Publications: Dr Jurgen Groet
Murray A, Gough G, Cindrić A, Vučković F, Koschut D, Borelli V, Petrović DJ, Bekavac A et al.
(
2023
)
.
Dose imbalance of DYRK1A kinase causes systemic progeroid status in Down syndrome by increasing the un-repaired DNA damage and reducing LaminB1 levels
.
EBioMedicine
vol.
94
,
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
vol.
26
,
(
10
)
5789
-
5789
.
Koschut D, Ray D, Li Z, Giarin E, Groet J, Alić I, Kham SK-Y, Chng WJ et al.
(
2020
)
.
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
.
Alić I, Goh PA, Murray A, Portelius E, Gkanatsiou E, Gough G, Mok KY, Koschut D et al.
(
2020
)
.
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
.
Gough G, O'Brien NL, Alic I, Goh PA, Yeap YJ, Groet J, Nizetic D, Murray A
(
2019
)
.
Chapter 3 Modeling Down syndrome in cells: From stem cells to organoids
.
Preclinical Research in Down Syndrome: Insights for Pathophysiology and Treatments
,
vol.
251
,
Elsevier
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 & 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
,
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
.
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
.
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 M-C, 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
.
Groet J, Ives JH, South AP, Baptista PR, Jones TA, Yaspo M-L, Lehrach H, Potier M-C 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, 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 ofRIEG, but Also by Chromosome Breaks ≈90 kb Upstream of This Gene
.
Genomics
vol.
47
,
(
3
)
409
-
413
.
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
.
Katsanis N, Ives JH, Groet J, Nizetic D, Fisher EMC
(
1998
)
.
Localisation of receptor interacting protein140 (RIP140) within 100kb of D21S13 on 21q11, a gene-poor region of the human genome
.
Human Genetics
vol.
102
,
(
2
)
221
-
223
.
Flomen RH, Gorman PA, Vatcheva R, Groet J, Barisić I, Ligutić I, Sheer D, Nizetić 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
)
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
.