메뉴 건너뛰기




Volumn 51, Issue 10, 2009, Pages 833-837

Haploinsufficiency of the nerve growth factor beta gene in a 1p13 deleted female child with an insensitivity to pain

Author keywords

[No Author keywords available]

Indexed keywords

NERVE GROWTH FACTOR BETA SUBUNIT; NERVE GROWTH FACTOR;

EID: 70349576951     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2008.03173.x     Document Type: Article
Times cited : (8)

References (15)
  • 1
    • 0036249966 scopus 로고    scopus 로고
    • Assessment and evaluation of hereditary, sensory and autonomic neuropathies with autonomic and neurophysiological examinations
    • Hilz MJ. Assessment and evaluation of hereditary, sensory and autonomic neuropathies with autonomic and neurophysiological examinations. Clin Auton Res 2002; 12: 133-43.
    • (2002) Clin Auton Res , vol.12 , pp. 133-143
    • Hilz, M.J.1
  • 2
    • 0035093829 scopus 로고    scopus 로고
    • Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I
    • Dawkins JL, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA. Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nat Genet 2001; 27: 309-12.
    • (2001) Nat Genet , vol.27 , pp. 309-312
    • Dawkins, J.L.1    Hulme, D.J.2    Brahmbhatt, S.B.3    Auer-Grumbach, M.4    Nicholson, G.A.5
  • 3
    • 2342557998 scopus 로고    scopus 로고
    • Identification of a novel gene (HSN2) causing hereditary, sensory and autonomic neuropathy type II through the study of Canadian genetic isolates
    • Lafreniere RG, MacDonald ML, Dupe MP, et al. Identification of a novel gene (HSN2) causing hereditary, sensory and autonomic neuropathy type II through the study of Canadian genetic isolates. Am J Hum Genet 2004; 74: 1064-73.
    • (2004) Am J Hum Genet , vol.74 , pp. 1064-1073
    • Lafreniere, R.G.1    MacDonald, M.L.2    Dupe, M.P.3
  • 4
    • 0035097484 scopus 로고    scopus 로고
    • Familial dysautonomia is caused by mutations of the IKAP gene
    • Anderson SL, Coli R, Daly IW, et al. Familial dysautonomia is caused by mutations of the IKAP gene. Am J Hum Genet 2001; 68: 753-58.
    • (2001) Am J Hum Genet , vol.68 , pp. 753-758
    • Anderson, S.L.1    Coli, R.2    Daly, I.W.3
  • 5
    • 0035089807 scopus 로고    scopus 로고
    • Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia
    • Slaugenhaupt SA, Blumenfeld A, Gill SP, et al. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet 2001; 68: 598-605.
    • (2001) Am J Hum Genet , vol.68 , pp. 598-605
    • Slaugenhaupt, S.A.1    Blumenfeld, A.2    Gill, S.P.3
  • 6
    • 0033364823 scopus 로고    scopus 로고
    • Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor
    • Mardy S, Miura F, Matsuda I, et al. Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor. Am J Hum Genet 1999; 64: 1570-79.
    • (1999) Am J Hum Genet , vol.64 , pp. 1570-1579
    • Mardy, S.1    Miura, F.2    Matsuda, I.3
  • 7
    • 1942517847 scopus 로고    scopus 로고
    • A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception
    • Einarsdottir E, Carlsson A, Minde J, et.al. A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception. Hum Mol Genet 2004; 13: 799-805.
    • (2004) Hum Mol Genet , vol.13 , pp. 799-805
    • Einarsdottir, E.1    Carlsson, A.2    Minde, J.3
  • 8
    • 0013067786 scopus 로고
    • The nerve growth factor: thirty-five years later
    • Levi-Montalcini R. The nerve growth factor: thirty-five years later. EMBO J 1987; 6: 1145-54.
    • (1987) EMBO J , vol.6 , pp. 1145-1154
    • Levi-Montalcini, R.1
  • 9
    • 0025886463 scopus 로고
    • The low-affinity p75 nerve growth factor (NGF) receptor mediates NGF-induced tyrosine phosphorylation
    • Berg MM, Sternberg DW, Hempstead BL, Chao MV. The low-affinity p75 nerve growth factor (NGF) receptor mediates NGF-induced tyrosine phosphorylation. Proc Natl Acad Sci USA 1991; 88: 7106-10.
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 7106-7110
    • Berg, M.M.1    Sternberg, D.W.2    Hempstead, B.L.3    Chao, M.V.4
  • 10
    • 0025857391 scopus 로고
    • The trk proto-oncogene encodes a receptor for nerve growth factor
    • Klein R, Jing S, Nanduri V, O'Rourke E, Barbacid M. The trk proto-oncogene encodes a receptor for nerve growth factor. Cell 1991; 65: 189-97.
    • (1991) Cell , vol.65 , pp. 189-197
    • Klein, R.1    Jing, S.2    Nanduri, V.3    O'Rourke, E.4    Barbacid, M.5
  • 11
    • 0019161427 scopus 로고
    • Dorsal root ganglion neurons are destroyed by exposure in utero to maternal antibody to nerve growth factor
    • Johnson EM Jr, Gorin PD, Brandeis LD, Pearson J. Dorsal root ganglion neurons are destroyed by exposure in utero to maternal antibody to nerve growth factor. Science 1980; 210: 916-18.
    • (1980) Science , vol.210 , pp. 916-918
    • Johnson E.M., Jr.1    Gorin, P.D.2    Brandeis, L.D.3    Pearson, J.4
  • 12
    • 0019732817 scopus 로고
    • Somatic and behavioural postnatal effects of fetal injections of nerve growth factor antibodies in the rat
    • Aloe L, Cozzari C, Calissano P, Levi-Montalcini R. Somatic and behavioural postnatal effects of fetal injections of nerve growth factor antibodies in the rat. Nature 1981; 291: 413-35.
    • (1981) Nature , vol.291 , pp. 413-435
    • Aloe, L.1    Cozzari, C.2    Calissano, P.3    Levi-Montalcini, R.4
  • 13
    • 60249097681 scopus 로고    scopus 로고
    • A novel NGFB point mutation, a phenotype study of heterozygous patients
    • Published Online First: 1 May 2008. doi:10.1136/jnnp.2007.136051
    • Minde J, Andersson T, Fulford M, et al. A novel NGFB point mutation, a phenotype study of heterozygous patients. J Neurol Neurosurg Psychiatry. Published Online First: 1 May 2008. doi:10.1136/jnnp.2007.136051
    • J Neurol Neurosurg Psychiatry
    • Minde, J.1    Andersson, T.2    Fulford, M.3
  • 14
    • 17344371740 scopus 로고    scopus 로고
    • High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays
    • Pinkel D, Segraves R, Sudar D, et al. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 1998; 20: 207-11.
    • (1998) Nat Genet , vol.20 , pp. 207-211
    • Pinkel, D.1    Segraves, R.2    Sudar, D.3
  • 15
    • 0028297308 scopus 로고
    • Mice lacking nerve growth factor display perinatal loss of sensory and sympathetic neurons yet develop basal forebrain cholinergic neurons
    • Crowley C, Spencer SD, Nishimura MC, et al. Mice lacking nerve growth factor display perinatal loss of sensory and sympathetic neurons yet develop basal forebrain cholinergic neurons. Cell 1994; 76: 1001-11.
    • (1994) Cell , vol.76 , pp. 1001-1011
    • Crowley, C.1    Spencer, S.D.2    Nishimura, M.C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.