Indian hedgehog protein
The IHH gene encodes a signaling protein which is a member of the hedgehog family. Mutations cause autosomal dominant brachydactyly type A1 and recessive acrocapitofemoral dysplasia.
Genetests:
Related Diseases:
References:
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Maeda Y et al. (2007) Indian Hedgehog produced by postnatal chondrocytes is essential for maintaining a growth plate and trabecular bone.
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Chung UI et al. (2001) Indian hedgehog couples chondrogenesis to osteogenesis in endochondral bone development.
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Zhang XM et al. (2001) Smoothened mutants reveal redundant roles for Shh and Ihh signaling including regulation of L/R asymmetry by the mouse node.
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Giordano N et al. (2003) Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family.
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Gofflot F et al. (2003) Molecular mechanisms underlying limb anomalies associated with cholesterol deficiency during gestation: implications of Hedgehog signaling.
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Berman DM et al. (2003) Widespread requirement for Hedgehog ligand stimulation in growth of digestive tract tumours.
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van den Brink GR et al. (2004) Indian Hedgehog is an antagonist of Wnt signaling in colonic epithelial cell differentiation.
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Koziel L et al. (2004) Ext1-dependent heparan sulfate regulates the range of Ihh signaling during endochondral ossification.
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Kobayashi T et al. (2005) Indian hedgehog stimulates periarticular chondrocyte differentiation to regulate growth plate length independently of PTHrP.
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Lee K et al. (2006) Indian hedgehog is a major mediator of progesterone signaling in the mouse uterus.
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van de Wetering M et al. (2002) The beta-catenin/TCF-4 complex imposes a crypt progenitor phenotype on colorectal cancer cells.
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Mak KK et al. (2008) Hedgehog signaling in mature osteoblasts regulates bone formation and resorption by controlling PTHrP and RANKL expression.
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McLellan JS et al. (2008) The mode of Hedgehog binding to Ihog homologues is not conserved across different phyla.
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Gao B et al. (2009) A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range.
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Byrnes AM et al. (2009) Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog.
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Lin AC et al. (2009) Modulating hedgehog signaling can attenuate the severity of osteoarthritis.
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Klopocki E et al. (2011) Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.
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de la Roche M et al. (2013) Hedgehog signaling controls T cell killing at the immunological synapse.
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Will AJ et al. (2017) Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog).
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Hebrok M et al. (2000) Regulation of pancreas development by hedgehog signaling.
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Meyer RA et al. (2003) Gene expression in older rats with delayed union of femoral fractures.
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Chen L et al. (2001) A Ser(365)-->Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia.
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Lanske B et al. (1996) PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth.
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Vortkamp A et al. (1996) Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein.
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Capurro MI et al. (2008) Glypican-3 inhibits Hedgehog signaling during development by competing with patched for Hedgehog binding.
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Hellemans J et al. (2003) Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.
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27. |
Gao B et al. (2001) Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.
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McCready ME et al. (2002) A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.
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Kirkpatrick TJ et al. (2003) Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus.
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HAWS DV et al. (1963) FARABEE'S BRACHYDACTYLOUS KINDRED REVISITED.
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McCready ME et al. (2005) A century later Farabee has his mutation.
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Liu M et al. (2006) A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family.
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Zhu G et al. (2007) Recurrence of the D100N mutation in a Chinese family with brachydactyly type A1: evidence for a mutational hot spot in the Indian hedgehog gene.
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Lodder EM et al. (2008) Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1.
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35. |
Porter JA et al. (1996) Cholesterol modification of hedgehog signaling proteins in animal development.
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Marigo V et al. (1995) Cloning, expression, and chromosomal location of SHH and IHH: two human homologues of the Drosophila segment polarity gene hedgehog.
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Leek JP et al. (1997) Assignment of Indian hedgehog (IHH) to human chromosome bands 2q33-->q35 by in situ hybridization.
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Bienz M et al. (2000) Linking colorectal cancer to Wnt signaling.
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NCBI article
NCBI 3549
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OMIM.ORG article
Omim 600726
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Orphanet article
Orphanet ID 122605
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Wikipedia article
Wikipedia EN (Indian_hedgehog_(protein))
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Update: Aug. 14, 2020