Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia (Q24307380)

6

0 references

Chad Shaw

3

object named as

Chad A Shaw

0 references

Huda Zoghbi

object named as

Huda Y Zoghbi

7

0 references

author name string

Juliette J Kahle

1

0 references

Natali Gulbahce

2

0 references

Janghoo Lim

4

0 references

David E Hill

describes a project that uses

5

0 references

language of work or name

English

0 references

publication date

1 February 2011

0 references

published in

Human Molecular Genetics

0 references

volume

20

0 references

page(s)

510-27

0 references

issue

3

0 references

Cytoscape

1 reference

Europe PubMed Central

9 June 2022

https://europepmc.org/search?query=(METHODS:'Cytoscape')

inferred from PubMed Central ID database lookup

ImageJ

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3016911/fullTextXML

inferred from PubMed Central ID database lookup

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Cloning of a transcriptionally active human TATA binding factor

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Both normal and polyglutamine- expanded ataxin-7 are components of TFTC-type GCN5 histone acetyltransferase- containing complexes

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19 March 2017

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19 March 2017

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19 March 2017

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Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue

19 March 2017

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THG-1pit moves to nucleus at the onset of cerebellar granule neurons apoptosis

19 March 2017

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Nuclear receptor TLX prevents retinal dystrophy and recruits the corepressor atrophin1

19 March 2017

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Cloning and expression analysis of the murine homolog of the spinocerebellar ataxia type 7 (SCA7) gene

19 March 2017

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Trinucleotide Repeat Disorders

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A map of the interactome network of the metazoan C. elegans

7 April 2017

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Network-based classification of breast cancer metastasis

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Evidence for dynamically organized modularity in the yeast protein-protein interaction network

7 April 2017

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7 April 2017

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A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice

27 September 2017

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Loss of yata, a novel gene regulating the subcellular localization of APPL, induces deterioration of neural tissues and lifespan shortening

27 September 2017

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Dynamic modularity in protein interaction networks predicts breast cancer outcome

27 September 2017

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Atrophin proteins: an overview of a new class of nuclear receptor corepressors

27 September 2017

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Altered expression of HSPA5, HSPA8 and PARK7 in spinocerebellar ataxia type 17 identified by 2-dimensional fluorescence difference in gel electrophoresis

27 September 2017

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Atrophins' emerging roles in development and neurodegenerative disease

27 September 2017

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27 September 2017

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Deletion of Mecp2 in Sim1-expressing neurons reveals a critical role for MeCP2 in feeding behavior, aggression, and the response to stress.

27 September 2017

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Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant CaV2.1 channels

27 September 2017

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Molecular pathogenesis and cellular pathology of spinocerebellar ataxia type 7 neurodegeneration

27 September 2017

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Protein networks in disease

27 September 2017

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Proteolytic cleavage of ataxin-7 by caspase-7 modulates cellular toxicity and transcriptional dysregulation

27 September 2017

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27 September 2017

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The importance of bottlenecks in protein networks: correlation with gene essentiality and expression dynamics

27 September 2017

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CARMA3 deficiency abrogates G protein-coupled receptor-induced NF-{kappa}B activation

27 September 2017

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Familial cavitary optic disk anomalies: identification of a novel genetic locus.

27 September 2017

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Crim1KST264/KST264 mice display a disruption of the Crim1 gene resulting in perinatal lethality with defects in multiple organ systems

27 September 2017

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Transcriptional alterations and chromatin remodeling in polyglutamine diseases.

27 September 2017

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Aberrant accumulation of fibulin-3 in the endoplasmic reticulum leads to activation of the unfolded protein response and VEGF expression

27 September 2017

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Diseases of unstable repeat expansion: mechanisms and common principles

27 September 2017

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Intranuclear organization and function of the androgen receptor

27 September 2017

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Genetic linkage analysis of a novel syndrome comprising North Carolina-like macular dystrophy and progressive sensorineural hearing loss

27 September 2017

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A transcriptome atlas of the mouse brain at cellular resolution

27 September 2017

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Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation.

27 September 2017

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Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice

27 September 2017

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Fine localisation of the gene for central areolar choroidal dystrophy on chromosome 17p.

27 September 2017

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A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome

27 September 2017

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Familial spinocerebellar degeneration with corneal dystrophy

27 September 2017

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Autosomally inherited recessive spastic ataxia, macular corneal dystrophy, congenital cataracts, myopia and vertically oval temporally tilted discs. Report of a Bedouin family--a new syndrome

27 September 2017

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Localization of laminin B1 mRNA in retinal ganglion cells by in situ hybridization

27 September 2017

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Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

27 September 2017

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Purkinje cell degeneration, a new neurological mutation in the mouse

27 September 2017

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Cerebellar Purkinje cell markers are expressed in retinal bipolar neurons

27 September 2017

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Gene expression profiling of TGFbeta2- and/or BMP7-treated trabecular meshwork cells: Identification of Smad7 as a critical inhibitor of TGF-beta2 signaling.

27 September 2017

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Ataxin-7 can export from the nucleus via a conserved exportin-dependent signal.

30 May 2018

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Elucidation of ataxin-3 and ataxin-7 function by integrative bioinformatics

30 May 2018

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Identification and localization of ataxin-7 in brain and retina of a patient with cerebellar ataxia type II using anti-peptide antibody.

30 May 2018

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Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion.

30 May 2018

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Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p.

30 May 2018

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Polyunsaturated fatty acid lipidosis infantile form of so-called neuronal ceroidlipofuscinosis.

30 May 2018

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Genetic address book for retinal cell types

30 May 2018

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The impact of cellular networks on disease comorbidity

29 November 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016911

Align human interactome with phenome to identify causative genes and networks underlying disease families.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016911

The art of community detection.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016911

The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016911

Formation and progression of sub-retinal pigment epithelium deposits in Efemp1 mutation knock-in mice: a model for the early pathogenic course of macular degeneration.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016911

Familial cavitary optic disk anomalies: clinical features of a large family with examples of progressive optic nerve head cupping.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016911

Gene expression changes in the retina following optic nerve transection.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016911

ATAXIN-1 interacts with the repressor Capicua in its native complex to cause SCA1 neuropathology.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016911

A novel locus on 19q13 associated with autosomal-dominant macular dystrophy in a large Greek family

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016911

Knockdown of zebrafish crim1 results in a bent tail phenotype with defects in somite and vascular development.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016911

Selective degeneration and nuclear localization of mutant huntingtin in the YAC128 mouse model of Huntington disease

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016911

Comprehensive expression atlas of fibroblast growth factors and their receptors generated by a novel robotic in situ hybridization platform.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016911

A third locus for dominant optic atrophy on chromosome 22q.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016911

A new phenotype of recessively inherited foveal hypoplasia and anterior segment dysgenesis maps to a locus on chromosome 16q23.2-24.2.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016911

Genomewide homozygosity mapping and molecular analysis of a candidate gene located on 22q13 (fibulin-1) in a previously undescribed vitreoretinal dystrophy

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016911

Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016911

An early-onset autosomal dominant macular dystrophy (MCDR3) resembling North Carolina macular dystrophy maps to chromosome 5.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016911

Cholinergic and dopaminergic amacrine cells differentially express calcium channel subunits in the rat retina

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016911

SCA7 knockin mice model human SCA7 and reveal gradual accumulation of mutant ataxin-7 in neurons and abnormalities in short-term plasticity.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016911

Hypogonadotrophic hypogonadism, short stature, cerebellar ataxia, rod-cone retinal dystrophy, and hypersegmented neutrophils: a novel disorder or a new variant of Boucher-Neuhauser syndrome?

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016911

Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016911

The HD mutation causes progressive lethal neurological disease in mice expressing reduced levels of huntingtin.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016911

Ataxin-7 expression analysis in controls and spinocerebellar ataxia type 7 patients

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016911

Expression of Crim1 during murine ocular development.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016911

Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016911

Localisation of a gene for central areolar choroidal dystrophy to chromosome 17p.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016911

The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3016911

Expression analysis of ataxin-7 mRNA and protein in human brain: evidence for a widespread distribution and focal protein accumulation

29 November 2018

1 reference

12 December 2020

Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13

1 reference

12 December 2020

Cone-rod retinal dystrophy in a patient with neurofibromatosis type 1

1 reference

12 December 2020

Conserved Phosphoprotein Interaction Motif Is Functionally Interchangeable between Ataxin-7 and Arrestins†

1 reference

12 December 2020

SCA7 mouse models show selective stabilization of mutant ataxin-7 and similar cellular responses in different neuronal cell types

1 reference

12 December 2020

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q

1 reference

12 December 2020

Distribution of ataxin-7 in normal human brain and retina

1 reference

12 December 2020

Obtaining Confidence Intervals for the Risk Ratio in Cohort Studies

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ496

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1093/HMG/DDQ496

1 reference

836659

836659

1 reference

1 reference

1 reference