Yasuko Fujisawa Selected Research

Focal Dermal Hypoplasia (Syndrome, Goltz)

1/2022

A novel intronic PORCN variant creating an alternative splice acceptor site in a mother and her daughter with focal dermal hypoplasia.

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Yasuko Fujisawa Research Topics

Disease

4	Non-Small-Cell Lung Carcinoma (Carcinoma, Non-Small Cell Lung) 03/2021 - 01/2016
3	Hyperemia 01/2020 - 01/2017
3	Glaucoma 01/2019 - 01/2017
2	Megalencephaly 01/2020 - 01/2012
2	Disease Progression 01/2017 - 01/2016
2	Hypogonadism (Hypergonadotropic Hypogonadism) 01/2017 - 09/2016
2	Glucose Intolerance 02/2016 - 08/2007
2	Neoplasms (Cancer) 12/2013 - 10/2011
2	Breast Neoplasms (Breast Cancer) 10/2011 - 08/2011
2	Obesity 08/2007 - 05/2004
2	Metabolic Syndrome (Dysmetabolic Syndrome X) 08/2007 - 05/2004
2	Body Weight (Weight, Body) 10/2004 - 05/2004
1	Connective Tissue Diseases (Connective Tissue Disease) 10/2022
1	Fever (Fevers) 08/2022
1	COVID-19 08/2022
1	Pneumonia (Pneumonitis) 08/2022
1	Focal Dermal Hypoplasia (Syndrome, Goltz) 01/2022
1	SHORT syndrome 01/2021
1	Diabetes Mellitus 01/2021
1	Hyperglycemia 01/2021
1	Hypoglycemia (Reactive Hypoglycemia) 01/2021
1	Neurodevelopmental Disorders 01/2021
1	Allan-Herndon-Dudley syndrome 01/2021
1	Pathologic Constriction (Stenosis) 07/2020
1	Bone Diseases (Bone Disease) 01/2020
1	Congenital Hypothyroidism (Cretinism) 01/2020
1	Hypophosphatasia 01/2020
1	Rickets (Rachitis) 01/2020
1	Type 2 Diabetes Mellitus (MODY) 11/2019
1	Type 2 Maturity-Onset Diabetes of the Young 11/2019
1	Birth Injuries (Birth Injury) 11/2019
1	Birth Weight (Birth Weights) 11/2019
1	Mason-Type Diabetes 11/2019
1	Ocular Hypertension (Glaucoma, Suspect) 01/2019
1	Open-Angle Glaucoma (Glaucoma, Open Angle) 01/2019
1	Coronary Stenosis (Coronary Artery Stenosis) 11/2018
1	Coronary Artery Disease (Coronary Atherosclerosis) 11/2018
1	Chronic Obstructive Pulmonary Disease (COPD) 02/2018
1	Synostosis 01/2018
1	Antley-Bixler Syndrome Phenotype 01/2018
1	Virilism (Virilization) 01/2018
1	Androgen-Insensitivity Syndrome (Testicular Feminization) 01/2018
1	Small Cell Carcinoma 01/2017
1	Cryptorchidism (Undescended Testes) 09/2016
1	Hypospadias 09/2016
1	Precocious Puberty 05/2016
1	Adrenocortical Carcinoma 05/2016
1	Solitary Pulmonary Nodule 02/2015

Drug/Important Bio-Agent (IBA)

3	Glucose (Dextrose)FDA LinkGeneric 01/2021 - 08/2007
3	Ophthalmic Solutions (Eye Drops)IBA 01/2020 - 01/2017
3	K-115IBA 01/2020 - 01/2017
3	AndrogensIBA 01/2018 - 05/2016
2	Therapeutic UsesIBA 10/2022 - 10/2012
2	RNA Splice SitesIBA 01/2022 - 01/2018
2	Insulin (Novolin)FDA Link 01/2021 - 11/2019
2	CalciumIBA 01/2020 - 12/2013
2	rho-Associated KinasesIBA 01/2019 - 01/2017
2	Cytidine Triphosphate (CTP)IBA 11/2018 - 10/2012
2	SteroidsIBA 01/2018 - 05/2016
2	Estrogen ReceptorsIBA 10/2011 - 08/2011
2	11-beta-Hydroxysteroid Dehydrogenase Type 1IBA 08/2007 - 05/2004
2	Messenger RNA (mRNA)IBA 08/2007 - 05/2004
2	Streptozocin (Streptozotocin)FDA Link 08/2007 - 10/2004
2	GlucocorticoidsIBA 08/2007 - 10/2004
2	11-beta-Hydroxysteroid Dehydrogenases (11beta Hydroxysteroid Dehydrogenase)IBA 10/2004 - 05/2004
1	favipiravirIBA 08/2022
1	XenonIBA 03/2021
1	Metformin (Glucophage)FDA LinkGeneric 01/2021
1	SodiumIBA 01/2021
1	Sodium-Glucose Transporter 2 InhibitorsIBA 01/2021
1	CanagliflozinIBA 01/2021
1	SymportersIBA 01/2021
1	Reverse TriiodothyronineIBA 01/2021
1	Thyroid HormonesIBA 01/2021
1	Triiodothyronine (Liothyronine)FDA LinkGeneric 01/2021
1	Phenobarbital (Luminal)FDA Link 07/2020
1	FluorineIBA 02/2020
1	Deoxyglucose (2 Deoxy D glucose)IBA 02/2020
1	omidenepag isopropylIBA 01/2020
1	asfotase alfaIBA 01/2020
1	Alkaline PhosphataseIBA 01/2020
1	Insulin-Like Growth Factor II (Somatomedin A)IBA 01/2020
1	Phosphates (Orthophosphate)IBA 01/2020
1	Transcription Factors (Transcription Factor)IBA 01/2020
1	Dinoprostone (PGE2)FDA Link 01/2020
1	GlucokinaseIBA 11/2019
1	GATIBA 01/2019
1	Protein Kinase InhibitorsIBA 01/2019
1	GoldIBA 02/2018
1	Androgen Receptors (Androgen Receptor)IBA 01/2018
1	Dihydrotestosterone (Androstanolone)IBA 01/2018
1	Type 1 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 1)IBA 01/2017
1	Gonadotropin-Releasing Hormone (GnRH)FDA Link 09/2016
1	Testosterone (Sustanon)FDA Link 09/2016
1	Biomarkers (Surrogate Marker)IBA 02/2016
1	Fluorodeoxyglucose F18 (Fludeoxyglucose F 18)FDA Link 02/2015

Therapy/Procedure

5	Therapeutics 08/2022 - 10/2010
3	Chemoradiotherapy 02/2020 - 01/2016
2	Slit Lamp 01/2020 - 01/2017
1	Enzyme Replacement Therapy 01/2020