(Q51852824)

14 April 2018

title

Enhancer-adoption as a mechanism of human developmental disease. (English)

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14 April 2018

author

David R. FitzPatrick

10

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14 April 2018

Philippe Gautier

6

object named as

Philippe Gautier

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14 April 2018

Sarah Daniels

2

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author name string

Laura A Lettice

1

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14 April 2018

Elizabeth Sweeney

3

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14 April 2018

Shanmugasundaram Venkataraman

4

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14 April 2018

Paul S Devenney

5

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14 April 2018

Harris Morrison

7

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14 April 2018

Judy Fantes

8

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14 April 2018

Robert E Hill

9

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14 April 2018

publication date

20 October 2011

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14 April 2018

published in

Human Mutation

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14 April 2018

volume

32

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14 April 2018

issue

12

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14 April 2018

page(s)

1492-1499

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14 April 2018

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

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A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.

21 January 2018

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A high-resolution anatomical atlas of the transcriptome in the mouse embryo

21 January 2018

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The transcriptional repressor CDP (Cutl1) is essential for epithelial cell differentiation of the lung and the hair follicle

21 January 2018

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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

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21615

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

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https://api.crossref.org/works/10.1002%2FHUMU.21615

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

21 January 2018

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

21 January 2018

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A functional screen for sonic hedgehog regulatory elements across a 1 Mb interval identifies long-range ventral forebrain enhancers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21615

Distinct regulators of Shh transcription in the floor plate and notochord indicate separate origins for these tissues in the mouse node.

21 January 2018

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Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6.

21 January 2018

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

21 January 2018

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Deregulated expression of the homeobox gene Cux-1 in transgenic mice results in downregulation of p27(kip1) expression during nephrogenesis, glomerular abnormalities, and multiorgan hyperplasia

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21615

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21615

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

21 January 2018

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Genetic ablation of the CDP/Cux protein C terminus results in hair cycle defects and reduced male fertility

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21615

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

21 January 2018

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TRANSFAC and its module TRANSCompel: transcriptional gene regulation in eukaryotes

21 January 2018

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In vivo enhancer analysis of human conserved non-coding sequences

21 January 2018

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EMBOSS: the European Molecular Biology Open Software Suite

21 January 2018

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Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21615

A cluster of three long-range enhancers directs regional Shh expression in the epithelial linings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21615

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

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21615

A syndactyly type IV locus maps to 7q36.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21615

PipMaker--a web server for aligning two genomic DNA sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21615

Optical projection tomography as a tool for 3D microscopy and gene expression studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21615

Analysis of genotype-phenotype correlations in human holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21615

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21615

Regulatory sequence analysis tools

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21615

ChIP-seq accurately predicts tissue-specific activity of enhancers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21615

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21615

The regulation of myogenin gene expression during the embryonic development of the mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21615

Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21615

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21615

7 January 2021

Double labeling for whole-mount in situ hybridization in mouse.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21615

7 January 2021

Position effect in human genetic disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21615

7 January 2021

A novel regulatory myosin light chain gene distinguishes pre-B cell subsets and is IL-7 inducible

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21615

7 January 2021

Identifiers

DOI

10.1002/HUMU.21615

1 reference

14 April 2018

1 reference

14 April 2018