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Publications: Prof Dean Nizetic

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Fertan E, Böken D, Murray A, Danial JSH, Lam JYL, Wu Y, Goh PA, Alić I et al. ( 2023 ) . Cerebral organoids with chromosome 21 trisomy secrete Alzheimer’s disease-related soluble aggregates detectable by single-molecule-fluorescence and super-resolution microscopy . Molecular Psychiatry1 - 18 .
Yeap YJ, Kandiah N, Nizetic D, Lim K-L ( 2023 ) . BACE2: A Promising Neuroprotective Candidate for Alzheimer’s Disease . Journal of Alzheimer's Disease vol. 94 , ( Suppl 1 ) s159 - s171 .
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 ,
Shao X, Wang C, Wang C, Han L, Han Y, Nižetić D, Zhang Y, Han L ( 2021 ) . Mechanical Stress Induces a Transient Suppression of Cytokine Secretion in Astrocytes Assessed at the Single‐Cell Level with a High‐Throughput Microfluidic Chip . Advanced Healthcare Materials vol. 10 , ( 21 )
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 .
Tosh JL, Rhymes ER, Mumford P, Whittaker HT, Pulford LJ, Noy SJ, Cleverley K, Walker MC et al. ( 2021 ) . Publisher Correction: Genetic dissection of down syndrome‑associated alterations in APP/amyloid‑β biology using mouse models . Scientific Reports vol. 11 , ( 1 )
D'Souza H, Brady D, Wiseman FK, Good MA, Thomas MSC, Strydom A, Fisher E, Nizetic D et al. ( 2021 ) . Aligning cognitive studies in mouse models and human infants/toddlers: The case of Down Syndrome . Taking Development Seriously A Festschrift for Annette Karmiloff-Smith: Neuroconstructivism and the multi-disciplinary approach to understanding the emergence of mind ,
Tosh JL, Rhymes ER, Mumford P, Whittaker HT, Pulford LJ, Noy SJ, Cleverley K, Walker MC et al. ( 2021 ) . Genetic dissection of down syndrome-associated alterations in APP/amyloid-β biology using mouse models . Scientific Reports vol. 11 , ( 1 )
Cindric A, Vuckovic F, Koschut D, Thomas MSC, Strydom A, Rebillat A-S, Franceschi C, Lauc G et al. ( 2021 ) . Immunoglobulin G glycosylation in people with down syndrome . GLYCOBIOLOGY . vol. 31 , 1755 - 1755 .
Alic I, Goh P, Murray A, Portelius E, Gough G, Gkanatsiou E, Wallon D, Rovelet‐Lecrux A et al. ( 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 . Alzheimer's & Dementia vol. 16 , ( S2 )
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 .
Hithersay R, Baksh RA, Startin CM, Wijeratne P, Hamburg S, Carter B, Consortium TL, Strydom A ( 2020 ) . Optimal age and outcome measures for Alzheimer's disease prevention trials in people with Down syndrome . Alzheimer's & Dementia vol. 17 , ( 4 ) 595 - 604 .
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 .
Zhang K, Chooi WH, Liu S, Chin JS, Murray A, Nizetic D, Cheng D, Chew SY ( 2020 ) . Localized delivery of CRISPR/dCas9 via layer-by-layer self-assembling peptide coating on nanofibers for neural tissue engineering . Biomaterials vol. 256 ,
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 Neuropathologica Communications 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 . Journal of Neurodevelopmental Disorders vol. 12 , ( 1 )
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
Startin CM, Lowe B, Hamburg S, Hithersay R, Strydom A, Consortium L, Strydom A, Fisher E 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 ,
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 . Alzheimer's Research & Therapy vol. 11 , ( 1 )
Startin CM, Hamburg S, Strydom A, Consortium L ( 2019 ) . Comparison of Receptive Verbal Abilities Assessed Using the KBIT-2 and BPVS3 in Adults With Down Syndrome . Frontiers in Psychology vol. 9 ,
Chooi WH, Ong W, Murray A, Lin J, Nizetic D, Chew SY ( 2019 ) . Correction: Scaffold mediated gene knockdown for neuronal differentiation of human neural progenitor cells . Biomaterials Science vol. 7 , ( 6 ) 2623 - 2623 .
Startin CM, Hamburg S, Hithersay R, Al-Janabi T, Mok KY, Hardy J, Strydom A, Fisher E et al. ( 2018 ) . Cognitive markers of preclinical and prodromal Alzheimer's disease in Down syndrome . Alzheimer's & Dementia vol. 15 , ( 2 ) 245 - 257 .
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 W-J ( 2018 ) . LEE011 and ruxolitinib: a synergistic drug combination for natural killer/T-cell lymphoma (NKTCL) . Oncotarget vol. 9 , ( 61 ) 31832 - 31841 .
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-β deposition independently of an extra copy of APP . Brain vol. 141 , ( 8 ) 2457 - 2474 .
Faundez V, De Toma I, Bardoni B, Bartesaghi R, Nizetic D, de la Torre R, Kadosh RC, Herault Y et al. ( 2018 ) . Translating molecular advances in Down syndrome and Fragile X syndrome into therapies . European Neuropsychopharmacology 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 & Therapy vol. 10 , ( 1 )
Chooi WH, Ong W, Murray A, Lin J, Nizetic D, Chew SY ( 2018 ) . Scaffold mediated gene knockdown for neuronal differentiation of human neural progenitor cells . Biomaterials Science vol. 6 , ( 11 ) 3019 - 3029 .
Wiseman FK, Pulford LJ, Barkus C, Liao F, Portelius E, Webb R, Chavez‐Gutierrez L, Cleverley K et al. ( 2017 ) . [P2–141]: TRISOMY 21 CAUSES A DEFICIT IN LYSOSOMAL CATHEPSINS AND ALTERS APP/Aβ PROCESSING, INDEPENDENTLY OF AN EXTRA COPY OF APP . Alzheimer's & Dementia vol. 13 , ( 7S_Part_13 ) p661 - p662 .
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 ,
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 ,
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 )
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 .
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 .
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 .
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 .
Castleton A, Chanalaris A, Howard-Reeves J, Brazma D, Glanville J, Nizetic D, Chakraverty R, Nacheva E ( 2009 ) . Donor Derived Acute Myeloid Leukaemia Following Allogeneic Cord Blood Transplantation: A Potential Role for RUNX1 and Down Syndrome Critical Region (DSCR) Genes . Blood vol. 114 , ( 22 )
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 ,
Tripodis N, Mason R, Davies A, Nizetic D, Ragoussis J ( 2009 ) . Physical and Transcription Map of the 6p21.2–6p21.3 Boundary Region . Mitochondrial DNA Part A vol. 7 , ( 1 ) 53 - 54 .
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 .
Shimizu N, Ohki M, Sakaki Y, Minoshima S, Eki T, Murakami Y, Sugawara H, Suwa S et al. ( 2008 ) . Report of the Fifth International Workshop on Human Chromosome 21 Mapping 1994 . Cytogenetic and Genome Research vol. 70 , ( 3-4 ) 147 - 182 .
Weith A, Vance J ( 2008 ) . Report of the Second International Workshop on Human Chromosome 1 Mapping 1995 . Cytogenetic and Genome Research vol. 72 , ( 2-3 ) 113 - 154 .
Pierluigi M, Perfumo C, Cavani S, Lehrach H, Nizetic D, Bricarelli FD ( 2008 ) . An improved method for the detection of Down's syndrome aneuploidy in uncultured amniocytes . Clinical Genetics vol. 49 , ( 1 ) 32 - 36 .
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 .
Cavani S, Perfumo C, Argusti A, Pierluigi M, Perroni L, Schmiegelow K, Petersen MB, Cotter FE et al. ( 2002 ) . Cytogenetic and molecular study of 32 Down syndrome families: potential leukaemia predisposing role of the most proximal segment of chromosome 21q . British Journal of Haematology vol. 103 , ( 1 ) 213 - 216 .
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 .
Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park HS, Toyoda A, Ishll K et al. ( 2000 ) . Erratum: The DNA sequence of human chromosome 21: The chromosome 21 mapping and sequencing consortium (Nature (2000) 405 (311-319)) . Nature vol. 407 , ( 6800 )
Hattori M, Fujiyama A, Taylor TD, Watanabe H, Yada T, Park H-S, Toyoda A, Ishii K et al. ( 2000 ) . The DNA sequence of human chromosome 21 . Nature vol. 405 , ( 6784 ) 311 - 319 .
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 .
Wang SY, Cruts M, Del-Favero J, Zhang Y, Tissir F, Potier MC, Patterson D, Nizetic D et al. ( 1999 ) . A High-Resolution Physical Map of Human Chromosome 21p Using Yeast Artificial Chromosomes . Genome Research vol. 9 , ( 11 ) 1059 - 1073 .
South AP, Ives JH, James CH, Nizetic D, Cabral A, Mirza G, Marenholz I, Mischke D et al. ( 1999 ) . Human Epidermal Differentiation Complex in a Single 2.5 Mbp Long Continuum of Overlapping DNA Cloned in Bacteria Integrating Physical and Transcript Maps . Journal of Investigative Dermatology vol. 112 , ( 6 ) 910 - 918 .
Ives JH, Dagna‐Bricarelli F, Basso G, Antonarakis SE, Jee R, Cotter F, Nižetić D ( 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) . Genes Chromosomes and Cancer vol. 23 , ( 1 ) 61 - 66 .
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 .
Tripodis N, Mason R, Humphray SJ, Davies AF, Herberg JA, Trowsdale J, Nizetic D, Senger G et al. ( 1998 ) . Physical Map of Human 6p21.2–6p21.3: Region Flanking the Centromeric End of the Major Histocompatibility Complex . Genome Research vol. 8 , ( 6 ) 631 - 643 .
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 .
Lioumi M, Olavesen MG, Nizetic D, Ragoussis J ( 1998 ) . High-Resolution YAC Fragmentation Map of 1q21 . Genomics vol. 49 , ( 2 ) 200 - 208 .
Egeo A, Mazzocco M, Sotgia F, Arrigo P, Oliva R, Bergonòn S, Nizetic D, Rasore-Quartino A et al. ( 1998 ) . Identification and characterization of a new human cDNA from chromosome 21q22.3 encoding a basic nuclear protein . Human Genetics vol. 102 , ( 3 ) 289 - 293 .
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 .
Vidal-Taboada JM, Bergoñon S, Scartezzini P, Egeo A, Nizetic D, Oliva R ( 1997 ) . High-Resolution Physical Map and Identification of Potentially Regulatory Sequences of the Human SH3BGR Located in the Down Syndrome Chromosomal Region . Biochemical and Biophysical Research Communications vol. 241 , ( 2 ) 321 - 326 .
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 )
Scartezzini P, Egeo A, Colella S, Fumagalli P, Arrigo P, Nizetic D, Taramelli R, Rasore-Quartino A ( 1997 ) . Cloning a new human gene from chromosome 21q22.3 encoding a glutamic acid-rich protein expressed in heart and skeletal muscle . Human Genetics vol. 99 , ( 3 ) 387 - 392 .
Osoegawa K, Susukida R, Okano S, Kato Y, Lehrach H, Nizetic D, Soeda E ( 1996 ) . Potential CpG-rich islands clustering around single-minded gene in Down syndrome chromosomal region . Mammalian Genome vol. 7 , ( 6 ) 461 - 463 .
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 .
Olavesen MG, Davies AF, Broxholme SJ, Wixon JL, Senger G, Nizetic D, Campbell RD, Ragoussis J ( 1995 ) . An integrated map of human chromosome 6p23 . Genome Research vol. 5 , ( 4 ) 342 - 358 .
Yaspo ML, Gellen L, Mott R, Korn B, Nizetic D, Poustka AM, Lehrach H ( 1995 ) . Model for a transcript map of human chromosome 21: isolation of new coding sequences from exon and enriched cDNA libraries . Human Molecular Genetics vol. 4 , ( 8 ) 1291 - 1304 .
Nizetic D, Monard S, Young B, Cotter F, Zehetner G, Lehrach H ( 1994 ) . Construction of cosmid libraries from flow-sorted human chromosomes 1, 6, 7, 11, 13, and 18 for reference library resources . Mammalian Genome vol. 5 , ( 12 ) 801 - 802 .
Volinia S, Hiles I, Ormondroyd E, Nizetic D, Antonacci R, Rocchi M, Waterfield MO ( 1994 ) . Molecular Cloning, cDNA Sequence, and Chromosomal Localization of the Human Phosphatidylinositol 3-Kinase p110α (PIK3CA) Gene . Genomics vol. 24 , ( 3 ) 472 - 477 .
Dutriaux A, Rossier J, Van Hul W, Nizetic D, Theophille D, Delabar JM, Van Broeckhoven C, Potier M-C ( 1994 ) . Cloning and Characterization of a 135- to 500-kb Region of Homology on the Long Arm of Human Chromosome 21 . Genomics vol. 22 , ( 2 ) 472 - 477 .
Kumlien J, Labella T, Zehetner G, Vatcheva R, Nizetic D, Lehrach H ( 1994 ) . Efficient identification and regional positioning of YAC and cosmid clones to human Chromosome 21 by radiation fusion hybrids . Mammalian Genome vol. 5 , ( 6 ) 365 - 371 .
Hawthorn L, Nizetic D, Lehrach H, Cowell JK ( 1994 ) . Assignment of 55 Novel Cosmids to Seven Subregions of Chromosome 13 Using Fluorescence in Situ Hybridization . Genomics vol. 21 , ( 1 ) 248 - 250 .
Meerabux JM, Cotter FE, Kearney L, Nizetic D, Dhut S, Gibbons B, Lister TA, Young BD ( 1994 ) . Molecular cloning of a novel 11q23 breakpoint associated with non-Hodgkin's lymphoma . Oncogene vol. 9 , ( 3 ) 893 - 898 .
Nižetić D, Gellen L, Hamvas RMJ, Mott R, Grigorlev A, Vatcheva R, Zehetner G, Yaspo M-L et al. ( 1994 ) . An integrated YAC-overlap and 'cosmid-pocket' map of the human chromosome 21 . Human Molecular Genetics vol. 3 , ( 5 ) 759 - 770 .
Hamvas RMJ, Francis F, Cox RD, Nizetic D, Goldsworthy ME, Brown SDM, Lehrach HR ( 1994 ) . Rapid restriction analysis of YAC clones . Nucleic Acids Research vol. 22 , ( 7 ) 1318 - 1319 .
Delabar J-M, Créau N, Sinet P-M, Ritter O, Antonarakis SE, Burmeister M, Chakravarti A, Nizetic D et al. ( 1993 ) . Report of the fourth international workshop on human chromosome 21 . Genomics . vol. 18 , 735 - 745 .
Hoheisel JD, Maier E, Mott R, McCarthy L, Grigoriev AV, Schalkwyk LC, Nizetic D, Francis F et al. ( 1993 ) . High resolution cosmid and P1 maps spanning the 14 Mb genome of the fission yeast S. pombe . Cell vol. 73 , ( 1 ) 109 - 120 .
Baldini A, Ross M, Nizetic D, Vatcheva R, Lindsay EA, Lehrach H, Siniscalco M ( 1992 ) . Chromosomal assignment of human YAC clones by fluorescence in Situ hybridization: Use of single-yeast-colony PCR and multiple labeling . Genomics vol. 14 , ( 1 ) 181 - 184 .
Ross MT, Nižetić D, Nguyen C, Knights C, Vatcheva R, Burden N, Douglas C, Zehetner G et al. ( 1992 ) . Selection of a human chromosome 21 enriched YAC sub–library using a chromosome–specific composite probe . Nature Genetics vol. 1 , ( 4 ) 284 - 290 .
Nizetić D, Zehetner G, Monaco AP, Gellen L, Young BD, Lehrach H ( 1991 ) . Construction, arraying, and high-density screening of large insert libraries of human chromosomes X and 21: their potential use as reference libraries . Proceedings of the National Academy of Sciences of the United States of America vol. 88 , ( 8 ) 3233 - 3237 .
Nizetic D, Drmanac R, Lehrach H ( 1991 ) . An improved bacterial colony lysis procedure enables direct DNA hybridisation using short (10, 11 bases) oligonucleotides to cosmids . Nucleic Acids Research vol. 19 , ( 1 ) 182 - 182 .
Monaco AP, Lam VMS, Zehetner G, Lennon GG, Douglas C, Nizetic D, Goodfellow PN, Lehrach H ( 1991 ) . Mapping irradiation hybrids to cosmid and yeast artificial chromosome libraries by direct hybridization of Alu-PCR products . Nucleic Acids Research vol. 19 , ( 12 ) 3315 - 3318 .
Drmanac R, Nizetic D, Lennon GG, Beitverda A, Lehrach H ( 1991 ) . W (A or T) sequences as probes and primers suitable for genomic mapping and fingerprinting . Nucleic Acids Research vol. 19 , ( 21 ) 5839 - 5842 .
Carig AG, Nizetic D, Hoheisel JD, Zehetner G, Lehrach H ( 1990 ) . Ordering of cosmid clones covering the Herpes Simplex virus type I (HSV-I) genome: a test case for fingerprinting by hybridisation . Nucleic Acids Research vol. 18 , ( 9 ) 2653 - 2660 .
Hoheisel JD, Nizetic D, Lehrach H ( 1989 ) . Control of partial digestion combining the enzymes dam methylase and MboI . Nucleic Acids Research vol. 17 , ( 23 ) 9571 - 9582 .
Craig AG, Nizetic D, Lehrach H ( 1989 ) . Labelling oligonucleotides to high specific activity (I) . Nucleic Acids Research vol. 17 , ( 12 ) 4605 - 4610 .
Nižetić D, Stevanović M, Soldatović B, Savić I, Crkvenjakov R ( 1988 ) . Limited polymorphism of both classes of MHC genes in four different species of the Balkan mole rat . Immunogenetics vol. 28 , ( 2 ) 91 - 98 .
Vincek V, Nizetić D, Golubić M, Figueroa F, Nevo E, Klein J ( 1987 ) . Evolutionary expansion of Mhc class I loci in the mole-rat, Spalax ehrenbergi . Molecular Biology and Evolution vol. 4 , ( 5 ) 483 - 491 .
Nizetić D, Figueroa F, Dembić Z, Nevo E, Klein J ( 1987 ) . Major histocompatibility complex gene organization in the mole rat Spalax ehrenbergi: evidence for transfer of function between class II genes . Proceedings of the National Academy of Sciences of the United States of America vol. 84 , ( 16 ) 5828 - 5832 .
Schöpfer R, Figueroa F, Nizetić D, Nevo E, Klein J ( 1987 ) . Evolutionary diversification of class II P loci in the Mhc of the mole-rat Spalax ehrenbergi . Molecular Biology and Evolution vol. 4 , ( 3 ) 287 - 299 .
Nižetić D, Figueroa F, Nevo E, Klein J ( 1985 ) . Major histocompatibility complex of the mole-rat . Immunogenetics vol. 22 , ( 1 ) 55 - 67 .
Figueroa F, Golubić M, Nizetić D, Klein J ( 1985 ) . Evolution of mouse major histocompatibility complex genes borne by t chromosomes . Proceedings of the National Academy of Sciences of the United States of America vol. 82 , ( 9 ) 2819 - 2823 .
Nižetić D, Figueroa F, Müller H-J, Arden B, Nevo E, Klein J ( 1984 ) . Major histocompatibility complex of the mole-rat . Immunogenetics vol. 20 , ( 4 ) 443 - 451 .
Nižetić D, Figueroa F, Klein J ( 1984 ) . Evolutionary relationships between the t and H-2 haplotypes in the house mouse . Immunogenetics vol. 19 , ( 4 ) 311 - 320 .
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