Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. (Q47939552)

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11 December 2019

title

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

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11 December 2019

11

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11 December 2019

Renata Rizzo

20

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11 December 2019

author name string

M Kalff-Suske

1

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11 December 2019

A Wild

2

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11 December 2019

J Topp

3

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11 December 2019

M Wessling

4

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11 December 2019

E M Jacobsen

5

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11 December 2019

D Bornholdt

6

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11 December 2019

H Engel

7

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11 December 2019

H Heuer

8

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11 December 2019

C M Aalfs

9

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11 December 2019

M G Ausems

10

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A Herzog

12

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P Heutink

13

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T Homfray

14

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G Gillessen-Kaesbach

15

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11 December 2019

R König

16

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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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S Strenge

21

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A Superti-Furga

22

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K H Grzeschik

23

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publication date

1 September 1999

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11 December 2019

published in

Human Molecular Genetics

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11 December 2019

volume

8

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11 December 2019

issue

9

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11 December 2019

page(s)

1769-1777

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

11 December 2019

cites work

1 reference

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

21 January 2018

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

21 January 2018

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Catching a Gli-mpse of Hedgehog

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Transducing Hedgehog: the story so far

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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Hedgehog stimulates maturation of Cubitus interruptus into a labile transcriptional activator

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Point mutations in human GLI3 cause Greig syndrome.

21 January 2018

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GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome

21 January 2018

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Mutation in GLI3 in postaxial polydactyly type A

21 January 2018

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21 January 2018

Strike three for GLI3.

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

21 January 2018

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

21 January 2018

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Identification of optimized target sequences for the GLI3 zinc finger protein

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Protein kinase recognition sequence motifs

21 January 2018

1 reference

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

21 January 2018

1 reference

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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

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

21 January 2018

1 reference

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21 January 2018

Identifiers

DOI

10.1093/HMG/8.9.1769

1 reference

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

11 December 2019

1 reference