相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。The role of overexpressed DYRK1A protein in the early onset of neurofibrillary degeneration in Down syndrome
Jerzy Wegiel et al.
ACTA NEUROPATHOLOGICA (2008)
DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome
Claudia Canzonetta et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
被撤回的出版物: Human chromosome 21-derived miRNAs are overexpressed in down syndrome brains and hearts (Retracted article. See vol. 436, pg. 564, 2013)
Donald E. Kuhn et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2008)
Highly penetrant myeloproliferative disease in the Ts65Dn mouse model of Down syndrome
Gina Kirsammer et al.
BLOOD (2008)
Abnormalities in the myeloid progenitor compartment in Down syndrome fetal liver precede acquisition of GATA1 mutations
Oliver Tunstall-Pedoe et al.
BLOOD (2008)
Trisomy 21 enhances human fetal erythro-megakaryocytic development
Stella T. Chou et al.
BLOOD (2008)
Activating mutations in human acute megakaryoblastic leukemia
Sebastien Malinge et al.
BLOOD (2008)
Axonal abnormalities in cerebellar Purkinje cells of the Ts65Dn mouse
Daniela Necchi et al.
BRAIN RESEARCH (2008)
Functional analysis of JAK3 mutations in transient myeloproliferative disorder and acute megakaryoblastic leukaemia accompanying Down syndrome
Tomohiko Sato et al.
BRITISH JOURNAL OF HAEMATOLOGY (2008)
Overexpression of Dyrk1A contributes to neurofibrillary degeneration in Down syndrome
Fei Liu et al.
FASEB JOURNAL (2008)
Inducing segmental aneuploid mosaicism in the mouse through targeted asymmetric sister chromatid event of recombination
Arnaud Duchon et al.
GENETICS (2008)
Increased dosage of Dyrk1A alters alternative splicing factor (ASF)-regulated alternative splicing of tau in Down syndrome
Jianhua Shi et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
Dual-specificity tyrosine(Y)-phosphorylation regulated kinase 1A-mediated phosphorylation of amyloid precursor protein: evidence for a functional link between Down syndrome and Alzheimer's disease
Soo-Ryoon Ryoo et al.
JOURNAL OF NEUROCHEMISTRY (2008)
Sprouty2-mediated inhibition of fibroblast growth factor signaling is modulated by the protein kinase DYRK1A
Sergi Aranda et al.
MOLECULAR AND CELLULAR BIOLOGY (2008)
Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome
Dani Bercovich et al.
LANCET (2008)
Preservation of long-term memory and synaptic plasticity despite short-term impairments in the Tc1 mouse model of Down syndrome
Elise Morice et al.
LEARNING & MEMORY (2008)
Trisomy represses ApcMin-mediated tumours in mouse models of Down's syndrome
Thomas E. Sussan et al.
NATURE (2008)
Large recurrent microdeletions associated with schizophrenia
Hreinn Stefansson et al.
NATURE (2008)
Identification of loci associated with schizophrenia by genome-wide association and follow-up
Michael C. O'Donovan et al.
NATURE GENETICS (2008)
Common variants near MC4R are associated with fat mass, weight and risk of obesity
Ruth J. F. Loos et al.
NATURE GENETICS (2008)
Speeding of miniature excitatory post-synaptic currents in Ts65Dn cultured hippocampal neurons
Tyler K. Best et al.
NEUROSCIENCE LETTERS (2008)
Prevention of Developmental Delays in a Down Syndrome Mouse Model
Laura Toso et al.
OBSTETRICS AND GYNECOLOGY (2008)
Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome
Sergey V. Voronov et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Acute injections of the NMDA receptor antagonist memantine rescue performance deficits of the Ts65Dn mouse model of Down syndrome on a fear conditioning test
Alberto C. S. Costa et al.
NEUROPSYCHOPHARMACOLOGY (2008)
Neurogenesis impairment and increased cell death reduce total neuron number in the hippocampal region of fetuses with Down syndrome
Sandra Guidi et al.
BRAIN PATHOLOGY (2008)
Characterization of the cardiac phenotype in neonatal Ts65Dn mice
Austin D. Williams et al.
DEVELOPMENTAL DYNAMICS (2008)
Cytogenetic features of acute lymphoblastic and myeloid leukemias in pediatric patients with Down syndrome:: an iBFM-SG study
Erik Forestier et al.
BLOOD (2008)
DYRK1A-mediated hyperphosphorylation of Tau - A functional link between Down syndrome and Alzheimer disease
Soo-Ryoon Ryoo et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Synaptic and cognitive abnormalities in mouse models of down syndrome: Exploring genotype-phenotype relationships
Pavel V. Belichenko et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2007)
Dyrk1A overexpression in immortalized hippocampal cells produces the neuropathological features of Down syndrome
Joongkyu Park et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2007)
Alpha- and beta-secretase activity as a function of age and beta-amyloid in Down syndrome and normal brain
A. Nistor et al.
NEUROBIOLOGY OF AGING (2007)
Association between genetic variants in sortilin-related receptor 1 (SORL1) and Alzheimer's disease in adults with Down syndrome
Joseph. H. Lee et al.
NEUROSCIENCE LETTERS (2007)
Trisomy of chromosome 21 in leukemogenesis
Shai Izraeli et al.
BLOOD CELLS MOLECULES AND DISEASES (2007)
Classification of human chromosome 21 gene-expression variations in down syndrome:: Impact on disease phenotypes
E. Ait Yahya-Graison et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Modeling the monosomy for the telomeric part of human chromosome 21 reveals haploinsufficient genes modulating the inflammatory and airway responses
Vanessa Besson et al.
HUMAN MOLECULAR GENETICS (2007)
Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3′ untranslated region:: A mechanism for functional single-nucleotide polymorphisms related to phenotypes
Praveen Sethupathy et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance
Paola Prandini et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Janus kinase mutations in the development of acute megakaryoblastic leukemia in children with and without Down's syndrome
J. H. Klusmann et al.
LEUKEMIA (2007)
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
Ewan Birney et al.
NATURE (2007)
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
Richa Saxena et al.
SCIENCE (2007)
Duplication of the entire 22.9 Mb human chromosome 21 syntenic region on mouse chromosome 16 causes cardiovascular and gastrointestinal abnormalities
Zhongyou Li et al.
HUMAN MOLECULAR GENETICS (2007)
What is a gene, post-ENCODE? History and updated definition
Mark B. Gerstein et al.
GENOME RESEARCH (2007)
Prominent use of distal 5′ transcription start sites and discovery of a large number of additional exons in ENCODE regions
France Denoeud et al.
GENOME RESEARCH (2007)
RCAN1 (DSCR1) increases neuronal susceptibility to oxidative stress:: a potential pathogenic process in neurodegeneration
Silvia Porta et al.
HUMAN MOLECULAR GENETICS (2007)
Loss-of-function JAK3 mutations in TMD and AMKL of Down syndrome
Serena De Vita et al.
BRITISH JOURNAL OF HAEMATOLOGY (2007)
Effects of aneuploidy on skull growth in a mouse model of Down syndrome
Cheryl A. Hill et al.
JOURNAL OF ANATOMY (2007)
Trisomy for the Down syndrome 'critical region' is necessary but not sufficient for brain phenotypes of trisomic mice
Lisa E. Olson et al.
HUMAN MOLECULAR GENETICS (2007)
Novel activating JAK2 mutation in a patient with Down syndrome and B-cell precursor acute lymphoblastic leukemia
Sebastien Malinge et al.
BLOOD (2007)
Trisomy-driven overexpression of DYRK1A kinase in the brain of subjects with Down syndrome
Wieslaw K. Dowjat et al.
NEUROSCIENCE LETTERS (2007)
Ts65Dn, a mouse model of Down syndrome, exhibits increased GABAB-induced potassium current
Tyler K. Best et al.
JOURNAL OF NEUROPHYSIOLOGY (2007)
Gene expression variation in 'Down syndrome' mice allows prioritization of candidate genes
Marc Sultan et al.
GENOME BIOLOGY (2007)
The DYRK1A gene, encoded in chromosome 21 Down syndrome critical region, bridges between beta-amyloid production and tau phosphorylation in Alzheimer disease
Ryo Kimura et al.
HUMAN MOLECULAR GENETICS (2007)
JAK3 mutations occur in acute megakaryoblastic leukemia both in Down syndrome children and non-Down syndrome adults
H. Kiyoi et al.
LEUKEMIA (2007)
Incidence of Down syndrome in Dubai, UAE
Sabita K. Murthy et al.
MEDICAL PRINCIPLES AND PRACTICE (2007)
Cell cycle alteration and decreased cell proliferation in the hippocampal dentate gyrus and in the neocortical germinal matrix of fetuses with down syndrome and in Ts65Dn mice
Andrea Contestabile et al.
HIPPOCAMPUS (2007)
MNB/DYRK1A phosphorylation regulates the interactions of synaptojanin 1 with endocytic accessory proteins
Tatyana Adayev et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2006)
Dyrk1A phosphorylates α-synuclein and enhances intracellular inclusion formation
Eun Joo Kim et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999-2001
Mark A. Canfield et al.
BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY (2006)
New techniques to understand chromosome dosage: mouse models of aneuploidy
Victor L. J. Tybulewicz et al.
HUMAN MOLECULAR GENETICS (2006)
Postnatal lethality and cardiac anomalies in the Ts65Dn Down Syndrome mouse model
Clara S. Moore
MAMMALIAN GENOME (2006)
Effects of overexpression of Sim2 on spatial memory and expression of synapsin I in rat hippocampus
Xianfang Meng et al.
CELL BIOLOGY INTERNATIONAL (2006)
Mitochondrial dysfunction and tau hyperphosphorylation in Ts1Cje, a mouse model for Down syndrome
Ebrahim Abdul Shukkur et al.
HUMAN MOLECULAR GENETICS (2006)
Hippocampal hypocellularity in the Ts65Dn mouse originates early in development
Hernan A. Lorenzi et al.
BRAIN RESEARCH (2006)
Modeling chromosomes in mouse to explore the function of genes, genomic disorders, and chromosomal organization
Veronique Brault et al.
PLOS GENETICS (2006)
Activating alleles of JAK3 in acute megakaryoblastic leukemia
Denise K. Walters et al.
CANCER CELL (2006)
Fluoxetine rescues deficient neurogenesis in hippocampus of the Ts65Dn mouse model for Down syndrome
Sarah Clark et al.
EXPERIMENTAL NEUROLOGY (2006)
DYRKIA BAC transgenic mice show altered synaptic plasticity with learning and memory defects
Kyoung-Jin Ahn et al.
NEUROBIOLOGY OF DISEASE (2006)
NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21
Joseph R. Arron et al.
NATURE (2006)
A genome-wide Drosophila RNAi screen identifies DYRK-family kinases as regulators of NFAT
Yousang Gwack et al.
NATURE (2006)
RCAN1 (DSCR1 or Adapt78) stimulates expression of GSK-3β
G Ermak et al.
FEBS JOURNAL (2006)
The incidence patterns of Down syndrome in Qatar
AA Wahab et al.
CLINICAL GENETICS (2006)
Abnormal expression of the G-protein-activated inwardly rectifying potassium channel 2 (GIRK2) in hippocampus, frontal cortex, and substantia nigra of Ts65Dn mouse: A model of Down syndrome
C Harashima et al.
JOURNAL OF COMPARATIVE NEUROLOGY (2006)
Defective cerebellar response to mitogenic Hedgehog signaling in Down's syndrome mice
RJ Roper et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes
A O'Doherty et al.
SCIENCE (2005)
Abnormal APP, cholinergic and cognitive function in Ts65Dn Down's model mice
HY Seo et al.
EXPERIMENTAL NEUROLOGY (2005)
Characterization of cyclin L2, a novel cyclin with an arginine/serine-rich domain -: Phosphorylation by DYRK1A and colocalization with splicing factors
K de Graaf et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Motor phenotypic alterations in TgDyrk1a transgenic mice implicate DYRK1A in Down syndrome motor dysfunction
MM de Lagrán et al.
NEUROBIOLOGY OF DISEASE (2004)
MicroRNAs: Genomics, biogenesis, mechanism, and function
DP Bartel
CELL (2004)
Chromosome 21 and Down syndrome: From genomics to pathophysiology
SE Antonarakis et al.
NATURE REVIEWS GENETICS (2004)
Mutagenic insertion and chromosome engineering resource (MICER)
DJ Adams et al.
NATURE GENETICS (2004)
Minocycline prevents cholinergic loss in a mouse model of Down's syndrome
CL Hunter et al.
ANNALS OF NEUROLOGY (2004)
A chromosome 21 critical region does not cause specific down syndrome phenotypes
LE Olson et al.
SCIENCE (2004)
Behavioral comparison of 4 and 6 month-old Ts65Dn mice: Age-related impairments in working and reference memory
CL Hunter et al.
BEHAVIOURAL BRAIN RESEARCH (2003)
Estrogen restores cognition and cholinergic phenotype in an animal model of Down syndrome
ACE Granholm et al.
PHYSIOLOGY & BEHAVIOR (2002)
The changing survival profile of people with Down's syndrome: implications for genetic counselling
EJ Glasson et al.
CLINICAL GENETICS (2002)
Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome
J Wechsler et al.
NATURE GENETICS (2002)
Mortality associated with Down's syndrome in the USA from 1983 to 1997: a population-based study
QH Yang et al.
LANCET (2002)
Efficient eukaryotic expression system for authentic human sex hormone-binding globulin
J Hilpert et al.
BIOCHEMICAL JOURNAL (2001)
Chronic overexpression of the calcineurin inhibitory gene DSCR1 (Adapt78) is associated with Alzheimer's disease
G Ermak et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome
X Altafaj et al.
HUMAN MOLECULAR GENETICS (2001)
Failed retrograde transport of NGF in a mouse model of Down's syndrome: Reversal of cholinergic neurodegenerative phenotypes following NGF infusion
JD Cooper et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)
Pattern of malignant disorders in individuals with Down's syndrome
Henrik Hasle
LANCET ONCOLOGY (2001)
DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways
JJ Fuentes et al.
HUMAN MOLECULAR GENETICS (2000)
Loss of cholinergic phenotype in basal forebrain coincides with cognitive decline in a mouse model of Down's syndrome
ACE Granholm et al.
EXPERIMENTAL NEUROLOGY (2000)