|
rs11466112
|
|
|
0.710 |
GeneticVariation |
BEFREE |
To test this hypothesis and provide a mechanistic basis to the HSAN V phenotype, we generated transgenic mice harboring the human 661C>T mutation in the <i>Ngf</i> gene and studied both males and females.
|
31685654 |
2019 |
|
rs748653984
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The recent discovery of a point mutation leading to a change from arginine to tryptophan at residue 100 in the mature NGFβ sequence (NGF<sup>R100W</sup>) in patients with hereditary sensory and autonomic neuropathy type V (HSAN V) made it possible to distinguish the signaling mechanisms that lead to two functionally different outcomes of NGF: trophic versus nociceptive.
|
29483280 |
2018 |
|
rs778056858
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The recent discovery of a point mutation leading to a change from arginine to tryptophan at residue 100 in the mature NGFβ sequence (NGF<sup>R100W</sup>) in patients with hereditary sensory and autonomic neuropathy type V (HSAN V) made it possible to distinguish the signaling mechanisms that lead to two functionally different outcomes of NGF: trophic versus nociceptive.
|
29483280 |
2018 |
|
rs748653984
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Recently a homozygous missense mutation (R100W) in the NGF gene has been identified in HSAN V patients.
|
24494679 |
2014 |
|
rs778056858
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Recently a homozygous missense mutation (R100W) in the NGF gene has been identified in HSAN V patients.
|
24494679 |
2014 |
|
rs748653984
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Recently, a missense point mutation was found in the NGFB gene (C661T, leading to the aminoacid substitution R100W) of individuals affected by a form of hereditary loss of pain perception (hereditary sensory and autonomic neuropathy type V, HSAN V).
|
19945432 |
2010 |
|
rs778056858
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Recently, a missense point mutation was found in the NGFB gene (C661T, leading to the aminoacid substitution R100W) of individuals affected by a form of hereditary loss of pain perception (hereditary sensory and autonomic neuropathy type V, HSAN V).
|
19945432 |
2010 |
|
rs1272434944
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our results suggest that the p.R121W NGF mutation causes HSAN5 through negating the ability of furin to cleave proNGF to produce NGF-β.
|
30296891 |
2019 |
|
rs769190598
|
|
|
0.010 |
GeneticVariation |
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 |