Kenjiro Kosaki Selected Research

Undiagnosed Diseases

1/2022	A patient with compound heterozygosity of SMPD4: Another example of utility of exome-based copy number analysis in autosomal recessive disorders.
1/2019	Medical genetics and genomic medicine in Japan.
1/2017	Initiating an undiagnosed diseases program in the Western Australian public health system.
12/2015	Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs.

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!

Kenjiro Kosaki Research Topics

Disease

11	Neoplasms (Cancer) 05/2022 - 07/2003
7	Intellectual Disability (Idiocy) 02/2022 - 04/2012
7	CHARGE Syndrome 11/2017 - 09/2005
5	Hearing Loss (Hearing Impairment) 02/2022 - 10/2013
5	Craniosynostoses (Craniosynostosis) 11/2021 - 03/2007
4	Mitochondrial Diseases (Mitochondrial Disease) 03/2022 - 01/2019
4	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2022 - 09/2005
4	Undiagnosed Diseases 01/2022 - 12/2015
4	Ovarian Neoplasms (Ovarian Cancer) 02/2021 - 05/2013
4	Epilepsy (Aura) 01/2021 - 12/2004
4	Coloboma (Colobomas) 01/2021 - 12/2005
3	Noonan Syndrome (Female Pseudo-Turner Syndrome) 01/2022 - 08/2002
3	Microcephaly 01/2022 - 08/2014
3	Lymphoma (Lymphomas) 10/2020 - 02/2006
3	Precursor Cell Lymphoblastic Leukemia-Lymphoma (Acute Lymphoblastic Leukemia) 05/2008 - 01/2005
2	Multiple Organ Failure (MODS) 03/2022 - 06/2021
2	Rheumatoid Arthritis 02/2022 - 01/2005
2	Seizures (Absence Seizure) 06/2021 - 01/2020
2	Hypoglycemia (Reactive Hypoglycemia) 06/2021 - 01/2017
2	Dyskinesias (Dyskinesia) 04/2021 - 01/2019
2	Breast Neoplasms (Breast Cancer) 02/2021 - 05/2013
2	Liver Failure 01/2021 - 07/2011
2	Intracranial Aneurysm (Cerebral Aneurysm) 01/2021 - 01/2015
2	Endometrial Neoplasms (Endometrial Cancer) 01/2021 - 08/2020
2	Diabetes Mellitus 02/2020 - 01/2017
2	Premature Aging 12/2019 - 09/2017
2	Carcinogenesis 12/2019 - 01/2017
2	Diarrhea 01/2019 - 12/2013
2	DiGeorge Syndrome (Syndrome, DiGeorge) 01/2019 - 07/2010
2	Hypertelorism 12/2018 - 03/2007
2	Cleidocranial Dysplasia (Cleidocranial Dysostosis) 01/2018 - 02/2006
2	Vomiting 08/2016 - 02/2006
2	Loeys-Dietz Syndrome 10/2015 - 07/2013
2	Clubfoot (Talipes Equinovarus) 10/2015 - 05/2014
2	Hirschsprung Disease (Hirschsprung's Disease) 08/2014 - 04/2012
2	Hypertension (High Blood Pressure) 05/2013 - 11/2010
2	Hydrocephalus (Hydrocephaly) 04/2012 - 09/2004
2	Marfan Syndrome (Marfan's Syndrome) 02/2008 - 09/2005
2	Rubinstein-Taybi Syndrome (Syndrome, Rubinstein-Taybi) 12/2005 - 09/2005
2	Penis agenesis 07/2003 - 01/2002
1	Lysinuric Protein Intolerance 10/2022
1	Hypoproteinemia 09/2022
1	Inborn Genetic Diseases (Disease, Hereditary) 09/2022
1	Anemia 09/2022
1	Amyloidosis 03/2022
1	Transthyretin-Related Hereditary Amyloidosis 03/2022
1	Deglutition Disorders (Dysphagia) 03/2022
1	Fanconi Syndrome (Syndrome, Fanconi) 03/2022
1	Developmental Disabilities (Developmental Disability) 03/2022
1	Familial Amyloidosis (Hereditary Amyloidosis) 03/2022
1	Brain Diseases (Brain Disorder) 03/2022
1	Disseminated Intravascular Coagulation 03/2022
1	Ossification of the posterior longitudinal ligament of the spine 02/2022
1	Osteoarthritis 02/2022

Drug/Important Bio-Agent (IBA)

13	Proteins (Proteins, Gene)FDA Link 01/2022 - 01/2002
8	EnzymesIBA 03/2022 - 07/2003
6	Pharmaceutical PreparationsIBA 05/2022 - 01/2005
5	DNA (Deoxyribonucleic Acid)IBA 05/2022 - 01/2002
4	Nonsense Codon (Nonsense Mutation)IBA 11/2021 - 08/2014
4	Retinaldehyde (Retinal)IBA 01/2015 - 12/2005
4	DNA HelicasesIBA 04/2014 - 01/2006
3	Growth Hormone (Somatotropin)IBA 01/2022 - 07/2017
3	Platelet-Derived Growth Factor beta Receptor (Receptor, Platelet Derived Growth Factor beta)IBA 01/2021 - 09/2017
3	Methotrexate (Mexate)FDA LinkGeneric 01/2019 - 02/2006
3	Uridine Diphosphate (UDP)IBA 01/2017 - 12/2013
3	Carrier Proteins (Binding Protein)IBA 04/2014 - 01/2006
2	Amino Acids FDA Link 10/2022 - 08/2016
2	CREB-Binding ProteinIBA 01/2022 - 12/2005
2	IronIBA 03/2021 - 02/2015
2	Mitochondrial DNA (mtDNA)IBA 01/2021 - 01/2017
2	Risperidone (Risperdal Consta)FDA LinkGeneric 08/2020 - 06/2009
2	Anticonvulsants (Antiepileptic Drugs)IBA 01/2020 - 01/2019
2	Estradiol (Delestrogen)FDA LinkGeneric 01/2018 - 06/2016
2	Transcription Factors (Transcription Factor)IBA 01/2018 - 06/2017
2	ChromatinIBA 11/2017 - 06/2017
2	Transforming Growth Factor-beta Type II ReceptorIBA 10/2015 - 07/2013
2	polyalanineIBA 12/2014 - 03/2002
2	Methimazole (Thiamazole)FDA LinkGeneric 06/2013 - 12/2005
2	Aryl Hydrocarbon Receptors (Aryl Hydrocarbon Receptor)IBA 10/2009 - 01/2002
2	Mercaptopurine (6 Mercaptopurine)FDA LinkGeneric 05/2008 - 01/2005
2	Methylenetetrahydrofolate Reductase (NADPH2) (Methylenetetrahydrofolate Reductase)IBA 05/2008 - 02/2006
2	Reduced Folate Carrier ProteinIBA 05/2008 - 02/2006
2	Biological ProductsIBA 02/2008 - 07/2003
1	Organic Anion TransportersIBA 09/2022
1	diphosphoric acid (pyrophosphoric acid)IBA 03/2022
1	Electron Transport Complex III (Coenzyme Q-Cytochrome-c Reductase)IBA 03/2022
1	Prealbumin (Transthyretin)IBA 03/2022
1	Collagen Type XIIBA 02/2022
1	Casein Kinase II (Casein Kinase 2)IBA 02/2022
1	Solute Carrier ProteinsIBA 01/2022

Therapy/Procedure

12	Therapeutics 01/2022 - 01/2005
4	Salpingo-oophorectomy 01/2022 - 05/2013
3	Ketogenic Diet 01/2022 - 01/2020
2	Critical Care (Surgical Intensive Care) 03/2022 - 06/2021
2	Lasers (Laser) 01/2022 - 01/2014
2	Liver Transplantation 01/2021 - 07/2011
2	Sutures (Suture) 12/2018 - 11/2014
2	Transplantation 01/2018 - 07/2010
1	Contraception (Birth Control) 05/2022
1	Gastrostomy 03/2022