Hans van Bokhoven Selected Research

Propping Zerres syndrome

8/2006	Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene.
4/2002	Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63.

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Hans van Bokhoven Research Topics

Disease

27	Intellectual Disability (Idiocy) 01/2022 - 01/2004
10	Kleefstra Syndrome 10/2019 - 07/2012
8	Neurodevelopmental Disorders 01/2022 - 10/2016
7	Muscular Dystrophies (Muscular Dystrophy) 01/2021 - 05/2012
7	Walker-Warburg Syndrome 10/2019 - 11/2002
7	Ectodermal Dysplasia (Aplasia Cutis Congenita) 12/2018 - 07/2006
4	Schizophrenia (Dementia Praecox) 01/2022 - 06/2015
4	Hearing Loss (Hearing Impairment) 01/2022 - 04/2010
4	Muscle Hypotonia (Hypotonia) 01/2018 - 04/2010
4	Congenital Disorders of Glycosylation 08/2013 - 07/2010
4	Neoplasms (Cancer) 04/2013 - 09/2005
3	Limb-Girdle Muscular Dystrophies (Limb-Girdle Muscular Dystrophy) 10/2019 - 07/2013
3	Ectrodactyly 12/2018 - 08/2009
3	Microcephaly 01/2015 - 09/2010
3	X-Linked Mental Retardation (Mental Retardation, X Linked) 02/2006 - 08/2002
2	Epilepsy (Aura) 01/2021 - 01/2019
2	Seizures (Absence Seizure) 10/2019 - 01/2018
2	Cleft Lip (Harelip) 12/2018 - 03/2012
2	Ectrodactyly-cleft lip-palate syndrome 12/2018 - 04/2002
2	Cognitive Dysfunction 01/2018 - 10/2015
2	Autistic Disorder (Autism) 01/2017 - 05/2013
2	Cataract (Cataracts) 02/2015 - 11/2010
2	Cleft Palate (Palate, Cleft) 03/2012 - 05/2010
2	Glaucoma 11/2010 - 08/2005
2	Propping Zerres syndrome 08/2006 - 04/2002
2	Facial Paralysis (Facial Palsy) 08/2005 - 07/2005
1	Chromosome 17q21.31 Deletion Syndrome 01/2022
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2021
1	Muscular Diseases (Myopathy) 10/2019
1	Bone Resorption 01/2019
1	Mental Disorders (Mental Disorder) 01/2018
1	Autism Spectrum Disorder 10/2017
1	Nervous System Diseases (Neurological Disorders) 09/2017
1	type 2 Rhizomelic chondrodysplasia punctata 01/2017
1	Malformed Nails (Pachyonychia) 02/2016
1	Cocaine-Related Disorders (Cocaine Addiction) 10/2015
1	Brain Diseases (Brain Disorder) 02/2015
1	Movement Disorders (Movement Disorder) 02/2015
1	Leukemia 02/2015
1	Neutropenia 02/2015
1	Atrophy 02/2015

Drug/Important Bio-Agent (IBA)

14	Proteins (Proteins, Gene)FDA Link 11/2019 - 09/2005
9	Histone MethyltransferasesIBA 10/2019 - 03/2010
8	Transcription Factors (Transcription Factor)IBA 12/2019 - 08/2005
7	EuchromatinIBA 01/2018 - 03/2010
7	Dystroglycans (Dystroglycan)IBA 12/2017 - 05/2006
5	DNA (Deoxyribonucleic Acid)IBA 12/2018 - 04/2002
4	Histones (Histone)IBA 01/2022 - 10/2015
4	ChromatinIBA 01/2020 - 07/2012
3	Nonsense Codon (Nonsense Mutation)IBA 01/2015 - 02/2006
3	Protein Isoforms (Isoforms)IBA 05/2013 - 07/2008
2	Lysine (L-Lysine)FDA Link 01/2022 - 01/2022
2	NucleotidesIBA 04/2013 - 08/2005
2	Uric Acid (Urate)IBA 02/2012 - 04/2010
2	Retinaldehyde (Retinal)IBA 11/2010 - 09/2010
2	S-Adenosylmethionine (Ademetionine)IBA 04/2010 - 08/2004
2	Insulin (Novolin)FDA Link 08/2009 - 06/2009
1	Buthionine SulfoximineIBA 01/2022
1	Superoxide Dismutase-1IBA 01/2022
1	Reactive Oxygen Species (Oxygen Radicals)IBA 01/2022
1	Synapsins (Synapsin I)IBA 01/2022
1	Microtubule-Associated Proteins (Microtubule-Associated Protein 2)IBA 01/2022
1	acetovanillone (apocynin)IBA 01/2022
1	bafilomycin A1IBA 01/2022
1	MethyltransferasesIBA 01/2022
1	WortmanninIBA 01/2022
1	Lysosomal-Associated Membrane Protein 1IBA 01/2022
1	Sirolimus (Rapamycin)FDA Link 01/2022
1	Phosphotransferases (Kinase)IBA 01/2022
1	Transfer RNA (tRNA)IBA 01/2022
1	Complement System Proteins (Complement)IBA 11/2021
1	MannosidasesIBA 01/2021
1	Adaptor Protein Complex 1IBA 01/2021
1	Histone DemethylasesIBA 12/2019
1	Cytidine Diphosphate (CDP)IBA 10/2019
1	Ribose (D-Ribose)IBA 10/2019
1	RibitolIBA 10/2019
1	cytidine diphosphate ribitolIBA 10/2019
1	COOH-terminal signal transamidaseIBA 01/2019
1	Aspartic Acid (Aspartate)FDA Link 01/2019
1	Serine (L-Serine)FDA Link 01/2019
1	Wiskott-Aldrich Syndrome Protein FamilyIBA 01/2018
1	ProtocadherinsIBA 01/2018
1	ParvalbuminsIBA 01/2018
1	Monomeric GTP-Binding ProteinsIBA 09/2017
1	Valproic Acid (Depakote)FDA LinkGeneric 01/2017
1	Untranslated RNA (Noncoding RNA)IBA 01/2017
1	AcyltransferasesIBA 01/2017
1	Protein Kinases (Protein Kinase)IBA 02/2016
1	MicroRNAs (MicroRNA)IBA 06/2015
1	3-methylglutaconic acidIBA 02/2015
1	Messenger RNA (mRNA)IBA 02/2015
1	Cullin Proteins (Cullins)IBA 01/2015
1	beta CateninIBA 01/2015
1	KinesinsIBA 07/2014
1	SandIBA 05/2014
1	DystrophinIBA 04/2014

Therapy/Procedure

3	Therapeutics 12/2019 - 09/2005
1	Electrodes (Electrode) 01/2022
1	Cell- and Tissue-Based Therapy (Cell Therapy) 01/2021