Tomoki Kosho Selected Research

Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos)

9/2022	Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications.
7/2022	Clinical and pathophysiological delineation of musculocontractural Ehlers-Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS-DSE): A detailed and comprehensive glycobiological and pathological investigation in a novel patient.
12/2021	A new mouse model of Ehlers-Danlos syndrome generated using CRISPR/Cas9-mediated genomic editing.
1/2021	The first experience of denosumab therapy on patients with Ehlers-Danlos syndrome and osteoporosis: detailed observation of two patients.
1/2021	Myopathy Associated With Dermatan Sulfate-Deficient Decorin and Myostatin in Musculocontractural Ehlers-Danlos Syndrome: A Mouse Model Investigation.
1/2021	Ehlers Danlos Syndrome with Glycosaminoglycan Abnormalities.
11/2020	Posterior Spinal Fusion for Severe Spinal Deformities in Musculocontractural Ehlers-Danlos Syndrome: Detailed Observation of a Novel Case and Review of 2 Reported Cases.
1/2020	Delineation of musculocontractural Ehlers-Danlos Syndrome caused by dermatan sulfate epimerase deficiency.
1/2019	Structural alteration of glycosaminoglycan side chains and spatial disorganization of collagen networks in the skin of patients with mcEDS-CHST14.
1/2018	Vascular abnormalities in the placenta of Chst14-/- fetuses: implications in the pathophysiology of perinatal lethality of the murine model and vascular lesions in human CHST14/D4ST1 deficiency.

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Tomoki Kosho Research Topics

Disease

18	Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos) 09/2022 - 02/2007
6	Osteoporosis 01/2021 - 01/2017
5	Congenital Abnormalities (Deformity) 11/2020 - 08/2011
4	Aneurysm (Aneurysms) 04/2021 - 02/2010
4	Loeys-Dietz Syndrome 06/2020 - 02/2010
3	Osteogenesis Imperfecta (Lobstein Disease) 09/2022 - 01/2017
3	Inborn Genetic Diseases (Disease, Hereditary) 07/2022 - 03/2017
2	Type IV Ehlers-Danlos Syndrome 04/2021 - 09/2018
2	Muscular Diseases (Myopathy) 01/2021 - 04/2012
2	Chronic Kidney Failure (Chronic Renal Failure) 01/2021 - 03/2015
2	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 12/2020 - 04/2018
2	Brain Diseases (Brain Disorder) 10/2017 - 02/2016
2	Hematoma 08/2017 - 08/2011
2	Contracture 08/2017 - 08/2011
2	Clubfoot (Talipes Equinovarus) 10/2015 - 02/2010
2	musculocontractural type 1 Ehlers-Danlos Syndrome 12/2011 - 08/2011
1	Hearing Loss (Hearing Impairment) 08/2021
1	Myelodysplastic Syndromes (Myelodysplastic Syndrome) 08/2021
1	Infarction (Infarctions) 04/2021
1	Blood Vessel Dissection 04/2021
1	Nephrotic Syndrome (Syndrome, Nephrotic) 01/2021
1	Focal Segmental Glomerulosclerosis (Glomerulosclerosis, Focal) 01/2021
1	Fibrosis (Cirrhosis) 01/2021
1	diffuse Mesangial sclerosis 01/2021
1	Hypophosphatasia 12/2020
1	Musculoskeletal Pain 12/2020
1	Syringomyelia (Morvan's Disease) 06/2020
1	Arthrogryposis 05/2020
1	Kyphosis 05/2020
1	Intussusception 10/2019
1	Polyps 10/2019
1	Peutz-Jeghers Syndrome (Polyposis, Hamartomatous Intestinal) 10/2019
1	Metabolic Bone Diseases (Osteopenia) 01/2019
1	Prader-Willi Syndrome (Syndrome, Prader-Willi) 01/2019
1	Femoral Neck Fractures 04/2018
1	Hemorrhage 01/2018
1	Trisomy 13 Syndrome 01/2018
1	Anemia 01/2018
1	X-linked sideroblastic anemia 01/2018
1	Neurofibromatosis 1 (Neurofibromatosis Type I) 01/2018
1	Iron Overload 01/2018
1	Intestinal Volvulus (Volvulus) 10/2017
1	Infantile Spasms (West Syndrome) 10/2017
1	Atrophy 10/2017
1	Talipes 08/2017
1	Cicatrix (Scar) 08/2017
1	Spondyloepimetaphyseal Dysplasia With Joint Laxity 03/2017

Drug/Important Bio-Agent (IBA)

8	Dermatan SulfateIBA 07/2022 - 12/2011
6	Denosumab FDA Link 01/2021 - 01/2017
4	Proteins (Proteins, Gene)FDA Link 10/2017 - 02/2016
3	Racemases and Epimerases (Epimerases and Racemases)IBA 07/2022 - 03/2017
3	CollagenIBA 04/2021 - 08/2011
3	Pharmaceutical PreparationsIBA 12/2020 - 04/2018
3	Collagen Type III (Type III Collagen)IBA 09/2018 - 02/2007
3	SulfotransferasesIBA 08/2017 - 02/2016
2	Nonsense Codon (Nonsense Mutation)IBA 08/2021 - 10/2019
2	DecorinIBA 01/2021 - 03/2017
2	GlycosaminoglycansIBA 01/2021 - 01/2014
2	CarbohydratesIBA 08/2017 - 02/2016
2	Transforming Growth Factor-beta Type I ReceptorIBA 10/2015 - 02/2010
2	Transforming Growth Factor-beta Type II ReceptorIBA 10/2015 - 02/2010
2	2-Oxoglutarate 5-Dioxygenase Procollagen-Lysine (Lysyl Hydroxylase)IBA 08/2011 - 06/2010
1	Procollagen Type IIBA 09/2022
1	alpha2 Subunit Collagen Type IIBA 09/2022
1	RNA (Ribonucleic Acid)IBA 07/2022
1	ChemokinesIBA 01/2021
1	MyostatinIBA 01/2021
1	CytokinesIBA 01/2021
1	TRPC6 Cation ChannelIBA 01/2021
1	N- (4'- fluorobutyrophenone)- 4- (4- chlorophenyl)pyridinium (HPP(+))IBA 12/2020
1	asfotase alfaIBA 12/2020
1	Ion Channels (Ion Channel)IBA 05/2020
1	Capsules (Microcapsules)IBA 10/2019
1	Growth Hormone (Somatotropin)IBA 01/2019
1	Estrogens (Estrogen)FDA Link 01/2019
1	GlucocorticoidsIBA 04/2018
1	VitaminsIBA 01/2018
1	EnzymesIBA 01/2018
1	Folic Acid (Vitamin M)FDA LinkGeneric 01/2018
1	Vitamin B 6IBA 01/2018
1	Alendronate (Alendronate Sodium)FDA LinkGeneric 01/2018
1	Hemoglobins (Hemoglobin)IBA 01/2018
1	BariumIBA 10/2017
1	Valproic Acid (Depakote)FDA LinkGeneric 10/2017
1	Adrenocorticotropic Hormone (ACTH)FDA Link 10/2017
1	Pyridoxal Phosphate (Pyridoxal 5 Phosphate)IBA 10/2017
1	Phosphopyruvate Hydratase (Enolase)IBA 10/2017
1	BiglycanIBA 03/2017

Therapy/Procedure

10	Therapeutics 01/2021 - 04/2012
3	Spinal Fusion (Spondylosyndesis) 11/2020 - 05/2020
2	Tracheostomy 01/2018 - 07/2013
1	Conservative Treatment 04/2021
1	Ligation 04/2021
1	Pedicle Screws 05/2020
1	Reoperation 05/2020
1	Laparotomy 10/2019
1	Operative Surgical Procedures 01/2018
1	Gastrostomy 01/2018
1	Anesthesia 01/2018
1	Operative Time 01/2018