(Q47939552)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10441342%20AND%20SRC:MED&resulttype=core&format=json

11 December 2019

title

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome (English)

1 reference

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11 December 2019

11

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11 December 2019

Renata Rizzo

20

1 reference

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11 December 2019

author name string

M Kalff-Suske

1

1 reference

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11 December 2019

A Wild

2

1 reference

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11 December 2019

J Topp

3

1 reference

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11 December 2019

M Wessling

4

1 reference

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11 December 2019

E M Jacobsen

5

1 reference

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11 December 2019

D Bornholdt

6

1 reference

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11 December 2019

H Engel

7

1 reference

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11 December 2019

H Heuer

8

1 reference

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11 December 2019

C M Aalfs

9

1 reference

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11 December 2019

M G Ausems

10

1 reference

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11 December 2019

A Herzog

12

1 reference

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11 December 2019

P Heutink

13

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11 December 2019

T Homfray

14

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11 December 2019

G Gillessen-Kaesbach

15

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11 December 2019

R König

16

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11 December 2019

J Kunze

17

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11 December 2019

P Meinecke

18

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11 December 2019

D Müller

19

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11 December 2019

S Strenge

21

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11 December 2019

A Superti-Furga

22

1 reference

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11 December 2019

K H Grzeschik

23

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11 December 2019

publication date

1 September 1999

1 reference

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11 December 2019

published in

Human Molecular Genetics

1 reference

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11 December 2019

volume

8

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11 December 2019

issue

9

1 reference

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11 December 2019

page(s)

1769-1777

1 reference

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The Greig cephalopolysyndactyly syndrome: report of a family and review of the literature

11 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1769

GLI3 zinc-finger gene interrupted by translocations in Greig syndrome families

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1769

GLI3 encodes a 190-kilodalton protein with multiple regions of GLI similarity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1769

Catching a Gli-mpse of Hedgehog

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1769

Transducing Hedgehog: the story so far

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1769

Proteolysis that is inhibited by hedgehog targets Cubitus interruptus protein to the nucleus and converts it to a repressor

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1769

Suppressor of fused links fused and Cubitus interruptus on the hedgehog signalling pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1769

Transcriptional activation of hedgehog target genes in Drosophila is mediated directly by the cubitus interruptus protein, a member of the GLI family of zinc finger DNA-binding proteins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1769

Hedgehog stimulates maturation of Cubitus interruptus into a labile transcriptional activator

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1769

Sonic hedgehog differentially regulates expression of GLI and GLI3 during limb development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1769

A role for Xenopus Gli-type zinc finger proteins in the early embryonic patterning of mesoderm and neuroectoderm

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1769

Expression profile of Gli family members and Shh in normal and mutant mouse limb development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1769

Point mutations in human GLI3 cause Greig syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1769

GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1769

Mutation in GLI3 in postaxial polydactyly type A

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1769

21 January 2018

Strike three for GLI3.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1769

Gene structure and allelic expression assay of the human GLI3 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1769

Crystal structure of a five-finger GLI-DNA complex: new perspectives on zinc fingers

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1769

Identification of optimized target sequences for the GLI3 zinc finger protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1769

Protein kinase A directly regulates the activity and proteolysis of cubitus interruptus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1769

Functional dissection of VP16, the trans-activator of herpes simplex virus immediate early gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1769

GLI activates transcription through a herpes simplex viral protein 16-like activation domain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1769

Sonic Hedgehog-induced activation of the Gli1 promoter is mediated by GLI3

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1769

GLI3 mutations in human disorders mimic Drosophila cubitus interruptus protein functions and localization

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1769

Cloning and characterization of the segment polarity gene cubitus interruptus Dominant of Drosophila

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1769

Protein kinase recognition sequence motifs

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1769

Effect of 5' splice site mutations on splicing of the preceding intron

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1769

Isolation of a yeast artificial chromosome contig spanning the Greig cephalopolysyndactyly syndrome (GCPS) gene region

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1769

Transcription activation by the adenovirus E1a protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1769

Drosophila CBP is a co-activator of cubitus interruptus in hedgehog signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.9.1769