Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

High affinity nerve growth factor receptor

The NTRK1 gene encodes a tyrosine kinase receptor involved in signal transduction. Mutations cause autosomal dominant congenital insensitivity to pain with anhidrosis. Chimeric gene fusions (NTRK1/TFG) cause familial medullary thyroid cancer.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Congenital insensitivity to pain with anhidrosis
NTRK1
Familial medullary thyroid cancer
NTRK1
RET

References:

1.

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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2.

Deppmann CD et al. (2008) A model for neuronal competition during development.

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3.

Smeyne RJ et al. (1994) Severe sensory and sympathetic neuropathies in mice carrying a disrupted Trk/NGF receptor gene.

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4.

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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5.

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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6.

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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7.

Gimm O et al. (1999) Mutation analysis reveals novel sequence variants in NTRK1 in sporadic human medullary thyroid carcinoma.

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8.

Low PA et al. (1978) Congenital sensory neuropathy with selective loss of small myelinated fibers.

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9.

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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10.

Loeb DM et al. (1991) The trk proto-oncogene rescues NGF responsiveness in mutant NGF-nonresponsive PC12 cell lines.

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11.

Morris CM et al. (1991) Localization of the TRK proto-oncogene to human chromosome bands 1q23-1q24.

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12.

Kaplan DR et al. (1991) The trk proto-oncogene product: a signal transducing receptor for nerve growth factor.

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13.

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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14.

Miozzo M et al. (1990) Human TRK proto-oncogene maps to chromosome 1q32-q41.

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15.

Coulier F et al. (1989) Mechanism of activation of the human trk oncogene.

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16.

Bongarzone I et al. (1989) High frequency of activation of tyrosine kinase oncogenes in human papillary thyroid carcinoma.

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17.

Martin-Zanca D et al. (1989) Molecular and biochemical characterization of the human trk proto-oncogene.

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18.

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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19.

Martin-Zanca D et al. (1986) Molecular characterization of the human trk oncogene.

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20.

Mitra G et al. (1987) Identification and biochemical characterization of p70TRK, product of the human TRK oncogene.

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21.

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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22.

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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23.

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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24.

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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25.

Greco A et al. (1993) Characterization of the NTRK1 genomic region involved in chromosomal rearrangements generating TRK oncogenes.

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26.

Ehrhard PB et al. (1993) Expression of functional trk protooncogene in human monocytes.

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27.

None (1996) p75NTR: a receptor after all.

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28.

Greco A et al. (1996) Genomic organization of the human NTRK1 gene.

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29.

Carter BD et al. (1997) Neurotrophins live or let die: does p75NTR decide?

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30.

Greco A et al. (1999) A novel NTRK1 mutation associated with congenital insensitivity to pain with anhidrosis.

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31.

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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32.

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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33.

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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34.

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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35.

Bibel M et al. (2000) Neurotrophins: key regulators of cell fate and cell shape in the vertebrate nervous system.

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36.

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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37.

Houlden H et al. (2001) A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V.

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38.

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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39.

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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40.

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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41.

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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42.

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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43.

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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44.

Counts SE et al. (2004) Reduction of cortical TrkA but not p75(NTR) protein in early-stage Alzheimer's disease.

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45.

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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46.

Mutoh T et al. (2005) Impairment of Trk-neurotrophin receptor by the serum of a patient with subacute sensory neuropathy.

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47.

Lambiase A et al. (2005) Molecular basis for keratoconus: lack of TrkA expression and its transcriptional repression by Sp3.

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48.

Wehrman T et al. (2007) Structural and mechanistic insights into nerve growth factor interactions with the TrkA and p75 receptors.

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49.

Ugolini G et al. (2007) The function neutralizing anti-TrkA antibody MNAC13 reduces inflammatory and neuropathic pain.

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50.

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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51.

Nikoletopoulou V et al. (2010) Neurotrophin receptors TrkA and TrkC cause neuronal death whereas TrkB does not.

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52.

Orphanet article

Orphanet ID 123961 [^]
53.

NCBI article

NCBI 4914 [^]
54.

OMIM.ORG article

Omim 191315 [^]
55.

Wikipedia article

Wikipedia EN (Tropomyosin_receptor_kinase_A) [^]
Update: April 29, 2019