Jay Shendure Selected Research

Type C Niemann-Pick Disease (Niemann Pick Disease, Type C)

11/2016

Genome sequencing in a case of Niemann-Pick type C.

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Jay Shendure Research Topics

Disease

14	Neoplasms (Cancer) 05/2024 - 10/2011
5	Infections 01/2024 - 03/2014
4	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2019 - 04/2013
3	Glioblastoma (Glioblastoma Multiforme) 01/2024 - 01/2016
3	Thoracic Aortic Aneurysm 01/2015 - 09/2011
2	Rett Syndrome (Rett's Disorder) 01/2020 - 09/2013
2	Retinoblastoma (Glioblastoma, Retinal) 01/2020 - 04/2016
2	Insulin Resistance 01/2020 - 01/2016
2	Intellectual Disability (Idiocy) 11/2017 - 11/2014
2	Inborn Genetic Diseases (Disease, Hereditary) 11/2017 - 01/2015
2	Congenital Disorders of Glycosylation 11/2017 - 01/2016
2	Prostatic Neoplasms (Prostate Cancer) 04/2016 - 10/2011
2	Aortic Diseases 03/2016 - 01/2015
2	Aortic Dissection 03/2016 - 09/2011
2	Hemimegalencephaly 06/2015 - 04/2015
2	Epilepsy (Aura) 06/2015 - 04/2015
2	Carcinoma (Carcinomatosis) 06/2015 - 10/2011
2	Autistic Disorder (Autism) 09/2014 - 04/2012
2	Megalencephaly 08/2014 - 06/2012
2	Kabuki syndrome 06/2014 - 07/2011
2	Familial Thoracic 1 Aortic Aneurysm 02/2014 - 09/2011
1	Skin Diseases (Skin Disease) 05/2024
1	Leukemia 02/2024
1	Acute Myeloid Leukemia (Acute Myelogenous Leukemia) 02/2024
1	Human Influenza (Influenza) 01/2023
1	Carcinogenesis 10/2022
1	Fibrosis (Cirrhosis) 10/2021
1	Wounds and Injuries (Trauma) 10/2021
1	COVID-19 10/2021
1	Glioma (Gliomas) 12/2020
1	Type 2 Diabetes Mellitus (MODY) 01/2020
1	Disease Susceptibility (Diathesis) 01/2020
1	Chondrosarcoma 01/2019
1	Heart Failure 01/2019
1	Osteoarthritis 01/2019
1	Laminopathies 01/2019
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 01/2019
1	Osteosarcoma (Osteogenic Sarcoma) 01/2019
1	Tuberculosis (Tuberculoses) 10/2018
1	Hepatitis B 10/2018
1	Virus Diseases (Viral Diseases) 10/2018
1	Brain Diseases (Brain Disorder) 11/2017
1	Lesch-Nyhan Syndrome (Choreoathetosis Self Mutilation Hyperuricemia Syndrome) 08/2017
1	Hemophilia A (Haemophilia) 05/2017
1	Hemophilia B (Haemophilia B) 05/2017
1	Colorectal Neoplasms (Colorectal Cancer) 11/2016
1	Splenomegaly 11/2016
1	Microsatellite Instability 11/2016
1	Type C Niemann-Pick Disease (Niemann Pick Disease, Type C) 11/2016
1	Neonatal Jaundice 11/2016
1	Cutis Laxa 05/2016
1	Fanconi Anemia (Fanconi's Anemia) 04/2016
1	Neoplasm Metastasis (Metastasis) 04/2016

Drug/Important Bio-Agent (IBA)

10	Proteins (Proteins, Gene)FDA Link 10/2021 - 07/2011
9	DNA (Deoxyribonucleic Acid)IBA 05/2024 - 01/2014
8	ChromatinIBA 02/2024 - 07/2011
4	Phosphotransferases (Kinase)IBA 01/2024 - 06/2015
4	Transcription Factors (Transcription Factor)IBA 10/2021 - 04/2013
4	CholesterolIBA 01/2020 - 11/2010
4	Cell-Free Nucleic AcidsIBA 01/2018 - 04/2015
3	RNA (Ribonucleic Acid)IBA 10/2021 - 04/2016
3	NucleotidesIBA 01/2019 - 11/2016
3	Protein Kinases (Protein Kinase)IBA 11/2017 - 08/2012
2	AntigensIBA 01/2024 - 01/2012
2	Mitogen-Activated Protein Kinase Kinases (MEKs)IBA 01/2024 - 06/2023
2	Receptor Protein-Tyrosine Kinases (Tyrosine Kinase Receptors)IBA 01/2024 - 06/2023
2	Antiviral Agents (Antivirals)IBA 01/2023 - 08/2012
2	Protein Isoforms (Isoforms)IBA 10/2022 - 01/2019
2	1,2- di- (4- sulfamidophenyl)- 4- butylpyrazolidine- 3,5- dione (DSB)IBA 01/2020 - 01/2019
2	Methyl-CpG-Binding Protein 2IBA 01/2020 - 09/2013
2	signal sequence receptorIBA 01/2019 - 03/2014
2	Transferrin (beta 2 Transferrin)IBA 01/2017 - 11/2015
2	LipidsIBA 11/2016 - 01/2016
2	RNA Precursors (Precursor, mRNA)IBA 08/2015 - 05/2012
2	1,3,4,6- tetra- O- acetyl- 2- azido- 2- deoxyglucopyranose (TAAD)IBA 02/2014 - 09/2011
1	Myeloid Ecotropic Viral Integration Site 1 ProteinIBA 02/2024
1	NF-kappa B (NF-kB)IBA 06/2023
1	baloxavirIBA 01/2023
1	Oseltamivir (Tamiflu)FDA Link 01/2023
1	TropomyosinIBA 10/2022
1	Nerve Growth Factor Receptors (Neurotrophin Receptors)IBA 10/2022
1	Verteporfin (Visudyne)FDA Link 10/2021
1	Glucose (Dextrose)FDA LinkGeneric 10/2021
1	Carrier Proteins (Binding Protein)IBA 01/2020
1	Histone Deacetylase InhibitorsIBA 01/2020
1	Acetates (Acetic Acid Esters)FDA Link 01/2020
1	Blood Glucose (Blood Sugar)IBA 01/2020
1	EndonucleasesIBA 01/2020
1	Nuclear Proteins (Protein, Nuclear)IBA 01/2019
1	Lamin Type A (Lamin A)IBA 01/2019
1	LaminsIBA 01/2019
1	Piwi-Interacting RNAIBA 10/2018
1	Viral DNAIBA 10/2018
1	Cytidine Monophosphate N-Acetylneuraminic AcidIBA 11/2017
1	SugarsIBA 11/2017
1	DNA Transposable Elements (Element, IS)IBA 08/2017
1	Vacuolar Proton-Translocating ATPases (V-Type ATPase)IBA 05/2016

Therapy/Procedure

5	Therapeutics 02/2024 - 10/2011
1	Radiotherapy 12/2020
1	Precision Medicine 01/2018