SHOX at a glance: from gene to protein (Q36964565)

17 August 2017

1 reference

title

SHOX at a glance: from gene to protein (English)

1 reference

17 August 2017

Antonio Marchini

1

1 reference

PubMed ID

17922307

17 August 2017

Gudrun Rappold

series ordinal

2

1 reference

PubMed ID

17922307

17 August 2017

Katja U Schneider

series ordinal

3

1 reference

17 August 2017

1 June 2007

1 reference

Archives of Physiology and Biochemistry

17 August 2017

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17 August 2017

113

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17 August 2017

3

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17 August 2017

116-123

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Molecular evolution of the homeodomain family of transcription factors

17 August 2017

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

Targeted mutation reveals essential functions of the homeodomain transcription factor Shox2 in sinoatrial and pacemaking development

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

SHOX: growth, Léri-Weill and Turner syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

Homeobox genes and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

Homeodomain revisited: a lesson from disease-causing mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

A mouse model for human short-stature syndromes identifies Shox2 as an upstream regulator of Runx2 during long-bone development

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

SHOX intragenic microsatellite analysis in patients with short stature

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

SHOX point mutations and deletions in Leri-Weill dyschondrosteosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

rax, a novel paired-type homeobox gene, shows expression in the anterior neural fold and developing retina

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

Identification and characterization of different SHOX gene deletions in patients with Leri-Weill dyschondrosteosys by MLPA assay

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

Homeodomain-DNA recognition

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

Molecular genetic basis of the human chondrodysplasias

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

SHOX point mutations in dyschondrosteosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

High incidence of SHOX anomalies in individuals with short stature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

Genetic Analysis of Short Stature

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

Transport into and out of the nucleus

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

Phosphorylation on Ser106 modulates the cellular functions of the SHOX homeodomain protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

Nucleocytoplasmic transport: the soluble phase

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

NLSdb: database of nuclear localization signals

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

SHOX: pseudoautosomal homeobox containing gene for short stature and dyschondrosteosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

Short arm rearrangements of sex chromosomes with haploinsufficiency of the SHOX gene are associated with Leri-Weill dyschondrosteosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

Long-range conserved non-coding SHOX sequences regulate expression in developing chicken limb and are associated with short stature phenotypes in human patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

A new human homeobox gene OGI2X is a member of the most conserved homeobox gene family and is expressed during heart development in mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

The human Y chromosome: a 43-interval map based on naturally occurring deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

Cooperative dimerization of paired class homeo domains on DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

Homeodomain proteins. Cooperating to be different

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

21 January 2018

Homeodomain interactions

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

Shox2-deficient mice exhibit a rare type of incomplete clefting of the secondary palate

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

SHOXHaploinsufficiency and Leri-Weill Dyschondrosteosis: Prevalence and Growth Failure in Relation to Mutation, Sex, and Degree of Wrist Deformity

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

CompleteSHOX deficiency causes Langer mesomelic dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

Analysis of short stature homeobox-containing gene ( SHOX ) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F13813450701531201

10.1080/13813450701531201

21 January 2018

Identifiers

DOI

1 reference

17 August 2017

1 reference

PubMed ID

17922307