Publications by authors named "Hanka Venselaar"

100Publications

Novel GANAB variants associated with polycystic liver disease.

Orphanet J Rare Dis 2020 10 23;15(1):302. Epub 2020 Oct 23.

Department of Gastroenterology and Hepatology, Institute for Molecular Life Sciences, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.

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October 2020

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

Am J Hum Genet 2020 07 17;107(1):164-172. Epub 2020 Jun 17.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, the Netherlands.

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July 2020

Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features.

Pharmaceuticals (Basel) 2019 Sep 9;12(3). Epub 2019 Sep 9.

Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud University Medical Center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

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September 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 May 2;10(1):2079. Epub 2019 May 2.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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May 2019

Investigating the active site of human trimethyllysine hydroxylase.

Biochem J 2019 04 10;476(7):1109-1119. Epub 2019 Apr 10.

Institute for Molecules and Materials, Radboud University, Nijmegen, The Netherlands

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April 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 02 15;10(1):883. Epub 2019 Feb 15.

CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.

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February 2019

Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin.

Genet Med 2019 07 14;21(7):1559-1567. Epub 2018 Nov 14.

Department of Dermatology, Radboud Institute for Molecular Life Sciences (RIMLS), Radboud University Nijmegen Medical Center (Radboudumc), Nijmegen, The Netherlands.

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July 2019

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2018 11 5;9(1):4619. Epub 2018 Nov 5.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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November 2018

Functional characterization of TBR1 variants in neurodevelopmental disorder.

Sci Rep 2018 09 24;8(1):14279. Epub 2018 Sep 24.

Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6525 XD, Nijmegen, The Netherlands.

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September 2018

Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene.

Mol Genet Genomic Med 2018 05 24;6(3):393-400. Epub 2018 Mar 24.

Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands.

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May 2018

Mutations in Causing a Novel Orthostatic Hypotension Syndrome.

Circ Res 2018 03 17;122(6):846-854. Epub 2018 Jan 17.

From the Department of Cardiology (M.P.v.d.B., P.v.d.H., H.H.W.S., I.M.L.), Laboratory Medicine (M.v.F., I.P.K.), Department of Nephrology (G.N.), Department of Neurology (G.J.L.), and Department of Genetics (P.A.v.d.Z., J.D.H.J.), University Medical Center Groningen, University of Groningen, The Netherlands; Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, Jordan University of Science and Technology, Irbid (R.A.); Division of Clinical Pharmacology, Vanderbilt University, Medical Center, Nashville, TN (I.B.); Department of Internal Medicine, Medical Center Leeuwarden, The Netherlands (M.H.H.); Department of Genetics (A.P.M.d.B.), Centre for Molecular and Biomolecular Informatics (H.V.), and Translational Metabolic Laboratory, Department of Laboratory Medicine (M.M.V., R.A.W.), Radboud University Medical Center Nijmegen, The Netherlands; and Department of Genetics, Academic Medical Center, University of Amsterdam, The Netherlands (J.P.v.T.).

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March 2018

Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes.

Am J Hum Genet 2017 Sep 31;101(3):478-484. Epub 2017 Aug 31.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands. Electronic address:

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September 2017

Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnostics.

Hum Mutat 2017 11 31;38(11):1454-1463. Epub 2017 Aug 31.

Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, GA, 6525, The Netherlands.

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November 2017

A Gate Hinge Controls the Epithelial Calcium Channel TRPV5.

Sci Rep 2017 04 4;7:45489. Epub 2017 Apr 4.

Department of Physiology, Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands.

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April 2017

Retinal-Based Proton Pumping in the Near Infrared.

J Am Chem Soc 2017 02 2;139(6):2338-2344. Epub 2017 Feb 2.

Leiden Institute of Chemistry, Leiden University , 2333 CC Leiden, The Netherlands.

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February 2017

Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa.

Invest Ophthalmol Vis Sci 2016 Nov;57(14):6180-6187

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands 13Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, The Netherlands.

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November 2016

Highly conserved nucleotide phosphatase essential for membrane lipid homeostasis in Streptococcus pneumoniae.

Mol Microbiol 2016 07 19;101(1):12-26. Epub 2016 Feb 19.

Laboratory of Pediatric Infectious Diseases, Department of Pediatrics, Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands.

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July 2016

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.

Am J Hum Genet 2015 Nov 29;97(5):647-60. Epub 2015 Oct 29.

Hearing & Genes Division, Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; The Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525GA, the Netherlands. Electronic address:

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November 2015

Whole exome sequencing identifies a heterozygous missense variant in the PRDM5 gene in a family with Axenfeld-Rieger syndrome.

Neurogenetics 2016 Jan 21;17(1):17-23. Epub 2015 Oct 21.

Department of Ophthalmology, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.

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January 2016

A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome.

Hum Mol Genet 2015 Dec 22;24(23):6565-79. Epub 2015 Sep 22.

Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, UK.

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December 2015

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Am J Hum Genet 2015 Aug 30;97(2):343-52. Epub 2015 Jul 30.

Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address:

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August 2015

LRP5 variants may contribute to ADPKD.

Eur J Hum Genet 2016 Feb 29;24(2):237-42. Epub 2015 Apr 29.

Department of Gastroenterology and Hepatology, Institute for Genetic & Metabolic Disease (IGMD), Radboud Institute for Molecular LifeSciences (RIMLS), Radboud university medical center, Nijmegen, The Netherlands.

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February 2016

Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems.

Am J Hum Genet 2015 Mar 19;96(3):386-96. Epub 2015 Feb 19.

Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen 6500 HB, the Netherlands; Department of Cognitive Neurosciences, Donders Institute for Brain, Cognition, and Behavior, Radboud university medical center, Nijmegen 6500 HB, the Netherlands. Electronic address:

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March 2015

Modulation of spectral properties and pump activity of proteorhodopsins by retinal analogues.

Biochem J 2015 Apr;467(2):333-43

*Department of Biophysical Organic Chemistry, Leiden Institute of Chemistry, Gorlaeus Laboratories, Leiden University, P.O. Box 9502, 2300 RA Leiden, The Netherlands.

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April 2015

Submembranous recruitment of creatine kinase B supports formation of dynamic actin-based protrusions of macrophages and relies on its C-terminal flexible loop.

Eur J Cell Biol 2015 Feb 24;94(2):114-27. Epub 2014 Nov 24.

Department of Cell Biology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands. Electronic address:

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February 2015

Gene polymorphisms in pattern recognition receptors and susceptibility to idiopathic recurrent vulvovaginal candidiasis.

Front Microbiol 2014 23;5:483. Epub 2014 Sep 23.

Department of Internal Medicine, Radboud University Medical Center Nijmegen, Netherlands ; Nijmegen Institute for Infection, Inflammation and Immunity (N4i), Radboud University Medical Center Nijmegen, Netherlands.

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October 2014

A dsRNA-binding protein of a complex invertebrate DNA virus suppresses the Drosophila RNAi response.

Nucleic Acids Res 2014 Oct 1;42(19):12237-48. Epub 2014 Oct 1.

Department of Medical Microbiology, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands

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October 2014

Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrum.

Ear Hear 2015 Mar-Apr;36(2):205-11

1Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen, The Netherlands; 2Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands; 3Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands; 4Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; 5Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, The Netherlands; and 6Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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May 2016

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.

Eur J Hum Genet 2015 Feb 30;23(2):202-9. Epub 2014 Apr 30.

Nijmegen Center for Mitochondrial Disorders (NCMD) at the Department of Pediatrics, Radboud University Medical Center (Radboudumc), Nijmegen, The Netherlands.

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February 2015

Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis.

Proc Natl Acad Sci U S A 2014 Apr 24;111(14):5343-8. Epub 2014 Mar 24.

Departments of Gastroenterology and Hepatology and Human Genetics and Center for Molecular and Biomolecular Informatics, Institute for Genetic and Metabolic Disease, Radboud university medical center, 6500 HB Nijmegen, The Netherlands.

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April 2014

Status quo of annotation of human disease variants.

BMC Bioinformatics 2013 Dec 4;14:352. Epub 2013 Dec 4.

CMBI, NCMLS, Radboud University Nijmegen Medical Centre, Nijmegen, PO Box 9101, Nijmegen, HB 6500, The Netherlands.

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December 2013

SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15).

PLoS One 2013 18;8(11):e79063. Epub 2013 Nov 18.

Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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July 2014

A Patient with Complex I Deficiency Caused by a Novel ACAD9 Mutation Not Responding to Riboflavin Treatment.

JIMD Rep 2014 31;12:37-45. Epub 2013 Aug 31.

Nijmegen Centre for Mitochondrial Disorders at the Department of Pediatrics, Radboud University Medical Centre, 6500 HB, Nijmegen, The Netherlands.

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January 2014

Familial hemiplegic migraine mutations affect Na,K-ATPase domain interactions.

Biochim Biophys Acta 2013 Dec 15;1832(12):2173-9. Epub 2013 Aug 15.

Department of Pharmacology and Toxicology 149, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands. Electronic address:

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December 2013

Structural model of a putrescine-cadaverine permease from Trypanosoma cruzi predicts residues vital for transport and ligand binding.

Biochem J 2013 Jun;452(3):423-32

Department of Biochemistry and Molecular Biology, Oregon Health and Science University, Portland, Oregon 97239, USA.

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June 2013

Phosphorylation target site specificity for AGC kinases DMPK E and Lats2.

J Cell Biochem 2012 Jun;113(6):2126-35

Department of Cell Biology, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

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June 2012

Membrane topology and intracellular processing of cyclin M2 (CNNM2).

J Biol Chem 2012 Apr 7;287(17):13644-55. Epub 2012 Mar 7.

Department of Physiology, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands.

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April 2012

Variation in genes of β-glucan recognition pathway and susceptibility to opportunistic infections in HIV-positive patients.

Immunol Invest 2011 ;40(7-8):735-50

Department of Internal Medicine, Nijmegen Center for Molecular Life Sciences, Radboud University Nijmegen Medical Center, Geert Grooteplein 8, Nijmegen, The Netherlands.

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February 2012

The structure-function relationship of the Aspergillus fumigatuscyp51A L98H conversion by site-directed mutagenesis: the mechanism of L98H azole resistance.

Fungal Genet Biol 2011 Nov 30;48(11):1062-70. Epub 2011 Aug 30.

Radboud University Nijmegen Medical Centre, Department of Medical Microbiology, 6500 HB Nijmegen, The Netherlands.

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November 2011

Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.

J Assoc Res Otolaryngol 2011 Dec 23;12(6):753-66. Epub 2011 Jul 23.

Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands.

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December 2011

Mass spectrometry analysis of hepcidin peptides in experimental mouse models.

PLoS One 2011 Mar 8;6(3):e16762. Epub 2011 Mar 8.

Laboratory of Genetic, Endocrine and Metabolic Diseases, Department of Laboratory Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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March 2011

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces.

BMC Bioinformatics 2010 Nov 8;11:548. Epub 2010 Nov 8.

CMBI, NCMLS, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, Netherlands.

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November 2010

The moonlighting function of pyruvate carboxylase resides in the non-catalytic end of the TIM barrel.

Biochim Biophys Acta 2010 Sep 30;1803(9):1038-42. Epub 2010 Mar 30.

Department of Molecular Cell Biology, Groningen Biomolecular Sciences and Biotechnology Institute (GBB), Kluyver Centre for Genomics of Industrial Fermentation, University of Groningen, NL-9750 AA Haren, The Netherlands.

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September 2010

The alpha-kinase family: an exceptional branch on the protein kinase tree.

Cell Mol Life Sci 2010 Mar 12;67(6):875-90. Epub 2009 Dec 12.

Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, The Netherlands.

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March 2010

Functional analysis of the Kv1.1 N255D mutation associated with autosomal dominant hypomagnesemia.

J Biol Chem 2010 Jan 10;285(1):171-8. Epub 2009 Nov 10.

Department of Physiology, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands.

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January 2010

Homology modelling and spectroscopy, a never-ending love story.

Eur Biophys J 2010 Mar 29;39(4):551-63. Epub 2009 Aug 29.

Centre for Molecular and Biomolecular Informatics, CMBI, NCMLS 260, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands.

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March 2010

Role of the C-terminal linear region of EGF-like growth factors in ErbB specificity.

Growth Factors 2009 Jun;27(3):163-72

Department of Cell Biology, Faculty of Science, Radboud University Nijmegen, Nijmegen, The Netherlands.

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June 2009

Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.

Hum Genet 2008 Oct 22;124(3):215-23. Epub 2008 Aug 22.

Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.

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October 2008

Role of the alpha-kinase domain in transient receptor potential melastatin 6 channel and regulation by intracellular ATP.

J Biol Chem 2008 Jul 19;283(29):19999-20007. Epub 2008 May 19.

Department of Physiology, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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July 2008

A novel (Leu183Pro-)mutation in the HFE-gene co-inherited with the Cys282Tyr mutation in two unrelated Dutch hemochromatosis patients.

Blood Cells Mol Dis 2008 May-Jun;40(3):334-8. Epub 2007 Nov 26.

Department of Clinical Chemistry, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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August 2008

Negative constraints underlie the ErbB specificity of epidermal growth factor-like ligands.

J Biol Chem 2006 Dec 10;281(52):40033-40. Epub 2006 Oct 10.

Department of Cell Biology and Centre for Molecular and Biomolecular Informatics, Radboud University Nijmegen, Faculty of Science, Toernooiveld 1, 6525 ED Nijmegen, The Netherlands.

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December 2006