A molecular pathogenesis for transcription factor associated poly-alanine tract expansions (Q45034215)

8 December 2017

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

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8 December 2017

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8 December 2017

Annett Böddrich

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Stefan Mundlos

10

object named as

Stefan Mundlos

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8 December 2017

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Rudi Lurz

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8 December 2017

Andrea N Albrecht

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8 December 2017

Uwe Kornak

2

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8 December 2017

Kathrin Süring

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8 December 2017

Asita C Stiege

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8 December 2017

27 August 2004

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8 December 2017

Human Molecular Genetics

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8 December 2017

2351-2359

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Fourteen and counting: unraveling trinucleotide repeat diseases

8 December 2017

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH277

Alanine tracts: the expanding story of human illness and trinucleotide repeats

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH277

Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH277

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH277

Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH277

A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH277

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH277

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH277

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH277

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH277

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH277

Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH277

The mouse Hoxd13(spdh) mutation, a polyalanine expansion similar to human type II synpolydactyly (SPD), disrupts the function but not the expression of other Hoxd genes

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH277

Synpolydactyly in mice with a targeted deficiency in the HoxD complex

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH277

Aggresomes: a cellular response to misfolded proteins

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH277

Characterization and dynamics of aggresome formation by a cytosolic GFP-chimera

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH277

Molecular chaperones in the cytosol: from nascent chain to folded protein

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH277

Geldanamycin activates a heat shock response and inhibits huntingtin aggregation in a cell culture model of Huntington's disease

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH277

A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH277

The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH277

Dynamic association of proteasomal machinery with the centrosome

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH277

Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH277

Folding proteins in fatal ways

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDH277

Membrane filter assay for detection of amyloid-like polyglutamine-containing protein aggregates.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDH277

21 January 2018

Identifiers

DOI

10.1093/HMG/DDH277

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8 December 2017

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