(Q35591696)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21712857%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

title

Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia (English)

1 reference

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6 February 2020

3

1 reference

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6 February 2020

D. Heine-Suñer

4

1 reference

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6 February 2020

Jesús Argente

14

1 reference

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6 February 2020

Karen E Heath

19

1 reference

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6 February 2020

15

Luba Kalaydjieva

1 reference

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6 February 2020

author name string

Verónica Barca-Tierno

1

1 reference

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6 February 2020

Miriam Aza-Carmona

2

1 reference

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6 February 2020

Dimitar Azmanov

5

1 reference

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6 February 2020

Jordi Rosell

6

1 reference

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6 February 2020

Begoña Ezquieta

7

1 reference

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6 February 2020

Lucia Sentchordi Montané

8

1 reference

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6 February 2020

Teresa Vendrell

9

1 reference

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6 February 2020

Jaime Cruz

10

1 reference

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6 February 2020

Fernando Santos

11

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6 February 2020

José Ignacio Rodríguez

12

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6 February 2020

Jesús Pozo

13

1 reference

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6 February 2020

Ricardo Gracía

16

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6 February 2020

Angel Campos-Barros

17

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6 February 2020

Sara Benito-Sanz

18

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6 February 2020

language of work or name

English

0 references

publication date

29 June 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21712857%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

6 February 2020

published in

1 reference

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6 February 2020

volume

19

1 reference

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6 February 2020

issue

12

1 reference

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6 February 2020

page(s)

1218-1225

1 reference

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https://scigraph.springernature.com/pub.10.1038/ejhg.2011.128

6 February 2020

exact match

0 references

cites work

SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230364

Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230364

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230364

Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230364

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230364

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230364

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230364

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230364

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230364

Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS).

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230364

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230364

Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230364

A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230364

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230364

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230364

Histopathological analysis of Leri-Weill dyschondrosteosis: disordered growth plate.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3230364

Sjögren-Larsson syndrome: diversity of mutations and polymorphisms in the fatty aldehyde dehydrogenase gene (ALDH3A2).

26 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.128

Compound heterozygosity ofSHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD)

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.128

Mesomelic Dwarfism of the Hypoplastic Ulna, Fibula, Mandible Type

21 January 2018

1 reference

12 December 2020

Ultrasonographic prenatal diagnosis and fetal pathology of Langer mesomelic dwarfism

1 reference

12 December 2020

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

1 reference

12 December 2020

Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer

1 reference

12 December 2020

PAR1 deletions downstream ofSHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands

1 reference

12 December 2020

The homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2011.128

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21712857%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21712857%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

PubMed publication ID

21712857

1 reference