Prof Dean Nizetic

Dean Nizetic

Professor of Cell and Mol Biology

Blizard Institute
QMUL, FMD
www.qmul.ac.uk/blizard/all-staff/profiles/dean-nieti.html

Research

Alzheimer's Disease, Ageing, iPSCs, organoids, drug screening, Down Syndrome

Neuronal Models

Interests

We currently have one of the best in vitro models for Alzheimer's disease pathogenesis and drug screening. It is the first ever human in vitro model that reproduces an amyloid-driven-tauopathy, rescued by drugs that block amyloid. Please see papers in NatComm2026, NatMed2026, eBiomedicine2023, MolPsych(2024 and 2021).

Publications

solid heart iconPublications of specific relevance to Predictive in vitro Models

2026

Abnormal neuronal and synaptic morphology in Down syndrome brains reproduces in human isogenic cellular models
Plećaš A, Gough G, Grčević D, Jackowiak H, Skieresz-Szewczyk K, Horaček M, Šimunić I, Krsnik Ž et al.
Cell Death & Disease, Springer Nature 
10-06-2026
Promoting Research Excellence in Down Syndrome: Proceedings of the 5th International Conference of the Trisomy 21 Research Society
Di Domenico F, Perluigi M, Tramutola A, Bacalini MG, Balduino Victorino D, Barroeta I, Bartesaghi R, Carfi A et al.
Neuromolecular Medicine, Springer Nature vol. 28 (1) 
06-06-2026
Synaptic and intrinsic membrane defects disrupt early neural network dynamics in Down syndrome
Hannan SB, Alić I, Murray A, Kwon J, Mortensen M, Kang HJ, Plećaš A, Goh PA et al.
Nature Communications, Springer Nature vol. 17 (1) 
22-01-2026
Single-cell atlas of the developing Down syndrome brain cortex
Lattke M, Tan WL, Sukumaran SK, Utami KH, Sintes M, Sakthivel S, Tan J, Lim A et al.
Nature Medicine, Springer Nature vol. 32 (3), 1061-1072.  
16-01-2026

2024

Total cell N-glycosylation is altered during differentiation of induced pluripotent stem cells to neural stem cells and is disturbed by trisomy 21
Cindrić A, Vučković F, Murray A, Klarić TS, Alić I, Krištić J, Nižetić D, Lauc G
Bba Advances, Elsevier vol. 7 
29-12-2024
It’s good to know what to BACE the specificity of your inhibitors on
Murray A, Muñiz-García A, Alić I, Nižetić D
Journal of Clinical Investigation, American Society For Clinical Investigation vol. 134 (16) 
15-08-2024
Presynaptic hyperexcitability reversed by positive allosteric modulation of a GABABR epilepsy variant
Minere M, Mortensen M, Warnes G, Nizetic D, Smart TG
Brain, Oxford University Press (Oup) vol. 148 (2), 533-548.  
19-07-2024

2023

Cerebral organoids with chromosome 21 trisomy secrete Alzheimer’s disease-related soluble aggregates detectable by single-molecule-fluorescence and super-resolution microscopy
Fertan E, Böken D, Murray A, Danial JSH, Lam JYL, Wu Y, Goh PA, Alić I et al.
Molecular Psychiatry, Springer Nature vol. 29 (2), 369-386.  
15-12-2023
Dose imbalance of DYRK1A kinase causes systemic progeroid status in Down syndrome by increasing the un-repaired DNA damage and reducing LaminB1 levels
Murray A, Gough G, Cindrić A, Vučković F, Koschut D, Borelli V, Petrović DJ, Bekavac A et al.
Ebiomedicine, Elsevier vol. 94 
12-07-2023

2022

BACE2: A Promising Neuroprotective Candidate for Alzheimer’s Disease
Yeap YJ, Kandiah N, Nizetic D
Journal of Alzheimer’S Disease, Sage Publications vol. 94 (s1), s159-s171.  
26-11-2022

2021

Mechanical Stress Induces a Transient Suppression of Cytokine Secretion in Astrocytes Assessed at the Single‐Cell Level with a High‐Throughput Microfluidic Chip
Shao X, Wang C, Wang C, Han L, Han Y
Advanced Healthcare Materials, Wiley vol. 10 (21) 
22-09-2021
Correction: Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain
Alić I, Goh PA, Murray A, Portelius E, Gkanatsiou E, Gough G, Mok KY, Koschut D et al.
Molecular Psychiatry, Springer Nature vol. 26 (10), 5789-5789.  
16-07-2021
Publisher Correction: Genetic dissection of down syndrome‑associated alterations in APP/amyloid‑β biology using mouse models
Tosh JL, Rhymes ER, Mumford P, Whittaker HT, Pulford LJ, Noy SJ, Cleverley K, Walker MC et al.
Scientific Reports, Springer Nature vol. 11 (1) 
16-07-2021
Aligning cognitive studies in mouse models and human infants/toddlers: The case of Down Syndrome
D'Souza H, Brady D, Wiseman FK, Good MA, Thomas MSC, Strydom A, Fisher E, Nizetic D et al.
In Taking Development Seriously a Festschrift For Annette Karmiloff Smith Neuroconstructivism and The Multi Disciplinary Approach T 213-238.  
17-05-2021
Genetic dissection of down syndrome-associated alterations in APP/amyloid-β biology using mouse models
Tosh JL, Rhymes ER, Mumford P, Whittaker HT, Pulford LJ, Noy SJ, Cleverley K, Wykes RC
Scientific Reports, Springer Nature vol. 11 (1) 
11-03-2021
Immunoglobulin G glycosylation in people with down syndrome
Cindric A, Vuckovic F, Koschut D, Thomas MSC, Strydom A, Lauc G, Kristic J
 
01-01-2021

2020

Alzheimer‐like pathology in trisomy 21 cerebral organoids amenable to pharmacological inhibition reveals BACE2 as a gene‐dose‐sensitive AD‐suppressor in human brain
Alic I, Goh P, Murray A, Portelius E, Gough G, Gkanatsiou E, Wallon D, Rovelet‐Lecrux A et al.
Alzheimer's & Dementia, Wiley vol. 16 (S2) 
01-12-2020
RAS-protein activation but not mutation status is an outcome predictor and unifying therapeutic target for high-risk acute lymphoblastic leukemia
Koschut D, Ray D, Li Z, Giarin E, Groet J, Alić I, Kham SK-Y, Chng WJ et al.
Oncogene, Springer Nature vol. 40 (4), 746-762.  
27-11-2020
Optimal age and outcome measures for Alzheimer's disease prevention trials in people with Down syndrome
Hithersay R, Baksh RA, Startin CM, Hamburg S, Consortium TL, Strydom A
Alzheimer's & Dementia, Wiley vol. 17 (4), 595-604.  
23-11-2020
Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain
Alić I, Goh PA, Murray A, Portelius E, Gkanatsiou E, Gough G, Mok KY, Koschut D et al.
Molecular Psychiatry, Springer Nature vol. 26 (10), 5766-5788.  
10-07-2020
Localized delivery of CRISPR/dCas9 via layer-by-layer self-assembling peptide coating on nanofibers for neural tissue engineering
Zhang K, Chooi WH, Liu S, Chin JS, Murray A, Nizetic D, Cheng D, Chew SY
Biomaterials, Elsevier vol. 256 
08-07-2020
Ultrastructural and dynamic studies of the endosomal compartment in Down syndrome
Botté A, Lainé J, Xicota L, Heiligenstein X, Fontaine G, Kasri A, Rivals I, Goh P et al.
Acta Neuropathologica Communications, Springer Nature vol. 8 (1) 
24-06-2020
Differential Coassembly of α1-GABAARs Associated with Epileptic Encephalopathy
Hannan S, Affandi AHB, Minere M, Jones C, Goh P, Warnes G, Nizetic D, Smart TG
Journal of Neuroscience, Society For Neuroscience vol. 40 (29), 5518-5530.  
08-06-2020
Effects of miR-219/miR-338 on microglia and astrocyte behaviors and astrocyte-oligodendrocyte precursor cell interactions
Nguyen L, Ong W, Wang K, Nizetic D
Neural Regeneration Research vol. 15 (4), 739-747.  
01-04-2020
Health comorbidities and cognitive abilities across the lifespan in Down syndrome
Startin CM, D’Souza H, Ball G, Hithersay R, Hughes KMO, Massand E, Karmiloff-Smith A
Journal of Neurodevelopmental Disorders, Springer Nature vol. 12 (1) 
23-01-2020

2019

Chapter 3 Modeling Down syndrome in cells: From stem cells to organoids
Gough G, O'Brien NL, Alic I, Goh PA, Yeap YJ, Groet J, Nizetic D, Murray A
In Preclinical Research in Down Syndrome: Insights For Pathophysiology and Treatments, Elsevier 55-90.  
20-11-2019
Validating the Cognitive Scale for Down Syndrome (CS-DS) to Detect Longitudinal Cognitive Decline in Adults With Down Syndrome
Startin CM, Lowe B, Hamburg S, Hithersay R, Strydom A, Strydom A, Fisher E, Hardy J
Frontiers in Psychiatry, Frontiers vol. 10 
16-04-2019
Plasma biomarkers for amyloid, tau, and cytokines in Down syndrome and sporadic Alzheimer’s disease
Startin CM, Ashton NJ, Hamburg S, Hithersay R, Wiseman FK, Mok KY, Lovestone S, Hye A
Alzheimer's Research & Therapy, Springer Nature vol. 11 (1) 
21-03-2019
Comparison of Receptive Verbal Abilities Assessed Using the KBIT-2 and BPVS3 in Adults With Down Syndrome
Startin CM, Hamburg S, Strydom A
Frontiers in Psychology, Frontiers vol. 9 
17-01-2019
Correction: Scaffold mediated gene knockdown for neuronal differentiation of human neural progenitor cells
Chooi WH, Ong W, Murray A, Lin J, Nizetic D, Chew SY
Biomaterials Science, Royal Society of Chemistry (Rsc) vol. 7 (6), 2623-2623.  
01-01-2019

2018

Cognitive markers of preclinical and prodromal Alzheimer's disease in Down syndrome
Startin CM, Hamburg S, Hithersay R, Al-Janabi T, Mok KY, Hardy J, Strydom A, Fisher E et al.
Alzheimer's & Dementia, Wiley vol. 15 (2), 245-257.  
28-11-2018
Association of Dementia With Mortality Among Adults With Down Syndrome Older Than 35 Years.
Hithersay R, Startin CM, Hamburg S, Mok KY, Hardy J, Fisher EMC
Jama Neurol 
19-11-2018
LEE011 and ruxolitinib: a synergistic drug combination for natural killer/T-cell lymphoma (NKTCL)
Hee YT, Yan J, Chng W-J
Oncotarget, Impact Journals vol. 9 (61), 31832-31841.  
07-08-2018
Trisomy of human chromosome 21 enhances amyloid-β deposition independently of an extra copy of APP
Wiseman FK, Pulford LJ, Barkus C, Liao F, Portelius E, Chávez-Gutiérrez L, Cleverley K, Noy S et al.
Brain, Oxford University Press (Oup) vol. 141 (8), 2457-2474.  
26-06-2018
Translating molecular advances in Down syndrome and Fragile X syndrome into therapies
Faundez V, De Toma I, Bardoni B, Bartesaghi R, Nizetic D, de la Torre R, Kadosh RC, Dierssen M et al.
European Neuropsychopharmacology, Elsevier vol. 28 (6), 675-690.  
01-06-2018
Neurofilament light as a blood biomarker for neurodegeneration in Down syndrome
Strydom A, Heslegrave A, Startin CM, Mok KY, Groet J, Nizetic D
Alzheimer's Research & Therapy, Springer Nature vol. 10 (1) 
10-04-2018
Scaffold mediated gene knockdown for neuronal differentiation of human neural progenitor cells
Chooi WH, Ong W, Murray A, Lin J, Nizetic D, Chew SY
Biomaterials Science, Royal Society of Chemistry (Rsc) vol. 6 (11), 3019-3029.  
01-01-2018

2017

[P3–168]: GENETIC DISSECTION OF SEVERITY AND ONSET MODULATORS FOR ALZHEIMER's PATHOLOGY IN DOWN SYNDROME USING CELLULAR SYSTEMS
Murray A, Goh P, Yeap Y, Startin C, Hamburg S, Hithersay R, d'Souza H, Mok K et al.
Alzheimer's & Dementia, Wiley vol. 13 (7S_Part_20), p998-p999.  
01-07-2017
[P2–141]: TRISOMY 21 CAUSES A DEFICIT IN LYSOSOMAL CATHEPSINS AND ALTERS APP/Aβ PROCESSING, INDEPENDENTLY OF AN EXTRA COPY OF APP
Wiseman FK, Pulford LJ, Barkus C, Liao F, Portelius E, Webb R, Chavez‐Gutierrez L, Cleverley K et al.
Alzheimer's & Dementia, Wiley vol. 13 (7S_Part_13), p661-p662.  
01-07-2017

2016

Intracerebral haemorrhage in Down syndrome: protected or predisposed?
Buss L, Fisher E, Hardy J, Groet J, Strydom A
F1000research, F1000research vol. 5 
12-05-2016
The importance of understanding individual differences in Down syndrome
Karmiloff-Smith A, Al-Janabi T, D'Souza H, Groet J, Mok K, Startin C, Fisher E, Nizetic D et al.
F1000research, F1000research vol. 5 
23-03-2016

2015

Inter-Dependent Mechanisms Behind Cognitive Dysfunction, Vascular Biology and Alzheimer's Dementia in Down Syndrome: Multi-Faceted Roles of APP
Nizetic D, Chen CL, Koo EH
Frontiers in Behavioral Neuroscience, Frontiers vol. 9 
01-12-2015
DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins
Sailani MR, Santoni FA, Letourneau A, Borel C, Makrythanasis P, Popadin K, Bonilla X, Guipponi M et al.
Plos One, Public Library of Science (Plos) vol. 10 (8) 
28-08-2015
Behavioural and psychological symptoms of dementia in Down syndrome: Early indicators of clinical Alzheimer's disease?
Dekker AD, Strydom A, Coppus AMW, Vermeiren Y, Van Dam D, Potier M-C, De Deyn PP
Cortex, Elsevier vol. 73, 36-61.  
13-08-2015
A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome
Wiseman FK, Al-Janabi T, Karmiloff-Smith A, Nizetic D, Tybulewicz VLJ
Nature Reviews Neuroscience, Springer Nature vol. 16 (9), 564-574.  
05-08-2015
Brief Report: Isogenic Induced Pluripotent Stem Cell Lines From an Adult With Mosaic Down Syndrome Model Accelerated Neuronal Ageing and Neurodegeneration
Murray A, Letourneau A, Canzonetta C, Stathaki E, Gimelli S, Sloan‐Bena F, Abrehart R, Goh P et al.
Stem Cells, Oxford University Press (Oup) vol. 33 (6), 2077-2084.  
21-05-2015
MODELLING NEURAL PATHOLOGY AND DEMENTIA IN DOWN SYNDROME USING INDUCED PLURIPOTENT STEM CELLS
Goh P, Murray A, Rovelet-Lecrux A, Wallon D, Karmiloff-Smith A, Hardy J, Strydom A, Groet J et al.
Journal of Intellectual Disability Research vol. 59 (9), 790-790.  
01-01-2015

2014

Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations.
Nikolaev SI, Garieri M, Santoni F, Falconnet E, Ribaux P, Guipponi M, Murray A, Groet J et al.
Nat Commun vol. 5 
08-08-2014

2013

Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome
Nikolaev SI, Santoni F, Vannier A, Falconnet E, Giarin E, Groet J, Nizetic D
Blood, The American Society of Hematology vol. 122 (4), 554-561.  
01-01-2013

2012

Tumorigenesis in Down's syndrome: big lessons from a small chromosome.
Nižetić D
Nat Rev Cancer vol. 12 (10), 721-732.  
01-10-2012
Amplified segment in the 'Down syndrome critical region' on HSA21 shared between Down syndrome and euploid AML-M0 excludes RUNX1, ERG and ETS2.
Canzonetta C, Hoischen A, Giarin E, Basso G, Veltman JA
Br J Haematol vol. 157 (2), 197-200.  
01-04-2012

2010

Trisomic dose of several chromosome 21 genes perturbs haematopoietic stem and progenitor cell differentiation in Down's syndrome.
De Vita S, Canzonetta C, Mulligan C, Delom F, Groet J, Dagna-Bricarelli F, Veltman J, Tybulewicz VLJ
Oncogene vol. 29 (46), 6102-6114.  
18-11-2010
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.
Castleton AZ, Brazma D, Howard-Reeves J, Chanalaris A, Glanville J, Nizetic D
Br J Haematol vol. 151 (3), 285-288.  
01-11-2010
Myeloid Proliferation Without GATA1 Mutations in a Fetus with Down Syndrome Presenting In Utero as a Pericardial Effusion
Rougemont AL, Makrythanasis P, Finci V, Billieux MH, Epiney M, McKee TA
Pediatr Devel Pathol vol. 13 (5), 423-426.  
01-09-2010
Erratum: Tumour angiogenesis is reduced in the Tc1 mouse model of Down’s syndrome
Reynolds LE, Watson AR, Baker M, Jones TA, D’Amico G, Robinson SD, Joffre C, Garrido-Urbani S et al.
Nature, Springer Nature vol. 466 (7304), 398-398.  
01-07-2010
Tumour angiogenesis is reduced in the Tc1 mouse model of Down's syndrome.
Reynolds LE, Watson AR, Baker M, Jones TA, D'Amico G, Robinson SD, Joffre C, Garrido-Urbani S et al.
Nature vol. 465 (7299), 813-817.  
10-06-2010
Perturbed hematopoiesis in the Tc1 mouse model of Down syndrome
Alford KA, Slender A, Vanes L, Li Z, Fisher EMC, Orkin SH, Tybulewicz VLJ
Blood vol. 115 (14), 2928-2937.  
08-04-2010

2009

Donor Derived Acute Myeloid Leukaemia Following Allogeneic Cord Blood Transplantation: A Potential Role for RUNX1 and Down Syndrome Critical Region (DSCR) Genes.
Castleton A, Chanalaris A, Howard-Reeves J, Brazma D, Glanville J, Nizetic D
Blood, American Society of Hematology vol. 114 (22) 
20-11-2009
Transchromosomic cell model of Down syndrome shows aberrant migration, adhesion and proteome response to extracellular matrix.
Delom F, Burt E, Hoischen A, Veltman J, Cotter FE
Proteome Sci vol. 7 
28-08-2009
Quantitative proteomics characterization of a mouse embryonic stem cell model of Down syndrome.
Wang Y, Mulligan C, Denyer G, Delom F, Dagna-Bricarelli F, Fisher EMC
Mol Cell Proteomics vol. 8 (4), 585-595.  
01-04-2009

2008

Megakaryocyte hyperproliferation without GATA1 mutation in foetal liver of a case of Down syndrome with hydrops foetalis
De Vita S, Devoy A, Groet J, Kruslin B, Kuzmic-Prusac I
Brit J Haematol vol. 143 (2), 300-303.  
01-10-2008
DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome
Canzonetta C, Mulligan C, Deutsch S, Ruf S, O'Doherty A, Lyle R, Borel C, Lin-Marq N et al.
Am J Hum Genet vol. 83 (3), 388-400.  
12-09-2008

2007

An additional human chromosome 21 causes suppression of neural fate of pluripotent mouse embryonic stem cells in a teratoma model.
Mensah A, Mulligan C, Linehan J, Ruf S, O'Doherty A, Grygalewicz B, Shipley J, GROET J et al.
Bmc Dev Biol vol. 7 
01-11-2007
Loss-of-function JAK3 mutations in TMD and AMKL of Down Syndrome
De Vita S, Mulligan C, Dagna-Bricarelli F, Spinelli M, Basso G, GROET J
Br J Haematol. vol. 137, 337-341.  
01-05-2007

2006

Down syndrome: neural and natural killer molecules out of place in myeloid cells?
NIZETIC D, Groet J
Haematologica vol. 91 (11), 1442-1442.  
01-11-2006

2005

An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes
O'Doherty A, Ruf S, Mulligan C, Hildreth V, Errington ML, Cooke S, Sesay A, Modino S et al.
Science vol. 309 (5743), 2033-2037.  
23-09-2005
Independent clones at separable stages of differentiation, bearing different GATA1 mutations, in the same TMD patient with Down syndrome.
GROET J, Mulligan C, Spinelli M, Serra A, McElwaine S, Saglio G, Basso G
Blood vol. 106, 1887-1888.  
01-09-2005
Isolation and characterization of human repetin, a member of the fused gene family of the epidermal differentiation complex
Huber M, Siegenthaler G, Mirancea N, Marenholz I, Breitkreutz D
Journal of Investigative Dermatology vol. 124, 998-1007.  
01-01-2005

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.
McElwaine S, Mulligan C, Groet J, Spinelli M, Rinaldi A, Denyer G, Cavani S, Baldo C et al.
Br J Haematol vol. 125 (6), 729-742.  
01-06-2004

2003

Acquired mutations in GATA1 in neonates with Down's syndrome with transient myeloid disorder.
Groet J, McElwaine S, Spinelli M, Rinaldi A, Burtscher I, Mulligan C, Mensah A, Cavani S et al.
Lancet vol. 361 (9369), 1617-1620.  
10-05-2003

2002

Positional cloning identifies a novel cyclophilin as a candidate amplified oncogene in 1q21
SOUTH AP, Serra M, Meza-Zepeda LA, Mischke D, Forus A, Lygren B, Dahlberg AB, Godager LH et al.
Oncogene vol. 21, 2261-2269.  
01-01-2002
Positional cloning identifies a novel cyclophilin as a candidate amplified oncogene in lq21
Leonardo A, Meza-Zepeda LA, Forus A, Lygren B, Dahlberg AB, South AP, Lioumi M, Florenes VA et al.
Oncogene vol. 21, 2261-2269.  
01-01-2002

2001

Functional genomics of the Down syndrome
Nizetic D
Croat Med J vol. 42 (4), 421-427.  
01-08-2001
Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia
Ma ZG, Morris SW, Valentine V, Li M, Herbrick JA, Cui XL, Bouman D, Li Y et al.
Nat Genet vol. 28 (3), 220-221.  
01-07-2001
Ectopic sequences from truncated HMGIC in liposarcomas are derived from various amplified chromosomal regions
Meza-Zepeda LA, Berner JM, Henriksen J, Pedeutour F, Dahlberg AB, Myklebost O
Gene Chromosome Canc vol. 31 (3), 264-273.  
01-07-2001
Structural organization and regulation of the small proline-rich family of cornified envelope precursors suggest a role in adaptive barrier function
Cabral A, Voskamp P, Cleton-Jansen AM, South A
J Biol Chem vol. 276 (22), 19231-19237.  
01-06-2001
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
Groet J, Chen L, Blechschmidt K, Rosenthal A
Cytogenet Cell Genet vol. 92 (1-2), 16-16.  
01-01-2001
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
Groet J, Ives JH, Jones TA, Chen L, Danton M, Flomen RH, Sheer D, Hrascan R et al.
Cytogenet Cell Genet vol. 92 (1-2), 16-16.  
01-01-2001
Functional Genomics of the Down Syndrome. Review.
NIZETIC D
Croatian Medical Journal vol. 42, 420-426.  
01-01-2001
Cloning and characterisation of three novel candidate genes from the 1q21 amplicon
Forus A, Meza-Zepeda LA, Dahlberg AB, Godager L, South A, Nizetic D, Marenholz I, Maelandsmo GM et al.
Cytogenet Cell Genet vol. 92 (1-2), 45-45.  
01-01-2001

2000

The homeobox gene MEIS1 is amplified in IMR-32 and highly expressed in other neuroblastoma cell lines
Jones TA, Flomen RH, Senger G, Nižetić D, Sheer D
European Journal of Cancer, Elsevier vol. 36 (18), 2368-2374.  
01-12-2000
Erratum: The DNA sequence of human chromosome 21: The chromosome 21 mapping and sequencing consortium (Nature (2000) 405 (311-319))
Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS, Toyoda A, Ishll K et al.
Nature vol. 407 (6800) 
07-09-2000
The DNA sequence of human chromosome 21
Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park H-S, Toyoda A, Ishii K et al.
Nature, Springer Nature vol. 405 (6784), 311-319.  
01-05-2000
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
Groet J, Ives JH, Jones TA, Danton M, Flomen RH, Sheer D, Hrašćan R, Pavelić K et al.
Genes Chromosomes and Cancer, Wiley vol. 27 (2), 153-161.  
01-02-2000

1999

A High-Resolution Physical Map of Human Chromosome 21p Using Yeast Artificial Chromosomes
Wang SY, Cruts M, Del-Favero J, Zhang Y, Tissir F, Potier MC, Patterson D, Nizetic D et al.
Genome Research, Cold Spring Harbor Laboratory vol. 9 (11), 1059-1073.  
01-11-1999
Human Epidermal Differentiation Complex in a Single 2.5 Mbp Long Continuum of Overlapping DNA Cloned in Bacteria Integrating Physical and Transcript Maps
South AP, Ives JH, James CH, Nizetic D, Cabral A, Mirza G, Mischke D
Journal of Investigative Dermatology, Elsevier vol. 112 (6), 910-918.  
01-06-1999

1998

Cytogenetic and molecular study of 32 Down syndrome families: potential leukaemia predisposing role of the most proximal segment of chromosome 21q
Cavani S, Perfumo C, Argusti A, Pierluigi M, Perroni L, Schmiegelow K, Petersen MB, Cotter FE
British Journal of Haematology, Wiley vol. 103 (1), 213-216.  
01-10-1998
Increased levels of a chromosome 21‐encoded tumour invasion and metastasis factor (TIAM1) mRNA in bone marrow of down syndrome children during the acute phase of AML(M7)
Ives JH, Dagna‐Bricarelli F, Basso G, Jee R, Cotter F
Genes Chromosomes and Cancer, Wiley vol. 23 (1), 61-66.  
01-09-1998
Two Sequence-Ready Contigs Spanning the Two Copies of a 200-kb Duplication on Human 21q: Partial Sequence and Polymorphisms
Potier M-C, Dutriaux A, Orti R, Groet J, Gibelin N, Karadima G, Lutfalla G, Lynn A et al.
Genomics, Elsevier vol. 51 (3), 417-426.  
01-08-1998
Physical Map of Human 6p21.2–6p21.3: Region Flanking the Centromeric End of the Major Histocompatibility Complex
Tripodis N, Mason R, Humphray SJ, Davies AF, Herberg JA, Trowsdale J, Nizetic D
Genome Research, Cold Spring Harbor Laboratory vol. 8 (6), 631-643.  
01-06-1998
High-Resolution YAC Fragmentation Map of 1q21
Lioumi M, Nizetic D, Ragoussis J
Genomics, Elsevier vol. 49 (2), 200-208.  
01-04-1998
Bacterial Contig Map of the 21q11 Region Associated with Alzheimer’s Disease and Abnormal Myelopoiesis in Down Syndrome
Groet J, Ives JH, South AP, Baptista PR, Jones TA, Yaspo M-L, Lehrach H, Potier M-C et al.
Genome Research, Cold Spring Harbor Laboratory vol. 8 (4), 385-398.  
01-04-1998
Identification and characterization of a new human cDNA from chromosome 21q22.3 encoding a basic nuclear protein
Egeo A, Mazzocco M, Arrigo P, Oliva R, Nizetic D, Scartezzini P
Human Genetics, Springer Nature vol. 102 (3), 289-293.  
01-03-1998
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
Flomen RH, Vatcheva R, Gorman PA, Baptista PR, Barišić I
Genomics, Elsevier vol. 47 (3), 409-413.  
01-02-1998
High Resolution Physical Mapping and Identification of Transcribed Sequences in the Down Syndrome Region-2
Vidal-Taboada JM, Bergoñón S, Sánchez M, López-Acedo C, Groet J, Nizetic D, Egeo A
Biochemical and Biophysical Research Communications, Elsevier vol. 243 (2), 572-578.  
01-02-1998
Localisation of receptor interacting protein140 (RIP140) within 100kb of D21S13 on 21q11, a gene-poor region of the human genome
Katsanis N, Ives JH, Groet J, Nizetic D
Human Genetics, Springer Nature vol. 102 (2), 221-223.  
01-02-1998

1997

High-Resolution Physical Map and Identification of Potentially Regulatory Sequences of the Human SH3BGR Located in the Down Syndrome Chromosomal Region
Vidal-Taboada JM, Bergoñon S, Egeo A, Nizetic D
Biochemical and Biophysical Research Communications, Elsevier vol. 241 (2), 321-326.  
01-12-1997
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.
Flomen RH, Gorman PA, Vatcheva R, Groet J, Barisić I, Ligutić I, Sheer D, Nizetić D
Journal of Medical Genetics, Bmj vol. 34 (3) 
01-03-1997
Cloning a new human gene from chromosome 21q22.3 encoding a glutamic acid-rich protein expressed in heart and skeletal muscle
Scartezzini P, Egeo A, Fumagalli P, Nizetic D, Taramelli R, Rasore-Quartino A
Human Genetics, Springer Nature vol. 99 (3), 387-392.  
01-02-1997

1996

Potential CpG-rich islands clustering around single-minded gene in Down syndrome chromosomal region
Osoegawa K, Susukida R, Okano S, Kato Y, Lehrach H
Mammalian Genome, Springer Nature vol. 7 (6), 461-463.  
01-06-1996
An Integrated Map with Cosmid/PAC Contigs of a 4-Mb Down Syndrome Critical Region
Osoegawa K, Susukida R, Okano S, Minoshima S, Shimizu N, de Jong PJ, Groet J
Genomics, Elsevier vol. 32 (3), 375-387.  
01-03-1996
Report of the Second International Workshop on Human Chromosome 1 Mapping 1995
Weith A, Brodeur GM, Bruns GA, Matise TC, Mischke D, Nizetic D, Seldin MF, van Roy N et al.
Cytogenetic and Genome Research, Karger Publishers vol. 72 (2-3), 113-154.  
01-01-1996
Physical and Transcription Map of the 6p21.2–6p21.3 Boundary Region
Tripodis N, Mason R, Davies A, Ragoussis J
Mitochondrial Dna Part A, Taylor & Francis vol. 7 (1), 53-54.  
01-01-1996
An improved method for the detection of Down's syndrome aneuploidy in uncultured amniocytes
Pierluigi M, Perfumo C, Cavani S, Lehrach H
Clinical Genetics, Wiley vol. 49 (1), 32-36.  
01-01-1996

1995

An integrated map of human chromosome 6p23.
Olavesen MG, Davies AF, Broxholme SJ, Senger G, Nizetic D
Genome Research, Cold Spring Harbor Laboratory vol. 5 (4), 342-358.  
01-11-1995
Report of the Fifth International Workshop on Human Chromosome 21 Mapping 1994
Shimizu N, Ohki M, Sakaki Y, Minoshima S, Murakami Y, Sugawara H, Antonarakis S, Van Broeckhoven C
Cytogenetic and Genome Research, Karger Publishers vol. 70 (3-4), 147-182.  
01-01-1995
Model for a transcript map of human chromosome 21: isolation of new coding sequences from exon and enriched cDNA libraries
Yaspo M-L, Gellen L, Mott R, Korn B, Poustka A
Human Molecular Genetics, Oxford University Press (Oup) vol. 4 (8), 1291-1304.  
01-01-1995

1994

Construction of cosmid libraries from flow-sorted human chromosomes 1, 6, 7, 11, 13, and 18 for reference library resources
Nizetic D, Monard S, Young B, Cotter F
Mammalian Genome, Springer Nature vol. 5 (12), 801-802.  
01-12-1994
Molecular Cloning, cDNA Sequence, and Chromosomal Localization of the Human Phosphatidylinositol 3-Kinase p110α (PIK3CA) Gene
Volinia S, Ormondroyd E, Nizetic D, Rocchi M
Genomics, Elsevier vol. 24 (3), 472-477.  
01-12-1994
Cloning and Characterization of a 135- to 500-kb Region of Homology on the Long Arm of Human Chromosome 21
Dutriaux A, Van Hul W, Nizetic D, Theophille D, Delabar JM
Genomics, Elsevier vol. 22 (2), 472-477.  
01-07-1994
Efficient identification and regional positioning of YAC and cosmid clones to human Chromosome 21 by radiation fusion hybrids
Kumlien J, Labella T, Zehetner G, Vatcheva R, Nizetic D
Mammalian Genome, Springer Nature vol. 5 (6), 365-371.  
01-06-1994
Assignment of 55 Novel Cosmids to Seven Subregions of Chromosome 13 Using Fluorescence in Situ Hybridization
Hawthorn L, Nizetic D, Lehrach H
Genomics, Elsevier vol. 21 (1), 248-250.  
01-05-1994
Molecular cloning of a novel 11q23 breakpoint associated with non-Hodgkin's lymphoma.
Meerabux JM, Cotter FE, Kearney L, Nizetic D, Gibbons B
Oncogene vol. 9 (3), 893-898.  
01-03-1994
An integrated YAC-overlap and ‘cosmid-pocket’ map of the human chromosome 21
Nižetić D, Gellen L, Hamvas RMJ, Grigorlev A, Vatcheva R, Zehetner G, Yaspo M-L, Dutriaux A et al.
Human Molecular Genetics, Oxford University Press (Oup) vol. 3 (5), 759-770.  
01-01-1994
Rapid restriction analysis of YAC clones
Hamvas RMJ, Francis F, Nizetic D, Goldsworthy ME
Nucleic Acids Research, Oxford University Press (Oup) vol. 22 (7), 1318-1319.  
01-01-1994

1993

Report of the fourth international workshop on human chromosome 21
Delabar J-M, Créau N, Sinet P-M, Ritter O, Antonarakis SE, Burmeister M, Ohki M, Petersen MB
 
01-12-1993
High resolution cosmid and P1 maps spanning the 14 Mb genome of the fission yeast S. pombe
Hoheisel JD, Maier E, Mott R, McCarthy L, Grigoriev AV, Nizetic D, Francis F
Cell, Elsevier vol. 73 (1), 109-120.  
09-04-1993

1992

Chromosomal assignment of human YAC clones by fluorescence in Situ hybridization: Use of single-yeast-colony PCR and multiple labeling
Baldini A, Ross M, Nizetic D, Lindsay EA
Genomics, Elsevier vol. 14 (1), 181-184.  
01-09-1992
Selection of a human chromosome 21 enriched YAC sub–library using a chromosome–specific composite probe
Ross MT, Nižetić D, Nguyen C, Knights C, Vatcheva R, Burden N, Douglas C, Ward DC et al.
Nature Genetics, Springer Nature vol. 1 (4), 284-290.  
01-07-1992

1991

Construction, arraying, and high-density screening of large insert libraries of human chromosomes X and 21: their potential use as reference libraries.
Nizetić D, Zehetner G, Monaco AP, Gellen L, Young BD
Proceedings of The National Academy of Sciences of The United States of America, Proceedings of The National Academy of Sciences vol. 88 (8), 3233-3237.  
15-04-1991
W (A or T) sequences as probes and primers suitable for genomic mapping and fingerprinting
Drmanac R, Nizetic D, Lennon GG
Nucleic Acids Research, Oxford University Press (Oup) vol. 19 (21), 5839-5842.  
01-01-1991
An improved bacterial colony lysis procedure enables direct DNA hybridisation using short (10, 11 bases) oligonucleotides to cosmids
Nizetic D, Drmanac R
Nucleic Acids Research, Oxford University Press (Oup) vol. 19 (1), 182-182.  
01-01-1991
Mapping irradiation hybrids to cosmid and yeast artificial chromosome libraries by direct hybridization of Alu-PCR products
Monaco AP, Lam VMS, Zehetner G, Lennon GG, Nizetic D
Nucleic Acids Research, Oxford University Press (Oup) vol. 19 (12), 3315-3318.  
01-01-1991

1990

Ordering of cosmid clones covering the Herpes Simplex virus type I (HSV-I) genome: a test case for fingerprinting by hybridisation
Carig AG, Nizetic D, Hoheisel JD, Zehetner G
Nucleic Acids Research, Oxford University Press (Oup) vol. 18 (9), 2653-2660.  
01-01-1990

1989

Labelling oligonucleotides to high specific activity (I)
Craig AG, Nizetic D
Nucleic Acids Research, Oxford University Press (Oup) vol. 17 (12), 4605-4610.  
01-01-1989
Control of partial digestion combining the enzymes dam methylase and MboI
Hoheisel JD, Lehrach H
Nucleic Acids Research, Oxford University Press (Oup) vol. 17 (23), 9571-9582.  
01-01-1989

1988

Limited polymorphism of both classes of MHC genes in four different species of the Balkan mole rat
Nižetić D, Stevanović M, Soldatović B
Immunogenetics, Springer Nature vol. 28 (2), 91-98.  
01-08-1988

1987

Evolutionary expansion of Mhc class I loci in the mole-rat, Spalax ehrenbergi.
Vincek V, Nizetić D, Golubić M, Figueroa F, Nevo E
Molecular Biology and Evolution, Oxford University Press (Oup) vol. 4 (5), 483-491.  
01-09-1987
Major histocompatibility complex gene organization in the mole rat Spalax ehrenbergi: evidence for transfer of function between class II genes.
Nizetić D, Figueroa F, Dembić Z
Proceedings of The National Academy of Sciences of The United States of America, Proceedings of The National Academy of Sciences vol. 84 (16), 5828-5832.  
01-08-1987
Evolutionary diversification of class II P loci in the Mhc of the mole-rat Spalax ehrenbergi.
Schöpfer R, Figueroa F, Klein J
Molecular Biology and Evolution, Oxford University Press (Oup) vol. 4 (3), 287-299.  
01-05-1987

1985

Major histocompatibility complex of the mole-rat
Nižetić D, Figueroa F, Klein J
Immunogenetics, Springer Nature vol. 22 (1), 55-67.  
01-07-1985
Evolution of mouse major histocompatibility complex genes borne by t chromosomes.
Figueroa F, Golubić M, Klein J
Proceedings of The National Academy of Sciences of The United States of America, Proceedings of The National Academy of Sciences vol. 82 (9), 2819-2823.  
01-05-1985

1984

Major histocompatibility complex of the mole-rat
Nižetić D, Figueroa F, Müller H-J, Arden B
Immunogenetics, Springer Nature vol. 20 (4), 443-451.  
01-10-1984
Evolutionary relationships between the t and H-2 haplotypes in the house mouse
Nižetić D, Figueroa F
Immunogenetics, Springer Nature vol. 19 (4), 311-320.  
01-04-1984

Synaptic and intrinsic membrane defects disrupt early neural network dynamics in Down syndrome
Hannan SB, Alić I, Murray A, Kwon J, Mortensen M, Kang HJ, Plećaš A, Goh PA et al.
In Biorxiv 
Single-cell atlas of the fetal Down syndrome cortex uncovers chromosome 21 regulators of intellectual disability gene networks
Lattke M, Tan WL, Sukumaran SK, Utami KH, Sintes M, Sakthivel S, Tan J, Lim A et al.
In Biorxiv 
Accelerated biological aging in people with Down syndrome with full and segmental trisomy 21 begins in childhood as revealed by immunoglobulin G glycosylation
Cindric A, Vuckovic F, Koschut D, Borelli V, Juric J, Pucic-Bakovic M, Slana A, Deris H et al.
In Research Square 
“Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene-dose-sensitive AD-suppressor in human brain”
Alić I, Goh PA, Murray A, Portelius E, Gkanatsiou E, Gough G, Mok KY, Koschut D et al.
In Biorxiv 
RAS activation via CRLF2 signaling is a widespread mechanism in Down syndrome acute lymphoblastic leukemia regardless of RAS mutations
Koschut D, Ray D, Li Z, Giarin E, Groet J, Alić I, Kham SK-Y, Chng WJ et al.
In Biorxiv 
Neurofilament light as a blood biomarker for neurodegeneration in Down syndrome
Strydom A, Heslegrave A, Startin CM, Mok KY, Hardy J, Groet J, Nizetic D, Zetterberg H et al.
In Biorxiv 
Total cell N-glycosylation is altered during neuronal differentiation of iPSC to NSC and is disturbed by trisomy 21
Cindrić A, Vučković F, Murray A, Klarić T, Alić I, Petrović DJ, Krištić J, Nižetić D et al.
In Biorxiv