Frances A High Selected Research

Protein Isoforms (Isoforms)

1/2023

De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.

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Frances A High Research Topics

Disease

4	Neurodevelopmental Disorders 01/2023 - 01/2018
2	Leigh Disease (Leigh's Disease) 01/2022 - 01/2020
1	Osteoporosis 10/2023
1	Weaver syndrome 01/2023
1	Cataract (Cataracts) 01/2023
1	Hernia (Hernias) 01/2023
1	Intellectual Disability (Idiocy) 01/2023
1	Microcephaly 01/2023
1	Muscular Dystrophies (Muscular Dystrophy) 01/2023
1	Seizures (Absence Seizure) 01/2023
1	B-Cell Lymphoma (Lymphoma, B Cell) 01/2023
1	Mitochondrial Diseases (Mitochondrial Disease) 01/2022
1	Meningioma (Meningiomas) 01/2020
1	Movement Disorders (Movement Disorder) 01/2019
1	Muscle Hypotonia (Hypotonia) 01/2019
1	Congenital Heart Defects (Congenital Heart Defect) 02/2008
1	Vascular Remodeling 02/2008
1	Persistent Truncus Arteriosus 11/2006

Drug/Important Bio-Agent (IBA)

2	Proteins (Proteins, Gene)FDA Link 10/2023 - 01/2022
1	NF-kappa B (NF-kB)IBA 01/2023
1	phosphatidylinositol 4-phosphateIBA 01/2023
1	MethyltransferasesIBA 01/2023
1	Phosphatidylinositols (Phosphatidylinositol)IBA 01/2023
1	Phosphoric Monoester Hydrolases (Phosphatases)IBA 01/2023
1	Protein Isoforms (Isoforms)IBA 01/2023
1	oligomycin sensitivity-conferring protein (complex V)IBA 01/2022
1	Factor VII (Proconvertin)IBA 01/2020
1	Adenosine Triphosphatases (ATPase)IBA 01/2020
1	Retinaldehyde (Retinal)IBA 01/2020
1	Tumor Necrosis Factor Receptors (Tumor Necrosis Factor Receptor)IBA 01/2020
1	Amino Acids FDA Link 01/2019
1	N-acetyltryptophanamide (NATA)IBA 01/2018
1	LigandsIBA 02/2008
1	Cadherins (E-Cadherin)IBA 11/2006