Maki Fukami Selected Research

Antley-Bixler Syndrome Phenotype

1/2018	Longitudinal serum and urine steroid metabolite profiling in a 46,XY infant with prenatally identified POR deficiency.
12/2014	Cytochrome P450 oxidoreductase deficiency: rare congenital disorder leading to skeletal malformations and steroidogenic defects.
4/2013	Backdoor pathway for dihydrotestosterone biosynthesis: implications for normal and abnormal human sex development.
4/2012	Two-step biochemical differential diagnosis of classic 21-hydroxylase deficiency and cytochrome P450 oxidoreductase deficiency in Japanese infants by GC-MS measurement of urinary pregnanetriolone/ tetrahydroxycortisone ratio and 11β-hydroxyandrosterone.
7/2010	Anorectal and urinary anomalies and aberrant retinoic acid metabolism in cytochrome P450 oxidoreductase deficiency.
5/2009	Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients.
7/2006	Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: implication for the backdoor pathway to dihydrotestosterone.
2/2006	Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis.
1/2005	Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.

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Maki Fukami Research Topics

Disease

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

Drug/Important Bio-Agent (IBA)

11	SteroidsIBA 01/2021 - 12/2004
11	Testosterone (Sustanon)FDA Link 11/2020 - 12/2004
8	AndrogensIBA 01/2021 - 01/2012
8	Hormones (Hormone)IBA 01/2021 - 12/2004
7	Oxidoreductases (Dehydrogenase)IBA 01/2018 - 01/2005
6	Proteins (Proteins, Gene)FDA Link 10/2021 - 01/2009
5	EnzymesIBA 01/2022 - 12/2004
5	Estrogens (Estrogen)FDA Link 01/2022 - 08/2005
5	due to increased aromatase activity familial gynecomastiaIBA 01/2021 - 06/2011
5	DNA (Deoxyribonucleic Acid)IBA 07/2016 - 01/2009
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	RNA Splice SitesIBA 01/2022 - 01/2018
3	NucleotidesIBA 01/2022 - 05/2017
3	AutoantibodiesIBA 01/2021 - 01/2010
3	Transcription Factors (Transcription Factor)IBA 11/2020 - 08/2010
3	Phosphates (Orthophosphate)IBA 01/2019 - 01/2013
3	Growth Hormone (Somatotropin)IBA 06/2018 - 10/2008
3	GlucocorticoidsIBA 10/2016 - 10/2013
3	Aromatase (CYP19)IBA 07/2014 - 03/2014
2	Mixed Function Oxygenases (Monooxygenases)IBA 01/2022 - 10/2013
2	Steroid 17-alpha-Hydroxylase (17 alpha Hydroxylase)IBA 01/2022 - 10/2013
2	SodiumIBA 01/2021 - 02/2018
2	Glucose (Dextrose)FDA LinkGeneric 01/2021 - 02/2018
2	Pregnanolone (Allopregnanolone)IBA 01/2021 - 01/2016
2	Androstenedione (4 Androstene 3,17 dione)IBA 01/2021 - 11/2020
2	Parathyroid Hormone (Parathormone)IBA 01/2021 - 01/2018
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	Dihydrotestosterone (Androstanolone)IBA 01/2018 - 07/2006
2	GTP-Binding Proteins (G-Protein)IBA 01/2018 - 01/2016
2	Follicle Stimulating Hormone (Follitropin)FDA Link 01/2018 - 01/2018
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	Biological ProductsIBA 12/2012 - 01/2012
2	Steroidogenic Factor 1IBA 10/2012 - 01/2009
2	bisphenol AIBA 01/2012 - 01/2012
2	Aromatase deficiencyIBA 05/2009 - 02/2006
1	SilverIBA 10/2022
1	Antithrombin IIIIBA 05/2021
1	Congenital disorder of glycosylation type 1AIBA 05/2021
1	Metformin (Glucophage)FDA LinkGeneric 01/2021
1	Sodium-Glucose Transporter 2 InhibitorsIBA 01/2021
1	SymportersIBA 01/2021
1	CanagliflozinIBA 01/2021
1	NeurosteroidsIBA 01/2021

Therapy/Procedure

4	Therapeutics 01/2021 - 08/2005
3	Ligation 01/2016 - 01/2013