Down syndrome and the complexity of genome dosage imbalance

Prenatal Diagnosis Innovation: Genome Sequencing of Maternal Plasma

(2016) Felix C.K. Wong et al.   Annual Review of Medicine

Amyloid precursor protein–mediated endocytic pathway disruption induces axonal dysfunction and neurodegeneration

(2016) Wei Xu et al.   JOURNAL OF CLINICAL INVESTIGATION

Safety and efficacy of cognitive training plus epigallocatechin-3-gallate in young adults with Down's syndrome (TESDAD): a double-blind, randomised, placebo-controlled, phase 2 trial

(2016) Rafael de la Torre et al.   LANCET NEUROLOGY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Down Syndrome Developmental Brain Transcriptome Reveals Defective Oligodendrocyte Differentiation and Myelination

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

An Anti-β-Amyloid Vaccine for Treating Cognitive Deficits in a Mouse Model of Down Syndrome

(2016) Pavel V. Belichenko et al.   PLoS One

Systematic Cellular Disease Models Reveal Synergistic Interaction of Trisomy 21 and GATA1 Mutations in Hematopoietic Abnormalities

(2016) Kimihiko Banno et al.   Cell Reports

Genetic dissection of Down syndrome-associated congenital heart defects using a new mouse mapping panel

(2016) Eva Lana-Elola et al.   eLife

Trisomy 21 consistently activates the interferon response

(2016) Kelly D Sullivan et al.   eLife

Down syndrome and Alzheimer's disease: Common pathways, common goals

(2015) Dean Hartley et al.   Alzheimers & Dementia

Population Variation and Genetic Control of Modular Chromatin Architecture in Humans

(2015) Sebastian M. Waszak et al.   CELL

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies

(2015) Jianling Ji et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Gain of chromosome 21 or amplification of chromosome arm 21q is one mechanism for increasedERGexpression in acute myeloid leukemia

(2015) Simone Weber et al.   GENES CHROMOSOMES & CANCER

Forniceal deep brain stimulation rescues hippocampal memory in Rett syndrome mice

(2015) Shuang Hao et al.   NATURE

A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome

(2015) Frances K. Wiseman et al.   NATURE REVIEWS NEUROSCIENCE

Long-term effects of neonatal treatment with fluoxetine on cognitive performance in Ts65Dn mice

(2015) Fiorenza Stagni et al.   NEUROBIOLOGY OF DISEASE

Haploinsufficiency predictions without study bias

(2015) Julia Steinberg et al.   NUCLEIC ACIDS RESEARCH

HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells

(2015) Audrey Letourneau et al.   PLoS One

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

(2015) et al.   SCIENCE

Brief Report: Isogenic Induced Pluripotent Stem Cell Lines From an Adult With Mosaic Down Syndrome Model Accelerated Neuronal Ageing and Neurodegeneration

(2015) Aoife Murray et al.   STEM CELLS

Timing of therapies for Down syndrome: the sooner, the better

(2015) Fiorenza Stagni et al.   Frontiers in Behavioral Neuroscience

Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects

(2015) Dhanya Ramachandran et al.   G3-Genes Genomes Genetics

Opposite Phenotypes of Muscle Strength and Locomotor Function in Mouse Models of Partial Trisomy and Monosomy 21 for the Proximal Hspa13-App Region

(2015) Véronique Brault et al.   PLoS Genetics

DYRK1A: A Potential Drug Target for Multiple Down Syndrome Neuropathologies

(2014) Walter Becker et al.   CNS & Neurological Disorders-Drug Targets

miR-99a/100 125b tricistrons regulate hematopoietic stem and progenitor cell homeostasis by shifting the balance between TGF  and Wnt signaling

(2014) S. Emmrich et al.   GENES & DEVELOPMENT

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

(2014) Audrey Letourneau et al.   NATURE

Up and down in Down's syndrome

(2014) Benjamin D. Pope 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

Maternal choline supplementation improves spatial mapping and increases basal forebrain cholinergic neuron number and size in aged Ts65Dn mice

(2014) Jessica A. Ash et al.   NEUROBIOLOGY OF DISEASE

Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome

(2013) S. I. Nikolaev et al.   BLOOD

Acute lymphoblastic leukemia in children with Down syndrome: a retrospective analysis from the Ponte di Legno study group

(2013) T. D. Buitenkamp et al.   BLOOD

Development of acute megakaryoblastic leukemia in Down syndrome is associated with sequential epigenetic changes

(2013) S. Malinge et al.   BLOOD

GATA1-mutant clones are frequent and often unsuspected in babies with Down syndrome: identification of a population at risk of leukemia

(2013) I. Roberts et al.   BLOOD

The population prevalence of Down’s syndrome in England and Wales in 2011

(2013) Jianhua Wu et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

(2013) M. R. Sailani et al.   GENOME RESEARCH

Engineered chromosome-based genetic mapping establishes a 3.7 Mb critical genomic region for Down syndrome-associated heart defects in mice

(2013) Chunhong Liu et al.   HUMAN GENETICS

Reduction of Synaptojanin 1 Accelerates Aβ Clearance and Attenuates Cognitive Deterioration in an Alzheimer Mouse Model

(2013) Li Zhu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Reducing GABAA  5 Receptor-Mediated Inhibition Rescues Functional and Neuromorphological Deficits in a Mouse Model of Down Syndrome

(2013) C. Martinez-Cue et al.   JOURNAL OF NEUROSCIENCE

AKT collaborates with ERG and Gata1s to dysregulate megakaryopoiesis and promote AMKL

(2013) M J Stankiewicz et al.   LEUKEMIA

Epigallocatechin-3-gallate, a DYRK1A inhibitor, rescues cognitive deficits in Down syndrome mouse models and in humans

(2013) Rafael De la Torre et al.   MOLECULAR NUTRITION & FOOD RESEARCH

Translating dosage compensation to trisomy 21

(2013) Jun Jiang et al.   NATURE

Transcriptome and genome sequencing uncovers functional variation in humans

(2013) Tuuli Lappalainen et al.   NATURE

Cerebral organoids model human brain development and microcephaly

(2013) Madeline A. Lancaster et al.   NATURE

The landscape of somatic mutations in Down syndrome–related myeloid disorders

(2013) Kenichi Yoshida et al.   NATURE GENETICS

Maternal choline supplementation improves spatial learning and adult hippocampal neurogenesis in the Ts65Dn mouse model of Down syndrome

(2013) Ramon Velazquez et al.   NEUROBIOLOGY OF DISEASE

Pharmacotherapy with Fluoxetine Restores Functional Connectivity from the Dentate Gyrus to Field CA3 in the Ts65Dn Mouse Model of Down Syndrome

(2013) Fiorenza Stagni et al.   PLoS One

Deficits in human trisomy 21 iPSCs and neurons

(2013) J. P. Weick et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Coordinated Effects of Sequence Variation on DNA Binding, Chromatin Structure, and Transcription

(2013) H. Kilpinen et al.   SCIENCE

Early Pharmacotherapy with Fluoxetine Rescues Dendritic Pathology in the Ts65Dn Mouse Model of Down Syndrome

(2012) Sandra Guidi et al.   BRAIN PATHOLOGY

MicroRNA Regulation of Cbx7 Mediates a Switch of Polycomb Orthologs during ESC Differentiation

(2012) Ana O'Loghlen et al.   Cell Stem Cell

Trisomy Correction in Down Syndrome Induced Pluripotent Stem Cells

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

Modeling neurogenesis impairment in down syndrome with induced pluripotent stem cells from Trisomy 21 amniotic fluid cells

(2012) Huai-En Lu et al.   EXPERIMENTAL CELL RESEARCH

GENCODE: The reference human genome annotation for The ENCODE Project

(2012) J. Harrow et al.   GENOME RESEARCH

Trisomy for Synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes

(2012) Jack-Christophe Cossec et al.   HUMAN MOLECULAR GENETICS

An expansive human regulatory lexicon encoded in transcription factor footprints

(2012) Shane Neph et al.   NATURE

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

Down syndrome: the brain in trisomic mode

(2012) Mara Dierssen   NATURE REVIEWS NEUROSCIENCE

Role of common and rare APP DNA sequence variants in Alzheimer disease

(2012) B. V. Hooli et al.   NEUROLOGY

Trisomy 21-associated defects in human primitive hematopoiesis revealed through induced pluripotent stem cells

(2012) S. T. Chou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Altered hematopoiesis in trisomy 21 as revealed through in vitro differentiation of isogenic human pluripotent cells

(2012) G. A. MacLean et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Integration-Free Induced Pluripotent Stem Cells Model Genetic and Neural Developmental Features of Down Syndrome Etiology

(2012) James A. Briggs et al.   STEM CELLS

Generation of disease-specific induced pluripotent stem cells from patients with different karyotypes of Down syndrome

(2012) Xiaoning Mou et al.   Stem Cell Research & Therapy

Human Pluripotent Stem Cells: Applications and Challenges in Neurological Diseases

(2012) Youssef Hibaoui et al.   Frontiers in Physiology

Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly

(2011) BWM van Bon et al.   CLINICAL GENETICS

Genetic analysis of Down syndrome-associated heart defects in mice

(2011) Chunhong Liu et al.   HUMAN GENETICS

Mapping and analysis of chromatin state dynamics in nine human cell types

(2011) Jason Ernst et al.   NATURE

Massive-Scale RNA-Seq Analysis of Non Ribosomal Transcriptome in Human Trisomy 21

(2011) Valerio Costa et al.   PLoS One

Over-Expression of DSCAM and COL6A2 Cooperatively Generates Congenital Heart Defects

(2011) Tamar R. Grossman et al.   PLoS Genetics

Perinatal choline supplementation improves cognitive functioning and emotion regulation in the Ts65Dn mouse model of Down syndrome.

(2010) Jisook Moon et al.   BEHAVIORAL NEUROSCIENCE

Down's syndrome-like cardiac developmental defects in embryos of the transchromosomic Tc1 mouse

(2010) Louisa Dunlevy et al.   CARDIOVASCULAR RESEARCH

A mouse model of Down syndrome trisomic for all human chromosome 21 syntenic regions

(2010) Tao Yu et al.   HUMAN MOLECULAR GENETICS

Early Pharmacotherapy Restores Neurogenesis and Cognitive Performance in the Ts65Dn Mouse Model for Down Syndrome

(2010) P. Bianchi et al.   JOURNAL OF NEUROSCIENCE

Bidirectional changes to hippocampal theta-gamma comodulation predict memory for recent spatial episodes

(2010) P. R. Shirvalkar et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Characterising and Predicting Haploinsufficiency in the Human Genome

(2010) Ni Huang et al.   PLoS Genetics

Insights into the manifestations, outcomes, and mechanisms of leukemogenesis in Down syndrome

(2009) S. Malinge et al.   BLOOD

Down syndrome acute lymphoblastic leukemia, a highly heterogeneous disease in which aberrant expression of CRLF2 is associated with mutated JAK2: a report from the International BFM Study Group

(2009) L. Hertzberg et al.   BLOOD

Acute megakaryoblastic leukaemia (AMKL) and transient myeloproliferative disorder (TMD) in Down syndrome: a multi-step model of myeloid leukaemogenesis

(2009) Anindita Roy et al.   BRITISH JOURNAL OF HAEMATOLOGY

A new mouse model for the trisomy of the Abcg1–U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome

(2009) Patricia Lopes Pereira et al.   HUMAN MOLECULAR GENETICS

Rearrangement of CRLF2 in B-progenitor– and Down syndrome–associated acute lymphoblastic leukemia

(2009) Charles G Mullighan et al.   NATURE GENETICS

Green Tea Polyphenols Rescue of Brain Defects Induced by Overexpression of DYRK1A

(2009) Fayçal Guedj et al.   PLoS One

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

Cytoskeletal pathologies of Alzheimer disease

(2009) James R. Bamburg et al.   CELL MOTILITY AND THE CYTOSKELETON

Memory enhancement induced by hypothalamic/fornix deep brain stimulation

(2008) Clement Hamani et al.   ANNALS OF NEUROLOGY

Disease-Specific Induced Pluripotent Stem Cells

(2008) In-Hyun Park et al.   CELL

Mechanisms and Functional Implications of Adult Neurogenesis

(2008) Chunmei Zhao et al.   CELL

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

Inducing Segmental Aneuploid Mosaicism in the Mouse Through Targeted Asymmetric Sister Chromatid Event of Recombination

(2008) A. Duchon et al.   GENETICS

Domain organization of human chromosomes revealed by mapping of nuclear lamina interactions

(2008) Lars Guelen et al.   NATURE

Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma

(2008) R. W. K. Chiu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic Mapping in Human Disease

(2008) D. Altshuler et al.   SCIENCE