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Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

Author

Philippe Jay

1967 -

Maximilian Muenke

Published in: Nature Genetics

Date of publication: November 1, 1996

Language: English

Main subject: holoprosencephaly

Bibliographic databases:

Cites articles 29

Date

Title

Authors

October 30, 1980

Mutations affecting segment number and polarity in Drosophila
September 1, 1989

Perspectives on holoprosencephaly: Part I. Epidemiology, genetics, and syndromology
October 1, 1989

Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities
October 1, 1989

Holoprosencephaly: a developmental field defect
March 1, 1991

The cyclops mutation blocks specification of the floor plate of the zebrafish central nervous system
October 1, 1992

Secretion and localized transcription suggest a role in positional signaling for products of the segmentation gene hedgehog
March 1, 1993

Physical mapping of the holoprosencephaly critical region on chromosome 7q36.
December 31, 1993

Sonic hedgehog mediates the polarizing activity of the ZPA

,
December 31, 1993

Sonic hedgehog, a member of a family of putative signaling molecules, is implicated in the regulation of CNS polarity
December 1, 1993

A functionally conserved homolog of the Drosophila segment polarity gene hh is expressed in tissues with polarizing activity in zebrafish embryos
February 25, 1994

Floor plate and motor neuron induction by vhh-1, a vertebrate homolog of hedgehog expressed by the notochord
August 1, 1994

Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity
December 1, 1994

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

, ,
November 1994

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome
July 1, 1995

Cloning, expression, and chromosomal location of SHH and IHH: two human homologues of the Drosophila segment polarity gene hedgehog
November 9, 1995

A potential catalytic site revealed by the 1.7-A crystal structure of the amino-terminal signalling domain of Sonic hedgehog
May 1, 1995

Long-range sclerotome induction by sonic hedgehog: direct role of the amino-terminal cleavage product and modulation by the cyclic AMP signaling pathway
June 1, 1995

Induction of motor neurons by Sonic hedgehog is independent of floor plate differentiation
June 1, 1995

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

,
March 1, 1995

The product of hedgehog autoproteolytic cleavage active in local and long-range signalling
May 1, 1995

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

,
June 1, 1995

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

,
May 1, 1995

Floor plate and motor neuron induction by different concentrations of the amino-terminal cleavage product of sonic hedgehog autoproteolysis
September 1, 1995

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

, ,
October 3, 1996

Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function
February 1, 1996

Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21.
November 1, 1996

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly
August 1, 1996

Hedgehog, transmitted along retinal axons, triggers neurogenesis in the developing visual centers of the Drosophila brain
March 1, 1996

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

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