Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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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
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Kongenitale Schmerzunempfindlichkeit mit Anhidrose
NTRK1
Familiäres meduläres Schilddrüsenkarzinom
NTRK1
RET

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 external link
53.

NCBI article

NCBI 4914 external link
54.

OMIM.ORG article

Omim 191315 external link
Update: 14. August 2020
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