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Research

Publications: Dr Jurgen Groet

Alić I, Goh PA, Murray A, Portelius E, Gkanatsiou E, Gough G, Mok KY, Koschut D et al. ( 2021 ) . Correction: Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain (Molecular Psychiatry, (2021), 26, 10, (5766-5788), 10.1038/s41380-020-0806-5) . Molecular Psychiatry vol. 26 , ( 10 )
Alić I, Goh PA, Murray A, Portelius E, Gkanatsiou E, Gough G, Mok KY, Koschut D et al. ( 2021 ) . Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain . Molecular Psychiatry vol. 26 , ( 10 ) 5766 - 5788 .
Koschut D, Ray D, Li Z, Giarin E, Groet J, Alić I, Kham SKY, Chng WJ et al. ( 2021 ) . RAS-protein activation but not mutation status is an outcome predictor and unifying therapeutic target for high-risk acute lymphoblastic leukemia . Oncogene vol. 40 , ( 4 ) 746 - 762 .
Gough G, O'Brien NL, Alic I, Goh PA, Yeap YJ, Groet J, Nizetic D, Murray A ( 2020 ) . Modeling Down syndrome in cells: From stem cells to organoids . Progress in Brain Research , vol. 251 ,
Strydom A, Heslegrave A, Startin CM, Mok KY, Hardy J, Groet J, Nizetic D, Zetterberg H et al. ( 2018 ) . Neurofilament light as a blood biomarker for neurodegeneration in Down syndrome . Alzheimer's Research and Therapy vol. 10 , ( 1 )
Murray A, Goh P, Yeap Y, Startin C, Hamburg S, Hithersay R, d'Souza H, Mok K et al. ( 2017 ) . [P3–168]: GENETIC DISSECTION OF SEVERITY AND ONSET MODULATORS FOR ALZHEIMER's PATHOLOGY IN DOWN SYNDROME USING CELLULAR SYSTEMS . Alzheimer's & Dementia vol. 13 , ( 7S_Part_20 ) p998 - p999 .
Buss L, Fisher E, Hardy J, Nizetic D, Groet J, Pulford L, Strydom A ( 2016 ) . Intracerebral haemorrhage in Down syndrome: protected or predisposed? . F1000Res vol. 876 ,
Karmiloff-Smith A, Al-Janabi T, D'Souza H, Groet J, Massand E, Mok K, Startin C, Fisher E et al. ( 2016 ) . The importance of understanding individual differences in Down syndrome . F1000Research vol. 5 ,
Goh P, Murray A, Rovelet-Lecrux A, Wallon D, Karmiloff-Smith A, Hardy J, Strydom A, Groet J et al. ( 2015 ) . MODELLING NEURAL PATHOLOGY AND DEMENTIA IN DOWN SYNDROME USING INDUCED PLURIPOTENT STEM CELLS . JOURNAL OF INTELLECTUAL DISABILITY RESEARCH vol. 59 , ( 9 ) 790 - 790 .
Murray A, Letourneau A, Canzonetta C, Stathaki E, Gimelli S, Sloan-Bena F, Abrehart R, Goh P et al. ( 2015 ) . Brief Report: Isogenic Induced Pluripotent Stem Cell Lines From an Adult With Mosaic Down Syndrome Model Accelerated Neuronal Ageing and Neurodegeneration . STEM CELLS vol. 33 , ( 6 ) 2077 - 2084 .
Nikolaev SI, Garieri M, Santoni F, Falconnet E, Ribaux P, Guipponi M, Murray A, Groet J et al. ( 2014 ) . Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations . Nat Commun vol. 5 ,
Nikolaev SI, Santoni F, Vannier A, Falconnet E, Giarin E, Basso G, Hoischen A, Veltman JA et al. ( 2013 ) . Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome . Blood vol. 122 , ( 4 ) 554 - 561 .
Nižetić D, Groet J ( 2012 ) . Tumorigenesis in Down's syndrome: big lessons from a small chromosome . Nat Rev Cancer vol. 12 , ( 10 ) 721 - 732 .
Canzonetta C, Hoischen A, Giarin E, Basso G, Veltman JA, Nacheva E, Nizetic D, Groet J ( 2012 ) . Amplified segment in the 'Down syndrome critical region' on HSA21 shared between Down syndrome and euploid AML-M0 excludes RUNX1, ERG and ETS2 . Br J Haematol vol. 157 , ( 2 ) 197 - 200 .
De Vita S, Canzonetta C, Mulligan C, Delom F, Groet J, Baldo C, Vanes L, Dagna-Bricarelli F et al. ( 2010 ) . Trisomic dose of several chromosome 21 genes perturbs haematopoietic stem and progenitor cell differentiation in Down's syndrome . Oncogene vol. 29 , ( 46 ) 6102 - 6114 .
Delom F, Burt E, Hoischen A, Veltman J, Groet J, Cotter FE, Nizetic D ( 2009 ) . Transchromosomic cell model of Down syndrome shows aberrant migration, adhesion and proteome response to extracellular matrix . Proteome Sci vol. 7 ,
Wang Y, Mulligan C, Denyer G, Delom F, Dagna-Bricarelli F, Tybulewicz VLJ, Fisher EMC, Griffiths WJ et al. ( 2009 ) . Quantitative proteomics characterization of a mouse embryonic stem cell model of Down syndrome . Mol Cell Proteomics vol. 8 , ( 4 ) 585 - 595 .
De Vita S, Devoy A, Groet J, Kruslin B, Kuzmic-Prusac I, Nizetic D ( 2008 ) . Megakaryocyte hyperproliferation without GATA1 mutation in foetal liver of a case of Down syndrome with hydrops foetalis . BRIT J HAEMATOL vol. 143 , ( 2 ) 300 - 303 .
Canzonetta C, Mulligan C, Deutsch S, Ruf S, O'Doherty A, Lyle R, Borel C, Lin-Marq N et al. ( 2008 ) . DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome . AM J HUM GENET vol. 83 , ( 3 ) 388 - 400 .
Mensah A, Mulligan C, Linehan J, Ruf S, O'Doherty A, Grygalewicz B, Shipley J, GROET J et al. ( 2007 ) . An additional human chromosome 21 causes suppression of neural fate of pluripotent mouse embryonic stem cells in a teratoma model . BMC Dev Biol vol. 7 ,
De Vita S, Mulligan C, McElwaine S, Dagna-Bricarelli F, Spinelli M, Basso G, Nizetic D, GROET J ( 2007 ) . Loss-of-function JAK3 mutations in TMD and AMKL of Down Syndrome . Br J Haematol. vol. 137 , 337 - 341 .
GROET J, Mulligan C, Spinelli M, Serra A, McElwaine S, Cotter F, Dagna Bricarelli F, Saglio G et al. ( 2005 ) . Independent clones at separable stages of differentiation, bearing different GATA1 mutations, in the same TMD patient with Down syndrome . Blood vol. 106 , 1887 - 1888 .
McElwaine S, Mulligan C, Groet J, Spinelli M, Rinaldi A, Denyer G, Mensah A, Cavani S et al. ( 2004 ) . Microarray transcript profiling distinguishes the transient from the acute type of megakaryoblastic leukaemia (M7) in Down's syndrome, revealing PRAME as a specific discriminating marker . Br J Haematol vol. 125 , ( 6 ) 729 - 742 .
Groet J, McElwaine S, Spinelli M, Rinaldi A, Burtscher I, Mulligan C, Mensah A, Cavani S et al. ( 2003 ) . Acquired mutations in GATA1 in neonates with Down's syndrome with transient myeloid disorder . Lancet vol. 361 , ( 9369 ) 1617 - 1620 .
Groet J, Ives JH, Jones TA, Chen L, Danton M, Flomen RH, Sheer D, Hrascan R et al. ( 2001 ) . Allelic loss in the gene-poor band 21q11 -> q21 in squamous non-small cell lung carcinoma: cloning of a novel ubiquitin specific protease from the minimal deleted region . CYTOGENET CELL GENET vol. 92 , ( 1-2 ) 16 - 16 .
Groet J, Chen L, Blechschmidt K, Rosenthal A, Yaspo ML, Nizetic D ( 2001 ) . Structural and functional analysis of a novel human gene (and its mouse homologue), coding for a potential nuclear sam protein, identified within the gene-poor region 21q11, which is associated with abnormal myelopoiesis in Down syndrome . CYTOGENET CELL GENET vol. 92 , ( 1-2 ) 16 - 16 .
Groet J, Ives JH, Jones TA, Danton M, Flomen RH, Sheer D, Hrašćan R, Pavelić K et al. ( 2000 ) . Narrowing of the region of allelic loss in 21q11-21 in squamous non- small cell lung carcinoma and cloning of a novel ubiquitin-specific protease gene from the deleted segment . Genes Chromosomes and Cancer vol. 27 , ( 2 ) 153 - 161 .
Potier MC, Dutriaux A, Orti R, Groet J, Gibelin N, Karadima G, Lutfalla G, Lynn A et al. ( 1998 ) . Two sequence-ready contigs spanning the two copies of a 200-kb duplication on human 21q: Partial sequence and polymorphisms . Genomics vol. 51 , ( 3 ) 417 - 426 .
Katsanis N, Ives JH, Groet J, Nizetic D, Fisher EMC ( 1998 ) . Localisation of receptor interacting protein 140 (RIP140) within 100 kb of D21S13 on 21q11, a gene-poor region of the human genome . Human Genetics vol. 102 , ( 2 ) 221 - 223 .
Vidal-Taboada JM, Bergoñón S, Sánchez M, López-Acedo C, Groet J, Nizetic D, Egeo A, Scartezzini P et al. ( 1998 ) . High resolution physical mapping and identification of transcribed sequences in the Down syndrome region-2 . Biochemical and Biophysical Research Communications vol. 243 , ( 2 ) 572 - 578 .
Flomen RH, Vatcheva R, Gorman PA, Baptista PR, Groet J, Barišić I, Ligutic I, Nižetić D ( 1998 ) . Construction and analysis of a sequence-ready map in 4q25: Rieger syndrome can be caused by haploinsufficiency of REIG, but also by chromosome breaks κ90 kb upstream of this gene . Genomics vol. 47 , ( 3 ) 409 - 413 .
Groet J, Ives JH, South AP, Baptista PR, Jones TA, Yaspo ML, Lehrach H, Potier MC et al. ( 1998 ) . Bacterial contig map of the 21q11 region associated with Alzheimer's disease and abnormal myelopoiesis in Down syndrome . Genome Research vol. 8 , ( 4 ) 385 - 398 .
Flomen RH, Gorman PA, Vatcheva R, Groet J, Barišić I, Ligutić I, Sheer D, Nižetić D ( 1997 ) . Rieger syndrome locus: A new reciprocal translocation t(4;12)(q25;q15) and a deletion del(4)(q25q27) both break between markers D4S2945 and D4S193 . Journal of Medical Genetics vol. 34 , ( 3 ) 191 - 195 .
Osoegawa K, Susukida R, Okano S, Kudoh J, Minoshima S, Shimizu N, De Jong PJ, Groet J et al. ( 1996 ) . An integrated map with cosmid/PAC contigs of a 4-Mb Down syndrome critical region . Genomics vol. 32 , ( 3 ) 375 - 387 .