(Q33927314)

30 July 2017

title

Ohnologs in the human genome are dosage balanced and frequently associated with disease (English)

1 reference

30 July 2017

2

1 reference

30 July 2017

Takashi Makino

1

0 references

language of work or name

English

0 references

publication date

3 May 2010

1 reference

Proceedings of the National Academy of Sciences of the United States of America

30 July 2017

published in

1 reference

30 July 2017

volume

107

1 reference

30 July 2017

issue

20

1 reference

30 July 2017

page(s)

9270-9274

1 reference

Down syndrome--recent progress and future prospects

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

Trisomy 21 and Down syndrome: a short review.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

Cellular reactions to gene dosage imbalance: genomic, transcriptomic and proteomic effects

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

The functional impact of structural variation in humans

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

The evolutionary consequences of polyploidy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

Natural history and evolutionary principles of gene duplication in fungi

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

The diploid genome sequence of an individual human

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

Classification of human chromosome 21 gene-expression variations in Down syndrome: impact on disease phenotypes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

Reconstruction of the vertebrate ancestral genome reveals dynamic genome reorganization in early vertebrates

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

Challenges and standards in integrating surveys of structural variation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

Gene duplication: a drive for phenotypic diversity and cause of human disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

Relative impact of nucleotide and copy number variation on gene expression phenotypes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

Global variation in copy number in the human genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

Global trends of whole-genome duplications revealed by the ciliate Paramecium tetraurelia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

Gene-balanced duplications, like tetraploidy, provide predictable drive to increase morphological complexity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

Gene loss and evolutionary rates following whole-genome duplication in teleost fishes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

Cell type-specific over-expression of chromosome 21 genes in fibroblasts and fetal hearts with trisomy 21.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

Bias of selection on human copy-number variants

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

Primary and secondary transcriptional effects in the developing human Down syndrome brain and heart

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

Two rounds of whole genome duplication in the ancestral vertebrate

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

Transcriptional consequences of autosomal trisomy: primary gene dosage with complex downstream effects

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

Modeling gene and genome duplications in eukaryotes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

Paralogs in polyploids: one for all and all for one?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

Chromosome 21 and down syndrome: from genomics to pathophysiology

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

A chromosome 21 critical region does not cause specific Down syndrome phenotypes.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

A common framework for understanding the origin of genetic dominance and evolutionary fates of gene duplications

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

Organismal complexity, protein complexity, and gene duplicability

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

Dosage sensitivity and the evolution of gene families in yeast

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

Extensive genomic duplication during early chordate evolution

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

The gain and loss of genes during 600 million years of vertebrate evolution

5 July 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0914697107

Early vertebrate whole genome duplications were predated by a period of intense genome rearrangement

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0914697107

The complex relationship of gene duplication and essentiality.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0914697107

All duplicates are not equal: the difference between small-scale and genome duplication

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0914697107

Genome duplication led to highly selective expansion of the Arabidopsis thaliana proteome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0914697107

Common deletion polymorphisms in the human genome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0914697107

Parallels of craniofacial maldevelopment in Down syndrome and Ts65Dn mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0914697107

Blood expression profiles for tuberous sclerosis complex 2, neurofibromatosis type 1, and Down's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0914697107

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0914697107

Dosage-dependent over-expression of genes in the trisomic region of Ts1Cje mouse model for Down syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0914697107

The cerebellar transcriptome during postnatal development of the Ts1Cje mouse, a segmental trisomy model for Down syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0914697107

Highly consistent patterns for inherited human diseases at the molecular level.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0914697107

Gene dosage balance in cellular pathways: implications for dominance and gene duplicability

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2889102

Nonlinear effects in macromolecular assembly and dosage sensitivity

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20439718

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Exploring the etiology of haploinsufficiency

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20439718

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Candidate gene analysis of 21q22: support for S100B as a susceptibility gene for bipolar affective disorder with psychosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20439718

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.0914697107

1 reference

30 July 2017

0 references

1 reference

30 July 2017

1 reference