Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly (Q24530593)

19

object named as

Peter Heutink

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Ben A Oostra

9

object named as

Ben A Oostra

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author name string

Laura A Lettice

1

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Taizo Horikoshi

2

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Simon J H Heaney

3

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Marijke J van Baren

4

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Herma C van der Linde

5

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Guido J Breedveld

6

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Marijke Joosse

7

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Nurten Akarsu

8

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Naoto Endo

10

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Minoru Shibata

11

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Mikio Suzuki

12

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Eiichi Takahashi

13

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Toshikatsu Shinka

14

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Yutaka Nakahori

15

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Dai Ayusawa

16

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Kazuhiko Nakabayashi

17

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Robert E Hill

20

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Sumihare Noji

Proceedings of the National Academy of Sciences of the United States of America

21

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language of work or name

English

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publication date

28 May 2002

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published in

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volume

99

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page(s)

7548-53

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issue

11

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describes a project that uses

ImageQuant

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC124279/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Reciprocal mouse and human limb phenotypes caused by gain- and loss-of-function mutations affecting Lmbr1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=124279

A novel acropectoral syndrome maps to chromosome 7q36

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=124279

Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=124279

Manifestation of the limb prepattern: limb development in the absence of sonic hedgehog function

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=124279

A novel candidate gene for mouse and human preaxial polydactyly with altered expression in limbs of Hemimelic extra-toes mutant mice

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=124279

A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=124279

Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=124279

Linkage of preaxial polydactyly type 2 to 7q36

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=124279

Some distal limb structures develop in mice lacking Sonic hedgehog signaling

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=124279

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=124279

Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=124279

Further data on acheiropody

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=124279

Multigenic control of the localization of the zone of polarizing activity in limb morphogenesis in the mouse.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=124279

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=124279

The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=124279

Identification of sonic hedgehog as a candidate gene responsible for the polydactylous mouse mutant Sasquatch.

30 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.112212199

The sequence complexity of exons trapped from the mouse genome.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1073%2FPNAS.112212199

The dominant hemimelia mutation uncouples epithelial-mesenchymal interactions and disrupts anterior mesenchyme formation in mouse hindlimbs.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=124279

A complex bilateral polysyndactyly disease locus maps to chromosome 7q36

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=124279

Acheiropodia: report on four new Brazilian patients

29 November 2018

1 reference

12 December 2020

R-banding and nonisotopic in situ hybridization: precise localization of the human type II collagen gene (COL2A1)

1 reference

12 December 2020

A duplicated zone of polarizing activity in polydactylous mouse mutants

1 reference

12 December 2020

Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.112212199

1 reference

455408

ADS bibcode

2002PNAS...99.7548L

0 references

455408

1 reference

1 reference

1 reference