Indisches Hedgehog-Protein
Das IHH-Gen kodiert ein Signalprotein der Hedgehog-Familie. Mutationen werden bei autosomal dominanter Brachydaktylie Typ A1 und bei rezessiver acrocapitofemoraler Dysplasie gesehen.
Gentests:
| Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
| Bearbeitungszeit |
5 Tage |
| Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
| 1. |
Meyer RA et. al. (2003) Gene expression in older rats with delayed union of femoral fractures.
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| 2. |
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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| 3. |
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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| 4. |
Lanske B et. al. (1996) PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth.
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| 5. |
Vortkamp A et. al. (1996) Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein.
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| 6. |
Capurro MI et. al. (2008) Glypican-3 inhibits Hedgehog signaling during development by competing with patched for Hedgehog binding.
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| 7. |
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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| 8. |
Porter JA et. al. (1996) Cholesterol modification of hedgehog signaling proteins in animal development.
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| 9. |
Leek JP et. al. (1997) Assignment of Indian hedgehog (IHH) to human chromosome bands 2q33-->q35 by in situ hybridization.
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| 10. |
Hebrok M et. al. (2000) Regulation of pancreas development by hedgehog signaling.
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| 11. |
Bienz M et. al. (2000) Linking colorectal cancer to Wnt signaling.
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| 12. |
Chung UI et. al. (2001) Indian hedgehog couples chondrogenesis to osteogenesis in endochondral bone development.
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| 13. |
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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| 14. |
Gao B et. al. (2001) Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.
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| 15. |
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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| 16. |
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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| 17. |
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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| 18. |
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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| 19. |
Gofflot F et. al. (2003) Molecular mechanisms underlying limb anomalies associated with cholesterol deficiency during gestation: implications of Hedgehog signaling.
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| 20. |
HAWS DV et. al. (1963) FARABEE'S BRACHYDACTYLOUS KINDRED REVISITED.
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| 21. |
Berman DM et. al. (2003) Widespread requirement for Hedgehog ligand stimulation in growth of digestive tract tumours.
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| 22. |
van den Brink GR et. al. (2004) Indian Hedgehog is an antagonist of Wnt signaling in colonic epithelial cell differentiation.
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| 23. |
Koziel L et. al. (2004) Ext1-dependent heparan sulfate regulates the range of Ihh signaling during endochondral ossification.
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| 24. |
McCready ME et. al. (2005) A century later Farabee has his mutation.
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| 25. |
Kobayashi T et. al. (2005) Indian hedgehog stimulates periarticular chondrocyte differentiation to regulate growth plate length independently of PTHrP.
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| 26. |
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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| 27. |
Lee K et. al. (2006) Indian hedgehog is a major mediator of progesterone signaling in the mouse uterus.
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| 28. |
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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| 29. |
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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| 30. |
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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| 31. |
Lodder EM et. al. (2008) Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1.
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| 32. |
McLellan JS et. al. (2008) The mode of Hedgehog binding to Ihog homologues is not conserved across different phyla.
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| 33. |
Gao B et. al. (2009) A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range.
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| 34. |
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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| 35. |
Lin AC et. al. (2009) Modulating hedgehog signaling can attenuate the severity of osteoarthritis.
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| 36. |
Klopocki E et. al. (2011) Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.
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| 37. |
de la Roche M et. al. (2013) Hedgehog signaling controls T cell killing at the immunological synapse.
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| 38. |
Will AJ et. al. (2017) Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog).
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Update: 26. September 2018
