Fowzan S Alkuraya Selected Research

Neurodegenerative Diseases (Neurodegenerative Disease)

12/2020	Generation of iPSC lines (KAUSTi011-A, KAUSTi011-B) from a Saudi patient with epileptic encephalopathy carrying homozygous mutation in the GLP1R gene.
1/2011	Identification of differentially expressed proteins in the aqueous humor of primary congenital glaucoma.

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Fowzan S Alkuraya Research Topics

Disease

15	Microcephaly 12/2023 - 05/2011
13	Intellectual Disability (Idiocy) 01/2024 - 07/2013
11	Brain Diseases (Brain Disorder) 03/2024 - 10/2012
11	Ciliopathies 12/2023 - 08/2012
7	Cataract (Cataracts) 01/2021 - 07/2009
6	Neurodevelopmental Disorders 11/2023 - 11/2017
6	Agenesis of Cerebellar Vermis 01/2020 - 01/2014
6	Retinitis Pigmentosa (Pigmentary Retinopathy) 03/2016 - 03/2010
5	Seizures (Absence Seizure) 01/2019 - 10/2013
4	Epilepsy (Aura) 03/2024 - 01/2013
4	Ichthyosis (Xeroderma) 10/2023 - 11/2019
4	Retinal Dystrophies 08/2021 - 03/2010
4	Neoplasms (Cancer) 01/2021 - 10/2016
4	Muscle Hypotonia (Hypotonia) 12/2020 - 12/2017
3	Cholestasis 02/2021 - 01/2019
3	Deafness (Deaf Mutism) 11/2020 - 05/2009
3	Neoplasm Metastasis (Metastasis) 10/2020 - 01/2016
3	Mitochondrial Diseases (Mitochondrial Disease) 01/2018 - 10/2012
3	Dwarfism 04/2017 - 02/2015
3	Leber Congenital Amaurosis 06/2013 - 02/2010
2	Congenital Heart Defects (Congenital Heart Defect) 05/2024 - 05/2015
2	Hearing Loss (Hearing Impairment) 01/2022 - 01/2019
2	Liver Diseases (Liver Disease) 02/2021 - 01/2013
2	Carcinogenesis 01/2021 - 01/2016
2	Myopia 01/2021 - 01/2020
2	type 1 Stickler syndrome 01/2021 - 04/2015
2	Neurodegenerative Diseases (Neurodegenerative Disease) 12/2020 - 01/2011
2	Genomic Instability 01/2018 - 04/2017
2	Fibrosis (Cirrhosis) 01/2018 - 11/2013
2	Atrophy 12/2017 - 03/2010
2	Hydrocephalus (Hydrocephaly) 06/2017 - 01/2013
2	Rare Diseases (Rare Disease) 05/2017 - 01/2017
2	Meckel syndrome type 1 11/2016 - 01/2014
2	Adams Oliver syndrome 10/2016 - 08/2011
2	Pontocerebellar Hypoplasia 07/2016 - 01/2016
2	Neu Laxova syndrome 01/2016 - 06/2014
2	Congenital Abnormalities (Deformity) 10/2013 - 03/2008
2	congenital stationary Night blindness 03/2013 - 02/2010
2	Genetic Translocation (Chromosomal Translocation) 05/2007 - 09/2006
1	Movement Disorders (Movement Disorder) 03/2024
1	Cognitive Dysfunction 03/2024
1	Vitamin D Deficiency 01/2024
1	Muscular Diseases (Myopathy) 01/2024
1	Hypohidrosis 12/2023
1	Neutropenia 11/2023
1	Encephalitis (Encephalitis, Rasmussen) 10/2023
1	Retinoschisis (Retinoschisis, Juvenile) 09/2023
1	Proteinuria 09/2023
1	Retinal Detachment (Retinal Detachments) 09/2023
1	Hyperplasia 03/2023
1	Polymicrogyria 01/2023
1	Acute Liver Failure (Fulminant Hepatic Failure) 01/2023
1	Hidradenitis Suppurativa 01/2023
1	Congenital Disorders of Glycosylation 01/2023
1	Ectodermal Dysplasia (Aplasia Cutis Congenita) 01/2023
1	Fatty Liver 03/2022

Drug/Important Bio-Agent (IBA)

28	Proteins (Proteins, Gene)FDA Link 12/2023 - 01/2011
12	Retinaldehyde (Retinal)IBA 09/2023 - 02/2010
10	EnzymesIBA 10/2023 - 01/2013
8	Transfer RNA (tRNA)IBA 01/2022 - 10/2012
5	Transcription Factors (Transcription Factor)IBA 02/2021 - 05/2007
4	DNA (Deoxyribonucleic Acid)IBA 01/2018 - 03/2010
4	c-Mer Tyrosine KinaseIBA 03/2016 - 03/2010
3	CalciumIBA 03/2024 - 12/2015
3	Phosphotransferases (Kinase)IBA 01/2023 - 01/2016
3	Mitochondrial DNA (mtDNA)IBA 01/2018 - 04/2012
3	UbiquitinIBA 05/2017 - 09/2006
3	Crystallins (Crystallin)IBA 06/2012 - 07/2009
2	Adenosine Triphosphate (ATP)IBA 01/2024 - 04/2014
2	KATP ChannelsIBA 01/2024 - 04/2014
2	ChromatinIBA 11/2023 - 05/2015
2	GTP Phosphohydrolases (GTPases)IBA 01/2023 - 06/2013
2	diphthamideIBA 10/2022 - 01/2022
2	Leucine (L-Leucine)FDA Link 01/2022 - 11/2013
2	gamma-Glutamyltransferase (gamma-Glutamyl Transpeptidase)IBA 02/2021 - 01/2019
2	RNA (Ribonucleic Acid)IBA 01/2021 - 12/2018
2	CollagenIBA 01/2021 - 01/2018
2	Fatty Acids (Saturated Fatty Acids)IBA 01/2019 - 01/2017
2	KinesinsIBA 01/2019 - 01/2015
2	Neural Cell Adhesion Molecule L1 (L1 Cell Adhesion Molecule)IBA 06/2017 - 01/2013
2	splicing endonucleaseIBA 07/2016 - 01/2016
2	Serine (L-Serine)FDA Link 01/2016 - 06/2014
2	Monomeric GTP-Binding ProteinsIBA 06/2014 - 07/2012
2	CholesterolIBA 05/2013 - 08/2005
2	Calcium-Binding ProteinsIBA 03/2013 - 02/2010
2	LipidsIBA 01/2013 - 06/2012
2	Mydriatics (Cycloplegics)IBA 05/2012 - 03/2012
1	4-amino-4'-hydroxylaminodiphenylsulfone (HADS)IBA 05/2024
1	Cyclic NucleotidesIBA 03/2024
1	Vitamin D-Binding ProteinIBA 01/2024
1	PotassiumIBA 01/2024
1	ElectrolytesIBA 12/2023
1	Colony-Stimulating Factors (Colony Stimulating Factor)IBA 11/2023
1	Collodion (Nitrocellulose)IBA 10/2023
1	Laminin (Merosin)IBA 09/2023
1	prostasinIBA 04/2023
1	Glial Cell Line-Derived Neurotrophic Factor (GDNF)IBA 03/2023
1	Cysteine (L-Cysteine)FDA Link 01/2023
1	Polysaccharides (Glycans)IBA 01/2023

Therapy/Procedure

6	Therapeutics 10/2020 - 04/2012