Consequences of chromosome gain: A new view on trisomy syndromes

Down-syndrome-induced senescence disrupts the nuclear architecture of neural progenitors

(2022) Hiruy S. Meharena et al.   Cell Stem Cell

APP and DYRK1A regulate axonal and synaptic vesicle protein networks and mediate Alzheimer’s pathology in trisomy 21 neurons

(2022) Chun-I Wu et al.   MOLECULAR PSYCHIATRY

Consequences of Chromosome Loss: Why Do Cells Need Each Chromosome Twice?

(2022) Narendra Kumar Chunduri et al.   Cells

Extensive protein dosage compensation in aneuploid human cancers

(2022) Klaske M. Schukken et al.   GENOME RESEARCH

Consequences of aneuploidy in human fibroblasts with trisomy 21

(2021) Sunyoung Hwang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The genome-wide impact of trisomy 21 on DNA methylation and its implications for hematopoiesis

(2021) Ivo S. Muskens et al.   Nature Communications

Autoimmunity and Genetic Syndromes: A Focus on Down Syndrome

(2021) Marta Ferrari et al.   Genes

Stress Responses in Down Syndrome Neurodegeneration: State of the Art and Therapeutic Molecules

(2021) Chiara Lanzillotta et al.   Biomolecules

Parent‐reported histories of adults with trisomy 13 syndrome

(2021) Amy N. Lebedoff et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Prenatal histological, cellular, and molecular anomalies in Trisomy 21 lung

(2021) Soula Danopoulos et al.   JOURNAL OF PATHOLOGY

Trisomy 21-associated increases in chromosomal instability are unmasked by comparing isogenic trisomic/disomic leukocytes from people with mosaic Down syndrome

(2021) Kelly Rafferty et al.   PLoS One

Restoration of keratinocytic phenotypes in autonomous trisomy-rescued cells

(2021) Akiko Tanuma-Takahashi et al.   Stem Cell Research & Therapy

Premature Senescence and Increased Oxidative Stress in the Thymus of Down Syndrome Patients

(2021) Genni Enza Marcovecchio et al.   Frontiers in Immunology

Genotoxic stress in constitutive trisomies induces autophagy and the innate immune response via the cGAS-STING pathway

(2021) Maria Krivega et al.   Communications Biology

Down syndrome and type I interferon: not so simple

(2021) Louise Malle et al.   CURRENT OPINION IN IMMUNOLOGY

Partial Trisomy 9p with Clinical Symptoms Resembling Interferonopathies

(2021) Yuzaburo Inoue et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Integrated functional genomic analyses of Klinefelter and Turner syndromes reveal global network effects of altered X chromosome dosage

(2020) Xianglong Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Down syndrome

(2020) Stylianos E. Antonarakis et al.   Nature Reviews Disease Primers

Immune Dysregulation in Children With Down Syndrome

(2020) Dean Huggard et al.   Frontiers in Pediatrics

Molecular mechanisms and cellular functions of cGAS–STING signalling

(2020) Karl-Peter Hopfner et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Immune Defect in Adults With Down Syndrome: Insights Into a Complex Issue

(2020) Yannick Dieudonné et al.   Frontiers in Immunology

The Dysregulation of OGT/OGA Cycle Mediates Tau and APP Neuropathology in Down Syndrome

(2020) Ilaria Zuliani et al.   Neurotherapeutics

Autophagy induction via STING trafficking is a primordial function of the cGAS pathway

(2019) Xiang Gui et al.   NATURE

Autophagic cell death restricts chromosomal instability during replicative crisis

(2019) Joe Nassour et al.   NATURE

Role of aneuploidy in the carcinogenic process: Part III of the Report of the 2017 IWGT workgroup on assessing the risk of aneugens for carcinogenesis and hereditary diseases

(2019) David Tweats et al.   MUTATION RESEARCH-GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS

“Immuno‐flowFISH” for the Assessment of Cytogenetic Abnormalities in Chronic Lymphocytic Leukemia

(2019) Henry Y.L. Hui et al.   CYTOMETRY PART A

Chromosomal instability and pro-inflammatory response in aging

(2019) Monika Barroso-Vilares et al.   MECHANISMS OF AGEING AND DEVELOPMENT

Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Functions

(2019) Maria Sobol et al.   MOLECULAR NEUROBIOLOGY

The emerging links between chromosomal instability (CIN), metastasis, inflammation and tumour immunity

(2019) Andréa E. Tijhuis et al.   Molecular Cytogenetics

Elimination of protein aggregates prevents premature senescence in human trisomy 21 fibroblasts

(2019) Nobutoshi Nawa et al.   PLoS One

mTOR hyperactivation in Down Syndrome underlies deficits in autophagy induction, autophagosome formation, and mitophagy

(2019) Matteo Bordi et al.   Cell Death & Disease

Trisomy 21 Driven Pro-Inflammatory Signalling in Fetal Bone Marrow May Play a Role in Perturbed B-Lymphopoiesis and Acute Lymphoblastic Leukemia of Down Syndrome

(2019) Sorcha Isabella O'Byrne et al.   BLOOD

SNARE proteins rescue impaired autophagic flux in Down syndrome

(2019) Stefanos Aivazidis et al.   PLoS One

Trisomy 21 dysregulates T cell lineages toward an autoimmunity-prone state associated with interferon hyperactivity

(2019) Paula Araya et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Activation of the ISR mediates the behavioral and neurophysiological abnormalities in Down syndrome

(2019) Ping Jun Zhu et al.   SCIENCE

Trisomy 21 activates the kynurenine pathway via increased dosage of interferon receptors

(2019) Rani K. Powers et al.   Nature Communications

Mass Cytometry Reveals Global Immune Remodeling with Multi-lineage Hypersensitivity to Type I Interferon in Down Syndrome

(2019) Katherine A. Waugh et al.   Cell Reports

Suppressing Aneuploidy-Associated Phenotypes Improves the Fitness of Trisomy 21 Cells

(2019) Sunyoung Hwang et al.   Cell Reports

Micronuclei-based model system reveals functional consequences of chromothripsis in human cells

(2019) Maja Kneissig et al.   eLife

mitoXplorer, a visual data mining platform to systematically analyze and visualize mitochondrial expression dynamics and mutations

(2019) Annie Yim et al.   NUCLEIC ACIDS RESEARCH

Integrative analyses of genes and microRNA expressions in human trisomy 21 placentas

(2018) Ji Hyae Lim et al.   BMC Medical Genomics

Dysfunction of autophagy and endosomal-lysosomal pathways: Roles in pathogenesis of Down syndrome and Alzheimer's Disease

(2018) Daniel J. Colacurcio et al.   FREE RADICAL BIOLOGY AND MEDICINE

Quantitative proteomic and phosphoproteomic comparison of human colon cancer DLD-1 cells differing in ploidy and chromosome stability

(2018) Cristina Viganó et al.   MOLECULAR BIOLOGY OF THE CELL

Assessment of genomic instability and proliferation index in cultured lymphocytes of patients with Down syndrome, congenital anomalies and aplastic anaemia

(2018) Alex George et al.   MUTATION RESEARCH-GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS

Transcriptome analysis of genetically matched human induced pluripotent stem cells disomic or trisomic for chromosome 21

(2018) Patrick K. Gonzales et al.   PLoS One

Sex-chromosome dosage effects on gene expression in humans

(2018) Armin Raznahan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Downregulation of Endothelin Receptor B Contributes to Defective B Cell Lymphopoiesis in Trisomy 21 Pluripotent Stem Cells

(2018) Glenn A. MacLean et al.   Scientific Reports

The diverse consequences of aneuploidy

(2018) Narendra Kumar Chunduri et al.   NATURE CELL BIOLOGY

Autophagosomes cooperate in the degradation of intracellular C-terminal fragments of the amyloid precursor protein via the MVB/lysosomal pathway

(2017) Alexis E. González et al.   FASEB JOURNAL

Prognostic relevance of CD163 and CD8 combined with EZH2 and gain of chromosome 18 in follicular lymphoma: a study by the Lunenburg Lymphoma Biomarker Consortium

(2017) Wendy B.C. Stevens et al.   HAEMATOLOGICA

Down Syndrome, Partial Trisomy 21, and Absence of Alzheimer’s Disease: The Role of APP

(2017) Eric Doran et al.   JOURNAL OF ALZHEIMERS DISEASE

cGAS surveillance of micronuclei links genome instability to innate immunity

(2017) Karen J. Mackenzie et al.   NATURE

Prenatal neurogenesis induction therapy normalizes brain structure and function in Down syndrome mice

(2017) Akiko Nakano-Kobayashi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells

(2017) Yansheng Liu et al.   Nature Communications

Trisomy 21 causes changes in the circulating proteome indicative of chronic autoinflammation

(2017) Kelly D. Sullivan et al.   Scientific Reports

Prognostic relevance of CD163 and CD8 combined with EZH2 and gain of chromosome 18 in follicular lymphoma: a study by the Lunenburg Lymphoma Biomarker Consortium

(2017) Wendy B.C. Stevens et al.   HAEMATOLOGICA

Intraneuronal aggregation of the β-CTF fragment of APP (C99) induces Aβ-independent lysosomal-autophagic pathology

(2016) Inger Lauritzen et al.   ACTA NEUROPATHOLOGICA

Widespread cerebellar transcriptome changes in Ts65Dn Down syndrome mouse model after lifelong running

(2016) Marius Walus et al.   BEHAVIOURAL BRAIN RESEARCH

Metabolic and Growth Rate Alterations in Lymphoblastic Cell Lines Discriminate Between Down Syndrome and Alzheimer’s Disease

(2016) Pinar Coskun et al.   JOURNAL OF ALZHEIMERS DISEASE

Induction of genomic instability and activation of autophagy in artificial human aneuploid cells

(2016) Kentaro Ariyoshi et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

Down Syndrome Developmental Brain Transcriptome Reveals Defective Oligodendrocyte Differentiation and Myelination

(2016) Jose Luis Olmos-Serrano et al.   NEURON

Placental transcriptomes in the common aneuploidies reveal critical regions on the trisomic chromosomes and genome-wide effects

(2016) Katherine Bianco et al.   PRENATAL DIAGNOSIS

The presence of extra chromosomes leads to genomic instability

(2016) Verena Passerini et al.   Nature Communications

Selective advantage of trisomic human cells cultured in non-standard conditions

(2016) Samuel D. Rutledge et al.   Scientific Reports

RCAN1 overexpression promotes age-dependent mitochondrial dysregulation related to neurodegeneration in Alzheimer’s disease

(2015) Helen Wong et al.   ACTA NEUROPATHOLOGICA

Down syndrome-A narrative review with a focus on anatomical features

(2015) Ashokan Arumugam et al.   CLINICAL ANATOMY

Aneuploidy-induced cellular stresses limit autophagic degradation

(2015) Stefano Santaguida et al.   GENES & DEVELOPMENT

A Contemporary, Single-Institutional Experience of Surgical Versus Expectant Management of Congenital Heart Disease in Trisomy 13 and 18 Patients

(2015) John P. Costello et al.   PEDIATRIC CARDIOLOGY

Neuropathological role of PI3K/Akt/mTOR axis in Down syndrome brain

(2014) Marzia Perluigi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Unique features of the transcriptional response to model aneuploidy in human cells

(2014) Milena Dürrbaum et al.   BMC GENOMICS

The Down syndrome-related protein kinase DYRK1A phosphorylates p27Kip1and Cyclin D1 and induces cell cycle exit and neuronal differentiation

(2014) Ulf Soppa et al.   CELL CYCLE

Cognitive and neurological aspects of sex chromosome aneuploidies

(2014) David S Hong et al.   LANCET NEUROLOGY

Domains of genome-wide gene expression dysregulation in Down’s syndrome

(2014) Audrey Letourneau et al.   NATURE

Triplication of a 21q22 region contributes to B cell transformation through HMGN1 overexpression and loss of histone H3 Lys27 trimethylation

(2014) Andrew A Lane et al.   NATURE GENETICS

Quantitative proteomic analysis reveals posttranslational responses to aneuploidy in yeast

(2014) Noah Dephoure et al.   eLife

Decreased cell proliferation and higher oxidative stress in fibroblasts from Down Syndrome fetuses. Preliminary study

(2013) Amparo Gimeno et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

NFAT Gene Family in Inflammation and Cancer

(2013) M.-G. Pan et al.   CURRENT MOLECULAR MEDICINE

Multiplex Genetic Fate Mapping Reveals a Novel Route of Neocortical Neurogenesis, Which Is Altered in the Ts65Dn Mouse Model of Down Syndrome

(2013) W. A. Tyler et al.   JOURNAL OF NEUROSCIENCE

Whole chromosome gain does not in itself confer cancer-like chromosomal instability

(2013) A. Valind et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Activation of autophagy in cells with abnormal karyotype

(2012) Silvia Stingele et al.   Autophagy

Trisomy Correction in Down Syndrome Induced Pluripotent Stem Cells

(2012) Li B. Li et al.   Cell Stem Cell

Over-expression of RCAN1 causes Down syndrome-like hippocampal deficits that alter learning and memory

(2012) Katherine R. Martin et al.   HUMAN MOLECULAR GENETICS

Global analysis of genome, transcriptome and proteome reveals the response to aneuploidy in human cells

(2012) Silvia Stingele et al.   Molecular Systems Biology

Genome-Wide Expression Analysis in Down Syndrome: Insight into Immunodeficiency

(2012) Chong Li et al.   PLoS One

Transcriptional consequences of aneuploidy

(2012) J. M. Sheltzer et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Two key genes closely implicated with the neuropathological characteristics in Down syndrome: DYRK1A and RCAN1

(2011) Joong-Kyu Park et al.   BMB Reports

Identification of Aneuploidy-Selective Antiproliferation Compounds

(2011) Yun-Chi Tang et al.   CELL

Sporadic Aneuploidy in PHA-Stimulated Lymphocytes of Trisomies 21, 18, and 13

(2011) O. Reish et al.   CYTOGENETIC AND GENOME RESEARCH

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

T-cell immune responses to Wilms tumor 1 protein in myelodysplasia responsive to immunosuppressive therapy

(2010) E. M. Sloand et al.   BLOOD

Widespread Proliferation Impairment and Hypocellularity in the Cerebellum of Fetuses with Down Syndrome

(2010) Sandra Guidi et al.   BRAIN PATHOLOGY

Proliferation of aneuploid human cells is limited by a p53-dependent mechanism

(2010) Sarah L. Thompson et al.   JOURNAL OF CELL BIOLOGY

A hidden incoherent switch regulates RCAN1 in the calcineurin-NFAT signaling network

(2010) S.-Y. Shin et al.   JOURNAL OF CELL SCIENCE

Dyrk1A Overexpression Inhibits Proliferation and Induces Premature Neuronal Differentiation of Neural Progenitor Cells

(2010) O. Yabut et al.   JOURNAL OF NEUROSCIENCE

Deregulated gene expression pathways in myelodysplastic syndrome hematopoietic stem cells

(2010) A Pellagatti et al.   LEUKEMIA

Down Syndrome B-Lymphocyte Subpopulations, Intrinsic Defect or Decreased T-Lymphocyte Help

(2010) Ruud H J Verstegen et al.   PEDIATRIC RESEARCH

Alzheimer's-related endosome dysfunction in Down syndrome is A -independent but requires APP and is reversed by BACE-1 inhibition

(2009) Y. Jiang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

(2009) J. O. Korbel et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Phenotype of apoptotic lymphocytes in children with Down syndrome

(2009) Solaf M Elsayed et al.   Immunity & Ageing

Reduced cell number in the neocortical part of the human fetal brain in Down syndrome

(2008) Karen Bonde Larsen et al.   ANNALS OF ANATOMY-ANATOMISCHER ANZEIGER

Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

(2008) Robert Lyle et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Aneuploidy: Cells Losing Their Balance

(2008) Eduardo M. Torres et al.   GENETICS

Autophagy Is Essential for Preimplantation Development of Mouse Embryos

(2008) S. Tsukamoto et al.   SCIENCE

Aneuploidy Affects Proliferation and Spontaneous Immortalization in Mammalian Cells

(2008) B. R. Williams et al.   SCIENCE

DNA damage and repair in children with Down's syndrome

(2007) Zbigniew Morawiec et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS