Works by Nijman, Isaac J.

Results: 43

Afadin loss induces breast cancer metastasis through destabilisation of E‐cadherin to F‐actin linkage.

Published in:

Journal of Pathology, 2025, v. 266, n. 1, p. 26, doi. 10.1002/path.6394

By:

Rätze, Max AK;
Enserink, Lotte NFL;
Ishiyama, Noboru;
van Kempen, Sven;
Veltman, Christina HJ;
Nijman, Isaac J;
Haakma, Wisse E;
Caldas, Carlos;
Bernards, René;
van Diest, Paul J;
Christgen, Matthias;
Koorman, Thijs;
Derksen, Patrick WB

Publication type:

Article

Modifier genes in SCN1A‐related epilepsy syndromes.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 4, p. 1, doi. 10.1002/mgg3.1103

By:

de Lange, Iris M.;
Mulder, Flip;
Slot, Ruben;
Sonsma, Anja C. M.;
Kempen, Marjan J. A.;
Nijman, Isaac J.;
Ernst, Robert F.;
Knoers, Nine V. A. M.;
Brilstra, Eva H.;
Koeleman, Bobby P. C.

Publication type:

Article

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

Published in:

Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 5, p. 568, doi. 10.1002/mgg3.235

By:

Kovel, Carolien G.F.;
Brilstra, Eva H.;
Kempen, Marjan J.A.;
Slot, Ruben;
Nijman, Isaac J.;
Afawi, Zaid;
De Jonghe, Peter;
Djémié, Tania;
Guerrini, Renzo;
Hardies, Katia;
Helbig, Ingo;
Hendrickx, Rik;
Kanaan, Moine;
Kramer, Uri;
Lehesjoki, Anna‐Elina E.;
Lemke, Johannes R.;
Marini, Carla;
Mei, Davide;
Møller, Rikke S.;
Pendziwiat, Manuela

Publication type:

Article

Accurate SNP and mutation detection by targeted custom microarray-based genomic enrichment of short-fragment sequencing libraries.

Published in:

Nucleic Acids Research, 2010, v. 38, n. 10, p. e116, doi. 10.1093/nar/gkq072

By:

Mokry, Michal;
Feitsma, Harma;
Nijman, Isaac J.;
de Bruijn, Ewart;
van der Zaag, Pieter J.;
Guryev, Victor;
Cuppen, Edwin

Publication type:

Article

Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer.

Published in:

Genome Biology, 2011, v. 12, n. 10, p. 1, doi. 10.1186/gb-2011-12-10-r103

By:

Kloosterman, Wigard P.;
Hoogstraat, Marlous;
Paling, Oscar;
Tavakoli-Yarak, Masoumeh;
Renkens, Ivo;
Vermaat, Joost S.;
van Roosmalen, Markus J.;
Lieshout, Stef van;
Nijman, Isaac J.;
Roessingh, Wijnand;
Slot, Ruben van 't;
de Belt, José van;
Guryev, Victor;
Koudijs, Marco;
Voest2, Emile;
Cuppen, Edwin

Publication type:

Article

Pseudobudding: ruptured glands do not represent true tumor buds.

Published in:

Journal of Pathology, 2023, v. 261, n. 1, p. 19, doi. 10.1002/path.6146

By:

Haddad, Tariq Sami;
van den Dobbelsteen, Luuk;
Öztürk, Sonay K;
Geene, Robin;
Nijman, Isaäc J;
Verrijp, Kiek;
Jamieson, Nigel B;
Wood, Colin;
van Vliet, Shannon;
Reuvers, Luuk;
Achouiti, Soumia;
Rutgers, Natasja;
Brouwer, Nelleke;
Simmer, Femke;
Zlobec, Inti;
Lugli, Alessandro;
Nagtegaal, Iris D

Publication type:

Article

Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.

Published in:

Epilepsia (Series 4), 2018, v. 59, n. 3, p. 690, doi. 10.1111/epi.14021

By:

de Lange, Iris M.;
Koudijs, Marco J.;
van ’t Slot, Ruben;
Gunning, Boudewijn;
Sonsma, Anja C. M.;
van Gemert, Lisette J. J. M.;
Mulder, Flip;
Carbo, Ellen C.;
van Kempen, Marjan J. A.;
Verbeek, Nienke E.;
Nijman, Isaac J.;
Ernst, Robert F.;
Savelberg, Sanne M. C.;
Knoers, Nine V. A. M.;
Brilstra, Eva H.;
Koeleman, Bobby P. C.

Publication type:

Article

SINE Retrotransposition During the Evolution of the Pecoran Ruminants.

Published in:

Journal of Molecular Evolution, 2002, v. 54, n. 1, p. 9, doi. 10.1007/s00239-001-0012-2

By:

Nijman, Isaäc J.;
van Tessel, Patrick;
Lenstra, Johannes A.

Publication type:

Article

Mutation and Recombination in Cattle Satellite DNA: A Feedback Model for the Evolution of Satellite DNA Repeats.

Published in:

Journal of Molecular Evolution, 2001, v. 52, n. 4, p. 361, doi. 10.1007/s002390010166

By:

Nijman, Isaäc J.;
Lenstra, Johannes A.

Publication type:

Article

A nonsensemutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses.

Published in:

BMC Genomics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12864-015-1936-z

By:

Ducro, Bart J.;
Schurink, Anouk;
Bastiaansen, John W. M.;
Boegheim, Iris J. M.;
van Steenbeek, Frank G.;
Vos-Loohuis, Manon;
Nijman, Isaac J.;
Monroe, Glen R.;
Hellinga, Ids;
Dibbits, Bert W.;
Back, Willem;
Leegwater, Peter A. J.

Publication type:

Article

A systematic genome-wide analysis of zebrafish protein-coding gene function.

Published in:

Nature, 2013, v. 496, n. 7446, p. 494, doi. 10.1038/nature11992

By:

Kettleborough, Ross N. W.;
Busch-Nentwich, Elisabeth M.;
Harvey, Steven A.;
Dooley, Christopher M.;
de Bruijn, Ewart;
van Eeden, Freek;
Sealy, Ian;
White, Richard J.;
Herd, Colin;
Nijman, Isaac J.;
Fényes, Fruzsina;
Mehroke, Selina;
Scahill, Catherine;
Gibbons, Richard;
Wali, Neha;
Carruthers, Samantha;
Hall, Amanda;
Yen, Jennifer;
Cuppen, Edwin;
Stemple, Derek L.

Publication type:

Article

Geographical contrasts of Y‐chromosomal haplogroups from wild and domestic goats reveal ancient migrations and recent introgressions.

Published in:

Molecular Ecology, 2022, v. 31, n. 16, p. 4364, doi. 10.1111/mec.16579

By:

Nijman, Isaäc J.;
Rosen, Benjamin D.;
Bardou, Philippe;
Faraut, Thomas;
Cumer, Tristan;
Daly, Kevin G.;
Zheng, Zhuqing;
Cai, Yudong;
Asadollahpour, Hojjat;
Kul, Bengi Çınar;
Zhang, Wei‐Yi;
E., Guangxin;
Ayin, A.;
Baird, Hayley;
Bakhtin, Meirat;
Bâlteanu, Valentin A.;
Barfield, Diana;
Berger, Beate;
Blichfeldt, Thor;
Boink, Geert

Publication type:

Article

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.

Published in:

Human Mutation, 2019, v. 40, n. 12, p. 2230, doi. 10.1002/humu.23896

By:

Fokkema, Ivo F. A. C.;
Velde, Kasper J.;
Slofstra, Mariska K.;
Ruivenkamp, Claudia A. L.;
Vogel, Maartje J.;
Pfundt, Rolph;
Blok, Marinus J.;
Lekanne Deprez, Ronald H.;
Waisfisz, Quinten;
Abbott, Kristin M.;
Sinke, Richard J.;
Rahman, Rubayte;
Nijman, Isaäc J.;
Koning, Bart;
Thijs, Gert;
Wieskamp, Nienke;
Moritz, Ruben J. G.;
Charbon, Bart;
Saris, Jasper J.;
den Dunnen, Johan T.

Publication type:

Article

Characterization of 37 Breed-Specific Single-Nucleotide Polymorphisms in Sheep.

Published in:

Journal of Heredity, 2006, v. 97, n. 5, p. 531, doi. 10.1093/jhered/esl020

By:

Pariset, Lorraine;
Cappuccio, Irene;
Ajmone-Marsan, Paolo;
Bruford, Michael;
Dunner, Susana;
Cortes, Oscar;
Erhardt, Georg;
Prinzenberg, Eva-Maria;
Gutscher, Katja;
Joost, Stephane;
Pinto-Juma, Gabriela;
Nijman, Isaac J.;
Lenstra, Johannes A.;
Perez, Trinidad;
Valentini, Alessio

Publication type:

Article

Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples.

Published in:

Nature Methods, 2010, v. 7, n. 11, p. 913, doi. 10.1038/nmeth.1516

By:

Nijman, Isaäc J.;
Mokry, Michal;
van Boxtel, Ruben;
Toonen, Pim;
de Bruijn, Ewart;
Cuppen, Edwin

Publication type:

Article

Genome-wide survey indicates involvement of loci on canine chromosomes 7 and 31 in patellar luxation in flat-coated retrievers.

Published in:

BMC Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2156-15-64

By:

Lavrijsen, Ineke C. M.;
Leegwater, Peter A. J.;
Wangdee, Chalika;
van Steenbeek, Frank G.;
Schwencke, Monique;
Breur, Gert J.;
Meutstege, Freek J.;
Nijman, Isaac J.;
Cuppen, Edwin;
Heuven, Henri C. M.;
Hazewinkel, Herman A. W.

Publication type:

Article

Identification of genetic modifiers of behavioral phenotypes in serotonin transporter knockout rats.

Published in:

BMC Genetics, 2010, v. 11, p. 37, doi. 10.1186/1471-2156-11-37

By:

Homberg, Judith;
Nijman, Isaäc J.;
Kuijpers, Sylvia;
Cuppen, Edwin

Publication type:

Article

The role of rare compound heterozygous events in autism spectrum disorder.

Published in:

Translational Psychiatry, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41398-020-00866-7

By:

Lin, Bochao Danae;
Colas, Fabrice;
Nijman, Isaac J.;
Medic, Jelena;
Brands, William;
Parr, Jeremy R.;
van Eijk, Kristel R.;
Klauck, Sabine M.;
Chiocchetti, Andreas G.;
Freitag, Christine M.;
Maestrini, Elena;
Bacchelli, Elena;
Coon, Hilary;
Vicente, Astrid;
Oliveira, Guiomar;
Pagnamenta, Alistair T.;
Gallagher, Louise;
Ennis, Sean;
Anney, Richard;
Bourgeron, Thomas

Publication type:

Article

Tracing the History of Goat Pastoralism: New Clues from Mitochondrial and Y Chromosome DNA in North Africa.

Published in:

Molecular Biology & Evolution, 2009, v. 26, n. 12, p. 2765, doi. 10.1093/molbev/msp200

By:

Pereira, Filipe;
Queirós, Sara;
Gusmão, Leonor;
Nijman, Isäac J.;
Cuppen, Edwin;
Lenstra, Johannes A.;
Consortium, Econogene;
Davis, Simon J.M.;
Nejmeddine, Fouad;
Amorim, António

Publication type:

Article

Maternal and Paternal Lineages in Cross-Breeding Bovine Species. Has Wisent a Hybrid Origin?

Published in:

Molecular Biology & Evolution, 2004, v. 21, n. 7, p. 1165, doi. 10.1093/molbev/msh064

By:

Verkaar, Edward L. C.;
Nijman, Isaäc J.;
Beeke, Maurice;
Hanekamp, Eline;
Lenstra, Johannes A.

Publication type:

Article

Sambamba: fast processing of NGS alignment formats.

Published in:

Bioinformatics, 2015, v. 31, n. 12, p. 2032, doi. 10.1093/bioinformatics/btv098

By:

Tarasov, Artem;
Vilella, Albert J.;
Cuppen, Edwin;
Nijman, Isaac J.;
Prins, Pjotr

Publication type:

Article

Phylogeny of Y chromosomes from bovine species.

Published in:

Cladistics, 2008, v. 24, n. 5, p. 723, doi. 10.1111/j.1096-0031.2008.00201.x

By:

Nijman, Isaäc J.;
van Boxtel, Dick C. J.;
van Cann, Lisette M.;
Marnoch, Yindee;
Cuppen, Edwin;
Lenstra, Johannes A.

Publication type:

Article

Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation.

Published in:

Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-34953-z

By:

Hagl, Beate;
Spielberger, Benedikt D.;
Thoene, Silvia;
Bonnal, Sophie;
Mertes, Christian;
Winter, Christof;
Nijman, Isaac J.;
Verduin, Shira;
Eberherr, Andreas C.;
Puel, Anne;
Schindler, Detlev;
Ruland, Jürgen;
Meitinger, Thomas;
Gagneur, Julien;
Orange, Jordan S.;
van Gijn, Marielle E.;
Renner, Ellen D.

Publication type:

Article

Investigation of Genetic Modifiers of Copper Toxicosis in Labrador Retrievers.

Published in:

Life (2075-1729), 2020, v. 10, n. 11, p. 266, doi. 10.3390/life10110266

By:

Wu, Xiaoyan;
den Boer, Elise R.;
Vos-Loohuis, Manon;
Steenbeek, Frank G. van;
Monroe, Glen R.;
Nijman, Isaäc J.;
Leegwater, Peter. A. J.;
Fieten, Hille

Publication type:

Article

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1270, doi. 10.1038/ejhg.2015.44

By:

Vrijenhoek, Terry;
Kraaijeveld, Ken;
Elferink, Martin;
de Ligt, Joep;
Kranendonk, Elcke;
Santen, Gijs;
Nijman, Isaac J;
Butler, Derek;
Claes, Godelieve;
Costessi, Adalberto;
Dorlijn, Wim;
van Eyndhoven, Winfried;
Halley, Dicky JJ;
van den Hout, Mirjam CGN;
van Hove, Steven;
Johansson, Lennart F;
Jongbloed, Jan DH;
Kamps, Rick;
Kockx, Christel EM;
de Koning, Bart

Publication type:

Article

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.

Published in:

European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1142, doi. 10.1038/ejhg.2014.279

By:

Vrijenhoek, Terry;
Kraaijeveld, Ken;
Elferink, Martin;
de Ligt, Joep;
Kranendonk, Elcke;
Santen, Gijs;
Nijman, Isaac J;
Butler, Derek;
Claes, Godelieve;
Costessi, Adalberto;
Dorlijn, Wim;
van Eyndhoven, Winfried;
Halley, Dicky J J;
van den Hout, Mirjam C G N;
van Hove, Steven;
Johansson, Lennart F;
Jongbloed, Jan D H;
Kamps, Rick;
Kockx, Christel E M;
de Koning, Bart

Publication type:

Article

Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus.

Published in:

European Journal of Human Genetics, 2013, v. 21, n. 5, p. 487, doi. 10.1038/ejhg.2012.206

By:

Harakalova, Magdalena;
van der Smagt, Jasper;
de Kovel, Carolien G F;
van't Slot, Ruben;
Poot, Martin;
Nijman, Isaac J;
Medic, Jelena;
Joziasse, Irene;
Deckers, Jaap;
Roos-Hesselink, Jolien W;
Wessels, Marja W;
Baars, Hubert F;
Weiss, Marjan M;
Pals, Gerard;
Golmard, Lisa;
Jeunemaitre, Xavier;
Lindhout, Dick;
Cuppen, Edwin;
Baas, Annette F

Publication type:

Article

Discovery of variants unmasked by hemizygous deletions.

Published in:

European Journal of Human Genetics, 2012, v. 20, n. 7, p. 748, doi. 10.1038/ejhg.2011.263

By:

Hochstenbach, Ron;
Poot, Martin;
Nijman, Isaac J;
Renkens, Ivo;
Duran, Karen J;
van'T Slot, Ruben;
van Binsbergen, Ellen;
van der Zwaag, Bert;
Vogel, Maartje J;
Terhal, Paulien A;
Ploos van Amstel, Hans Kristian;
Kloosterman, Wigard P;
Cuppen, Edwin

Publication type:

Article

Effector identification in the lettuce downy mildew Bremia lactucae by massively parallel transcriptome sequencing.

Published in:

Molecular Plant Pathology, 2012, v. 13, n. 7, p. 719, doi. 10.1111/j.1364-3703.2011.00780.x

By:

STASSEN, JOOST H. M.;
SEIDL, MICHAEL F.;
VERGEER, PIM W. J.;
NIJMAN, ISAÄC J.;
SNEL, BEREND;
CUPPEN, EDWIN;
VAN DEN ACKERVEKEN, GUIDO

Publication type:

Article

Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 11, p. 2158, doi. 10.1093/hmg/ddw082

By:

Josifova, Dragana J.;
Monroe, Glen R.;
Tessadori, Federico;
Graaff, Esther de;
van der Zwaag2, Bert;
Mehta, Sarju G.;
Harakalova, Magdalena;
Duran, Karen J.;
Savelberg, Sanne M.C.;
Nijman, Isaäc J.;
Jungbluth, Heinz;
Hoogenraad, Casper C.;
Bakkers, Jeroen;
Knoers, Nine V.;
Firth, Helen V.;
Beales, Philip L.;
Haaften, Gijs van;
van Haelst, Mieke M.

Publication type:

Article

Genetic Etiology of Renal Agenesis: Fine Mapping of Renag1 and Identification of Kit as the Candidate Functional Gene.

Published in:

PLoS ONE, 2015, v. 10, n. 2, p. 1, doi. 10.1371/journal.pone.0118147

By:

Samanas, Nyssa Becker;
Commers, Tessa W.;
Dennison, Kirsten L.;
Harenda, Quincy Eckert;
Kurz, Scott G.;
Lachel, Cynthia M.;
Wavrin, Kristen Leland;
Bowler, Michael;
Nijman, Isaac J.;
Guryev, Victor;
Cuppen, Edwin;
Hubner, Norbert;
Sullivan, Ruth;
Vezina, Chad M.;
Shull, James D.

Publication type:

Article

Dual Origins of Dairy Cattle Farming -- Evidence from a Comprehensive Survey of European Y-Chromosomal Variation.

Published in:

PLoS ONE, 2011, v. 6, n. 1, p. 1, doi. 10.1371/journal.pone.0015922

By:

Edwards, Ceiridwen J.;
Ginja, Catarina;
Kantanen, Juha;
Pérez-Pardal, Lucía;
Tresset, Anne;
Stock, Frauke;
Gama, Luis T.;
Cecilia, M.;
Penedo, T.;
Bradley, Daniel G.;
Lenstra, Johannes A.;
Nijman, Isaäc J.

Publication type:

Article

Dwarfism with joint laxity in Friesian horses is associated with a splice site mutation in B4GALT7.

Published in:

BMC Genomics, 2016, v. 17, p. 1, doi. 10.1186/s12864-016-3186-0

By:

Leegwater, Peter A.;
Vos-Loohuis, Manon;
Ducro, Bart J.;
Boegheim, Iris J.;
van Steenbeek, Frank G.;
Nijman, Isaac J.;
Monroe, Glen R.;
Bastiaansen, John W. M.;
Dibbits, Bert W.;
van de Goor, Leanne H.;
Hellinga, Ids;
Back, Willem;
Schurink, Anouk

Publication type:

Article

Mismatch repair deficiency does not enhance ENU mutagenesis in the zebrafish germ line.

Published in:

Mutagenesis, 2008, v. 23, n. 4, p. 325, doi. 10.1093/mutage/gen019

By:

Harma Feitsma;
Ewart de Bruijn;
Jose van de Belt;
Isaac J. Nijman;
Edwin Cuppen

Publication type:

Article

De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1566, doi. 10.1002/ajmg.a.37598

By:

Stokman, Marijn F.;
Oud, Machteld M.;
van Binsbergen, Ellen;
Slaats, Gisela G.;
Nicolaou, Nayia;
Renkema, Kirsten Y.;
Nijman, Isaac J.;
Roepman, Ronald;
Giles, Rachel H.;
Arts, Heleen H.;
Knoers, Nine V. A. M.;
van Haelst, Mieke M.

Publication type:

Article

Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1196, doi. 10.1002/ajmg.a.36997

By:

Monroe, Glen R;
Harakalova, Magdalena;
van der Crabben, Saskia N;
Majoor‐Krakauer, Danielle;
Bertoli‐Avella, Aida M;
Moll, Frans L;
Oranen, Björn I;
Dooijes, Dennis;
Vink, Aryan;
Knoers, Nine V;
Maugeri, Alessandra;
Pals, Gerard;
Nijman, Isaac J;
van Haaften, Gijs;
Baas, Annette F

Publication type:

Article

Identification of factors required for meristem function in Arabidopsis using a novel next generation sequencing fast forward genetics approach.

Published in:

BMC Genomics, 2011, v. 12, n. 1, p. 256, doi. 10.1186/1471-2164-12-256

By:

Mokry, Michal;
Nijman, Isaäc J.;
van Dijken, Anja;
Benjamins, Rene;
Heidstra, Renze;
Scheres, Ben;
Cuppen, Edwin

Publication type:

Article

Pyrosequencing-based comparative genome analysis of the nosocomial pathogen Enterococcus faecium and identification of a large transferable pathogenicity island.

Published in:

BMC Genomics, 2010, v. 11, p. 239, doi. 10.1186/1471-2164-11-239

By:

van Schaik, Willem;
Top, Janetta;
Riley, David R.;
Boekhorst, Jos;
Vrijenhoek, Joyce E. P.;
Schapendonk, Claudia M. E.;
Hendrickx, Antoni P. A.;
Nijman, Isaäc J.;
Bonten, Marc J. M.;
Tettelin, Hervé;
Willems, Rob J. L.

Publication type:

Article

A genome-wide SNP panel for mapping and association studies in the rat.

Published in:

BMC Genomics, 2008, v. 9, p. 1, doi. 10.1186/1471-2164-9-95

By:

Nijman, Isaäc J.;
Kuipers, Sylvia;
Verheul, Mark;
Guryev, Victor;
Cuppen, Edwin

Publication type:

Article

Improved generation of rat gene knockouts by target-selected mutagenesis in mismatch repair-deficient animals.

Published in:

BMC Genomics, 2008, v. 9, p. 1, doi. 10.1186/1471-2164-9-460

By:

van Boxtel, Ruben;
Toonen, Pim W.;
Verheul, Mark;
van Roekel, Henk S.;
Nijman, Isaac J.;
Guryev, Victor;
Cuppen, Edwin

Publication type:

Article

Genome-Wide Pattern of TCF7L2/TCF4 Chromatin Occupancy in Colorectal Cancer Cells.

Published in:

Molecular & Cellular Biology, 2008, v. 28, n. 8, p. 19, doi. 10.1128/MCB.02175-07

By:

Hatzis, Pantelis;
Van der Flier, Laurens G.;
Van Driel, Marc A.;
Guryev, Victor;
Nielsen, Fiona;
Denissov, Sergei;
Nijman, Isaäc J.;
Koster, Jan;
Santo, Evan E.;
Welboren, Willem;
Versteeg, Rogier;
Cuppen, Edwin;
Van de Wetering, Marc;
Clevers, Hans;
Stunnenberg, Hendrik G.

Publication type:

Article

The lymphoid lineage-specific actin-uncapping protein Rltpr is essential for costimulation via CD28 and the development of regulatory T cells.

Published in:

Nature Immunology, 2013, v. 14, n. 8, p. 858, doi. 10.1038/ni.2634

By:

Liang, Yinming;
Cucchetti, Margot;
Roncagalli, Romain;
Yokosuka, Tadashi;
Malzac, Aurélie;
Bertosio, Elodie;
Imbert, Jean;
Nijman, Isaac J;
Suchanek, Miloslav;
Saito, Takashi;
Wülfing, Christoph;
Malissen, Bernard;
Malissen, Marie

Publication type:

Article

Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease.

Published in:

2016

By:

van der Crabben, Saskia N.;
Hennus, Marije P.;
McGregor, Grant A.;
Ritter, Deborah I.;
Nagamani, Sandesh C. S.;
Wells, Owen S.;
Harakalova, Magdalena;
Chinn, Ivan K.;
Alt, Aaron;
Vondrova, Lucie;
Hochstenbach, Ron;
van Montfrans, Joris M.;
Terheggen-Lagro, Suzanne W.;
van Lieshout, Stef;
van Roosmalen, Markus J.;
Renkens, Ivo;
Duran, Karen;
Nijman, Isaac J.;
Kloosterman, Wigard P.;
Hennekam, Eric

Publication type:

journal article