Mutations in the human Sonic Hedgehog gene cause holoprosencephaly (Q28116314)

4 January 2017

title

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly (English)

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4 January 2017

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P. Jay

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Maximilian Muenke

object named as

M. Muenke

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author name string

E. Roessler

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4 January 2017

E. Belloni

2

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4 January 2017

K. Gaudenz

3

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4 January 2017

P. Berta

5

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4 January 2017

S. W. Scherer

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4 January 2017

L. C. Tsui

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4 January 2017

language of work or name

English

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publication date

1 November 1996

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4 January 2017

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4 January 2017

volume

14

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4 January 2017

issue

3

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4 January 2017

page(s)

357–360

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

4 January 2017

cites work

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Floor plate and motor neuron induction by vhh-1, a vertebrate homolog of hedgehog expressed by the notochord

21 April 2017

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

21 April 2017

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

21 April 2017

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

21 April 2017

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21.

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7 January 2021

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

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7 January 2021

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly

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7 January 2021

Mutations affecting segment number and polarity in Drosophila

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7 January 2021

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

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7 January 2021

Sonic hedgehog mediates the polarizing activity of the ZPA

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7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Induction of motor neurons by Sonic hedgehog is independent of floor plate differentiation

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Sonic hedgehog induces the differentiation of ventral forebrain neurons: A common signal for ventral patterning within the neural tube

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

The cyclops mutation blocks specification of the floor plate of the zebrafish central nervous system

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7 January 2021

A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36.

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7 January 2021

Protein kinase A is a common negative regulator of Hedgehog signaling in the vertebrate embryo

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7 January 2021

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

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7 January 2021

Holoprosencephaly: a developmental field defect.

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7 January 2021