Maki Fukami Selected Research

Deafness (Deaf Mutism)

12/2015	A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome.
1/2010	Diabetes mellitus in a Japanese girl with HDR syndrome and GATA3 mutation.

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Maki Fukami Research Topics

Disease

12	Hypospadias 12/2019 - 12/2006
10	Neoplasms (Cancer) 01/2023 - 01/2008
9	Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 01/2022 - 02/2006
9	Antley-Bixler Syndrome Phenotype 01/2018 - 01/2005
6	Precocious Puberty 01/2023 - 01/2015
6	Pseudohypoparathyroidism 10/2022 - 01/2013
6	Virilism (Virilization) 01/2022 - 05/2009
6	Gynecomastia 01/2021 - 06/2011
5	Hypogonadism (Hypergonadotropic Hypogonadism) 01/2023 - 12/2004
5	Polycystic Ovary Syndrome (Syndrome, Stein-Leventhal) 01/2022 - 01/2016
5	Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal) 01/2022 - 01/2014
4	Congenital Hypothyroidism (Cretinism) 05/2024 - 04/2016
4	Combined Pituitary Hormone Deficiency 12/2022 - 02/2010
4	Cryptorchidism (Undescended Testes) 02/2018 - 08/2005
4	Azoospermia 01/2018 - 01/2014
3	Hypothyroidism 01/2024 - 01/2014
3	Intellectual Disability (Idiocy) 12/2023 - 01/2015
3	Penis agenesis 11/2023 - 02/2005
3	Hypocalcemia 10/2022 - 01/2013
3	XX Disorders of Sex Development 46 (Female Pseudohermaphroditism) 01/2022 - 05/2009
3	Gonadal Dysgenesis (Gonadal Agenesis) 01/2022 - 01/2012
3	Type 1 Diabetes Mellitus (Autoimmune Diabetes) 01/2021 - 05/2017
3	Hyperphosphatemia 01/2021 - 01/2013
3	Leri-Weil syndrome 01/2019 - 10/2003
3	Androgen-Insensitivity Syndrome (Testicular Feminization) 02/2018 - 01/2014
2	Overweight 01/2024 - 10/2022
2	Disorders of Sex Development (Intersexuality) 11/2023 - 05/2009
2	Genetic Predisposition to Disease (Genetic Predisposition) 01/2023 - 02/2005
2	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 10/2022 - 01/2022
2	Imprinting Disorders 10/2022 - 10/2022
2	Diabetes Mellitus 01/2021 - 01/2010
2	Hypoglycemia (Reactive Hypoglycemia) 01/2021 - 06/2018
2	Hyperglycemia 01/2021 - 01/2020
2	Megalencephaly 01/2020 - 05/2014
2	CHARGE Syndrome 06/2018 - 01/2018
2	Prader-Willi Syndrome (Syndrome, Prader-Willi) 02/2018 - 12/2017
2	Deafness (Deaf Mutism) 12/2015 - 01/2010
2	Hypoparathyroidism 12/2015 - 01/2010
2	Inborn Genetic Diseases (Disease, Hereditary) 03/2014 - 01/2012
2	46,XY Disorder of Sex Development (Male Pseudohermaphroditism) 10/2012 - 05/2009
2	Kallmann Syndrome (Kallmann's Syndrome) 04/2006 - 08/2005
1	Neurodevelopmental Disorders 12/2023

Drug/Important Bio-Agent (IBA)

13	SteroidsIBA 11/2023 - 12/2004
12	Testosterone (Sustanon)FDA Link 11/2023 - 12/2004
9	Hormones (Hormone)IBA 01/2023 - 12/2004
9	AndrogensIBA 01/2022 - 01/2012
8	Oxidoreductases (Dehydrogenase)IBA 11/2023 - 01/2005
6	Estrogens (Estrogen)FDA Link 01/2022 - 08/2005
6	Proteins (Proteins, Gene)FDA Link 10/2021 - 01/2009
5	EnzymesIBA 01/2022 - 12/2004
5	due to increased aromatase activity familial gynecomastiaIBA 01/2021 - 06/2011
5	DNA (Deoxyribonucleic Acid)IBA 07/2016 - 01/2009
4	Growth Hormone (Somatotropin)IBA 01/2023 - 10/2008
4	Transcription Factors (Transcription Factor)IBA 12/2022 - 08/2010
4	Insulin (Novolin)FDA Link 01/2021 - 10/2008
4	Hydrocortisone (Cortisol)FDA LinkGeneric 01/2021 - 12/2004
4	Gonadotropin-Releasing Hormone (GnRH)FDA Link 01/2021 - 12/2004
4	Steroid 21-Hydroxylase (21 Hydroxylase)IBA 01/2019 - 10/2013
4	GonadotropinsIBA 12/2017 - 12/2004
4	Nonsense Codon (Nonsense Mutation)IBA 08/2017 - 12/2006
4	Type 1 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 1)IBA 01/2017 - 08/2005
4	Cytochrome P-450 Enzyme System (Cytochrome P450)IBA 12/2014 - 01/2005
3	Thyroxine (Levothyroxine)FDA LinkGeneric 01/2024 - 11/2020
3	Androstenedione (4 Androstene 3,17 dione)IBA 11/2023 - 11/2020
3	Parathyroid Hormone (Parathormone)IBA 10/2022 - 01/2018
3	RNA Splice SitesIBA 01/2022 - 01/2018
3	NucleotidesIBA 01/2022 - 05/2017
3	AutoantibodiesIBA 01/2021 - 01/2010
3	Phosphates (Orthophosphate)IBA 01/2019 - 01/2013
3	GlucocorticoidsIBA 10/2016 - 10/2013
3	Aromatase (CYP19)IBA 07/2014 - 03/2014
2	Dual OxidasesIBA 05/2024 - 04/2016
2	Thyrotropin (Thyroid-Stimulating Hormone)FDA Link 01/2024 - 01/2018
2	SilverIBA 12/2022 - 10/2022
2	Steroid 17-alpha-Hydroxylase (17 alpha Hydroxylase)IBA 01/2022 - 10/2013
2	Mixed Function Oxygenases (Monooxygenases)IBA 01/2022 - 10/2013
2	Glucose (Dextrose)FDA LinkGeneric 01/2021 - 02/2018
2	SodiumIBA 01/2021 - 02/2018
2	Pregnanolone (Allopregnanolone)IBA 01/2021 - 01/2016
2	Endocrine DisruptorsIBA 12/2019 - 08/2005
2	Blood Glucose (Blood Sugar)IBA 06/2018 - 01/2010
2	Androgen Receptors (Androgen Receptor)IBA 02/2018 - 01/2018
2	GTP-Binding Proteins (G-Protein)IBA 01/2018 - 01/2016
2	Follicle Stimulating Hormone (Follitropin)FDA Link 01/2018 - 01/2018
2	Dihydrotestosterone (Androstanolone)IBA 01/2018 - 07/2006
2	pregnanetrioloneIBA 04/2016 - 04/2012
2	G-Protein-Coupled Receptors (Receptors, G Protein Coupled)IBA 01/2015 - 09/2012
2	Adrenocorticotropic Hormone (ACTH)FDA Link 01/2015 - 12/2004
2	Steroidogenic Factor 1IBA 10/2012 - 01/2009
2	bisphenol AIBA 01/2012 - 01/2012
2	Aromatase deficiencyIBA 05/2009 - 02/2006
1	Thyroid HormonesIBA 05/2024
1	Immunoglobulins (Immunoglobulin)IBA 01/2024
1	Thyrotropin-Releasing Hormone (Protirelin)FDA Link 01/2024
1	diazonaphthalenedisulfonic acid (NDS)IBA 12/2023
1	Chorionic Gonadotropin (Human Chorionic Gonadotropin)FDA LinkGeneric 11/2023
1	Kisspeptin-1 ReceptorsIBA 01/2023

Therapy/Procedure

4	Therapeutics 01/2021 - 08/2005
3	Ligation 01/2016 - 01/2013
1	Cesarean Section (Caesarean Section) 01/2023