Koh-Ichiro Yoshiura Selected Research

Spondylocarpotarsal synostosis

5/2019

Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome.

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!

Koh-Ichiro Yoshiura Research Topics

Disease

9	Neoplasms (Cancer) 08/2020 - 09/2013
3	Familial Mediterranean Fever (Periodic Disease) 09/2020 - 04/2016
3	Lung Neoplasms (Lung Cancer) 10/2015 - 08/2012
2	Mitochondrial Diseases (Mitochondrial Disease) 03/2022 - 01/2020
2	Fever (Fevers) 09/2020 - 09/2011
2	Disease Progression 08/2018 - 09/2016
2	Sick Sinus Syndrome 07/2017 - 01/2017
2	Placenta Previa 09/2008 - 05/2005
2	Cleft Lip (Harelip) 01/2006 - 08/2004
1	Developmental Disabilities (Developmental Disability) 03/2022
1	Fanconi Syndrome (Syndrome, Fanconi) 03/2022
1	Dystonia (Limb Dystonia) 01/2022
1	Pitt-Hopkins syndrome 01/2022
1	Seizures (Absence Seizure) 01/2022
1	Familial paroxysmal dystonia 01/2022
1	Liver Diseases (Liver Disease) 06/2021
1	Liver Failure 06/2021
1	End Stage Liver Disease 06/2021
1	Schizophrenia (Dementia Praecox) 01/2021
1	Sitosterolemia 11/2020
1	Hypercholesterolemia 11/2020
1	Hyperlipoproteinemia Type II (Familial Hypercholesterolemia) 11/2020
1	Cryopyrin-Associated Periodic Syndromes 11/2020
1	Multiple Myeloma 08/2020
1	Headache (Headaches) 06/2020
1	Pheochromocytoma 06/2020
1	Spondylocarpotarsal synostosis 05/2019
1	Scoliosis 05/2019
1	Tarsal Coalition 05/2019
1	Normal Pressure Hydrocephalus 01/2019
1	Young Simpson syndrome 01/2019
1	Myelodysplastic Syndromes (Myelodysplastic Syndrome) 01/2018
1	Panic Disorder (Panic Attack) 01/2018
1	Rheumatic Diseases (Rheumatism) 12/2017
1	Macrophage Activation Syndrome 12/2017
1	Genetic Predisposition to Disease (Genetic Predisposition) 12/2017
1	Adult-Onset Still's Disease 12/2017
1	Cardiac Arrhythmias (Arrythmia) 07/2017
1	Intervertebral Disc Displacement (Herniated Disc) 07/2017
1	Facioscapulohumeral Muscular Dystrophy 02/2017
1	Intellectual Disability (Idiocy) 01/2017
1	Neurodevelopmental Disorders 01/2017
1	Megalencephaly 01/2017
1	Papillary Thyroid Cancer 01/2017
1	Granulosa Cell Tumor 10/2016

Drug/Important Bio-Agent (IBA)

5	DNA (Deoxyribonucleic Acid)IBA 09/2016 - 01/2006
4	Proteins (Proteins, Gene)FDA Link 01/2021 - 05/2016
3	Messenger RNA (mRNA)IBA 06/2014 - 05/2005
2	EnzymesIBA 03/2022 - 01/2020
2	MicroRNAs (MicroRNA)IBA 06/2021 - 05/2015
2	Biomarkers (Surrogate Marker)IBA 06/2021 - 04/2016
2	Nonsense Codon (Nonsense Mutation)IBA 01/2019 - 01/2017
2	CytokinesIBA 01/2018 - 04/2016
2	Interferon Regulatory FactorsIBA 09/2010 - 08/2004
1	Electron Transport Complex III (Coenzyme Q-Cytochrome-c Reductase)IBA 03/2022
1	human PRRT2 proteinIBA 01/2022
1	Oxygen (Dioxygen)IBA 01/2022
1	Lamotrigine (Lamictal)FDA LinkGeneric 01/2022
1	Carbon DioxideIBA 01/2022
1	Ezetimibe (Zetia)FDA Link 11/2020
1	Adenosine Triphosphate (ATP)IBA 11/2020
1	LDL CholesterolIBA 11/2020
1	Phytosterols (Plant Sterols)IBA 11/2020
1	SterolsIBA 11/2020
1	oxidized low density lipoproteinIBA 11/2020
1	Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA 11/2020
1	InflammasomesIBA 11/2020
1	piperidineIBA 11/2020
1	NucleotidesIBA 09/2020
1	nilotinib FDA Link 08/2020
1	Phosphotransferases (Kinase)IBA 08/2020
1	KIRA8IBA 08/2020
1	Pharmaceutical PreparationsIBA 08/2020
1	Ribonucleases (Ribonuclease)IBA 08/2020
1	KIRA6IBA 08/2020
1	RNA (Ribonucleic Acid)IBA 06/2020
1	Endoplasmic Reticulum Chaperone BiPIBA 06/2020
1	CatecholaminesIBA 06/2020
1	FilaminsIBA 05/2019
1	Carrier Proteins (Binding Protein)IBA 05/2019
1	Myosin Heavy Chains (Myosin Heavy Chain)IBA 05/2019
1	Lysine AcetyltransferasesIBA 01/2019
1	LipopolysaccharidesIBA 01/2018
1	Phosphatidylinositols (Phosphatidylinositol)IBA 01/2018
1	HLA-DRB1 Chains (HLA DRB1)IBA 12/2017
1	SteroidsIBA 12/2017
1	Tamoxifen FDA LinkGeneric 07/2017
1	Aggrecans (Aggrecan)IBA 07/2017
1	Histones (Histone)IBA 01/2017
1	polyalanineIBA 01/2017
1	TransferasesIBA 01/2017
1	Hyperpolarization-Activated Cyclic Nucleotide-Gated ChannelsIBA 01/2017
1	Reticulin (Reticular Fiber)IBA 10/2016

Therapy/Procedure

3	Therapeutics 01/2020 - 02/2017
2	Drug Therapy (Chemotherapy) 08/2018 - 01/2018
1	Transplantation 06/2021
1	Liver Transplantation 06/2021
1	Adrenalectomy 06/2020
1	Radiotherapy 01/2018
1	Sutures (Suture) 01/2017