Koji Muroya Selected Research

Leri-Weil syndrome

1/2019	SHOX far-downstream copy-number variations involving cis-regulatory nucleotide variants in two sisters with Leri-Weill dyschondrosteosis.
7/2016	Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.

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Koji Muroya Research Topics

Disease

5	Congenital Hypothyroidism (Cretinism) 11/2020 - 04/2009
4	Neoplasms (Cancer) 01/2020 - 06/2009
4	Hypospadias 09/2016 - 01/2012
3	Rickets (Rachitis) 05/2022 - 01/2019
3	Lipodystrophy 04/2021 - 10/2013
3	Pseudohypoaldosteronism 08/2020 - 06/2010
3	Hypoglycemia (Reactive Hypoglycemia) 01/2018 - 08/2013
3	Pituitary Dwarfism 08/2013 - 02/2010
2	Familial Hypophosphatemic Rickets (X-Linked Hypophosphatemia) 05/2022 - 01/2021
2	Insulin Resistance 04/2021 - 01/2007
2	Leukemia 04/2021 - 10/2013
2	Thyroid Dysgenesis (Thyroid Agenesis) 11/2020 - 01/2015
2	Leri-Weil syndrome 01/2019 - 07/2016
2	Cryptorchidism (Undescended Testes) 09/2016 - 01/2012
2	Hypogonadism (Hypergonadotropic Hypogonadism) 09/2016 - 01/2015
2	Hypothyroidism 01/2015 - 01/2015
2	Hypopituitarism (Sheehan's Syndrome) 01/2015 - 01/2012
1	Rare Diseases (Rare Disease) 11/2022
1	Down Syndrome (Down's Syndrome) 01/2022
1	Dyslipidemias (Dyslipidemia) 04/2021
1	Fatty Liver 04/2021
1	Pain (Aches) 01/2021
1	Cholestasis 01/2021
1	Intrahepatic Cholestasis 01/2021
1	Congenital Abnormalities (Deformity) 01/2021
1	Fatigue 01/2021
1	progressive familial intrahepatic 1 Cholestasis 01/2021
1	Liver Diseases (Liver Disease) 01/2021
1	Weight Gain 01/2020
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2020
1	Optic Nerve Hypoplasia 01/2020
1	Virilism (Virilization) 02/2019
1	46,XY Disorder of Sex Development (Male Pseudohermaphroditism) 12/2018
1	Epilepsy (Aura) 12/2018
1	Glycogen Storage Disease Type IV (Andersen's Disease) 12/2018
1	Intestinal Perforation 01/2018
1	Metabolic Syndrome (Dysmetabolic Syndrome X) 01/2017
1	Obesity 01/2017
1	Primary Hyperparathyroidism 07/2016
1	Pheochromocytoma 01/2016
1	Paraganglioma (Paragangliomas) 01/2016
1	Hypophosphatemic Rickets 10/2015
1	Osteolysis 10/2015
1	Anophthalmos (Anophthalmia) 01/2015
1	Hypertension (High Blood Pressure) 01/2014
1	Hyperaldosteronism (Conn Syndrome) 01/2014
1	Hypertrophy 01/2014
1	Bartter Syndrome (Syndrome, Bartter) 12/2013

Drug/Important Bio-Agent (IBA)

5	Thyroxine (Levothyroxine)FDA LinkGeneric 11/2020 - 05/2012
4	Fibroblast Growth Factor-23IBA 05/2022 - 10/2015
4	Transcription Factors (Transcription Factor)IBA 11/2020 - 04/2010
4	Hormones (Hormone)IBA 01/2015 - 01/2012
3	burosumabIBA 05/2022 - 01/2019
3	SodiumIBA 08/2020 - 01/2014
3	Proteins (Proteins, Gene)FDA Link 12/2018 - 02/2010
3	Thyrotropin (Thyroid-Stimulating Hormone)FDA Link 10/2012 - 07/2010
2	Phosphorus (Red Phosphorus)IBA 01/2021 - 01/2019
2	Phosphates (Orthophosphate)IBA 01/2021 - 10/2015
2	Dietary PotassiumIBA 08/2020 - 01/2020
2	Epithelial Sodium ChannelsIBA 01/2020 - 06/2010
2	Gonadotropin-Releasing Hormone (GnRH)FDA Link 02/2019 - 09/2016
2	Blood Glucose (Blood Sugar)IBA 01/2018 - 01/2010
2	DNA (Deoxyribonucleic Acid)IBA 07/2016 - 12/2011
2	Growth Hormone (Somatotropin)IBA 01/2015 - 12/2013
2	SaltsIBA 12/2013 - 06/2010
2	Insulin (Novolin)FDA Link 12/2013 - 08/2013
2	Arginine (L-Arginine)FDA Link 12/2013 - 08/2013
2	bisphenol AIBA 01/2012 - 01/2012
1	Biological ProductsIBA 11/2022
1	Biomarkers (Surrogate Marker)IBA 05/2022
1	Thyroid HormonesIBA 01/2022
1	metreleptinIBA 04/2021
1	Vitamin D FDA LinkGeneric 01/2021
1	Adenosine Triphosphatases (ATPase)IBA 01/2021
1	Monoclonal AntibodiesIBA 01/2021
1	Phospholipids (Phosphatides)FDA LinkGeneric 01/2021
1	ReninIBA 01/2020
1	Retinaldehyde (Retinal)IBA 01/2020
1	PotassiumIBA 01/2020
1	PHEX Phosphate Regulating Neutral EndopeptidaseIBA 01/2019
1	NucleotidesIBA 01/2019
1	Dihydrotachysterol (AT 10)IBA 12/2018
1	Carbamazepine (Tegretol)FDA LinkGeneric 12/2018
1	Glucose (Dextrose)FDA LinkGeneric 01/2018
1	Testosterone (Sustanon)FDA Link 09/2016
1	Cinacalcet (Sensipar)FDA Link 07/2016
1	Succinate Dehydrogenase (Fumarate Reductase)IBA 01/2016
1	CytokinesIBA 10/2015
1	Octreotide (Sandostatin)FDA LinkGeneric 10/2015
1	NeopterinIBA 10/2015
1	Immunoglobulins (Immunoglobulin)IBA 01/2015
1	Triiodothyronine (Liothyronine)FDA LinkGeneric 01/2015
1	Spironolactone (Aldactone)FDA LinkGeneric 01/2014
1	Pharmaceutical PreparationsIBA 01/2014

Therapy/Procedure

3	Hematopoietic Stem Cell Transplantation 04/2021 - 10/2013
3	Therapeutics 01/2021 - 10/2012
1	Transitional Care 01/2020
1	Ileostomy 01/2018
1	Tracheostomy 07/2016
1	Parathyroidectomy 07/2016