(Q34329170)

English

Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20068592%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

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Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20068592%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

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cis-regulatory element

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based on heuristic

inferred from title

Jesper Thorvald Troelsen

2

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16 January 2020

Muhammad Sajid Hussain

6

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16 January 2020

11

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16 January 2020

12

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Shahid Mahmood Baig

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16 January 2020

Shoaib Ur Rehman

7

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Shoaib ur Rehman

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16 January 2020

Syeda Marriam Bakhtiar

10

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Syeda Marriam Bakhtiar

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16 January 2020

author name string

Muhammad Farooq

1

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16 January 2020

Mette Boyd

3

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16 January 2020

Hans Eiberg

4

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16 January 2020

Lars Hansen

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16 January 2020

Aysha Azhar

8

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16 January 2020

Amjad Ali

9

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16 January 2020

Klaus W Kjaer

13

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16 January 2020

publication date

13 January 2010

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16 January 2020

European Journal of Human Genetics

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16 January 2020

18

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16 January 2020

6

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16 January 2020

733-736

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Europe PubMed Central

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16 January 2020

https://scigraph.springernature.com/pub.10.1038/ejhg.2009.225

0 references

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987342

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987342

6 July 2018

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987342

6 July 2018

Phylogenetic conservation of a limb-specific, cis-acting regulator of Sonic hedgehog ( Shh)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987342

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987342

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987342

6 July 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.225

21 January 2018

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/10.1038%2FEJHG.2009.225

21 January 2018

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/10.1038%2FEJHG.2009.225

21 January 2018

An enhancer activates the pig lactase phlorizin hydrolase promoter in intestinal cells

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.225

21 January 2018

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/10.1038%2FEJHG.2009.225

21 January 2018

HnRNP U mediates the long-range regulation of Shh expression during limb development

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.225

21 January 2018

Identifiers

10.1038/EJHG.2009.225

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20068592%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20068592%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

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16 January 2020

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