Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia. (Q35591696)

From Wikidata

Jump to navigation Jump to search

scientific article published on 29 June 2011

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

Language	Label	Description	Also known as
English	Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.	scientific article published on 29 June 2011	Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

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

6 February 2020

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

1 reference

Europe PubMed Central

PMC publication ID

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

6 February 2020

3

1 reference

Europe PubMed Central

PMC publication ID

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

6 February 2020

D. Heine-Suñer

4

1 reference

Europe PubMed Central

PMC publication ID

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

6 February 2020

14

1 reference

Europe PubMed Central

PMC publication ID

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

6 February 2020

19

1 reference

Europe PubMed Central

PMC publication ID

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

6 February 2020

Luba Kalaydjieva

15

object named as

Luba Kalaydjieva

1 reference

Europe PubMed Central

PMC publication ID

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

6 February 2020

author name string

Verónica Barca-Tierno

1

1 reference

Europe PubMed Central

PMC publication ID

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

6 February 2020

Miriam Aza-Carmona

2

1 reference

Europe PubMed Central

PMC publication ID

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

6 February 2020

Dimitar Azmanov

5

1 reference

Europe PubMed Central

PMC publication ID

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

6 February 2020

Jordi Rosell

6

1 reference

Europe PubMed Central

PMC publication ID

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

6 February 2020

Begoña Ezquieta

7

1 reference

Europe PubMed Central

PMC publication ID

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

6 February 2020

Lucia Sentchordi Montané

8

1 reference

Europe PubMed Central

PMC publication ID

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

6 February 2020

Teresa Vendrell

9

1 reference

Europe PubMed Central

PMC publication ID

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

6 February 2020

Jaime Cruz

10

1 reference

Europe PubMed Central

PMC publication ID

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

6 February 2020

Fernando Santos

11

1 reference

Europe PubMed Central

PMC publication ID

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

6 February 2020

José Ignacio Rodríguez

12

1 reference

Europe PubMed Central

PMC publication ID

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

6 February 2020

Jesús Pozo

13

1 reference

Europe PubMed Central

PMC publication ID

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

6 February 2020

Ricardo Gracía

16

1 reference

Europe PubMed Central

PMC publication ID

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

6 February 2020

Angel Campos-Barros

17

1 reference

Europe PubMed Central

PMC publication ID

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

6 February 2020

Sara Benito-Sanz

18

1 reference

Europe PubMed Central

PMC publication ID

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

6 February 2020

language of work or name

0 references

publication date

29 June 2011

1 reference

Europe PubMed Central

PMC publication ID

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

6 February 2020

European Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

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

6 February 2020

19

1 reference

Europe PubMed Central

PMC publication ID

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

6 February 2020

12

1 reference

Europe PubMed Central

PMC publication ID

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

6 February 2020

1218-1225

1 reference

Europe PubMed Central

PMC publication ID

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

6 February 2020

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

27 July 2018

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

1 reference

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

27 July 2018

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

27 July 2018

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

1 reference

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

27 July 2018

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

1 reference

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

27 July 2018

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

1 reference

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

27 July 2018

SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)

1 reference

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

27 July 2018

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

1 reference

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

27 July 2018

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

1 reference

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

27 July 2018

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

1 reference

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

26 September 2018

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

1 reference

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

26 September 2018

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

1 reference

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

26 September 2018

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

1 reference

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

26 September 2018

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

1 reference

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

26 September 2018

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

1 reference

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

26 September 2018

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

1 reference

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

26 September 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

Mesomelic Dwarfism of the Hypoplastic Ulna, Fibula, Mandible Type

1 reference

https://pubmed.ncbi.nlm.nih.gov/21712857

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ultrasonographic prenatal diagnosis and fetal pathology of Langer mesomelic dwarfism

1 reference

https://pubmed.ncbi.nlm.nih.gov/21712857

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21712857

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/21712857

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21712857

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21712857

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/EJHG.2011.128

1 reference

Europe PubMed Central

PMC publication ID

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

6 February 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

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

1 reference

Europe PubMed Central

PMC publication ID

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

6 February 2020

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q35591696&oldid=2197518984"