Mingyan Fang Selected Research

Pontocerebellar Hypoplasia Type 1

11/2013

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3.

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Mingyan Fang Research Topics

Disease

3	Neoplasms (Cancer) 01/2022 - 10/2018
2	COVID-19 01/2022 - 01/2022
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2021 - 04/2016
2	Parkinsonian Disorders (Parkinsonism) 02/2016 - 09/2013
2	Mitochondrial Diseases (Mitochondrial Disease) 07/2015 - 11/2012
1	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 01/2022
1	Rare Diseases (Rare Disease) 01/2022
1	Critical Illness (Critically Ill) 01/2022
1	Primary Immunodeficiency Diseases 01/2022
1	Muscular Dystrophies (Muscular Dystrophy) 02/2021
1	Neuromuscular Diseases (Neuromuscular Disease) 01/2021
1	Retinitis Pigmentosa (Pigmentary Retinopathy) 12/2020
1	Optic Nerve Diseases (Optic Neuropathy) 01/2020
1	Precursor Cell Lymphoblastic Leukemia-Lymphoma (Acute Lymphoblastic Leukemia) 01/2020
1	Systemic Lupus Erythematosus (Libman-Sacks Disease) 01/2019
1	Myopia 01/2019
1	Rheumatoid Arthritis 01/2019
1	Autoimmune Diseases (Autoimmune Disease) 01/2019
1	Autoimmune Hemolytic Anemia (Cold Agglutinin Disease) 10/2018
1	Brugada Syndrome 01/2017
1	Hypoparathyroidism 01/2017
1	Hemophagocytic Lymphohistiocytosis (Hemophagocytic Syndrome) 04/2016
1	Leukoencephalopathies 03/2016
1	Agammaglobulinemia (Hypogammaglobulinemia) 01/2016
1	Diarrhea 01/2016
1	Chronic Progressive External Ophthalmoplegia (Progressive External Ophthalmoplegia) 07/2015
1	Mitochondrial Encephalomyopathies (Mitochondrial Encephalomyopathy) 07/2015
1	Arts syndrome 06/2015
1	Hearing Loss (Hearing Impairment) 06/2015
1	Down Syndrome Critical Region 02/2015
1	Pontocerebellar Hypoplasia Type 1 11/2013
1	Intellectual Disability (Idiocy) 11/2013
1	Hereditary Spastic Paraplegia 11/2013
1	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 11/2013
1	Atrophy 11/2013
1	Melanoma (Melanoma, Malignant) 09/2013
1	Astrocytoma (Pilocytic Astrocytoma) 05/2013

Drug/Important Bio-Agent (IBA)

7	Proteins (Proteins, Gene)FDA Link 01/2022 - 09/2013
3	RNA (Ribonucleic Acid)IBA 01/2022 - 01/2021
2	Biomarkers (Surrogate Marker)IBA 01/2022 - 01/2019
2	Pharmaceutical PreparationsIBA 01/2022 - 01/2021
2	Mitochondrial DNA (mtDNA)IBA 07/2015 - 11/2012
2	EnzymesIBA 06/2015 - 11/2012
1	Codon (Codons)IBA 01/2022
1	Tumor Biomarkers (Tumor Markers)IBA 01/2022
1	NucleotidesIBA 01/2022
1	DNA (Deoxyribonucleic Acid)IBA 01/2022
1	DystrophinIBA 02/2021
1	Biological ProductsIBA 01/2021
1	LectinsIBA 01/2021
1	c-Mer Tyrosine KinaseIBA 12/2020
1	Adenosine Triphosphatases (ATPase)IBA 01/2020
1	T-Cell Antigen Receptors (T-Cell Receptor)IBA 01/2019
1	Transcription Factors (Transcription Factor)IBA 01/2019
1	Blood Group Antigens (Blood Groups)IBA 10/2018
1	CalciumIBA 01/2017
1	Ion Channels (Ion Channel)IBA 01/2017
1	PerforinIBA 04/2016
1	Electron Transport Complex III (Coenzyme Q-Cytochrome-c Reductase)IBA 03/2016
1	Levodopa (L Dopa)FDA LinkGeneric 02/2016
1	Ribose-Phosphate Pyrophosphokinase (Phosphoribosyl Pyrophosphate Synthetase)IBA 06/2015
1	Inwardly Rectifying Potassium Channels (Inward Rectifier Potassium Channels)IBA 02/2015
1	AuxilinsIBA 09/2013
1	Protein Isoforms (Isoforms)IBA 05/2013

Therapy/Procedure

3	Therapeutics 01/2022 - 01/2017
1	Immunotherapy 01/2022
1	Precision Medicine 01/2021
1	Drug Therapy (Chemotherapy) 01/2020
1	Transjugular Intrahepatic Portasystemic Shunt 09/2013