Jung Min Ko Selected Research

Dwarfism

6/2016

SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation.

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Jung Min Ko Research Topics

Disease

4	Fabry Disease (Fabry's Disease) 07/2017 - 04/2008
3	Neoplasms (Cancer) 12/2023 - 10/2014
2	Phenylketonurias (Phenylketonuria) 12/2023 - 01/2022
2	Achondroplasia 10/2023 - 03/2023
2	Mucopolysaccharidosis IV (Morquio Syndrome) 05/2023 - 06/2022
2	Cystic Fibrosis (Mucoviscidosis) 09/2022 - 08/2019
2	Pain (Aches) 06/2022 - 09/2010
2	Lysosomal Storage Diseases (Lysosomal Storage Disease) 01/2021 - 04/2015
2	Ornithine Carbamoyltransferase Deficiency Disease 01/2021 - 09/2015
2	Gaucher Disease (Gaucher's Disease) 11/2020 - 04/2015
2	Metabolic Diseases (Metabolic Disease) 01/2020 - 08/2012
2	Craniofrontonasal dysplasia 09/2016 - 05/2016
2	Precocious Puberty 08/2014 - 01/2010
2	Hyperammonemia 08/2012 - 12/2007
2	Insulin Resistance 01/2012 - 01/2012
2	Cholestasis 10/2008 - 12/2007
1	Costello Syndrome 04/2024
1	Hypertriglyceridemia 04/2024
1	Hyperlipoproteinemia Type I (Lipoprotein Lipase Deficiency, Familial) 04/2024
1	Keratitis 12/2023
1	Hydrocephalus (Hydrocephaly) 10/2023
1	Propionic Acidemia 05/2023
1	alpha-Thalassemia 05/2023
1	Glycogen Storage Disease Type Ix 05/2023
1	Citrullinemia 05/2023
1	Congenital Myasthenic Syndromes (Myasthenia Gravis, Congenital) 05/2023
1	Silver-Russell Syndrome 01/2023
1	Beckwith-Wiedemann Syndrome (Exomphalos Macroglossia Gigantism Syndrome) 01/2023
1	Spinal Cord Diseases 06/2022
1	Microcephaly 01/2022
1	Proteinuria 01/2022
1	Shwachman-Diamond Syndrome 11/2021
1	Pseudopseudohypoparathyroidism 02/2021
1	Pseudohypoparathyroidism 02/2021
1	Progressive Osseous Heteroplasia 02/2021
1	Heterotopic Ossification (Ectopic Ossification) 02/2021
1	Portal Hypertension 01/2021
1	Tay-Sachs Disease 01/2021
1	Brain Diseases (Brain Disorder) 01/2021
1	Pathologic Constriction (Stenosis) 01/2021
1	Dyskeratosis Congenita (X-Linked Dyskeratosis Congenita) 01/2021
1	Growth mental deficiency syndrome of Myhre 01/2021
1	Hepatopulmonary Syndrome 01/2021
1	Incontinentia Pigmenti (Bloch Sulzberger Syndrome) 01/2021
1	Fibrolamellar hepatocellular carcinoma 01/2021
1	Skin Diseases (Skin Disease) 01/2021
1	Cardiomyopathies (Cardiomyopathy) 01/2020
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 01/2020
1	Encephalitis (Encephalitis, Rasmussen) 08/2019
1	Herpes Simplex Encephalitis (Herpes Encephalitis) 08/2019
1	Inborn Genetic Diseases (Disease, Hereditary) 12/2018
1	Androgen-Insensitivity Syndrome (Testicular Feminization) 12/2018
1	Inborn Urea Cycle Disorders 07/2018
1	Argininosuccinic Aciduria 07/2018

Drug/Important Bio-Agent (IBA)

7	EnzymesIBA 12/2023 - 12/2007
5	Proteins (Proteins, Gene)FDA Link 01/2022 - 01/2009
3	Growth Hormone (Somatotropin)IBA 03/2023 - 02/2010
2	Triglycerides (Triacylglycerol)IBA 04/2024 - 03/2016
2	Cystic Fibrosis Transmembrane Conductance Regulator (Protein, CFTR)IBA 09/2022 - 08/2019
2	AmmoniaIBA 01/2021 - 09/2015
2	GalactosidasesIBA 07/2017 - 09/2010
2	Ephrin-B1 (Ephrin B1)IBA 09/2016 - 05/2016
2	Carnitine (L-Carnitine)FDA LinkGeneric 03/2016 - 08/2012
2	6-chloro-2-(1-piperazinyl)pyrazine (CPP)IBA 08/2014 - 01/2010
2	CitrullineIBA 08/2012 - 12/2007
2	Insulin-Like PeptidesIBA 01/2012 - 01/2012
2	Insulin-Like Growth Factor Binding Protein 2IBA 01/2012 - 01/2012
1	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 04/2024
1	high density lipoprotein binding proteinIBA 04/2024
1	Adrenal Cortex Hormones (Corticosteroids)IBA 12/2023
1	Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA 05/2023
1	3-methylcrotonyl CoA carboxylase 2 deficiencyIBA 05/2023
1	DNA (Deoxyribonucleic Acid)IBA 01/2023
1	human GALNS proteinIBA 06/2022
1	Phenylalanine (L-Phenylalanine)FDA Link 01/2022
1	Angiotensin Receptor AntagonistsIBA 01/2022
1	CreatinineIBA 01/2022
1	Hormones (Hormone)IBA 02/2021
1	5-phenylpent-4-enyl-1-hydroperoxideIBA 02/2021
1	Hexosaminidases (Hexosaminidase)IBA 01/2021
1	NF-kappa B (NF-kB)IBA 01/2021
1	Glucosylceramidase (Glucocerebrosidase)IBA 11/2020
1	Neuroprotective AgentsIBA 11/2020
1	Malonic aciduriaIBA 01/2020
1	Deoxycytidine Monophosphate (DCMP)IBA 01/2020
1	Initiator Codon (Start Codon)IBA 01/2020
1	N-Methyl-D-Aspartate Receptors (NMDA Receptors)IBA 08/2019
1	Androgen Receptors (Androgen Receptor)IBA 12/2018
1	Arginine (L-Arginine)FDA Link 07/2018
1	Argininosuccinic AcidIBA 07/2018

Therapy/Procedure

5	Enzyme Replacement Therapy 06/2022 - 04/2008
2	Liver Transplantation 01/2021 - 03/2014
2	Therapeutics 06/2016 - 02/2010
1	Neurosurgical Procedures 10/2023
1	Decompression 10/2023
1	Osteotomy 06/2022
1	Tracheostomy 01/2021
1	Continuous Renal Replacement Therapy 01/2021
1	Estrogen Replacement Therapy 12/2018
1	Castration 12/2018