(Q40528928)

21 September 2017

Functional characterization of sonic hedgehog mutations associated with holoprosencephaly (English)

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21 September 2017

1 reference

4

Didier Rognan

1 reference

21 September 2017

Elisabeth Traiffort

1

1 reference

21 September 2017

Christèle Dubourg

2

1 reference

21 September 2017

Hélène Faure

3

1 reference

21 September 2017

Sylvie Odent

5

1 reference

21 September 2017

Marie-Renée Durou

6

1 reference

21 September 2017

Véronique David

7

1 reference

21 September 2017

Martial Ruat

8

1 reference

21 September 2017

language of work or name

English

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publication date

28 July 2004

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Journal of Biological Chemistry

21 September 2017

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21 September 2017

279

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21 September 2017

41

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21 September 2017

42889-42897

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How a Hedgehog might see holoprosencephaly

21 September 2017

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

Molecular mechanisms of holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

A loss-of-function mutation in the CFC domain of TDGF1 is associated with human forebrain defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

Preimplantation diagnosis for sonic hedgehog mutation causing familial holoprosencephaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

Hedgehog signaling in animal development: paradigms and principles

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

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/10.1074%2FJBC.M405161200

Identification of a palmitic acid-modified form of human Sonic hedgehog

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

Intrastriatal sonic hedgehog injection increases Patched transcript levels in the adult rat subventricular zone.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

Hedgehog interacting protein in the mature brain: membrane-associated and soluble forms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

A freely diffusible form of Sonic hedgehog mediates long-range signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

Developmental roles and clinical significance of hedgehog signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene inbasal cell carcinoma and medulloblastoma on chromosome 1p32.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

Vertebrate Hedgehog signalling modulated by induction of a Hedgehog-binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

Mouse dispatched mutants fail to distribute hedgehog proteins and are defective in hedgehog signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

Hedgehog-mediated patterning of the mammalian embryo requires transporter-like function of dispatched

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

Overexpression of ptc1 inhibits induction of Shh target genes and prevents normal patterning in the neural tube

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

Smoothened mutants reveal redundant roles for Shh and Ihh signaling including regulation of L/R symmetry by the mouse node

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

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/10.1074%2FJBC.M405161200

Crystal structure of a Hedgehog autoprocessing domain: homology between Hedgehog and self-splicing proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

Protein-based virtual screening of chemical databases. II. Are homology models of G-Protein Coupled Receptors suitable targets?

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

A Second Generation Force Field for the Simulation of Proteins, Nucleic Acids, and Organic Molecules

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

High expression and anterograde axonal transport of aminoterminal sonic hedgehog in the adult hamster brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

Mapping sonic hedgehog-receptor interactions by steric interference

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

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/10.1074%2FJBC.M405161200

Proteolytic processing yields two secreted forms of sonic hedgehog

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

Autoproteolysis in hedgehog protein biogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

Enhanced potency of human Sonic hedgehog by hydrophobic modification.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

Sonic hedgehog protein signals not as a hydrolytic enzyme but as an apparent ligand for patched

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

Zinc-dependent structural stability of human Sonic hedgehog

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

Multiple hits during early embryonic development: digenic diseases and holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

The type II activin receptors are essential for egg cylinder growth, gastrulation, and rostral head development in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

Memory CD8+ T cells vary in differentiation phenotype in different persistent virus infections

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

Genetics of Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M405161200

21 January 2018

Identifiers

DOI

10.1074/JBC.M405161200

1 reference

21 September 2017

1 reference