(Q41090374)

26 September 2017

Mutations in the C-terminal domain of Sonic Hedgehog cause holoprosencephaly (English)

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26 September 2017

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2

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26 September 2017

Roessler E

1

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26 September 2017

Gaudenz K

3

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26 September 2017

Vargas F

4

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26 September 2017

Scherer SW

5

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26 September 2017

Tsui LC

6

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26 September 2017

Muenke M

7

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26 September 2017

1 October 1997

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26 September 2017

Human Molecular Genetics

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26 September 2017

6

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26 September 2017

1847-1853

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26 September 2017

11

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Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

26 September 2017

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1847

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1847

Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1847

Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1847

Physical mapping of the holoprosencephaly critical region on chromosome 7q36.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1847

Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1847

Cloning, expression, and chromosomal location of SHH and IHH: two human homologues of the Drosophila segment polarity gene hedgehog

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1847

Mutations affecting segment number and polarity in Drosophila

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1847

Secretion and localized transcription suggest a role in positional signaling for products of the segmentation gene hedgehog

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1847

Hedgehog and Bmp genes are coexpressed at many diverse sites of cell-cell interaction in the mouse embryo

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1847

Sonic hedgehog, a member of a family of putative signaling molecules, is implicated in the regulation of CNS polarity

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1847

Ectopic expression of Sonic hedgehog alters dorsal-ventral patterning of somites.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1847

Hedgehog, transmitted along retinal axons, triggers neurogenesis in the developing visual centers of the Drosophila brain.

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1847

Sonic hedgehog mediates the polarizing activity of the ZPA

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1847

A functionally conserved homolog of the Drosophila segment polarity gene hh is expressed in tissues with polarizing activity in zebrafish embryos

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1847

Long-range sclerotome induction by sonic hedgehog: direct role of the amino-terminal cleavage product and modulation by the cyclic AMP signaling pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1847

Secretion of the amino-terminal fragment of the hedgehog protein is necessary and sufficient for hedgehog signalling in Drosophila.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1847

The product of hedgehog autoproteolytic cleavage active in local and long-range signalling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1847

Requirement of 19K form of Sonic hedgehog for induction of distinct ventral cell types in CNS explants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1847

Cholesterol modification of hedgehog signaling proteins in animal development

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1847

Hedgehog patterning activity: role of a lipophilic modification mediated by the carboxy-terminal autoprocessing domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1847

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1847

Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1847

Holoprosencephaly: a family showing dominant inheritance and variable expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1847

Autoproteolysis in hedgehog protein biogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1847

The segment polarity gene hedgehog is required for progression of the morphogenetic furrow in the developing Drosophila eye.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1847

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1847

The world according to hedgehog

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1847

A potential catalytic site revealed by the 1.7-A crystal structure of the amino-terminal signalling domain of Sonic hedgehog

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1847

Floor plate and motor neuron induction by different concentrations of the amino-terminal cleavage product of sonic hedgehog autoproteolysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1847

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1847

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.11.1847

21 January 2018

Identifiers

DOI

10.1093/HMG/6.11.1847

1 reference

release_gxfq222chnb67po43epa75r6ny

26 September 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/gxfq222chnb67po43epa75r6ny

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference