Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Akro-capito-femorale Dysplasie
IHH
Brachydaktylie Typ A1, A
IHH

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: 31. März 2018