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Kenjiro Kosaki Selected Research

Undiagnosed Diseases

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

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Kenjiro Kosaki Research Topics

Disease

10Neoplasms (Cancer)
05/2022 - 12/2013
8Intellectual Disability (Idiocy)
12/2022 - 04/2012
7CHARGE Syndrome
11/2017 - 09/2005
5Hearing Loss (Hearing Impairment)
02/2022 - 10/2013
5Craniosynostoses (Craniosynostosis)
11/2021 - 03/2007
4Mitochondrial Diseases (Mitochondrial Disease)
03/2022 - 01/2019
4Undiagnosed Diseases
01/2022 - 12/2015
4Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
01/2022 - 09/2005
4Ovarian Neoplasms (Ovarian Cancer)
02/2021 - 05/2013
4Coloboma (Colobomas)
01/2021 - 12/2005
4Epilepsy (Aura)
01/2021 - 12/2004
3Hypertelorism
04/2024 - 03/2007
3Seizures (Absence Seizure)
02/2024 - 01/2020
3Neurodegenerative Diseases (Neurodegenerative Disease)
01/2024 - 10/2017
3Intracranial Aneurysm (Cerebral Aneurysm)
01/2023 - 01/2015
3Noonan Syndrome (Female Pseudo-Turner Syndrome)
01/2022 - 08/2002
3Microcephaly
01/2022 - 08/2014
3Lymphoma (Lymphomas)
10/2020 - 02/2006
3Precursor Cell Lymphoblastic Leukemia-Lymphoma (Acute Lymphoblastic Leukemia)
05/2008 - 01/2005
2Porokeratosis (Palmoplantar Porokeratosis)
04/2024 - 12/2019
2Anemia
06/2023 - 09/2022
2Liver Diseases (Liver Disease)
11/2022 - 01/2021
2Multiple Organ Failure (MODS)
03/2022 - 06/2021
2Rheumatoid Arthritis
02/2022 - 01/2005
2Hypoglycemia (Reactive Hypoglycemia)
06/2021 - 01/2017
2Dyskinesias (Dyskinesia)
04/2021 - 01/2019
2Breast Neoplasms (Breast Cancer)
02/2021 - 05/2013
2Liver Failure
01/2021 - 07/2011
2Endometrial Neoplasms (Endometrial Cancer)
01/2021 - 08/2020
2Diabetes Mellitus
02/2020 - 01/2017
2Carcinogenesis
12/2019 - 01/2017
2Premature Aging
12/2019 - 09/2017
2Diarrhea
01/2019 - 12/2013
2DiGeorge Syndrome (Syndrome, DiGeorge)
01/2019 - 07/2010
2Cleidocranial Dysplasia (Cleidocranial Dysostosis)
01/2018 - 02/2006
2Vomiting
08/2016 - 02/2006
2Clubfoot (Talipes Equinovarus)
10/2015 - 05/2014
2Loeys-Dietz Syndrome
10/2015 - 07/2013
2Hirschsprung Disease (Hirschsprung's Disease)
08/2014 - 04/2012
2Hypertension (High Blood Pressure)
05/2013 - 11/2010
2Hydrocephalus (Hydrocephaly)
04/2012 - 09/2004
2Marfan Syndrome (Marfan's Syndrome)
02/2008 - 09/2005
2Rubinstein-Taybi Syndrome (Syndrome, Rubinstein-Taybi)
12/2005 - 09/2005
2Penis agenesis
07/2003 - 01/2002
1Holoprosencephaly (Arhinencephaly)
04/2024
1Infantile Epileptic-Dyskinetic Encephalopathy
02/2024
1Aarskog Syndrome
01/2024
1Retinitis Pigmentosa (Pigmentary Retinopathy)
12/2023
1syndromic 2 Microphthalmia
06/2023
1Parkinsonian Disorders (Parkinsonism)
06/2023
1Central Sleep Apnea (Central Sleep Apnea Syndrome)
06/2023
1Pyruvate Dehydrogenase Complex Deficiency Disease
06/2023
1Spinocerebellar Ataxias (Spinocerebellar Ataxia)
06/2023

Drug/Important Bio-Agent (IBA)

16Proteins (Proteins, Gene)FDA Link
01/2024 - 01/2002
9EnzymesIBA
11/2022 - 07/2003
5Retinaldehyde (Retinal)IBA
12/2023 - 12/2005
5DNA (Deoxyribonucleic Acid)IBA
05/2022 - 01/2002
4Platelet-Derived Growth Factor beta Receptor (Receptor, Platelet Derived Growth Factor beta)IBA
01/2023 - 09/2017
4Nonsense Codon (Nonsense Mutation)IBA
11/2021 - 08/2014
4DNA HelicasesIBA
04/2014 - 01/2006
3Anticonvulsants (Antiepileptic Drugs)IBA
02/2024 - 01/2019
3Growth Hormone (Somatotropin)IBA
01/2022 - 07/2017
3Methotrexate (Mexate)FDA LinkGeneric
01/2019 - 02/2006
3Uridine Diphosphate (UDP)IBA
01/2017 - 12/2013
3Carrier Proteins (Binding Protein)IBA
04/2014 - 01/2006
2Mevalonic Acid (Mevalonate)IBA
04/2024 - 12/2019
2Adrenocorticotropic Hormone (ACTH)FDA Link
02/2024 - 01/2020
2MicroRNAs (MicroRNA)IBA
01/2023 - 06/2019
2Amino AcidsFDA Link
10/2022 - 08/2016
2CREB-Binding ProteinIBA
01/2022 - 12/2005
2IronIBA
03/2021 - 02/2015
2Mitochondrial DNA (mtDNA)IBA
01/2021 - 01/2017
2Risperidone (Risperdal Consta)FDA LinkGeneric
08/2020 - 06/2009
2Estradiol (Delestrogen)FDA LinkGeneric
01/2018 - 06/2016
2Transcription Factors (Transcription Factor)IBA
01/2018 - 06/2017
2ChromatinIBA
11/2017 - 06/2017
2Transforming Growth Factor-beta Type II ReceptorIBA
10/2015 - 07/2013
2polyalanineIBA
12/2014 - 03/2002
2Methimazole (Thiamazole)FDA LinkGeneric
06/2013 - 12/2005
2Aryl Hydrocarbon Receptors (Aryl Hydrocarbon Receptor)IBA
10/2009 - 01/2002
2Mercaptopurine (6 Mercaptopurine)FDA LinkGeneric
05/2008 - 01/2005
2Methylenetetrahydrofolate Reductase (NADPH2) (Methylenetetrahydrofolate Reductase)IBA
05/2008 - 02/2006
2Reduced Folate Carrier ProteinIBA
05/2008 - 02/2006
1Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA
04/2024
1SterolsIBA
04/2024
1Zonisamide (Zonegran)FDA LinkGeneric
02/2024
1Vitamin B 6IBA
02/2024
1Cysteine (L-Cysteine)FDA Link
01/2024
1GTP Phosphohydrolases (GTPases)IBA
12/2023
1Co-Repressor ProteinsIBA
06/2023
1Levodopa (L Dopa)FDA LinkGeneric
06/2023

Therapy/Procedure

13Therapeutics
02/2024 - 01/2005
4Ketogenic Diet
06/2023 - 01/2020
4Salpingo-oophorectomy
01/2022 - 05/2013
2Critical Care (Surgical Intensive Care)
03/2022 - 06/2021
2Lasers (Laser)
01/2022 - 01/2014
2Liver Transplantation
01/2021 - 07/2011
2Sutures (Suture)
12/2018 - 11/2014
2Transplantation
01/2018 - 07/2010
1Diet Therapy (Therapy, Diet)
06/2023