	Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA 01/2015 - 01/2013
3	Prednisolone (Predate)FDA LinkGeneric 08/2014 - 06/2011
3	Amyloid (Amyloid Fibrils)IBA 12/2013 - 09/2003
3	Methotrexate (Mexate)FDA LinkGeneric 07/2013 - 02/2005
3	trans-sodium crocetinate (crocetin)IBA 10/2011 - 06/2002
2	Tumor Necrosis Factor InhibitorsIBA 11/2023 - 03/2018
2	Leucine (L-Leucine)FDA Link 09/2023 - 06/2015
2	Potassium Channels (Potassium Channel)IBA 08/2023 - 08/2005
2	Serum Amyloid A Protein (Serum Amyloid A)IBA 10/2022 - 03/2021
2	Prostaglandins AIBA 05/2022 - 12/2020

Therapy/Procedure

30	Therapeutics 11/2023 - 01/2003
7	Transplantation 07/2022 - 01/2007
5	Aftercare (After-Treatment) 09/2022 - 10/2007
5	Injections 05/2005 - 01/2002
4	Ligation 01/2023 - 01/2007
3	Mechanical Ventilators (Ventilator) 11/2023 - 05/2010
3	Radiotherapy 03/2020 - 07/2013
3	Pancreaticoduodenectomy 05/2011 - 01/2008
2	Cesarean Section (Caesarean Section) 07/2022 - 10/2018