Mechanistic insight into the pathology of polyalanine expansion disorders revealed by a mouse model for X linked hypopituitarism (Q34625379)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23505376%20AND%20SRC:MED&resulttype=core&format=json

26 February 2020

title

Mechanistic insight into the pathology of polyalanine expansion disorders revealed by a mouse model for X linked hypopituitarism (English)

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26 February 2020

3

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26 February 2020

author name string

James Hughes

1

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26 February 2020

Sandra Piltz

2

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26 February 2020

Dale McAninch

4

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26 February 2020

Lynn Rowley

5

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26 February 2020

Paul Thomas

6

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26 February 2020

publication date

7 March 2013

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26 February 2020

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26 February 2020

volume

9

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26 February 2020

issue

3

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26 February 2020

page(s)

e1003290

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Creative Commons Attribution 4.0 International

26 February 2020

copyright license

start time

7 March 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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The other trinucleotide repeat: polyalanine expansion disorders

7 July 2018

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Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism

7 July 2018

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A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death

7 July 2018

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SOX3 is required during the formation of the hypothalamo-pituitary axis

7 July 2018

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Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model

7 July 2018

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Polyalanine expansion mutations in the X-linked hypopituitarism gene SOX3 result in aggresome formation and impaired transactivation.

21 January 2018

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A molecular pathogenesis for transcription factor associated poly-alanine tract expansions

21 January 2018

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Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice

21 January 2018

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Increased transactivation associated with SOX3 polyalanine tract deletion in a patient with hypopituitarism.

21 January 2018

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10.1371/JOURNAL.PGEN.1003290

21 January 2018

Identifiers

DOI

1 reference

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26 February 2020

1 reference

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26 February 2020

PubMed publication ID

23505376

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23505376%20AND%20SRC:MED&resulttype=core&format=json