Hereditary Sensory Autonomic Neuropathy, Type 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A point mutation (R100W) in the NGFB gene was found in patients with Hereditary Sensory and Autonomic Neuropathy type V (HSAN V), which leads to pain insensitivity.
|
30612733 |
2019 |
Hereditary Sensory Autonomic Neuropathy, Type 5
|
0.800 |
Biomarker
|
disease |
BEFREE |
To prevent the NGF pain-inducing collateral effects, thus avoiding the necessity for local brain injection, we developed painless NGF (hNGFp), based on the human genetic disease Hereditary Sensory and Autonomic Neuropathy type V (HSAN V). hNGFp has similar neurotrophic activity as wild type human NGF, but its pain sensitizing activity is tenfold lower.
|
30391352 |
2019 |
Hereditary Sensory Autonomic Neuropathy, Type 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The physiological function of NGF as a pain mediator is altered in patients with Hereditary Sensory and Autonomic Neuropathy type V (HSAN V), caused by the 661C>T transition in the <i>Ngf</i> gene, resulting in the R100W missense mutation in mature NGF.
|
31685654 |
2019 |
Hereditary Sensory Autonomic Neuropathy, Type 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We describe a novel NGF mutation in an individual with typical HSAN5 findings.
|
30296891 |
2019 |
Hereditary Sensory Autonomic Neuropathy, Type 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Although those HSAN V patients associated with the NGF<sup>R100W</sup> mutation suffer from severe loss of deep pain, bone fractures and joint destruction, interestingly patients with the NGF<sup>R100W</sup> mutation do not show apparent cognitive deficits, suggesting important trophic support function is preserved.
|
30632491 |
2019 |
Hereditary Sensory Autonomic Neuropathy, Type 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A missense mutation (R100W) in the beta-NGF gene was found in hereditary sensory autonomic neuropathy V (HSAN V) patients with severe loss of pain perception but without overt cognitive impairment.
|
30524266 |
2018 |
Hereditary Sensory Autonomic Neuropathy, Type 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Generation of the human induced pluripotent stem cell line UKWNLi002-A from dermal fibroblasts of a woman with a heterozygous c.608 C>T (p.Thr203Met) mutation in exon 3 of the nerve growth factor gene potentially associated with hereditary sensory and autonomic neuropathy type 5.
|
30384131 |
2018 |
Hereditary Sensory Autonomic Neuropathy, Type 5
|
0.800 |
Biomarker
|
disease |
BEFREE |
The integration of both TrkA and p75<sup>NTR</sup> signaling thus appears to regulate neuroplastic effects of NGF in peripheral nociception.<b>SIGNIFICANCE STATEMENT</b> In the present study, we characterized the naturally occurring nerve growth factor NGF<sup>R100W</sup> mutant that is associated with hereditary sensory and autonomic neuropathy type V. We have demonstrated for the first time that NGF<sup>R100W</sup> retains trophic support capability through TrkA, but fails to engage p75<sup>NTR</sup> signaling pathways.
|
29483280 |
2018 |
Hereditary Sensory Autonomic Neuropathy, Type 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recently a homozygous missense mutation (R100W) in the NGF gene has been identified in HSAN V patients.
|
24494679 |
2014 |
Hereditary Sensory Autonomic Neuropathy, Type 5
|
0.800 |
Biomarker
|
disease |
BEFREE |
We will review neuropathies and clinical presentations that result from the disruption of NGF signalling in HSAN type IV and HSAN type V and review current advances in developing anti-NGF therapy for the clinical management of pain.
|
23157347 |
2013 |
Hereditary Sensory Autonomic Neuropathy, Type 5
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.
|
22302274 |
2012 |
Hereditary Sensory Autonomic Neuropathy, Type 5
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
It is concluded that the HSAN4 and HSAN5 phenotypes are parts of a phenotypic spectrum caused by changes in the NGF/TRKA signalling pathway.
|
20978020 |
2011 |
Hereditary Sensory Autonomic Neuropathy, Type 5
|
0.800 |
Biomarker
|
disease |
BEFREE |
It is concluded that the HSAN4 and HSAN5 phenotypes are parts of a phenotypic spectrum caused by changes in the NGF/TRKA signalling pathway.
|
20978020 |
2011 |
Hereditary Sensory Autonomic Neuropathy, Type 5
|
0.800 |
Biomarker
|
disease |
BEFREE |
These results provide a basis for elucidating the mechanisms underlying the clinical manifestations of HSAN V patients, and provide a basis for the development of "painless" hNGF molecules with therapeutic potential.
|
19945432 |
2010 |
Hereditary Sensory Autonomic Neuropathy, Type 5
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Nerve growth factor R221W responsible for insensitivity to pain is defectively processed and accumulates as proNGF.
|
19038341 |
2009 |
Hereditary Sensory Autonomic Neuropathy, Type 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A family with neurological findings similar to hereditary sensory and autonomic neuropathy type V having a point mutation in the nerve growth factor beta (NGFB) gene was recently described.
|
18420729 |
2009 |
Hereditary Sensory Autonomic Neuropathy, Type 5
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception.
|
14976160 |
2004 |
Hereditary Sensory Autonomic Neuropathy, Type 5
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception.
|
14976160 |
2004 |
Hereditary Sensory Autonomic Neuropathy, Type 5
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Structure of nerve growth factor complexed with the shared neurotrophin receptor p75.
|
15131306 |
2004 |
Hereditary Sensory Autonomic Neuropathy, Type 5
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception.
|
14976160 |
2004 |
Hereditary Sensory Autonomic Neuropathy, Type 5
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception.
|
14976160 |
2004 |
Hereditary Sensory Autonomic Neuropathy, Type 5
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We have studied a large Swedish family with a mutation in the nerve growth factor beta (NGFB) gene causing insensitivity to deep pain without anhidrosis (hereditary sensory and autonomic neuropathy, type V; HSAN V).
|
15468048 |
2004 |
Hereditary Sensory Autonomic Neuropathy, Type 5
|
0.800 |
Biomarker
|
disease |
BEFREE |
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.
|
12210794 |
2002 |
Hereditary Sensory Autonomic Neuropathy, Type 5
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Targeted mutation of the gene encoding the low affinity NGF receptor p75 leads to deficits in the peripheral sensory nervous system.
|
1317267 |
1992 |
Hereditary Sensory Autonomic Neuropathy, Type 5
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|