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Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features.
Published in:
Pharmaceuticals (14248247), 2019, v. 12, n. 3, p. 132, doi. 10.3390/ph12030132
By:
- Vlasveld, L. Tom;
- Janssen, Roel;
- Bardou-Jacquet, Edouard;
- Venselaar, Hanka;
- Hamdi-Roze, Houda;
- Drakesmith, Hal;
- Swinkels, Dorine W.
Publication type:
Article
CAD mutations and uridine-responsive epileptic encephalopathy.
Published in:
2017
By:
- Koch, Johannes;
- Mayr, Johannes A.;
- Alhaddad, Bader;
- Rauscher, Christian;
- Bierau, Jörgen;
- Kovacs-Nagy, Reka;
- Coene, Karlien L. M.;
- Bader, Ingrid;
- Holzhacker, Monika;
- Prokisch, Holger;
- Venselaar, Hanka;
- Wevers, Ron A.;
- Distelmaier, Felix;
- Polster, Tilman;
- Leiz, Steffen;
- Betzler, Cornelia;
- Strom, Tim M.;
- Sperl, Wolfgang;
- Meitinger, Thomas;
- Wortmann, Saskia B.
Publication type:
journal article
Therapeutic NOTCH3 cysteine correction in CADASIL using exon skipping: in vitro proof of concept.
Published in:
2016
By:
- Rutten, Julie W.;
- Dauwerse, Hans G.;
- Peters, Dorien J. M.;
- Goldfarb, Andrew;
- Venselaar, Hanka;
- Haffner, Christof;
- van Ommen, Gert-Jan B.;
- Aartsma-Rus, Annemieke M.;
- Lesnik Oberstein, Saskia A. J.
Publication type:
journal article
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 12, p. 6419, doi. 10.3390/ijms22126419
By:
- Reurink, Janine;
- Dockery, Adrian;
- Oziębło, Dominika;
- Farrar, G. Jane;
- Ołdak, Monika;
- ten Brink, Jacoline B.;
- Bergen, Arthur A.;
- Rinne, Tuula;
- Yntema, Helger G.;
- Pennings, Ronald J. E.;
- van den Born, L. Ingeborgh;
- Aben, Marco;
- Oostrik, Jaap;
- Venselaar, Hanka;
- Plomp, Astrid S.;
- Khan, M. Imran;
- van Wijk, Erwin;
- Cremers, Frans P. M.;
- Roosing, Susanne;
- Kremer, Hannie
Publication type:
Article
Investigating the active site of human trimethyllysine hydroxylase.
Published in:
Biochemical Journal, 2019, v. 476, n. 7, p. 1109, doi. 10.1042/BCJ20180857
By:
- Wang, Yali;
- Reddy, Y. Vijayendar;
- Temimi, Abbas H. K. Al;
- Venselaar, Hanka;
- Nelissen, Frank H. T.;
- Lenstra, Danny C.;
- Mecinovic', Jasmin
Publication type:
Article
Modulation of spectral properties and pump activity of proteorhodopsins by retinal analogues.
Published in:
Biochemical Journal, 2015, v. 467, n. 2, p. 333, doi. 10.1042/BJ20141210
By:
- Ganapathy, Srividya;
- Bécheau, Odette;
- Venselaar, Hanka;
- Frölich, Siebren;
- van der Steen, Jeroen B.;
- Que Chen;
- Radwan, Sarah;
- Lugtenburg, Johan;
- Hellingwerf, Klaas J.;
- de Groot, Huub J. M.;
- de Grip, Willem J.
Publication type:
Article
Structural model of a putrescine-cadaverine permease from Trypanosoma cruzi predicts residues vital for transport and ligand binding.
Published in:
Biochemical Journal, 2013, v. 452, n. 3, p. 423, doi. 10.1042/BJ20130350
By:
- SOYSA, Radika;
- VENSELAAR, Hanka;
- POSTON, Jacqueline;
- ULLMAN, Buddy;
- HASNE, Marie-Pierre
Publication type:
Article
An Overview of the Putative Structural and Functional Properties of the GHBh1 Receptor through a Bioinformatics Approach.
Published in:
Life (2075-1729), 2023, v. 13, n. 4, p. 926, doi. 10.3390/life13040926
By:
- Wolf, Casper J. H.;
- Venselaar, Hanka;
- Spoelder, Marcia;
- Beurmanjer, Harmen;
- Schellekens, Arnt F. A.;
- Homberg, Judith R.
Publication type:
Article
A dsRNA-binding protein of a complex invertebrate DNA virus suppresses the Drosophila RNAi response.
Published in:
Nucleic Acids Research, 2014, v. 42, n. 19, p. 12237, doi. 10.1093/nar/gku910
By:
- Bronkhorst, Alfred W.;
- van Cleef, Koen W.R.;
- Venselaar, Hanka;
- van Rij, Ronald P.
Publication type:
Article
Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1813, doi. 10.1002/ajmg.a.38274
By:
- Khandelwal, Kriti D.;
- Ockeloen, Charlotte W.;
- Venselaar, Hanka;
- Boulanger, Cécile;
- Brichard, Bénédicte;
- Sokal, Etienne;
- Pfundt, Rolph;
- Rinne, Tuula;
- van Beusekom, Ellen;
- Bloemen, Marjon;
- Vriend, Gerrit;
- Revencu, Nicole;
- Carels, Carine E. L.;
- van Bokhoven, Hans;
- Zhou, Huiqing
Publication type:
Article
Dominant missense mutations in ABCC9 cause Cantú syndrome.
Published in:
Nature Genetics, 2012, v. 44, n. 7, p. 793, doi. 10.1038/ng.2324
By:
- Harakalova, Magdalena;
- van Harssel, Jeske J T;
- Terhal, Paulien A;
- van Lieshout, Stef;
- Duran, Karen;
- Renkens, Ivo;
- Amor, David J;
- Wilson, Louise C;
- Kirk, Edwin P;
- Turner, Claire L S;
- Shears, Debbie;
- Garcia-Minaur, Sixto;
- Lees, Melissa M;
- Ross, Alison;
- Venselaar, Hanka;
- Vriend, Gert;
- Takanari, Hiroki;
- Rook, Martin B;
- van der Heyden, Marcel A G;
- Asselbergs, Folkert W
Publication type:
Article
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.
Published in:
Nature Genetics, 2011, v. 43, n. 2, p. 121, doi. 10.1038/ng.744
By:
- van de Laar, Ingrid M. B. H.;
- Oldenburg, Rogier A.;
- Pals, Gerard;
- Roos-Hesselink, Jolien W.;
- de Graaf, Bianca M.;
- Verhagen, Judith M. A.;
- Hoedemaekers, Yvonne M.;
- Willemsen, Rob;
- Severijnen, Lies-Anne;
- Venselaar, Hanka;
- Vriend, Gert;
- Pattynama, Peter M.;
- Collée, Margriet;
- Majoor-Krakauer, Danielle;
- Poldermans, Don;
- Frohn-Mulder, Ingrid M. E.;
- Micha, Dimitra;
- Timmermans, Janneke;
- Hilhorst-Hofstee, Yvonne;
- Bierma-Zeinstra, Sita M.
Publication type:
Article
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.
Published in:
Nature Genetics, 2008, v. 40, n. 11, p. 1335, doi. 10.1038/ng.245
By:
- Ahmed, Zubair M;
- Masmoudi, Saber;
- Kalay, Ersan;
- Belyantseva, Inna A;
- Mosrati, Mohamed Ali;
- Collin, Rob W J;
- Riazuddin, Saima;
- Hmani-Aifa, Mounira;
- Venselaar, Hanka;
- Kawar, Mayya N;
- Tlili, Abdelaziz;
- van der Zwaag, Bert;
- Khan, Shahid Y;
- Ayadi, Leila;
- Riazuddin, S Amer;
- Morell, Robert J;
- Griffith, Andrew J;
- Charfedine, Ilhem;
- Çaylan, Refik;
- Oostrik, Jaap
Publication type:
Article
A Gate Hinge Controls the Epithelial Calcium Channel TRPV5.
Published in:
Scientific Reports, 2017, p. 45489, doi. 10.1038/srep45489
By:
- van der Wijst, Jenny;
- Leunissen, Elizabeth H.;
- Blanchard, Maxime G.;
- Venselaar, Hanka;
- Verkaart, Sjoerd;
- Paulsen, Candice E.;
- Bindels, René J.;
- Hoenderop, Joost G.
Publication type:
Article
Identification of a novel inactivating mutation in Isocitrate Dehydrogenase 1 (IDH1-R314C) in a high grade astrocytoma.
Published in:
Scientific Reports, 2016, p. 30486, doi. 10.1038/srep30486
By:
- van Lith, Sanne A. M.;
- Navis, Anna C.;
- Lenting, Krissie;
- Verrijp, Kiek;
- Schepens, Jan T. G.;
- Hendriks, Wiljan J. A. J.;
- Schubert, Nil A.;
- Venselaar, Hanka;
- Wevers, Ron A.;
- van Rooij, Arno;
- Wesseling, Pieter;
- Molenaar, Remco J.;
- van Noorden, Cornelis J. F.;
- Pusch, Stefan;
- Tops, Bastiaan;
- Leenders, William P. J.
Publication type:
Article
SNP Linkage Analysis and Whole Exome Sequencing Identify a Novel <i>POU4F3</i> Mutation in Autosomal Dominant Late-Onset Nonsyndromic Hearing Loss (DFNA15).
Published in:
PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0079063
By:
- Kim, Hee-Jin;
- Won, Hong-Hee;
- Park, Kyoung-Jin;
- Hong, Sung Hwa;
- Ki, Chang-Seok;
- Cho, Sang Sun;
- Venselaar, Hanka;
- Vriend, Gert;
- Kim, Jong-Won
Publication type:
Article
Mass Spectrometry Analysis of Hepcidin Peptides in Experimental Mouse Models.
Published in:
PLoS ONE, 2011, v. 6, n. 3, p. 1, doi. 10.1371/journal.pone.0016762
By:
- Tjalsma, Harold;
- Laarakkers, Coby M. M.;
- Swelm, Rachel P. L. van;
- Theurl, Milan;
- Theurl, Igor;
- Kemna, Erwin H.;
- Burgt, Yuri E. M. van der;
- Venselaar, Hanka;
- Dutilh, Bas E.;
- Russel, Frans G. M.;
- Weiss, Günter;
- Masereeuw, Rosalinde;
- Fleming, Robert E.;
- Swinkels, Dorine W.
Publication type:
Article
A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain.
Published in:
Journal of Molecular Medicine, 2012, v. 90, n. 11, p. 1321, doi. 10.1007/s00109-012-0911-2
By:
- Cho, Hyun-Ju;
- Park, Hong-Joon;
- Trexler, Maria;
- Venselaar, Hanka;
- Lee, Kyu-Yup;
- Robertson, Nahid;
- Baek, Jeong-In;
- Kang, Beom;
- Morton, Cynthia;
- Vriend, Gert;
- Patthy, László;
- Kim, Un-Kyung
Publication type:
Article
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.
Published in:
Human Genetics, 2018, v. 137, n. 5, p. 389, doi. 10.1007/s00439-018-1880-5
By:
- Wesdorp, Mieke;
- de Koning Gans, Pia A. M.;
- Schraders, Margit;
- Oostrik, Jaap;
- Huynen, Martijn A.;
- Venselaar, Hanka;
- Beynon, Andy J.;
- van Gaalen, Judith;
- Piai, Vitória;
- Voermans, Nicol;
- van Rossum, Michelle M.;
- Hartel, Bas P.;
- Lelieveld, Stefan H.;
- Wiel, Laurens;
- Verbist, Berit;
- Rotteveel, Liselotte J.;
- van Dooren, Marieke F.;
- Lichtner, Peter;
- Kunst, Henricus P. M.;
- Feenstra, Ilse
Publication type:
Article
Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.
Published in:
Human Genetics, 2008, v. 124, n. 3, p. 215, doi. 10.1007/s00439-008-0543-3
By:
- Ahmed, Zubair M.;
- Riazuddin, Saima;
- Aye, Sandar;
- Ali, Rana A.;
- Venselaar, Hanka;
- Anwar, Saima;
- Belyantseva, Polina P.;
- Qasim, Muhammad;
- Riazuddin, Sheikh;
- Friedman, Thomas B.
Publication type:
Article
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant.
Published in:
NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00306-z
By:
- Reurink, Janine;
- de Vrieze, Erik;
- Li, Catherina H. Z.;
- van Berkel, Emma;
- Broekman, Sanne;
- Aben, Marco;
- Peters, Theo;
- Oostrik, Jaap;
- Neveling, Kornelia;
- Venselaar, Hanka;
- Ramos, Mariana Guimarães;
- Gilissen, Christian;
- Astuti, Galuh D. N.;
- Galbany, Jordi Corominas;
- van Lith-Verhoeven, Janneke J. C.;
- Ockeloen, Charlotte W.;
- Haer-Wigman, Lonneke;
- Hoyng, Carel B.;
- Cremers, Frans P. M.;
- Kremer, Hannie
Publication type:
Article
Highly conserved nucleotide phosphatase essential for membrane lipid homeostasis in Streptococcus pneumoniae.
Published in:
Molecular Microbiology, 2016, v. 101, n. 1, p. 12, doi. 10.1111/mmi.13312
By:
- Kuipers, Kirsten;
- Gallay, Clement;
- Martínek, Václav;
- Rohde, Manfred;
- Martínková, Markéta;
- van der Beek, Samantha L.;
- Jong, Wouter S. P.;
- Venselaar, Hanka;
- Zomer, Aldert;
- Bootsma, Hester;
- Veening, Jan‐Willem;
- de Jonge, Marien I.
Publication type:
Article
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Published in:
2019
By:
- Snijders Blok, Lot;
- Rousseau, Justine;
- Twist, Joanna;
- Ehresmann, Sophie;
- Takaku, Motoki;
- Venselaar, Hanka;
- Rodan, Lance H.;
- Nowak, Catherine B.;
- Douglas, Jessica;
- Swoboda, Kathryn J.;
- Steeves, Marcie A.;
- Sahai, Inderneel;
- Stumpel, Connie T. R. M.;
- Stegmann, Alexander P. A.;
- Wheeler, Patricia;
- Willing, Marcia;
- Fiala, Elise;
- Kochhar, Aaina;
- Gibson, William T.;
- Cohen, Ana S. A.
Publication type:
Correction Notice
Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-08800-2
By:
- Blok, Lot Snijders;
- Rousseau, Justine;
- Twist, Joanna;
- Ehresmann, Sophie;
- Takaku, Motoki;
- Venselaar, Hanka;
- Rodan, Lance H.;
- Nowak, Catherine B.;
- Douglas, Jessica;
- Swoboda, Kathryn J.;
- Steeves, Marcie A.;
- Sahai, Inderneel;
- Stumpel, Connie T. R. M.;
- Stegmann, Alexander P. A.;
- Wheeler, Patricia;
- Willing, Marcia;
- Fiala, Elise;
- Kochhar, Aaina;
- Gibson, William T.;
- Cohen, Ana S. A.
Publication type:
Article
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Published in:
Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-06014-6
By:
- Snijders Blok, Lot;
- Rousseau, Justine;
- Twist, Joanna;
- Ehresmann, Sophie;
- Takaku, Motoki;
- Venselaar, Hanka;
- Rodan, Lance H.;
- Nowak, Catherine B.;
- Douglas, Jessica;
- Swoboda, Kathryn J.;
- Steeves, Marcie A.;
- Sahai, Inderneel;
- Stumpel, Connie T. R. M.;
- Stegmann, Alexander P. A.;
- Wheeler, Patricia;
- Willing, Marcia;
- Fiala, Elise;
- Kochhar, Aaina;
- Gibson, William T.;
- Cohen, Ana S. A.
Publication type:
Article
A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 5, p. 639, doi. 10.1038/ejhg.2014.154
By:
- Oh, Se-Kyung;
- Baek, Jeong-In;
- Weigand, Karl M;
- Venselaar, Hanka;
- Swarts, Herman G P;
- Park, Seong-Hyun;
- Hashim Raza, Muhammad;
- Jung, Da Jung;
- Choi, Soo-Young;
- Lee, Sang-Heun;
- Friedrich, Thomas;
- Vriend, Gert;
- Koenderink, Jan B;
- Kim, Un-Kyung;
- Lee, Kyu-Yup
Publication type:
Article
SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 2, p. 202, doi. 10.1038/ejhg.2014.80
By:
- Renkema, G Herma;
- Wortmann, Saskia B;
- Smeets, Roel J;
- Venselaar, Hanka;
- Antoine, Marion;
- Visser, Gepke;
- Ben-Omran, Tawfeg;
- van den Heuvel, Lambert P;
- Timmers, Henri J L M;
- Smeitink, Jan A;
- Rodenburg, Richard J T
Publication type:
Article
Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 3, p. 275, doi. 10.1038/ejhg.2010.208
By:
- Smits, Paulien;
- Antonicka, Hana;
- van Hasselt, Peter M.;
- Weraarpachai, Woranontee;
- Haller, Wolfram;
- Schreurs, Marieke;
- Venselaar, Hanka;
- Rodenburg, Richard J.;
- Smeitink, Jan A.;
- van den Heuvel, Lambert P.
Publication type:
Article
Status quo of annotation of human disease variants.
Published in:
BMC Bioinformatics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2105-14-352
By:
- Venselaar, Hanka;
- Camilli, Franscesca;
- Gholizadeh, Shima;
- Snelleman, Marlou;
- Brunner, Han G.;
- Vriend, Gert
Publication type:
Article
Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces.
Published in:
BMC Bioinformatics, 2010, v. 11, p. 548, doi. 10.1186/1471-2105-11-548
By:
- Venselaar, Hanka;
- te Beek, Tim A. H.;
- Kuipers, Remko K. P.;
- Hekkelman, Maarten L.;
- Vriend, Gert
Publication type:
Article
Bifunctional protein PCBD2 operates as a co‐factor for hepatocyte nuclear factor 1β and modulates gene transcription.
Published in:
FASEB Journal, 2021, v. 35, n. 4, p. 1, doi. 10.1096/fj.202002022R
By:
- Tholen, Lotte E.;
- Bos, Caro;
- Jansen, Pascal W. T. C.;
- Venselaar, Hanka;
- Vermeulen, Michiel;
- Hoenderop, Joost G. J.;
- de Baaij, Jeroen H. F.
Publication type:
Article
Phosphorylation target site specificity for AGC kinases DMPK E and lats2.
Published in:
Journal of Cellular Biochemistry, 2012, v. 113, n. 6, p. 2126, doi. 10.1002/jcb.24086
By:
- Gerrits, Lieke;
- Venselaar, Hanka;
- Wieringa, Bé;
- Wansink, Derick G.;
- Hendriks, Wiljan J.A.J.
Publication type:
Article
Novel GANAB variants associated with polycystic liver disease.
Published in:
2020
By:
- van de Laarschot, Liyanne F. M.;
- te Morsche, René H. M.;
- Hoischen, Alexander;
- Venselaar, Hanka;
- Roelofs, Hennie M.;
- Cnossen, Wybrich R.;
- Banales, Jesus M.;
- Roepman, Ronald;
- Drenth, Joost P. H.
Publication type:
journal article
Novel defect in phosphatidylinositol 4‐kinase type 2‐alpha (PI4K2A) at the membrane‐enzyme interface is associated with metabolic cutis laxa.
Published in:
Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1382, doi. 10.1002/jimd.12255
By:
- Mohamed, Miski;
- Gardeitchik, Thatjana;
- Balasubramaniam, Shanti;
- Guerrero‐Castillo, Sergio;
- Dalloyaux, Daisy;
- Kraaij, Sanne;
- Venselaar, Hanka;
- Hoischen, Alexander;
- Urban, Zsolt;
- Brandt, Ulrich;
- Al‐Shawi, Raya;
- Simons, J. Paul;
- Frison, Michele;
- Ngu, Lock‐Hock;
- Callewaert, Bert;
- Spelbrink, Hans;
- Kallemeijn, Wouter W.;
- Aerts, Johannes M. F. G.;
- Waugh, Mark G.;
- Morava, Eva
Publication type:
Article
Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.
Published in:
2011
By:
- Weegerink, Nicole;
- Schraders, Margit;
- Oostrik, Jaap;
- Huygen, Patrick;
- Strom, Tim;
- Granneman, Susanne;
- Pennings, Ronald;
- Venselaar, Hanka;
- Hoefsloot, Lies;
- Elting, Mariet;
- Cremers, Cor;
- Admiraal, Ronald;
- Kremer, Hannie;
- Kunst, Henricus;
- Weegerink, Nicole J D;
- Huygen, Patrick L M;
- Strom, Tim M;
- Pennings, Ronald J E;
- Hoefsloot, Lies H;
- Cremers, Cor W R J
Publication type:
journal article
Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene.
Published in:
Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 3, p. 393, doi. 10.1002/mgg3.387
By:
- van der Schoot, Vyne;
- de Munnik, Sonja;
- Venselaar, Hanka;
- Elting, Mariet;
- Mancini, Grazia M. S.;
- Ravenswaaij-Arts, Conny M. A.;
- Anderlid, Britt-Marie;
- Brunner, Han G.;
- Stevens, Servi J. C.
Publication type:
Article
A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 23, p. 6565, doi. 10.1093/hmg/ddv345
By:
- Porter, Louise F.;
- Galli, Giorgio G.;
- Williamson, Sally;
- Selley, Julian;
- Knight, David;
- Elcioglu, Nursel;
- Aydin, Ali;
- Elcioglu, Mustafa;
- Venselaar, Hanka;
- Lund, Anders H.;
- Bonshek, Richard;
- Black, Graeme C.;
- Manson, Forbes D.
Publication type:
Article
Point Mutation Approach to Reduce Antigenicity of Interferon Beta.
Published in:
International Journal of Peptide Research & Therapeutics, 2020, v. 26, n. 3, p. 1353, doi. 10.1007/s10989-019-09938-9
By:
- Haji Abdolvahab, Mohadeseh;
- Venselaar, Hanka;
- Fazeli, Ahmad;
- Arab, S. Shahriar;
- Behmanesh, Mehrdad
Publication type:
Article
The alpha-kinase family: an exceptional branch on the protein kinase tree.
Published in:
Cellular & Molecular Life Sciences, 2010, v. 67, n. 6, p. 875, doi. 10.1007/s00018-009-0215-z
By:
- Middelbeek, Jeroen;
- Clark, Kristopher;
- Venselaar, Hanka;
- Huynen, Martijn A.;
- Van Leeuwen, Frank N.
Publication type:
Article
NewProt - a protein engineering portal.
Published in:
PEDS: Protein Engineering, Design & Selection, 2017, v. 30, n. 6, p. 441, doi. 10.1093/protein/gzx024
By:
- Schwarte, Andreas;
- Genz, Maika;
- Skalden, Lilly;
- Nobili, Alberto;
- Vickers, Clare;
- Melse, Okke;
- Kuipers, Remko;
- Joosten, Henk-Jan;
- Stourac, Jan;
- Bendl, Jaroslav;
- Black, Jon;
- Haase, Peter;
- Baakman, Coos;
- Damborsky, Jiri;
- Bornscheuer, Uwe;
- Vriend, Gert;
- Venselaar, Hanka
Publication type:
Article
Identification of a novel MET mutation in high-grade glioma resulting in an auto-active intracellular protein.
Published in:
Acta Neuropathologica, 2015, v. 130, n. 1, p. 131, doi. 10.1007/s00401-015-1420-5
By:
- Navis, Anna;
- Lith, Sanne;
- Duijnhoven, Sander;
- Pooter, Maaike;
- Yetkin-Arik, Bahar;
- Wesseling, Pieter;
- Hendriks, Wiljan;
- Venselaar, Hanka;
- Timmer, Marco;
- Cleef, Patricia;
- Bergen en Henegouwen, Paul;
- Best, Myron;
- Wurdinger, Thomas;
- Tops, Bastiaan;
- Leenders, William
Publication type:
Article
Front Cover, Volume 40, Issue 10.
Published in:
Human Mutation, 2019, v. 40, n. 10, p. i, doi. 10.1002/humu.23923
By:
- Cox, Timothy C.;
- Lidral, Andrew C.;
- McCoy, Jason C.;
- Liu, Huan;
- Cox, Liza L.;
- Zhu, Ying;
- Anderson, Ryan D.;
- Moreno Uribe, Lina M.;
- Anand, Deepti;
- Deng, Mei;
- Richter, Chika T.;
- Nidey, Nichole L.;
- Standley, Jennifer M.;
- Blue, Elizabeth E.;
- Chong, Jessica X.;
- Smith, Joshua D.;
- Kirk, Edwin P.;
- Venselaar, Hanka;
- Krahn, Katy N.;
- Bokhoven, Hans
Publication type:
Article
Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans.
Published in:
Human Mutation, 2019, v. 40, n. 10, p. 1813, doi. 10.1002/humu.23793
By:
- Cox, Timothy C.;
- Lidral, Andrew C.;
- McCoy, Jason C.;
- Liu, Huan;
- Cox, Liza L.;
- Zhu, Ying;
- Anderson, Ryan D.;
- Moreno Uribe, Lina M.;
- Anand, Deepti;
- Deng, Mei;
- Richter, Chika T.;
- Nidey, Nichole L.;
- Standley, Jennifer M.;
- Blue, Elizabeth E.;
- Chong, Jessica X.;
- Smith, Joshua D.;
- Kirk, Edwin P.;
- Venselaar, Hanka;
- Krahn, Katy N.;
- Bokhoven, Hans
Publication type:
Article
Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy.
Published in:
Human Mutation, 2017, v. 38, n. 12, p. 1786, doi. 10.1002/humu.23340
By:
- Wortmann, Saskia B.;
- Timal, Sharita;
- Venselaar, Hanka;
- Wintjes, Liesbeth T.;
- Kopajtich, Robert;
- Feichtinger, René G.;
- Onnekink, Carla;
- Mühlmeister, Mareike;
- Brandt, Ulrich;
- Smeitink, Jan A.;
- Veltman, Joris A.;
- Sperl, Wolfgang;
- Lefeber, Dirk;
- Pruijn, Ger;
- Stojanovic, Vesna;
- Freisinger, Peter;
- v Spronsen, Francjan;
- Derks, Terry GJ;
- Veenstra-Knol, Hermine E.;
- Mayr, Johannes A
Publication type:
Article
Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnostics.
Published in:
Human Mutation, 2017, v. 38, n. 11, p. 1454, doi. 10.1002/humu.23313
By:
- Wiel, Laurens;
- Venselaar, Hanka;
- Veltman, Joris A.;
- Vriend, Gert;
- Gilissen, Christian
Publication type:
Article
Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive.
Published in:
Human Mutation, 2017, v. 38, n. 6, p. 692, doi. 10.1002/humu.23210
By:
- Baertling, Fabian;
- Al‐Murshedi, Fathiya;
- Sánchez‐Caballero, Laura;
- Al‐Senaidi, Khalfan;
- Joshi, Niranjan P;
- Venselaar, Hanka;
- den Brand, Mariël AM;
- Nijtmans, Leo GJ;
- Rodenburg, Richard JT
Publication type:
Article
SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.
Published in:
Human Mutation, 2015, v. 36, n. 12, p. 1145, doi. 10.1002/humu.22854
By:
- Micha, Dimitra;
- Guo, Dong‐chuan;
- Hilhorst‐Hofstee, Yvonne;
- Kooten, Fop;
- Atmaja, Dian;
- Overwater, Eline;
- Cayami, Ferdy K.;
- Regalado, Ellen S.;
- Uffelen, René;
- Venselaar, Hanka;
- Faradz, Sultana M.H.;
- Vriend, Gerrit;
- Weiss, Marjan M.;
- Sistermans, Erik A.;
- Maugeri, Alessandra;
- Milewicz, Dianna M.;
- Pals, Gerard;
- Dijk, Fleur S.
Publication type:
Article
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.
Published in:
2010
By:
- Nikopoulos, Konstantinos;
- Venselaar, Hanka;
- Collin, Rob W.J.;
- Riveiro-Alvarez, Rosa;
- Boonstra, F. Nienke;
- Hooymans, Johanna M.M.;
- Mukhopadhyay, Arijit;
- Shears, Deborah;
- van Bers, Marleen;
- de Wijs, Ilse J.;
- van Essen, Anthonie J.;
- Sijmons, Rolf H.;
- Tilanus, Mauk A.D.;
- van Nouhuys, C. Erik;
- Ayuso, Carmen;
- Hoefsloot, Lies H.;
- Cremers, Frans P.M.
Publication type:
Other
Functional characterization of TBR1 variants in neurodevelopmental disorder.
Published in:
Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-32053-6
By:
- den Hoed, Joery;
- Sollis, Elliot;
- Venselaar, Hanka;
- Estruch, Sara B.;
- Deriziotis, Pelagia;
- Fisher, Simon E.
Publication type:
Article
Gene polymorphisms in pattern recognition receptors and susceptibility to idiopathic recurrent vulvovaginal candidiasis.
Published in:
Frontiers in Microbiology, 2014, v. 5, p. 1, doi. 10.3389/fmicb.2014.00483
By:
- Rosentul, Diana C.;
- Delsing, Corine E.;
- Jaeger, Martin;
- Plantinga, Theo S.;
- Oosting, Marije;
- Venselaar, Hanka;
- Joosten, Leo A. B.;
- Dupont, Bertrand;
- Kullberg, Bart-Jan;
- Netea, Mihai G.;
- Costantini, Irene;
- van der Meer, Jos W. M.;
- Sobel, Jack D.
Publication type:
Article

Found: 54