Satomi Mitsuhashi Selected Research

Langer-Giedion Syndrome (Trichorhinophalangeal Syndrome Type II)

8/2020

Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4.

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Satomi Mitsuhashi Research Topics

Disease

10	Muscular Diseases (Myopathy) 01/2019 - 04/2012
8	Muscular Dystrophies (Muscular Dystrophy) 01/2017 - 09/2009
3	Facioscapulohumeral Muscular Dystrophy 12/2018 - 02/2013
2	Neurodevelopmental Disorders 01/2022 - 12/2018
2	Myoclonic Epilepsies (Myoclonic Encephalopathy) 01/2021 - 10/2019
2	Brain Diseases (Brain Disorder) 09/2020 - 10/2016
2	Nemaline Myopathies (Nemaline Myopathy) 01/2019 - 04/2012
2	Distal Myopathies (Distal Muscular Dystrophy) 01/2019 - 02/2017
1	Tauopathies 05/2022
1	Progressive Supranuclear Palsy (Steele Richardson Olszewski Syndrome) 05/2022
1	Alzheimer Disease (Alzheimer's Disease) 05/2022
1	Cerebrovascular Disorders (Cerebrovascular Occlusion) 01/2021
1	Langer-Giedion Syndrome (Trichorhinophalangeal Syndrome Type II) 08/2020
1	Chromothripsis 08/2020
1	Genetic Translocation (Chromosomal Translocation) 01/2020
1	Craniofacial Abnormalities 01/2020
1	Cleft Palate (Palate, Cleft) 01/2020
1	Scoliosis 10/2019
1	Ataxia (Dyssynergia) 10/2019
1	Arthritis (Polyarthritis) 09/2019
1	XX Disorders of Sex Development 46 (Female Pseudohermaphroditism) 01/2019
1	Fever (Fevers) 01/2019
1	Ulcer 01/2019
1	Thrombocytopenia (Thrombopenia) 12/2018
1	Myofibrillar Myopathy 11/2018
1	Sepsis (Septicemia) 01/2018
1	Leukoencephalopathies 10/2017
1	Empyema 01/2017
1	Myositis (Idiopathic Inflammatory Myopathies) 01/2017
1	Pleural Effusion (Pleural Effusions) 01/2017
1	Myotonia Congenita (Thomsen Disease) 01/2017
1	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 10/2016
1	Deglutition Disorders (Dysphagia) 01/2016
1	Minicore Myopathy with External Ophthalmoplegia 01/2016
1	Starvation 11/2015
1	Hereditary Myopathy with Early Respiratory Failure 05/2015
1	Hearing Loss (Hearing Impairment) 02/2013
1	Mitochondrial Diseases (Mitochondrial Disease) 10/2011
1	Intellectual Disability (Idiocy) 06/2011
1	Glycogen Storage Disease Type II (Pompe's Disease) 10/2010
1	Hypertrophy 09/2009

Drug/Important Bio-Agent (IBA)

6	Proteins (Proteins, Gene)FDA Link 01/2020 - 10/2016
5	DNA (Deoxyribonucleic Acid)IBA 08/2020 - 05/2015
3	Choline KinaseIBA 10/2013 - 06/2011
2	N-Acetylneuraminic Acid (Sialic Acid)IBA 01/2019 - 02/2017
2	EnzymesIBA 01/2019 - 02/2017
2	Uridine Diphosphate (UDP)IBA 01/2019 - 02/2017
2	Racemases and Epimerases (Epimerases and Racemases)IBA 01/2019 - 02/2017
2	Messenger RNA (mRNA)IBA 01/2018 - 11/2015
1	Amyloid (Amyloid Fibrils)IBA 05/2022
1	Microfilament Proteins (Actin Binding Proteins)IBA 05/2022
1	FilaminsIBA 05/2022
1	NucleotidesIBA 01/2022
1	ElementsIBA 01/2021
1	Collagen Type IV (Type IV Collagen)IBA 01/2021
1	PyrophosphatasesIBA 09/2020
1	Inosine TriphosphataseIBA 09/2020
1	Inosine Triphosphate (ITP)IBA 09/2020
1	A 7 (A-7)IBA 01/2020
1	RNA Splice SitesIBA 10/2019
1	Tumor Necrosis Factor Receptors (Tumor Necrosis Factor Receptor)IBA 09/2019
1	Protein Serine-Threonine Kinases (Protein-Serine-Threonine Kinase)IBA 09/2019
1	AcetylglucosamineIBA 01/2019
1	N-acylmannosamine kinaseIBA 01/2019
1	Transcription Factors (Transcription Factor)IBA 01/2019
1	RNA (Ribonucleic Acid)IBA 01/2019
1	veltuzumabIBA 01/2019
1	ChromatinIBA 12/2018
1	Amino Acids FDA Link 12/2018
1	N-Methyl-D-Aspartate Receptors (NMDA Receptors)IBA 12/2018
1	Cytochromes c (Cytochrome c)IBA 12/2018
1	Sulfhydryl Compounds (Thiols)IBA 11/2018
1	16S Ribosomal RNAIBA 01/2018
1	SulfurIBA 10/2017
1	IronIBA 10/2017
1	Iron-Sulfur ProteinsIBA 10/2017
1	Phosphotransferases (Kinase)IBA 02/2017
1	5' Untranslated Regions (5' UTR)IBA 02/2017
1	N,N-diacetylchitobioseIBA 02/2017
1	Ribosomal DNA (rDNA)IBA 01/2017
1	Oxidoreductases (Dehydrogenase)IBA 01/2017
1	AntibodiesIBA 01/2017
1	AutoantibodiesIBA 01/2017
1	3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA)IBA 01/2017
1	Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA 01/2017
1	Nonsense Codon (Nonsense Mutation)IBA 10/2016
1	Mitochondrial DNA (mtDNA)IBA 10/2016
1	Epidermal Growth Factor (EGF)IBA 01/2016
1	LDL Lipoproteins (beta Lipoproteins)IBA 11/2015
1	human MEGF10IBA 10/2014
1	Phospholipids (Phosphatides)FDA LinkGeneric 10/2013
1	Biological ProductsIBA 10/2013
1	Tyrosine (L-Tyrosine)FDA Link 09/2013
1	Cysteine (L-Cysteine)FDA Link 09/2013
1	Retinaldehyde (Retinal)IBA 02/2013
1	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 04/2012
1	Phosphatidylcholines (Phosphatidylcholine)IBA 06/2011
1	CalciumIBA 10/2010
1	CaveolinsIBA 09/2009

Therapy/Procedure

1	Enzyme Replacement Therapy 10/2010