(Q61058447)

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Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis

scientific article published on 01 July 2005

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12 January 2020

Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis (English)

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12 January 2020

Antonio Marchini

2

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12 January 2020

Margaret L. Lawson

8

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12 January 2020

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Nitin Sabherwal

3

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12 January 2020

Ralph Röth

4

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12 January 2020

Beate Niesler

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12 January 2020

Tiina Marttila

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12 January 2020

Miroslav Dumic

9

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12 January 2020

Gudrun Rappold

10

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12 January 2020

Katja U Schneider

1

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12 January 2020

Rüdiger J Blaschke

7

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12 January 2020

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1 July 2005

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12 January 2020

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12 January 2020

26

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12 January 2020

1

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12 January 2020

44-52

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12 January 2020

Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

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Molecular evolution of the homeodomain family of transcription factors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

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Dimerization of SOX9 is required for chondrogenesis, but not for sex determination

1 reference

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7 January 2021

based on heuristic

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Determination of the nuclear magnetic resonance solution structure of an Antennapedia homeodomain-DNA complex

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

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Homeobox genes and cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

PHOG, a candidate gene for involvement in the short stature of Turner syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

SHOX point mutations and deletions in Leri-Weill dyschondrosteosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

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A novel genetic system to detect protein-protein interactions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

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Evolution of homeobox genes: Q50 Paired-like genes founded the Paired class

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

Homeodomain proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

Homeodomain-DNA recognition

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

Sequence-specific targeting of nuclear signal transduction pathways by homeodomain proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

DNA recognition by proteins with the helix-turn-helix motif

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

SHOX point mutations in dyschondrosteosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

Crystal structure of an engrailed homeodomain-DNA complex at 2.8 A resolution: a framework for understanding homeodomain-DNA interactions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

Transport into and out of the nucleus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

The short stature homeodomain protein SHOX induces cellular growth arrest and apoptosis and is expressed in human growth plate chondrocytes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

Expression of SHOX in human fetal and childhood growth plate

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

Transcription factors and cancer: an overview

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

The human SHOX mutation database

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

SHOX nullizygosity and haploinsufficiency in a Japanese family: implication for the development of Turner skeletal features

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

The structure of the Antennapedia homeodomain determined by NMR spectroscopy in solution: comparison with prokaryotic repressors.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

Phenotypes Associated with SHOX Deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a dominant negative homeodomain mutation in Rieger syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

Impairment of SHOX nuclear localization as a cause for Léri-Weill syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri-Weill dyschondrosteosis and Langer dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

SHOX mutations detected by FISH and direct sequencing in patients with short stature

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

Cooperative dimerization of paired class homeo domains on DNA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

High resolution crystal structure of a paired (Pax) class cooperative homeodomain dimer on DNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

Conservation and diversification in homeodomain-DNA interactions: a comparative genetic analysis

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Crystal structure of a MAT alpha 2 homeodomain-operator complex suggests a general model for homeodomain-DNA interactions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

Homeodomain interactions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

CompleteSHOX deficiency causes Langer mesomelic dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20187

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20187

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15931687%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15931687%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

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