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Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.

American journal of human genetics

Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, Hitz MP, Lindsay S, D'Alessandro LCA, Swaminathan GJ, Bentham J, Arndt AK, Louw J, Breckpot J, Gewillig M, Thienpont B, Abdul-Khaliq H, Harnack C, Hoff K, Kramer HH, Schubert S, Siebert R, Toka O, Cosgrove C, Watkins H, Lucassen AM, O'Kelly IM, Salmon AP, Bu'Lock FA, Granados-Riveron J, Setchfield K, Thornborough C, Brook JD, Mulder B, Klaassen S, Bhattacharya S, Devriendt K, FitzPatrick DR, Wilson DI, Mital S, Hurles ME.
PMID: 28863274
Am J Hum Genet. 2016 Mar 03;98(3):592. doi: 10.1016/j.ajhg.2016.02.016. Epub 2016 Mar 03.

No abstract available.

Cite
Al Turki S, Manickaraj AK, Mercer CL, et al. Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans. Am J Hum Genet. 2016;98(3):592doi: 10.1016/j.ajhg.2016.02.016.
Al Turki, S., Manickaraj, A. K., Mercer, C. L., Gerety, S. S., Hitz, M. P., Lindsay, S., D'Alessandro, L. C. A., Swaminathan, G. J., Bentham, J., Arndt, A. K., Louw, J., Breckpot, J., Gewillig, M., Thienpont, B., Abdul-Khaliq, H., Harnack, C., Hoff, K., Kramer, H. H., Schubert, S., Siebert, R., Toka, O., Cosgrove, C., Watkins, H., Lucassen, A. M., O'Kelly, I. M., Salmon, A. P., Bu'Lock, F. A., Granados-Riveron, J., Setchfield, K., Thornborough, C., Brook, J. D., Mulder, B., Klaassen, S., Bhattacharya, S., Devriendt, K., FitzPatrick, D. R., Wilson, D. I., Mital, S., & Hurles, M. E. (2016). Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans. American journal of human genetics, 98(3), 592. https://doi.org/10.1016/j.ajhg.2016.02.016
Al Turki, Saeed, et al. "Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans." American journal of human genetics vol. 98,3 (2016): 592. doi: https://doi.org/10.1016/j.ajhg.2016.02.016
Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, Hitz MP, Lindsay S, D'Alessandro LCA, Swaminathan GJ, Bentham J, Arndt AK, Louw J, Breckpot J, Gewillig M, Thienpont B, Abdul-Khaliq H, Harnack C, Hoff K, Kramer HH, Schubert S, Siebert R, Toka O, Cosgrove C, Watkins H, Lucassen AM, O'Kelly IM, Salmon AP, Bu'Lock FA, Granados-Riveron J, Setchfield K, Thornborough C, Brook JD, Mulder B, Klaassen S, Bhattacharya S, Devriendt K, FitzPatrick DR, Wilson DI, Mital S, Hurles ME. Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans. Am J Hum Genet. 2016 Mar 03;98(3):592. doi: 10.1016/j.ajhg.2016.02.016. Epub 2016 Mar 03. PMID: 28863274; PMCID: PMC4800046.
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Particle-mediated Intravenous Delivery of Antigen mRNA Results in Strong Antigen-specific T-cell Responses Despite the Induction of Type I Interferon.

Molecular therapy. Nucleic acids

Broos K, Van der Jeught K, Puttemans J, Goyvaerts C, Heirman C, Dewitte H, Verbeke R, Lentacker I, Thielemans K, Breckpot K.
PMID: 27327138
Mol Ther Nucleic Acids. 2016 Jun 21;5(6):e326. doi: 10.1038/mtna.2016.38.

Cancer vaccines based on mRNA are extensively studied. The fragile nature of mRNA has instigated research into carriers that can protect it from ribonucleases and as such enable its systemic use. However, carrier-mediated delivery of mRNA has been linked...

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Broos K, Van der Jeught K, Puttemans J, et al. Particle-mediated Intravenous Delivery of Antigen mRNA Results in Strong Antigen-specific T-cell Responses Despite the Induction of Type I Interferon. Mol Ther Nucleic Acids. 2016;5(6):e326doi: 10.1038/mtna.2016.38.
Broos, K., Van der Jeught, K., Puttemans, J., Goyvaerts, C., Heirman, C., Dewitte, H., Verbeke, R., Lentacker, I., Thielemans, K., & Breckpot, K. (2016). Particle-mediated Intravenous Delivery of Antigen mRNA Results in Strong Antigen-specific T-cell Responses Despite the Induction of Type I Interferon. Molecular therapy. Nucleic acids, 5(6), e326. https://doi.org/10.1038/mtna.2016.38
Broos, Katrijn, et al. "Particle-mediated Intravenous Delivery of Antigen mRNA Results in Strong Antigen-specific T-cell Responses Despite the Induction of Type I Interferon." Molecular therapy. Nucleic acids vol. 5,6 (2016): e326. doi: https://doi.org/10.1038/mtna.2016.38
Broos K, Van der Jeught K, Puttemans J, Goyvaerts C, Heirman C, Dewitte H, Verbeke R, Lentacker I, Thielemans K, Breckpot K. Particle-mediated Intravenous Delivery of Antigen mRNA Results in Strong Antigen-specific T-cell Responses Despite the Induction of Type I Interferon. Mol Ther Nucleic Acids. 2016 Jun 21;5(6):e326. doi: 10.1038/mtna.2016.38. PMID: 27327138; PMCID: PMC5022130.
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Cancer-Associated Myeloid Regulatory Cells.

Frontiers in immunology

De Vlaeminck Y, González-Rascón A, Goyvaerts C, Breckpot K.
PMID: 27065074
Front Immunol. 2016 Mar 29;7:113. doi: 10.3389/fimmu.2016.00113. eCollection 2016.

Myeloid cells are critically involved in the pathophysiology of cancers. In the tumor microenvironment (TME), they comprise tumor-associated macrophages (TAMs), neutrophils (TANs), dendritic cells, and myeloid-derived suppressor cells, which are further subdivided into a monocytic subset and a granulocytic...

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De Vlaeminck Y, González-Rascón A, Goyvaerts C, et al. Cancer-Associated Myeloid Regulatory Cells. Front Immunol. 2016;7:113doi: 10.3389/fimmu.2016.00113.
De Vlaeminck, Y., González-Rascón, A., Goyvaerts, C., & Breckpot, K. (2016). Cancer-Associated Myeloid Regulatory Cells. Frontiers in immunology, 7113. https://doi.org/10.3389/fimmu.2016.00113
De Vlaeminck, Yannick, et al. "Cancer-Associated Myeloid Regulatory Cells." Frontiers in immunology vol. 7 (2016): 113. doi: https://doi.org/10.3389/fimmu.2016.00113
De Vlaeminck Y, González-Rascón A, Goyvaerts C, Breckpot K. Cancer-Associated Myeloid Regulatory Cells. Front Immunol. 2016 Mar 29;7:113. doi: 10.3389/fimmu.2016.00113. eCollection 2016. PMID: 27065074; PMCID: PMC4810015.
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Collaboratively charting the gene-to-phenotype network of human congenital heart defects.

Genome medicine

Barriot R, Breckpot J, Thienpont B, Brohée S, Van Vooren S, Coessens B, Tranchevent LC, Van Loo P, Gewillig M, Devriendt K, Moreau Y.
PMID: 20193066
Genome Med. 2010 Mar 01;2(3):16. doi: 10.1186/gm137.

BACKGROUND: How to efficiently integrate the daily practice of molecular biologists, geneticists, and clinicians with the emerging computational strategies from systems biology is still much of an open question.DESCRIPTION: We built on the recent advances in Wiki-based technologies to...

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Barriot R, Breckpot J, Thienpont B, et al. Collaboratively charting the gene-to-phenotype network of human congenital heart defects. Genome Med. 2010;2(3):16doi: 10.1186/gm137.
Barriot, R., Breckpot, J., Thienpont, B., Brohée, S., Van Vooren, S., Coessens, B., Tranchevent, L. C., Van Loo, P., Gewillig, M., Devriendt, K., & Moreau, Y. (2010). Collaboratively charting the gene-to-phenotype network of human congenital heart defects. Genome medicine, 2(3), 16. https://doi.org/10.1186/gm137
Barriot, Roland, et al. "Collaboratively charting the gene-to-phenotype network of human congenital heart defects." Genome medicine vol. 2,3 (2010): 16. doi: https://doi.org/10.1186/gm137
Barriot R, Breckpot J, Thienpont B, Brohée S, Van Vooren S, Coessens B, Tranchevent LC, Van Loo P, Gewillig M, Devriendt K, Moreau Y. Collaboratively charting the gene-to-phenotype network of human congenital heart defects. Genome Med. 2010 Mar 01;2(3):16. doi: 10.1186/gm137. PMID: 20193066; PMCID: PMC2873794.
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Retroviral and lentiviral vectors for the induction of immunological tolerance.

Scientifica

Dufait I, Liechtenstein T, Lanna A, Bricogne C, Laranga R, Padella A, Breckpot K, Escors D.
PMID: 23526794
Scientifica (Cairo). 2012 Dec;2012. doi: 10.6064/2012/694137.

No abstract available.

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Dufait I, Liechtenstein T, Lanna A, et al. Retroviral and lentiviral vectors for the induction of immunological tolerance. Scientifica (Cairo). 2012;2012doi: 10.6064/2012/694137.
Dufait, I., Liechtenstein, T., Lanna, A., Bricogne, C., Laranga, R., Padella, A., Breckpot, K., & Escors, D. (2012). Retroviral and lentiviral vectors for the induction of immunological tolerance. Scientifica, 2012. https://doi.org/10.6064/2012/694137
Dufait, Inès, et al. "Retroviral and lentiviral vectors for the induction of immunological tolerance." Scientifica vol. 2012 (2012). doi: https://doi.org/10.6064/2012/694137
Dufait I, Liechtenstein T, Lanna A, Bricogne C, Laranga R, Padella A, Breckpot K, Escors D. Retroviral and lentiviral vectors for the induction of immunological tolerance. Scientifica (Cairo). 2012 Dec;2012. doi: 10.6064/2012/694137. PMID: 23526794; PMCID: PMC3605697.
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Epigenetic treatment of multiple myeloma mediates tumor intrinsic and extrinsic immunomodulatory effects.

Oncoimmunology

De Beck L, Melhaoui S, De Veirman K, Menu E, De Bruyne E, Vanderkerken K, Breckpot K, Maes K.
PMID: 30288346
Oncoimmunology. 2018 Jul 23;7(10):e1484981. doi: 10.1080/2162402X.2018.1484981. eCollection 2018.

Immune evasion is an important driver of disease progression in the plasma cell malignancy multiple myeloma. Recent work highlights the potential of epigenetic modulating agents as tool to enhance anti-tumor immunity. The immune modulating effects of the combination of...

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De Beck L, Melhaoui S, De Veirman K, et al. Epigenetic treatment of multiple myeloma mediates tumor intrinsic and extrinsic immunomodulatory effects. Oncoimmunology. 2018;7(10):e1484981doi: 10.1080/2162402X.2018.1484981.
De Beck, L., Melhaoui, S., De Veirman, K., Menu, E., De Bruyne, E., Vanderkerken, K., Breckpot, K., & Maes, K. (2018). Epigenetic treatment of multiple myeloma mediates tumor intrinsic and extrinsic immunomodulatory effects. Oncoimmunology, 7(10), e1484981. https://doi.org/10.1080/2162402X.2018.1484981
De Beck, Lien, et al. "Epigenetic treatment of multiple myeloma mediates tumor intrinsic and extrinsic immunomodulatory effects." Oncoimmunology vol. 7,10 (2018): e1484981. doi: https://doi.org/10.1080/2162402X.2018.1484981
De Beck L, Melhaoui S, De Veirman K, Menu E, De Bruyne E, Vanderkerken K, Breckpot K, Maes K. Epigenetic treatment of multiple myeloma mediates tumor intrinsic and extrinsic immunomodulatory effects. Oncoimmunology. 2018 Jul 23;7(10):e1484981. doi: 10.1080/2162402X.2018.1484981. eCollection 2018. PMID: 30288346; PMCID: PMC6169579.
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Molecular and Translational Classifications of DAMPs in Immunogenic Cell Death.

Frontiers in immunology

Garg AD, Galluzzi L, Apetoh L, Baert T, Birge RB, Bravo-San Pedro JM, Breckpot K, Brough D, Chaurio R, Cirone M, Coosemans A, Coulie PG, De Ruysscher D, Dini L, de Witte P, Dudek-Peric AM, Faggioni A, Fucikova J, Gaipl US, Golab J, Gougeon ML, Hamblin MR, Hemminki A, Herrmann M, Hodge JW, Kepp O, Kroemer G, Krysko DV, Land WG, Madeo F, Manfredi AA, Mattarollo SR, Maueroder C, Merendino N, Multhoff G, Pabst T, Ricci JE, Riganti C, Romano E, Rufo N, Smyth MJ, Sonnemann J, Spisek R, Stagg J, Vacchelli E, Vandenabeele P, Vandenberk L, Van den Eynde BJ, Van Gool S, Velotti F, Zitvogel L, Agostinis P.
PMID: 26635802
Front Immunol. 2015 Nov 20;6:588. doi: 10.3389/fimmu.2015.00588. eCollection 2015.

The immunogenicity of malignant cells has recently been acknowledged as a critical determinant of efficacy in cancer therapy. Thus, besides developing direct immunostimulatory regimens, including dendritic cell-based vaccines, checkpoint-blocking therapies, and adoptive T-cell transfer, researchers have started to focus...

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Garg AD, Galluzzi L, Apetoh L, et al. Molecular and Translational Classifications of DAMPs in Immunogenic Cell Death. Front Immunol. 2015;6:588doi: 10.3389/fimmu.2015.00588.
Garg, A. D., Galluzzi, L., Apetoh, L., Baert, T., Birge, R. B., Bravo-San Pedro, J. M., Breckpot, K., Brough, D., Chaurio, R., Cirone, M., Coosemans, A., Coulie, P. G., De Ruysscher, D., Dini, L., de Witte, P., Dudek-Peric, A. M., Faggioni, A., Fucikova, J., Gaipl, U. S., Golab, J., Gougeon, M. L., Hamblin, M. R., Hemminki, A., Herrmann, M., Hodge, J. W., Kepp, O., Kroemer, G., Krysko, D. V., Land, W. G., Madeo, F., Manfredi, A. A., Mattarollo, S. R., Maueroder, C., Merendino, N., Multhoff, G., Pabst, T., Ricci, J. E., Riganti, C., Romano, E., Rufo, N., Smyth, M. J., Sonnemann, J., Spisek, R., Stagg, J., Vacchelli, E., Vandenabeele, P., Vandenberk, L., Van den Eynde, B. J., Van Gool, S., Velotti, F., Zitvogel, L., & Agostinis, P. (2015). Molecular and Translational Classifications of DAMPs in Immunogenic Cell Death. Frontiers in immunology, 6588. https://doi.org/10.3389/fimmu.2015.00588
Garg, Abhishek D, et al. "Molecular and Translational Classifications of DAMPs in Immunogenic Cell Death." Frontiers in immunology vol. 6 (2015): 588. doi: https://doi.org/10.3389/fimmu.2015.00588
Garg AD, Galluzzi L, Apetoh L, Baert T, Birge RB, Bravo-San Pedro JM, Breckpot K, Brough D, Chaurio R, Cirone M, Coosemans A, Coulie PG, De Ruysscher D, Dini L, de Witte P, Dudek-Peric AM, Faggioni A, Fucikova J, Gaipl US, Golab J, Gougeon ML, Hamblin MR, Hemminki A, Herrmann M, Hodge JW, Kepp O, Kroemer G, Krysko DV, Land WG, Madeo F, Manfredi AA, Mattarollo SR, Maueroder C, Merendino N, Multhoff G, Pabst T, Ricci JE, Riganti C, Romano E, Rufo N, Smyth MJ, Sonnemann J, Spisek R, Stagg J, Vacchelli E, Vandenabeele P, Vandenberk L, Van den Eynde BJ, Van Gool S, Velotti F, Zitvogel L, Agostinis P. Molecular and Translational Classifications of DAMPs in Immunogenic Cell Death. Front Immunol. 2015 Nov 20;6:588. doi: 10.3389/fimmu.2015.00588. eCollection 2015. PMID: 26635802; PMCID: PMC4653610.
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Perforin and Granzyme B Expressed by Murine Myeloid-Derived Suppressor Cells: A Study on Their Role in Outgrowth of Cancer Cells.

Cancers

Dufait I, Pardo J, Escors D, De Vlaeminck Y, Jiang H, Keyaerts M, De Ridder M, Breckpot K.
PMID: 31212684
Cancers (Basel). 2019 Jun 11;11(6). doi: 10.3390/cancers11060808.

A wide-range of myeloid-derived suppressor cell (MDSC)-mediated immune suppressive functions has previously been described. Nevertheless, potential novel mechanisms by which MDSCs aid tumor progression are, in all likelihood, still unrecognized. Next to its well-known expression in natural killer cells...

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Dufait I, Pardo J, Escors D, et al. Perforin and Granzyme B Expressed by Murine Myeloid-Derived Suppressor Cells: A Study on Their Role in Outgrowth of Cancer Cells. Cancers (Basel). 2019;11(6)doi: 10.3390/cancers11060808.
Dufait, I., Pardo, J., Escors, D., De Vlaeminck, Y., Jiang, H., Keyaerts, M., De Ridder, M., & Breckpot, K. (2019). Perforin and Granzyme B Expressed by Murine Myeloid-Derived Suppressor Cells: A Study on Their Role in Outgrowth of Cancer Cells. Cancers, 11(6), . https://doi.org/10.3390/cancers11060808
Dufait, Inès, et al. "Perforin and Granzyme B Expressed by Murine Myeloid-Derived Suppressor Cells: A Study on Their Role in Outgrowth of Cancer Cells." Cancers vol. 11,6 (2019). doi: https://doi.org/10.3390/cancers11060808
Dufait I, Pardo J, Escors D, De Vlaeminck Y, Jiang H, Keyaerts M, De Ridder M, Breckpot K. Perforin and Granzyme B Expressed by Murine Myeloid-Derived Suppressor Cells: A Study on Their Role in Outgrowth of Cancer Cells. Cancers (Basel). 2019 Jun 11;11(6). doi: 10.3390/cancers11060808. PMID: 31212684; PMCID: PMC6627828.
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Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion.

Molecular psychiatry

Cleynen I, Engchuan W, Hestand MS, Heung T, Holleman AM, Johnston HR, Monfeuga T, McDonald-McGinn DM, Gur RE, Morrow BE, Swillen A, Vorstman JAS, Bearden CE, Chow EWC, van den Bree M, Emanuel BS, Vermeesch JR, Warren ST, Owen MJ, Chopra P, Cutler DJ, Duncan R, Kotlar AV, Mulle JG, Voss AJ, Zwick ME, Diacou A, Golden A, Guo T, Lin JR, Wang T, Zhang Z, Zhao Y, Marshall C, Merico D, Jin A, Lilley B, Salmons HI, Tran O, Holmans P, Pardinas A, Walters JTR, Demaerel W, Boot E, Butcher NJ, Costain GA, Lowther C, Evers R, van Amelsvoort TAMJ, van Duin E, Vingerhoets C, Breckpot J, Devriendt K, Vergaelen E, Vogels A, Crowley TB, McGinn DE, Moss EM, Sharkus RJ, Unolt M, Zackai EH, Calkins ME, Gallagher RS, Gur RC, Tang SX, Fritsch R, Ornstein C, Repetto GM, Breetvelt E, Duijff SN, Fiksinski A, Moss H, Niarchou M, Murphy KC, Prasad SE, Daly EM, Gudbrandsen M, Murphy CM, Murphy DG, Buzzanca A, Fabio FD, Digilio MC, Pontillo M, Marino B, Vicari S, Coleman K, Cubells JF, Ousley OY, Carmel M, Gothelf D, Mekori-Domachevsky E, Michaelovsky E, Weinberger R, Weizman A, Kushan L, Jalbrzikowski M, Armando M, Eliez S, Sandini C, Schneider M, Béna FS, Antshel KM, Fremont W, Kates WR, Belzeaux R, Busa T, Philip N, Campbell LE, McCabe KL, Hooper SR, Schoch K, Shashi V, Simon TJ, Tassone F, Arango C, Fraguas D, García-Miñaúr S, Morey-Canyelles J, Rosell J, Suñer DH, Raventos-Simic J, Epstein MP, Williams NM, Bassett AS.
PMID: 32015465
Mol Psychiatry. 2021 Aug;26(8):4496-4510. doi: 10.1038/s41380-020-0654-3. Epub 2020 Feb 03.

Schizophrenia occurs in about one in four individuals with 22q11.2 deletion syndrome (22q11.2DS). The aim of this International Brain and Behavior 22q11.2DS Consortium (IBBC) study was to identify genetic factors that contribute to schizophrenia, in addition to the ~20-fold...

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Cleynen I, Engchuan W, Hestand MS, et al. Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion. Mol Psychiatry. 2020;26(8):4496-4510doi: 10.1038/s41380-020-0654-3.
Cleynen, I., Engchuan, W., Hestand, M. S., Heung, T., Holleman, A. M., Johnston, H. R., Monfeuga, T., McDonald-McGinn, D. M., Gur, R. E., Morrow, B. E., Swillen, A., Vorstman, J. A. S., Bearden, C. E., Chow, E. W. C., van den Bree, M., Emanuel, B. S., Vermeesch, J. R., Warren, S. T., Owen, M. J., Chopra, P., Cutler, D. J., Duncan, R., Kotlar, A. V., Mulle, J. G., Voss, A. J., Zwick, M. E., Diacou, A., Golden, A., Guo, T., Lin, J. R., Wang, T., Zhang, Z., Zhao, Y., Marshall, C., Merico, D., Jin, A., Lilley, B., Salmons, H. I., Tran, O., Holmans, P., Pardinas, A., Walters, J. T. R., Demaerel, W., Boot, E., Butcher, N. J., Costain, G. A., Lowther, C., Evers, R., van Amelsvoort, T. A. M. J., van Duin, E., Vingerhoets, C., Breckpot, J., Devriendt, K., Vergaelen, E., Vogels, A., Crowley, T. B., McGinn, D. E., Moss, E. M., Sharkus, R. J., Unolt, M., Zackai, E. H., Calkins, M. E., Gallagher, R. S., Gur, R. C., Tang, S. X., Fritsch, R., Ornstein, C., Repetto, G. M., Breetvelt, E., Duijff, S. N., Fiksinski, A., Moss, H., Niarchou, M., Murphy, K. C., Prasad, S. E., Daly, E. M., Gudbrandsen, M., Murphy, C. M., Murphy, D. G., Buzzanca, A., Fabio, F. D., Digilio, M. C., Pontillo, M., Marino, B., Vicari, S., Coleman, K., Cubells, J. F., Ousley, O. Y., Carmel, M., Gothelf, D., Mekori-Domachevsky, E., Michaelovsky, E., Weinberger, R., Weizman, A., Kushan, L., Jalbrzikowski, M., Armando, M., Eliez, S., Sandini, C., Schneider, M., Béna, F. S., Antshel, K. M., Fremont, W., Kates, W. R., Belzeaux, R., Busa, T., Philip, N., Campbell, L. E., McCabe, K. L., Hooper, S. R., Schoch, K., Shashi, V., Simon, T. J., Tassone, F., Arango, C., Fraguas, D., García-Miñaúr, S., Morey-Canyelles, J., Rosell, J., Suñer, D. H., Raventos-Simic, J., Epstein, M. P., Williams, N. M., & Bassett, A. S. (2021). Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion. Molecular psychiatry, 26(8), 4496-4510. https://doi.org/10.1038/s41380-020-0654-3
Cleynen, Isabelle, et al. "Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion." Molecular psychiatry vol. 26,8 (2021): 4496-4510. doi: https://doi.org/10.1038/s41380-020-0654-3
Cleynen I, Engchuan W, Hestand MS, Heung T, Holleman AM, Johnston HR, Monfeuga T, McDonald-McGinn DM, Gur RE, Morrow BE, Swillen A, Vorstman JAS, Bearden CE, Chow EWC, van den Bree M, Emanuel BS, Vermeesch JR, Warren ST, Owen MJ, Chopra P, Cutler DJ, Duncan R, Kotlar AV, Mulle JG, Voss AJ, Zwick ME, Diacou A, Golden A, Guo T, Lin JR, Wang T, Zhang Z, Zhao Y, Marshall C, Merico D, Jin A, Lilley B, Salmons HI, Tran O, Holmans P, Pardinas A, Walters JTR, Demaerel W, Boot E, Butcher NJ, Costain GA, Lowther C, Evers R, van Amelsvoort TAMJ, van Duin E, Vingerhoets C, Breckpot J, Devriendt K, Vergaelen E, Vogels A, Crowley TB, McGinn DE, Moss EM, Sharkus RJ, Unolt M, Zackai EH, Calkins ME, Gallagher RS, Gur RC, Tang SX, Fritsch R, Ornstein C, Repetto GM, Breetvelt E, Duijff SN, Fiksinski A, Moss H, Niarchou M, Murphy KC, Prasad SE, Daly EM, Gudbrandsen M, Murphy CM, Murphy DG, Buzzanca A, Fabio FD, Digilio MC, Pontillo M, Marino B, Vicari S, Coleman K, Cubells JF, Ousley OY, Carmel M, Gothelf D, Mekori-Domachevsky E, Michaelovsky E, Weinberger R, Weizman A, Kushan L, Jalbrzikowski M, Armando M, Eliez S, Sandini C, Schneider M, Béna FS, Antshel KM, Fremont W, Kates WR, Belzeaux R, Busa T, Philip N, Campbell LE, McCabe KL, Hooper SR, Schoch K, Shashi V, Simon TJ, Tassone F, Arango C, Fraguas D, García-Miñaúr S, Morey-Canyelles J, Rosell J, Suñer DH, Raventos-Simic J, Epstein MP, Williams NM, Bassett AS. Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion. Mol Psychiatry. 2021 Aug;26(8):4496-4510. doi: 10.1038/s41380-020-0654-3. Epub 2020 Feb 03. PMID: 32015465; PMCID: PMC7396297.
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Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement.

Genetics in medicine : official journal of the American College of Medical Genetics

Micale L, Morlino S, Carbone A, Carissimo A, Nardella G, Fusco C, Palumbo O, Schirizzi A, Russo F, Mazzoccoli G, Breckpot J, De Luca C, Ferraris A, Giunta C, Grammatico P, Haanpää MK, Mancano G, Forzano G, Cacchiarelli D, Van Esch H, Callewaert B, Rohrbach M, Castori M.
PMID: 34906501
Genet Med. 2021 Nov 30; doi: 10.1016/j.gim.2021.10.009. Epub 2021 Nov 30.

PURPOSE: This study aimed to describe a multisystemic disorder featuring cardiovascular, facial, musculoskeletal, and cutaneous anomalies caused by heterozygous loss-of-function variants in TAB2.METHODS: Affected individuals were analyzed by next-generation technologies and genomic array. The presumed loss-of-function effect of identified...

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Micale L, Morlino S, Carbone A, et al. Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement. Genet Med. 2021;doi: 10.1016/j.gim.2021.10.009.
Micale, L., Morlino, S., Carbone, A., Carissimo, A., Nardella, G., Fusco, C., Palumbo, O., Schirizzi, A., Russo, F., Mazzoccoli, G., Breckpot, J., De Luca, C., Ferraris, A., Giunta, C., Grammatico, P., Haanpää, M. K., Mancano, G., Forzano, G., Cacchiarelli, D., Van Esch, H., Callewaert, B., Rohrbach, M., & Castori, M. (2021). Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement. Genetics in medicine : official journal of the American College of Medical Genetics, . https://doi.org/10.1016/j.gim.2021.10.009
Micale, Lucia, et al. "Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement." Genetics in medicine : official journal of the American College of Medical Genetics vol. (2021). doi: https://doi.org/10.1016/j.gim.2021.10.009
Micale L, Morlino S, Carbone A, Carissimo A, Nardella G, Fusco C, Palumbo O, Schirizzi A, Russo F, Mazzoccoli G, Breckpot J, De Luca C, Ferraris A, Giunta C, Grammatico P, Haanpää MK, Mancano G, Forzano G, Cacchiarelli D, Van Esch H, Callewaert B, Rohrbach M, Castori M. Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement. Genet Med. 2021 Nov 30; doi: 10.1016/j.gim.2021.10.009. Epub 2021 Nov 30. PMID: 34906501.
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T-cell subsets in the skin and their role in inflammatory skin disorders.

Allergy

Kortekaas Krohn I, Aerts JL, Breckpot K, Goyvaerts C, Knol E, Van Wijk F, Gutermuth J.
PMID: 34559894
Allergy. 2021 Sep 24; doi: 10.1111/all.15104. Epub 2021 Sep 24.

T lymphocytes (T cells) are major players of the adaptive immune response. Naive T cells are primed in the presence of cytokines, leading to polarization into distinct T-cell subsets with specific functions. These subsets are classified based on their...

Cite
Kortekaas Krohn I, Aerts JL, Breckpot K, et al. T-cell subsets in the skin and their role in inflammatory skin disorders. Allergy. 2021;doi: 10.1111/all.15104.
Kortekaas Krohn, I., Aerts, J. L., Breckpot, K., Goyvaerts, C., Knol, E., Van Wijk, F., & Gutermuth, J. (2021). T-cell subsets in the skin and their role in inflammatory skin disorders. Allergy, . https://doi.org/10.1111/all.15104
Kortekaas Krohn, Inge, et al. "T-cell subsets in the skin and their role in inflammatory skin disorders." Allergy vol. (2021). doi: https://doi.org/10.1111/all.15104
Kortekaas Krohn I, Aerts JL, Breckpot K, Goyvaerts C, Knol E, Van Wijk F, Gutermuth J. T-cell subsets in the skin and their role in inflammatory skin disorders. Allergy. 2021 Sep 24; doi: 10.1111/all.15104. Epub 2021 Sep 24. PMID: 34559894.
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Cross-sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study.

American journal of medical genetics. Part A

Verbesselt J, Zink I, Breckpot J, Swillen A.
PMID: 34491614
Am J Med Genet A. 2022 Jan;188(1):46-57. doi: 10.1002/ajmg.a.62487. Epub 2021 Sep 07.

Duplications on Chromosome 22q11.2 (22q11.2 dup) are associated with a wide spectrum of physical and neurodevelopmental features. In this chart review, physical, developmental, and behavioral features of 28 patients with 22q11.2 dup (median age = 17.11 years) are reported,...

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Verbesselt J, Zink I, Breckpot J, et al. Cross-sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study. Am J Med Genet A. 2021;188(1):46-57doi: 10.1002/ajmg.a.62487.
Verbesselt, J., Zink, I., Breckpot, J., & Swillen, A. (2022). Cross-sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study. American journal of medical genetics. Part A, 188(1), 46-57. https://doi.org/10.1002/ajmg.a.62487
Verbesselt, Jente, et al. "Cross-sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study." American journal of medical genetics. Part A vol. 188,1 (2022): 46-57. doi: https://doi.org/10.1002/ajmg.a.62487
Verbesselt J, Zink I, Breckpot J, Swillen A. Cross-sectional and longitudinal findings in patients with proximal 22q11.2 duplication: A retrospective chart study. Am J Med Genet A. 2022 Jan;188(1):46-57. doi: 10.1002/ajmg.a.62487. Epub 2021 Sep 07. PMID: 34491614.
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