Hoch-affiner Nerven-Wachstumsfaktor-Rezeptor
Das NTRK1-Gen kodiert eine Tyrosinkinase-Rezeptor, der in der Signaltransduktion für die Entwicklung von Nervenfaser verantwortlich ist. Mutationen verursachen autosomal dominante kongenitale Schmerzunempfindlichkeit mit Anhidrose. Chimäre Genfusionen (NTRK1/TFG) führen zu medullärem Schilddrüsenkarzinom.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Indo Y et al. (2001) Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.
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2. |
None (1996) p75NTR: a receptor after all.
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3. |
Greco A et al. (1996) Genomic organization of the human NTRK1 gene.
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4. |
Carter BD et al. (1997) Neurotrophins live or let die: does p75NTR decide?
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5. |
Greco A et al. (1999) A novel NTRK1 mutation associated with congenital insensitivity to pain with anhidrosis.
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6. |
Yotsumoto S et al. (1999) A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhidrosis.
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7. |
Mardy S et al. (1999) Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.
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8. |
Miura Y et al. (2000) Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor in congenital insensitivity to pain with anhidrosis (CIPA) families.
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9. |
Miura Y et al. (2000) Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis.
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10. |
Bibel M et al. (2000) Neurotrophins: key regulators of cell fate and cell shape in the vertebrate nervous system.
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11. |
Mardy S et al. (2001) Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor.
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12. |
Houlden H et al. (2001) A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V.
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13. |
Chuang HH et al. (2001) Bradykinin and nerve growth factor release the capsaicin receptor from PtdIns(4,5)P2-mediated inhibition.
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14. |
Deppmann CD et al. (2008) A model for neuronal competition during development.
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15. |
None (2001) Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor.
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16. |
Toscano E et al. (2002) No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V.
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17. |
Miranda C et al. (2002) The M581V mutation, associated with a mild form of congenital insensitivity to pain with anhidrosis, causes partial inactivation of the NTRK1 receptor.
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18. |
Kuruvilla R et al. (2004) A neurotrophin signaling cascade coordinates sympathetic neuron development through differential control of TrkA trafficking and retrograde signaling.
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19. |
Counts SE et al. (2004) Reduction of cortical TrkA but not p75(NTR) protein in early-stage Alzheimer's disease.
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20. |
Mulloy JC et al. (2005) AML1-ETO fusion protein up-regulates TRKA mRNA expression in human CD34+ cells, allowing nerve growth factor-induced expansion.
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21. |
Mutoh T et al. (2005) Impairment of Trk-neurotrophin receptor by the serum of a patient with subacute sensory neuropathy.
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22. |
Lambiase A et al. (2005) Molecular basis for keratoconus: lack of TrkA expression and its transcriptional repression by Sp3.
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23. |
Wehrman T et al. (2007) Structural and mechanistic insights into nerve growth factor interactions with the TrkA and p75 receptors.
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24. |
Ugolini G et al. (2007) The function neutralizing anti-TrkA antibody MNAC13 reduces inflammatory and neuropathic pain.
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25. |
Suriu C et al. (2009) Skoura - a genetic island for congenital insensitivity to pain and anhidrosis among Moroccan Jews, as determined by a novel mutation in the NTRK1 gene.
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26. |
Nikoletopoulou V et al. (2010) Neurotrophin receptors TrkA and TrkC cause neuronal death whereas TrkB does not.
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27. |
Greco A et al. (1993) Characterization of the NTRK1 genomic region involved in chromosomal rearrangements generating TRK oncogenes.
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28. |
Robinson LL et al. (2003) The human fetal testis is a site of expression of neurotrophins and their receptors: regulation of the germ cell and peritubular cell population.
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29. |
Smeyne RJ et al. (1994) Severe sensory and sympathetic neuropathies in mice carrying a disrupted Trk/NGF receptor gene.
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30. |
Indo Y et al. (1996) Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis.
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31. |
Shatzky S et al. (2000) Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies.
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32. |
Hepburn L et al. (2014) Innate immunity. A Spaetzle-like role for nerve growth factor β in vertebrate immunity to Staphylococcus aureus.
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33. |
Gimm O et al. (1999) Mutation analysis reveals novel sequence variants in NTRK1 in sporadic human medullary thyroid carcinoma.
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34. |
Low PA et al. (1978) Congenital sensory neuropathy with selective loss of small myelinated fibers.
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35. |
Cordon-Cardo C et al. (1991) The trk tyrosine protein kinase mediates the mitogenic properties of nerve growth factor and neurotrophin-3.
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36. |
Loeb DM et al. (1991) The trk proto-oncogene rescues NGF responsiveness in mutant NGF-nonresponsive PC12 cell lines.
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37. |
Morris CM et al. (1991) Localization of the TRK proto-oncogene to human chromosome bands 1q23-1q24.
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38. |
Kaplan DR et al. (1991) The trk proto-oncogene product: a signal transducing receptor for nerve growth factor.
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39. |
Hempstead BL et al. (1991) High-affinity NGF binding requires coexpression of the trk proto-oncogene and the low-affinity NGF receptor.
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40. |
Miozzo M et al. (1990) Human TRK proto-oncogene maps to chromosome 1q32-q41.
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41. |
Coulier F et al. (1989) Mechanism of activation of the human trk oncogene.
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42. |
Bongarzone I et al. (1989) High frequency of activation of tyrosine kinase oncogenes in human papillary thyroid carcinoma.
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43. |
Martin-Zanca D et al. (1989) Molecular and biochemical characterization of the human trk proto-oncogene.
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44. |
Donaghy M et al. (1987) Hereditary sensory neuropathy with neurotrophic keratitis. Description of an autosomal recessive disorder with a selective reduction of small myelinated nerve fibres and a discussion of the classification of the hereditary sensory neuropathies.
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45. |
Martin-Zanca D et al. (1986) Molecular characterization of the human trk oncogene.
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46. |
Mitra G et al. (1987) Identification and biochemical characterization of p70TRK, product of the human TRK oncogene.
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47. |
Greco A et al. (1995) The DNA rearrangement that generates the TRK-T3 oncogene involves a novel gene on chromosome 3 whose product has a potential coiled-coil domain.
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48. |
Butti MG et al. (1995) A sequence analysis of the genomic regions involved in the rearrangements between TPM3 and NTRK1 genes producing TRK oncogenes in papillary thyroid carcinomas.
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49. |
Weier HU et al. (1995) Rapid physical mapping of the human trk protooncogene (NTRK1) to human chromosome 1q21-q22 by P1 clone selection, fluorescence in situ hybridization (FISH), and computer-assisted microscopy.
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50. |
Ip NY et al. (1993) Similarities and differences in the way neurotrophins interact with the Trk receptors in neuronal and nonneuronal cells.
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51. |
Ehrhard PB et al. (1993) Expression of functional trk protooncogene in human monocytes.
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52. |
Orphanet article
Orphanet ID 123961
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53. |
NCBI article
NCBI 4914
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54. |
OMIM.ORG article
Omim 191315
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Update: 14. August 2020