(Q43256913)

English

A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb

scientific article published in January 2010

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

17 November 2017

A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb (English)

1 reference

Europe PubMed Central

17 November 2017

0 references

1 reference

based on heuristic

inferred from title

11

object named as

Bernd Wollnik

1 reference

Europe PubMed Central

17 November 2017

author name string

Dagmar Wieczorek

1

1 reference

Europe PubMed Central

17 November 2017

Barbara Pawlik

2

1 reference

Europe PubMed Central

17 November 2017

Yun Li

3

1 reference

Europe PubMed Central

17 November 2017

Nurten A Akarsu

4

1 reference

Europe PubMed Central

17 November 2017

Almuth Caliebe

5

1 reference

Europe PubMed Central

17 November 2017

Klaus J W May

6

1 reference

Europe PubMed Central

17 November 2017

Bernd Schweiger

7

1 reference

Europe PubMed Central

17 November 2017

Fernando R Vargas

8

1 reference

Europe PubMed Central

17 November 2017

Sevim Balci

9

1 reference

Europe PubMed Central

17 November 2017

Gabriele Gillessen-Kaesbach

10

1 reference

Europe PubMed Central

17 November 2017

language of work or name

1 reference

based on heuristic

inferred from title

publication date

1 January 2010

1 reference

Europe PubMed Central

17 November 2017

1 reference

Europe PubMed Central

17 November 2017

31

1 reference

Europe PubMed Central

17 November 2017

81-89

1 reference

Europe PubMed Central

17 November 2017

1

1 reference

Europe PubMed Central

17 November 2017

How to make a zone of polarizing activity: insights into limb development via the abnormality preaxial polydactyly

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21142

21 January 2018

Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21142

7 January 2021

based on heuristic

inferred from DOI database lookup

MatInspector and beyond: promoter analysis based on transcription factor binding sites

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21142

7 January 2021

based on heuristic

inferred from DOI database lookup

Localization of dominantly inherited isolated triphalangeal thumb to chromosomal region 7q36

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21142

7 January 2021

based on heuristic

inferred from DOI database lookup

A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21142

7 January 2021

based on heuristic

inferred from DOI database lookup

Bilateral complete polysyndactyly (type IV Haas)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21142

7 January 2021

based on heuristic

inferred from DOI database lookup

Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21142

7 January 2021

based on heuristic

inferred from DOI database lookup

A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21142

7 January 2021

based on heuristic

inferred from DOI database lookup

Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21142

7 January 2021

based on heuristic

inferred from DOI database lookup

A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21142

7 January 2021

based on heuristic

inferred from DOI database lookup

Preaxial polydactyly: a model for defective long-range regulation in congenital abnormalities

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21142

7 January 2021

based on heuristic

inferred from DOI database lookup

Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactyly

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21142

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation analysis of a large Chinese pedigree with congenital preaxial polydactyly

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21142

7 January 2021

based on heuristic

inferred from DOI database lookup

Single base pair change in the long-range Sonic hedgehog limb-specific enhancer is a genetic basis for preaxial polydactyly.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21142

7 January 2021

based on heuristic

inferred from DOI database lookup

A series of ENU-induced single-base substitutions in a long-range cis-element altering Sonic hedgehog expression in the developing mouse limb bud.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21142

7 January 2021

based on heuristic

inferred from DOI database lookup

Nager acrofacial dysostosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21142

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations in different components of FGF signaling in LADD syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21142

7 January 2021

based on heuristic

inferred from DOI database lookup

Elimination of a long-range cis-regulatory module causes complete loss of limb-specific Shh expression and truncation of the mouse limb.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21142

7 January 2021

based on heuristic

inferred from DOI database lookup

A syndactyly type IV locus maps to 7q36.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21142

7 January 2021

based on heuristic

inferred from DOI database lookup

Homozygous feature of isolated triphalangeal thumb-preaxial polydactyly linked to 7q36: no phenotypic difference between homozygotes and heterozygotes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21142

7 January 2021

based on heuristic

inferred from DOI database lookup

Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21142

7 January 2021

based on heuristic

inferred from DOI database lookup

Absent tibiae--polydactyly--triphalangeal thumbs with fibular dimelia: variable expression of the Werner (McKusick 188770) syndrome?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21142

7 January 2021

based on heuristic

inferred from DOI database lookup

A single C to T transition in intron 5 of LMBR1 gene is associated with triphalangeal thumb-polysyndactyly syndrome in a Chinese family.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21142

7 January 2021

based on heuristic

inferred from DOI database lookup

Computer modeling of promoter organization as a tool to study transcriptional coregulation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21142

7 January 2021

based on heuristic

inferred from DOI database lookup

A ZRS duplication causes syndactyly type IV with tibial hypoplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21142

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.21142

1 reference

Europe PubMed Central

17 November 2017

1 reference

Europe PubMed Central

17 November 2017

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=Q43256913&oldid=1985023825"