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Publications:  Prof Dean Nizetic

Botté A, Lainé J, Xicota L, Heiligenstein X, Fontaine G, Kasri A, Rivals I, Goh P et al.(2020). Ultrastructural and dynamic studies of the endosomal compartment in Down syndrome. Acta Neuropathol Commun vol. 8, (1)
Hannan S, Affandi AHB, Minere M, Jones C, Goh P, Warnes G, Popp B, Trollmann R et al.(2020). Differential co-assembly of α1-GABAARs associated with epileptic encephalopathy. The Journal of Neuroscience
Nguyen L, Ong W, Wang K, Wang M, Nizetic D, Chew S(2020). Effects of miR-219/miR-338 on microglia and astrocyte behaviors and astrocyte-oligodendrocyte precursor cell interactions. Neural Regeneration Research vol. 15, (4) 739-747.
Startin CM, D'Souza H, Ball G, Hamburg S, Hithersay R, Hughes KMO, Massand E, Karmiloff-Smith A et al.(2020). Health comorbidities and cognitive abilities across the lifespan in Down syndrome. J Neurodev Disord vol. 12, (1)
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,
Startin CM, Ashton NJ, Hamburg S, Hithersay R, Wiseman FK, Mok KY, Hardy J, Lleó A et al.(2019). Plasma biomarkers for amyloid, tau, and cytokines in Down syndrome and sporadic Alzheimer's disease. Alzheimers Res Ther vol. 11, (1)
Startin CM, Hamburg S, Hithersay R, Al-Janabi T, Mok KY, Hardy J, LonDownS Consortium, Strydom A(2019). Cognitive markers of preclinical and prodromal Alzheimer's disease in Down syndrome. Alzheimers Dement vol. 15, (2) 245-257.
Startin CM, Lowe B, Hamburg S, Hithersay R, Strydom A, Fisher E, Nizetic D, Hardy J et al.(2019). Validating the cognitive scale for down syndrome (CS-DS) to detect longitudinal cognitive decline in adults with down syndrome. Frontiers in Psychiatry vol. 10, (APR)
Hithersay R, Startin CM, Hamburg S, Mok KY, Hardy J, Fisher EMC, Tybulewicz VLJ, Nizetic D et al.(2018). Association of Dementia With Mortality Among Adults With Down Syndrome Older Than 35 Years. JAMA Neurol
Hee YT, Yan J, Nizetic D, Chng WJ(2018). LEE011 and ruxolitinib: A synergistic drug combination for natural killer/T-cell lymphoma (NKTCL). Oncotarget vol. 9, (61) 31832-31841.
Faundez V, De Toma I, Bardoni B, Bartesaghi R, Nizetic D, de la Torre R, Cohen Kadosh R, Herault Y et al.(2018). Translating molecular advances in Down syndrome and Fragile X syndrome into therapies. Eur Neuropsychopharmacol vol. 28, (6) 675-690.
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)
Startin CM, Hamburg S, Strydom A, LonDownS Consortium(2018). Comparison of Receptive Verbal Abilities Assessed Using the KBIT-2 and BPVS3 in Adults With Down Syndrome. Front Psychol vol. 9,
Wiseman FK, Pulford LJ, Barkus C, Liao F, Portelius E, Webb R, Chávez-Gutiérrez L, Cleverley K et al.(2018). Trisomy of human chromosome 21 enhances amyloid-b deposition independently of an extra copy of APP. Brain vol. 141, (8) 2457-2474.
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,
Nizetic D, Chen CL, Hong W, Koo EH(2015). Inter-dependent mechanisms behind cognitive dysfunction, vascular biology and Alzheimer’s dementia in down syndrome: Multi-faceted roles of APP. Frontiers in Behavioral Neuroscience vol. 9, (DEC)
Dekker AD, Strydom A, Coppus AMW, Nizetic D, Vermeiren Y, Naudé PJW, Van Dam D, Potier M-C et al.(2015). Behavioural and psychological symptoms of dementia in Down syndrome: Early indicators of clinical Alzheimer's disease?. Cortex vol. 73, 36-61.
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.
Wiseman FK, Al-Janabi T, Hardy J, Karmiloff-Smith A, Nizetic D, Tybulewicz VLJ, Fisher EMC, Strydom A(2015). A genetic cause of Alzheimer disease: Mechanistic insights from Down syndrome. Nature Reviews Neuroscience vol. 16, (9) 564-574.
Sailani MR, Santoni FA, Letourneau A, Borel C, Makrythanasis P, Hibaoui Y, Popadin K, Bonilla X et al.(2015). DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins. PLoS One vol. 10, (8)
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.
Nižeti¿ 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.
Castleton AZ, Brazma D, Howard-Reeves J, Chanalaris A, Glanville J, Nizetic D, Chakraverty R, Nacheva EP(2010). Genome gains at chromosome 21q21/22 segment leads to co-amplification of Down Syndrome Critical Regions and known oncogenes in a case of donor cell-derived acute myeloid leukaemia following allogeneic sex mismatched umbilical cord blood transplantation for chronic myeloid leukaemia. Br J Haematol vol. 151, (3) 285-288.
Rougemont AL, Makrythanasis P, Finci V, Billieux MH, Epiney M, McKee TA, Nizetic D, Fokstuen S(2010). Myeloid Proliferation Without GATA1 Mutations in a Fetus with Down Syndrome Presenting In Utero as a Pericardial Effusion. PEDIATR DEVEL PATHOL vol. 13, (5) 423-426.
Reynolds LE, Watson AR, Baker M, Jones TA, D'Amico G, Robinson SD, Joffre C, Garrido-Urbani S et al.(2010). Tumour angiogenesis is reduced in the Tc1 mouse model of Down's syndrome (Corrigendum). NATURE vol. 466, (7304)
Reynolds LE, Watson AR, Baker M, Jones TA, D'Amico G, Robinson SD, Joffre C, Garrido-Urbani S et al.(2010). Tumour angiogenesis is reduced in the Tc1 mouse model of Down's syndrome. Nature vol. 465, (7299) 813-817.
Alford KA, Slender A, Vanes L, Li Z, Fisher EMC, Nizetic D, Orkin SH, Roberts I et al.(2010). Perturbed hematopoiesis in the Tc1 mouse model of Down syndrome. BLOOD vol. 115, (14) 2928-2937.
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.
NIZETIC D, Groet J(2006). Down syndrome: neural and natural killer molecules out of place in myeloid cells?. Haematologica vol. 91, (11) 1442-1442.
O'Doherty A, Ruf S, Mulligan C, Hildreth V, Errington ML, Cooke S, Sesay A, Modino S et al.(2005). An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes. SCIENCE vol. 309, (5743) 2033-2037.
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.
Huber M, Siegenthaler G, Mirancea N, Marenholz I, NIZETIC D, Breitkreutz D, Mischke D, Hohl D(2005). Isolation and characterization of human repetin, a member of the fused gene family of the epidermal differentiation complex. Journal of Investigative Dermatology vol. 124, 998-1007.
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.
SOUTH AP, Serra M, Meza-Zepeda LA, Mischke D, Forus A, Lygren B, Dahlberg AB, Godager LH et al.(2002). Positional cloning identifies a novel cyclophilin as a candidate amplified oncogene in 1q21. Oncogene vol. 21, 2261-2269.
Leonardo A, Meza-Zepeda LA, Forus A, Lygren B, Dahlberg AB, Godager LH, South AP, Marenholz I et al.(2002). Positional cloning identifies a novel cyclophilin as a candidate amplified oncogene in lq21. Oncogene vol. 21, 2261-2269.
Nizetic D(2001). Functional genomics of the Down syndrome. CROAT MED J vol. 42, (4) 421-427.
Meza-Zepeda LA, Berner JM, Henriksen J, South AP, Pedeutour F, Dahlberg AB, Godager LH, Nizetic D et al.(2001). Ectopic sequences from truncated HMGIC in liposarcomas are derived from various amplified chromosomal regions. GENE CHROMOSOME CANC vol. 31, (3) 264-273.
Ma ZG, Morris SW, Valentine V, Li M, Herbrick JA, Cui XL, Bouman D, Li Y et al.(2001). Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. NAT GENET vol. 28, (3) 220-221.
Cabral A, Voskamp P, Cleton-Jansen AM, South A, Nizetic D, Backendorf C(2001). Structural organization and regulation of the small proline-rich family of cornified envelope precursors suggest a role in adaptive barrier function. J BIOL CHEM vol. 276, (22) 19231-19237.
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.
Forus A, Meza-Zepeda LA, Dahlberg AB, Godager L, South A, Nizetic D, Marenholz I, Lioumi M et al.(2001). Cloning and characterisation of three novel candidate genes from the 1q21 amplicon. CYTOGENET CELL GENET vol. 92, (1-2) 45-45.
NIZETIC D(2001). Functional Genomics of the Down Syndrome. Review. Croatian Medical Journal vol. 42, 420-426.
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.
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