Frans P M Cremers Selected Research

Stargardt Disease

3/2024	Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare ABCA4 Variant in a Child with Early-Onset Stargardt Disease.
12/2023	Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c.4253+43G>A.
1/2023	Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function.
1/2023	ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease.
9/2020	Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease.
1/2020	A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).
12/2019	Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4.
11/2019	Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland.
1/2019	Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.
1/2016	Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease.

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Frans P M Cremers Research Topics

Disease

25	Retinitis Pigmentosa (Pigmentary Retinopathy) 11/2022 - 12/2005
14	Macular Degeneration (Age-Related Maculopathy) 12/2023 - 01/2002
12	Leber Congenital Amaurosis 01/2018 - 09/2006
11	Stargardt Disease 03/2024 - 11/2007
11	Retinal Degeneration 09/2016 - 01/2002
9	Retinal Dystrophies 01/2022 - 03/2008
8	Retinal Diseases 12/2019 - 04/2003
8	Ciliopathies 01/2019 - 01/2009
7	Atrophy 08/2023 - 02/2005
6	Cone-Rod Dystrophies 01/2023 - 10/2012
6	Usher Syndromes (Usher Syndrome) 01/2023 - 07/2004
6	Hearing Loss (Hearing Impairment) 07/2020 - 02/2003
5	Blindness (Hysterical Blindness) 01/2019 - 11/2006
4	Choroideremia 01/2018 - 08/2003
4	Cone Dystrophy 08/2014 - 04/2009
3	Familial Exudative Vitreoretinopathies 12/2018 - 02/2010
2	Disease Progression 01/2022 - 11/2019
2	Inborn Genetic Diseases (Disease, Hereditary) 01/2019 - 07/2007
2	Retinal Detachment (Retinal Detachments) 03/2014 - 02/2010
2	Mevalonate Kinase Deficiency 03/2014 - 12/2013
2	Renal Insufficiency (Renal Failure) 12/2013 - 02/2011
2	Oguchi disease 01/2012 - 09/2009
2	type 1 Stickler syndrome 07/2011 - 09/2003
2	Agenesis of Cerebellar Vermis 02/2010 - 07/2007
2	Nonsyndromic Deafness 01/2008 - 07/2007
1	Diabetic Retinopathy (Retinopathy, Diabetic) 01/2022
1	type 2A Usher syndrome 05/2016
1	Congenital Disorders of Glycosylation 12/2015
1	Seizures (Absence Seizure) 12/2015
1	Mucopolysaccharidosis III (Sanfilippo Syndrome) 07/2015
1	Headache (Headaches) 10/2014
1	Photophobia (Light Sensitivity) 10/2014
1	Scotoma (Scintillating Scotoma) 10/2014
1	Hereditary macular coloboma 07/2014
1	Ataxia (Dyssynergia) 12/2013
1	Uniparental Disomy 06/2013
1	Color Vision Defects (Color Blindness) 09/2012
1	Hyperhomocysteinemia 01/2012
1	Sudden Death 02/2011
1	Retinitis Pigmentosa 2 01/2011
1	Microcephaly 09/2010
1	Intellectual Disability (Idiocy) 09/2010
1	Norrie disease 06/2010
1	Kidney Diseases (Kidney Disease) 02/2010
1	Spastic ataxia Charlevoix-Saguenay type 11/2009
1	Vision Disorders (Hemeralopia) 07/2008
1	Autosomal Dominant 15 Deafness 04/2008

Drug/Important Bio-Agent (IBA)

36	Retinaldehyde (Retinal)IBA 12/2023 - 06/2002
34	Proteins (Proteins, Gene)FDA Link 09/2020 - 09/2003
10	DNA (Deoxyribonucleic Acid)IBA 01/2020 - 01/2002
8	Nonsense Codon (Nonsense Mutation)IBA 08/2017 - 07/2007
6	PeripherinsIBA 04/2009 - 01/2002
4	Antisense OligonucleotidesIBA 03/2024 - 01/2018
4	NucleotidesIBA 01/2023 - 08/2006
3	ATP-Binding Cassette Transporters (ABC Transporters)IBA 01/2023 - 11/2019
3	Adenosine Triphosphate (ATP)IBA 09/2020 - 07/2004
3	Messenger RNA (mRNA)IBA 01/2016 - 08/2003
3	GTP Phosphohydrolases (GTPases)IBA 03/2014 - 12/2005
2	RNA Splice SitesIBA 05/2016 - 08/2006
2	mevalonate kinaseIBA 03/2014 - 12/2013
2	Protein Isoforms (Isoforms)IBA 01/2009 - 08/2006
2	c-Mer Tyrosine KinaseIBA 07/2008 - 09/2005
1	RNA Precursors (Precursor, mRNA)IBA 11/2022
1	Biomarkers (Surrogate Marker)IBA 11/2019
1	Chloride Channels (Chloride Channel)IBA 01/2018
1	TubulinIBA 11/2016
1	GTP-Binding Proteins (G-Protein)IBA 11/2016
1	G-Protein-Coupled Receptors (Receptors, G Protein Coupled)IBA 01/2016
1	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 12/2015
1	AcetyltransferasesIBA 07/2015
1	Lysosomal Membrane ProteinsIBA 01/2015
1	Aspartate Aminotransferases (Aspartate Transaminase)IBA 10/2014
1	Triglycerides (Triacylglycerol)IBA 10/2014
1	RetinoidsIBA 10/2014
1	retinol acetateIBA 10/2014
1	IgA receptor (protein B)IBA 08/2014
1	RNA Splicing FactorsIBA 07/2014
1	Macular PigmentIBA 05/2014
1	Type 6 Cyclic Nucleotide PhosphodiesterasesIBA 03/2014
1	TransducinIBA 03/2014
1	Nicotinamide-Nucleotide AdenylyltransferaseIBA 01/2014
1	Mevalonic Acid (Mevalonate)IBA 12/2013
1	Monomeric GTP-Binding ProteinsIBA 07/2013
1	Amino Acids FDA Link 06/2013
1	G-Protein-Coupled Receptor Kinase 1 (G Protein-Coupled Receptor Kinase 1)IBA 01/2012
1	ArrestinIBA 01/2012
1	AntigensIBA 01/2012
1	Methylenetetrahydrofolate Reductase (NADPH2) (Methylenetetrahydrofolate Reductase)IBA 01/2012
1	Protein Serine-Threonine Kinases (Protein-Serine-Threonine Kinase)IBA 09/2011
1	Transcription Factors (Transcription Factor)IBA 08/2011
1	ElectrolytesIBA 02/2011
1	laminin AIBA 12/2010
1	retinol dehydrogenaseIBA 12/2010
1	ceramide kinaseIBA 12/2010
1	Proteoglycans (Proteoglycan)IBA 08/2010
1	Wnt ReceptorsIBA 06/2010
1	LDL Receptors (LDL Receptor)IBA 06/2010
1	LigandsIBA 06/2010
1	OpsinsIBA 12/2009

Therapy/Procedure

4	Therapeutics 01/2019 - 10/2012