Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels (Q24301248)

smoothened signaling pathway

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

Patched 1

1 reference

GOA release 2020-03-11

brachydactyly type A1

1 reference

Cong-zhao Zhou

18

0 references

author name string

Gang Ma

1

0 references

Jiang Yu

2

0 references

Yue Xiao

3

0 references

Danny Chan

4

0 references

Bo Gao

5

0 references

Jianxin Hu

6

0 references

Yongxing He

7

0 references

Shengzhen Guo

8

0 references

Jian Zhou

9

0 references

Lingling Zhang

10

0 references

Linghan Gao

11

0 references

Wenjuan Zhang

12

0 references

Yan Kang

13

0 references

Kathryn S E Cheah

14

0 references

Guoyin Feng

15

0 references

Xizhi Guo

16

0 references

Yujiong Wang

17

0 references

Lin He

Structural insights into hedgehog ligand sequestration by the human hedgehog-interacting protein HHIP

19

0 references

language of work or name

English

0 references

publication date

September 2011

0 references

published in

Cell Research

0 references

volume

21

0 references

issue

9

0 references

page(s)

1343-57

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

Electrostatics of nanosystems: application to microtubules and the ribosome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

All Mammalian Hedgehog Proteins Interact with Cell Adhesion Molecule, Down-regulated by Oncogenes (CDO) and Brother of CDO (BOC) in a Conserved Manner

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

The mode of Hedgehog binding to Ihog homologues is not conserved across different phyla

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

Solving structures of protein complexes by molecular replacement with Phaser

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

The integration of macromolecular diffraction data

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

Coot: model-building tools for molecular graphics

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

Refinement of macromolecular structures by the maximum-likelihood method

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

Crystallography & NMR System: A New Software Suite for Macromolecular Structure Determination

19 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

19 March 2017

https://api.crossref.org/works/10.1038/CR.2011.76

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

22 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

The roles of intracellular protein-degradation pathways in neurodegeneration

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

Lipoprotein particles are required for Hedgehog and Wingless signalling

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

Palmitoylation is required for the production of a soluble multimeric Hedgehog protein complex and long-range signaling in vertebrates

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

Hedgehog signaling in animal development: paradigms and principles

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

Dual roles for patched in sequestering and transducing Hedgehog

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

Glypican-3 inhibits Hedgehog signaling during development by competing with patched for Hedgehog binding

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

Dispatched, a novel sterol-sensing domain protein dedicated to the release of cholesterol-modified hedgehog from signaling cells

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

Autoproteolysis in hedgehog protein biogenesis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

Receptor-mediated endocytosis of soluble and membrane-tethered Sonic hedgehog by Patched-1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

PROCHECK: a program to check the stereochemical quality of protein structures

7 April 2017

1 reference

https://api.crossref.org/works/10.1038/CR.2011.76

Developmental roles and clinical significance of hedgehog signaling

22 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

HedgehogandBmpGenes Are Coexpressed at Many Diverse Sites of Cell–Cell Interaction in the Mouse Embryo

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

Missense mutations in IHH impair Indian Hedgehog signaling in C3H10T1/2 cells: Implications for brachydactyly type A1, and new targets for Hedgehog signaling.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

Intracellular protein degradation in mammalian cells: recent developments

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

Ca(2+)-dependent proteolysis in muscle wasting.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

Synergistic and antagonistic roles of the Sonic hedgehog N- and C-terminal lipids

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

Answering a century old riddle: brachydactyly type A1.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

The cholesterol membrane anchor of the Hedgehog protein confers stable membrane association to lipid-modified proteins

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

Inhibition of sonic hedgehog autoprocessing in cultured mammalian cells by sterol deprivation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

Human COL2A1-directed SV40 T antigen expression in transgenic and chimeric mice results in abnormal skeletal development.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

A highly conserved amino-terminal region of sonic hedgehog is required for the formation of its freely diffusible multimeric form.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

Tout-velu is a Drosophila homologue of the putative tumour suppressor EXT-1 and is needed for Hh diffusion

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

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

30 May 2018

1 reference

https://api.crossref.org/works/10.1038%2FCR.2011.76

Three Drosophila EXT genes shape morphogen gradients through synthesis of heparan sulfate proteoglycans

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FCR.2011.76

Distinct and collaborative roles of Drosophila EXT family proteins in morphogen signalling and gradient formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FCR.2011.76

Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FCR.2011.76

A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FCR.2011.76

Ext1-dependent heparan sulfate regulates the range of Ihh signaling during endochondral ossification

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FCR.2011.76

Lipoprotein-heparan sulfate interactions in the Hh pathway.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FCR.2011.76

Nanoscale organization of hedgehog is essential for long-range signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FCR.2011.76

Cerebellar proteoglycans regulate sonic hedgehog responses during development

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3193471

Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21537345