Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism (Q35677795)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273961%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

title

Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273961%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference

X-linked dystonia-parkinsonism

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273961%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273961%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Satoshi Makino

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273961%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Ryuji Kaji

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273961%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Satoshi Ando

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273961%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Maiko Tomizawa

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273961%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Satoshi Goto

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273961%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Shinnichi Matsumoto

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273961%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Maria Daisy Tabuena

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273961%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Elma Maranon

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273961%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Marita Dantes

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273961%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Lillian V Lee

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273961%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Kazumasa Ogasawara

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273961%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Hiroyasu Akatsu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273961%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Masataka Nishimura

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273961%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

Gen Tamiya

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273961%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

language of work or name

English

0 references

publication date

23 January 2007

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273961%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

25 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273961%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273961%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273961%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

page(s)

393-406

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273961%20AND%20SRC:MED&resulttype=core&format=json

Functional anatomy of the basal ganglia in X-linked recessive dystonia-parkinsonism

25 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821114

SVA elements are nonautonomous retrotransposons that cause disease in humans

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821114

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821114

Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821114

Splicing of a myosin phosphatase targeting subunit 1 alternative exon is regulated by intronic cis-elements and a novel bipartite exonic enhancer/silencer element

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821114

Molecular mechanisms of autosomal recessive hypercholesterolemia

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821114

Sp1 and TAFII130 transcriptional activity disrupted in early Huntington's disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821114

Sex linked recessive dystonia parkinsonism of Panay, Philippines (XDP)

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821114

TAF(II)250: a transcription toolbox

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821114

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821114

Tsix, a gene antisense to Xist at the X-inactivation centre

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821114

An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821114

The p250 subunit of native TATA box-binding factor TFIID is the cell-cycle regulatory protein CCG1.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821114

Structure and genetics of the partially duplicated gene RP located immediately upstream of the complement C4A and the C4B genes in the HLA class III region. Molecular cloning, exon-intron structure, composite retroposon, and breakpoint of gene dupli

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821114

Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821114

Induction of ectopic eyes by targeted expression of the eyeless gene in Drosophila

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821114

Cloning and expression of human TAFII250: a TBP-associated factor implicated in cell-cycle regulation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821114

Assignment of the dystonia-parkinsonism syndrome locus, DYT3, to a small region within a 1.8-Mb YAC contig of Xq13.1.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821114

Expression of a β-globin gene is enhanced by remote SV40 DNA sequences

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821114

A muscle-specific enhancer is located at the 3' end of the myosin light-chain 1/3 gene locus

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821114

Regulatory elements in the 5'-flanking region and the first intron contribute to transcriptional control of the mouse alpha 1 type I collagen gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821114

Genetic mapping of "Lubag" (X-linked dystonia-parkinsonism) in a Filipino kindred to the pericentromeric region of the X chromosome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821114

Oct2 transactivation from a remote enhancer position requires a B-cell-restricted activity

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821114

Torsion dystonia in Panay, Philippines

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821114

Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism (DYT3).

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821114

Suppression of aggregate formation and apoptosis by transglutaminase inhibitors in cells expressing truncated DRPLA protein with an expanded polyglutamine stretch.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821114

Neuropathology of lubag (x-linked dystonia parkinsonism).

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821114

Three Unusual Repair Deficiencies Associated with Transcription Factor BTF2(TFIIH): Evidence for the Existence of a Transcription Syndrome

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821114

A tissue-specific transcription enhancer element is located in the major intron of a rearranged immunoglobulin heavy chain gene

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1821114

Classification of dystonia

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17273961

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/512129

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273961%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273961%20AND%20SRC:MED&resulttype=core&format=json

25 December 2019

PubMed publication ID

17273961

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17273961%20AND%20SRC:MED&resulttype=core&format=json