Chromosome 21 and down syndrome: from genomics to pathophysiology (Q28290257)

Europe PubMed Central

title

Chromosome 21 and down syndrome: from genomics to pathophysiology (English)

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Stilianos Antonarakis

object named as

Stylianos E Antonarakis

1

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Alexandre Reymond

4

object named as

Alexandre Reymond

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Emmanouil Dermitzakis

3

object named as

Emmanouil T Dermitzakis

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author name string

Robert Lyle

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Samuel Deutsch

A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly

5

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language of work or name

English

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publication date

October 2004

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published in

Nature Reviews Genetics

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volume

5

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issue

10

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page(s)

725-38

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cites work

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The DNA sequence of human chromosome 21

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Initial sequencing and analysis of the human genome

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The Sequence of the Human Genome

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From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map

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Nineteen additional unpredicted transcripts from human chromosome 21

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The sequence of human chromosome 21 and implications for research into Down syndrome

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Large-scale transcriptional activity in chromosomes 21 and 22

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Novel RNAs identified from an in-depth analysis of the transcriptome of human chromosomes 21 and 22

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Unbiased mapping of transcription factor binding sites along human chromosomes 21 and 22 points to widespread regulation of noncoding RNAs

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Initial sequencing and comparative analysis of the mouse genome

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Down's syndrome-like skeletal abnormalities in Ets2 transgenic mice

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Global up-regulation of chromosome 21 gene expression in the developing down syndrome brain

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Transformation of axial skeleton due to overexpression of bmi-1 in transgenic mice

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Molecular fossils in the human genome: identification and analysis of the pseudogenes in chromosomes 21 and 22

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A high-resolution recombination map of the human genome

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Recent segmental duplications in the human genome

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To err (meiotically) is human: the genesis of human aneuploidy

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Comparative analyses of multi-species sequences from targeted genomic regions

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A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.

21 April 2017

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Assembly of microarrays for genome-wide measurement of DNA copy number

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Molecular mechanisms for genomic disorders

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Premature arrest of myelin formation in transgenic mice with increased proteolipid protein gene dosage

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Chromosome aberrations in solid tumors

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10 years of Genomics, chromosome 21, and Down syndrome

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Parental origin and timing of de novo Robertsonian translocation formation

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The neuropsychology of Down syndrome: evidence for hippocampal dysfunction

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Mouse models of Down syndrome: how useful can they be? Comparison of the gene content of human chromosome 21 with orthologous mouse genomic regions

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A cluster of 21 keratin-associated protein genes within introns of another gene on human chromosome 21q22.3.

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A comparison of whole-genome shotgun-derived mouse chromosome 16 and the human genome.

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DNA sequence and comparative analysis of chimpanzee chromosome 22.

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Numerous potentially functional but non-genic conserved sequences on human chromosome 21

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Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment

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Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs).

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The dog genome: survey sequencing and comparative analysis.

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Noncoding sequences conserved in a limited number of mammals in the SIM2 interval are frequently functional

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Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21.

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Transcript level alterations reflect gene dosage effects across multiple tissues in a mouse model of down syndrome

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A mouse model for Down syndrome exhibits learning and behaviour deficits.

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Discovery and genetic localization of Down syndrome cerebellar phenotypes using the Ts65Dn mouse.

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Motor dysfunction in a mouse model for Down syndrome.

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Impaired short- and long-term memory in Ts65Dn mice, a model for Down syndrome.

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Murine models for Down syndrome

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Parallels of craniofacial maldevelopment in Down syndrome and Ts65Dn mice.

21 January 2018

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Failed retrograde transport of NGF in a mouse model of Down's syndrome: reversal of cholinergic neurodegenerative phenotypes following NGF infusion

21 January 2018

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Ts1Cje, a partial trisomy 16 mouse model for Down syndrome, exhibits learning and behavioral abnormalities

21 January 2018

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Mice containing a human chromosome 21 model behavioral impairment and cardiac anomalies of Down's syndrome.

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Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome

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Human chromosome 21 gene expression atlas in the mouse.

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A gene expression map of human chromosome 21 orthologues in the mouse

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Global disruption of the cerebellar transcriptome in a Down syndrome mouse model.

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The mouse brain transcriptome by SAGE: differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals

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Down syndrome congenital heart disease: a narrowed region and a candidate gene

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Measurement of locus copy number by hybridisation with amplifiable probes

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Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA).

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Mechanisms of the effects of aneuploidy in mammals

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Alternate stoichiometries of alpha4beta2 nicotinic acetylcholine receptors

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Functional identification of the mouse circadian Clock gene by transgenic BAC rescue

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The choice of cell fate in the epidermis of Drosophila.

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Human ABCA1 BAC transgenic mice show increased high density lipoprotein cholesterol and ApoAI-dependent efflux stimulated by an internal promoter containing liver X receptor response elements in intron 1.

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The gradient morphogen bicoid is a concentration-dependent transcriptional activator.

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Gene expression analyzed by high-resolution state array analysis and quantitative proteomics: response of yeast to mating pheromone

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A high-resolution physical map of human chromosome 21p using yeast artificial chromosomes

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Patterns of Meiotic Recombination on the Long Arm of Human Chromosome 21

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A comprehensive analysis of allelic methylation status of CpG islands on human chromosome 21q

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Down syndrome mouse models Ts65Dn, Ts1Cje, and Ms1Cje/Ts65Dn exhibit variable severity of cerebellar phenotypes.

21 January 2018

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Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome

21 January 2018

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Heterotrisomy, a significant contributing factor to ventricular septal defect associated with Down syndrome?

21 January 2018

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Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

21 January 2018

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Proteolipid protein gene dosage effect in Pelizaeus-Merzbacher disease

31 March 2020

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Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage

31 March 2020

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Use of comparative physical and sequence mapping to annotate mouse chromosome 16 and human chromosome 21

31 March 2020

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Hair keratin associated proteins: characterization of a second high sulfur KAP gene domain on human chromosome 21.

31 March 2020

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Genetic dissection of region associated with behavioral abnormalities in mouse models for Down syndrome

31 March 2020

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Partial IFN-alpha/beta and IFN-gamma receptor knockout trisomy 16 mouse fetuses show improved growth and cultured neuron viability

31 March 2020

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Transgenic mice with increased Cu/Zn-superoxide dismutase activity: animal model of dosage effects in Down syndrome

31 March 2020

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Transcriptome analysis of human autosomal trisomy

31 March 2020

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Down syndrome phenotypes: the consequences of chromosomal imbalance

31 March 2020

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Molecular mapping of twenty-four features of Down syndrome on chromosome 21.

31 March 2020

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A tiling resolution DNA microarray with complete coverage of the human genome

31 March 2020

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Trisomy 21: Mechanisms and Models

31 March 2020

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Normal stoichiometry of histone dimer sets is necessary for high fidelity of mitotic chromosome transmission

31 March 2020

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Four pharmacologically distinct subtypes of alpha4beta2 nicotinic acetylcholine receptor expressed in Xenopus laevis oocytes.

31 March 2020

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Cell-type-specific and hypoxia-inducible expression of the human erythropoietin gene in transgenic mice

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Kinetics of homophilic binding by embryonic and adult forms of the neural cell adhesion molecule

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Human ribosomal RNA genes: orientation of the tandem array and conservation of the 5' end.

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31 March 2020

Identifiers

DOI

10.1038/NRG1448

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Consolidated OpenCitations Corpus – April 2017

Dimensions Publication ID

971889

1043277982

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Fatcat ID

release_6s4etrxmlbcuzocszbntnfdkaq

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971889

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference