4.5 Review

Down syndrome-recent progress and future prospects

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。
Article Genetics & Heredity

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)

Article Biochemistry & Molecular Biology

被撤回的出版物: Human chromosome 21-derived miRNAs are overexpressed in down syndrome brains and hearts (Retracted article.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)

Article Hematology

Activating mutations in human acute megakaryoblastic leukemia

Sebastien Malinge et al.

Article Neurosciences

Axonal abnormalities in cerebellar Purkinje cells of the Ts65Dn mouse

Daniela Necchi et al.

BRAIN RESEARCH (2008)

Article Biochemistry & Molecular Biology

Overexpression of Dyrk1A contributes to neurofibrillary degeneration in Down syndrome

Fei Liu et al.

FASEB JOURNAL (2008)

Article Biochemistry & Molecular Biology

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)

Article Biochemistry & Molecular Biology

Sprouty2-mediated inhibition of fibroblast growth factor signaling is modulated by the protein kinase DYRK1A

Sergi Aranda et al.

MOLECULAR AND CELLULAR BIOLOGY (2008)

Article Medicine, General & Internal

Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome

Dani Bercovich et al.

LANCET (2008)

Article Multidisciplinary Sciences

Trisomy represses ApcMin-mediated tumours in mouse models of Down's syndrome

Thomas E. Sussan et al.

NATURE (2008)

Article Multidisciplinary Sciences

Large recurrent microdeletions associated with schizophrenia

Hreinn Stefansson et al.

NATURE (2008)

Article Genetics & Heredity

Identification of loci associated with schizophrenia by genome-wide association and follow-up

Michael C. O'Donovan et al.

NATURE GENETICS (2008)

Article Genetics & Heredity

Common variants near MC4R are associated with fat mass, weight and risk of obesity

Ruth J. F. Loos et al.

NATURE GENETICS (2008)

Article Obstetrics & Gynecology

Prevention of Developmental Delays in a Down Syndrome Mouse Model

Laura Toso et al.

OBSTETRICS AND GYNECOLOGY (2008)

Article Multidisciplinary Sciences

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)

Article Anatomy & Morphology

Characterization of the cardiac phenotype in neonatal Ts65Dn mice

Austin D. Williams et al.

DEVELOPMENTAL DYNAMICS (2008)

Article Biochemistry & Molecular Biology

DYRK1A-mediated hyperphosphorylation of Tau - A functional link between Down syndrome and Alzheimer disease

Soo-Ryoon Ryoo et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2007)

Article Neurosciences

Synaptic and cognitive abnormalities in mouse models of down syndrome: Exploring genotype-phenotype relationships

Pavel V. Belichenko et al.

JOURNAL OF COMPARATIVE NEUROLOGY (2007)

Article Hematology

Trisomy of chromosome 21 in leukemogenesis

Shai Izraeli et al.

BLOOD CELLS MOLECULES AND DISEASES (2007)

Article Genetics & Heredity

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)

Article Genetics & Heredity

Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance

Paola Prandini et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2007)

Review Biochemistry & Molecular Biology

What is a gene, post-ENCODE? History and updated definition

Mark B. Gerstein et al.

GENOME RESEARCH (2007)

Article Biochemistry & Molecular Biology

RCAN1 (DSCR1) increases neuronal susceptibility to oxidative stress:: a potential pathogenic process in neurodegeneration

Silvia Porta et al.

HUMAN MOLECULAR GENETICS (2007)

Article Hematology

Loss-of-function JAK3 mutations in TMD and AMKL of Down syndrome

Serena De Vita et al.

BRITISH JOURNAL OF HAEMATOLOGY (2007)

Article Anatomy & Morphology

Effects of aneuploidy on skull growth in a mouse model of Down syndrome

Cheryl A. Hill et al.

JOURNAL OF ANATOMY (2007)

Article Biochemistry & Molecular Biology

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)

Article Neurosciences

Trisomy-driven overexpression of DYRK1A kinase in the brain of subjects with Down syndrome

Wieslaw K. Dowjat et al.

NEUROSCIENCE LETTERS (2007)

Article Neurosciences

Ts65Dn, a mouse model of Down syndrome, exhibits increased GABAB-induced potassium current

Tyler K. Best et al.

JOURNAL OF NEUROPHYSIOLOGY (2007)

Article Biotechnology & Applied Microbiology

Gene expression variation in 'Down syndrome' mice allows prioritization of candidate genes

Marc Sultan et al.

GENOME BIOLOGY (2007)

Article Medicine, General & Internal

Incidence of Down syndrome in Dubai, UAE

Sabita K. Murthy et al.

MEDICAL PRINCIPLES AND PRACTICE (2007)

Article Biochemistry & Molecular Biology

MNB/DYRK1A phosphorylation regulates the interactions of synaptojanin 1 with endocytic accessory proteins

Tatyana Adayev et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2006)

Article Biochemistry & Molecular Biology

Dyrk1A phosphorylates α-synuclein and enhances intracellular inclusion formation

Eun Joo Kim et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2006)

Article Developmental Biology

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)

Review Biochemistry & Molecular Biology

New techniques to understand chromosome dosage: mouse models of aneuploidy

Victor L. J. Tybulewicz et al.

HUMAN MOLECULAR GENETICS (2006)

Article Biochemistry & Molecular Biology

Postnatal lethality and cardiac anomalies in the Ts65Dn Down Syndrome mouse model

Clara S. Moore

MAMMALIAN GENOME (2006)

Article Biochemistry & Molecular Biology

Mitochondrial dysfunction and tau hyperphosphorylation in Ts1Cje, a mouse model for Down syndrome

Ebrahim Abdul Shukkur et al.

HUMAN MOLECULAR GENETICS (2006)

Article Neurosciences

Hippocampal hypocellularity in the Ts65Dn mouse originates early in development

Hernan A. Lorenzi et al.

BRAIN RESEARCH (2006)

Article Oncology

Activating alleles of JAK3 in acute megakaryoblastic leukemia

Denise K. Walters et al.

CANCER CELL (2006)

Article Neurosciences

DYRKIA BAC transgenic mice show altered synaptic plasticity with learning and memory defects

Kyoung-Jin Ahn et al.

NEUROBIOLOGY OF DISEASE (2006)

Article Multidisciplinary Sciences

NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21

Joseph R. Arron et al.

NATURE (2006)

Article Biochemistry & Molecular Biology

RCAN1 (DSCR1 or Adapt78) stimulates expression of GSK-3β

G Ermak et al.

FEBS JOURNAL (2006)

Letter Genetics & Heredity

The incidence patterns of Down syndrome in Qatar

AA Wahab et al.

CLINICAL GENETICS (2006)

Article Multidisciplinary Sciences

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)

Article Multidisciplinary Sciences

An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes

A O'Doherty et al.

SCIENCE (2005)

Article Neurosciences

Abnormal APP, cholinergic and cognitive function in Ts65Dn Down's model mice

HY Seo et al.

EXPERIMENTAL NEUROLOGY (2005)

Review Biochemistry & Molecular Biology

MicroRNAs: Genomics, biogenesis, mechanism, and function

DP Bartel

Review Genetics & Heredity

Chromosome 21 and Down syndrome: From genomics to pathophysiology

SE Antonarakis et al.

NATURE REVIEWS GENETICS (2004)

Article Genetics & Heredity

Mutagenic insertion and chromosome engineering resource (MICER)

DJ Adams et al.

NATURE GENETICS (2004)

Article Clinical Neurology

Minocycline prevents cholinergic loss in a mouse model of Down's syndrome

CL Hunter et al.

ANNALS OF NEUROLOGY (2004)

Article Multidisciplinary Sciences

A chromosome 21 critical region does not cause specific down syndrome phenotypes

LE Olson et al.

SCIENCE (2004)

Article Psychology, Biological

Estrogen restores cognition and cholinergic phenotype in an animal model of Down syndrome

ACE Granholm et al.

PHYSIOLOGY & BEHAVIOR (2002)

Article Genetics & Heredity

Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome

J Wechsler et al.

NATURE GENETICS (2002)

Article Biochemistry & Molecular Biology

Efficient eukaryotic expression system for authentic human sex hormone-binding globulin

J Hilpert et al.

BIOCHEMICAL JOURNAL (2001)

Article Biochemistry & Molecular Biology

Chronic overexpression of the calcineurin inhibitory gene DSCR1 (Adapt78) is associated with Alzheimer's disease

G Ermak et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2001)

Article Multidisciplinary Sciences

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)

Article Biochemistry & Molecular Biology

DSCR1, overexpressed in Down syndrome, is an inhibitor of calcineurin-mediated signaling pathways

JJ Fuentes et al.

HUMAN MOLECULAR GENETICS (2000)