|
HSAN Type IV
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Our findings imply that the genetic variations of the nerve growth factor-tropomyosin-related kinase A pathway play an important role in congenital insensitivity to pain with anhidrosis.
|
25316729 |
2015 |
|
HSAN Type IV
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our findings imply that the genetic variations of the nerve growth factor-tropomyosin-related kinase A pathway play an important role in congenital insensitivity to pain with anhidrosis.
|
25316729 |
2015 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal-recessive disease caused by mutations in the NTRK1 gene.
|
22957891 |
2014 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Congenital insensitivity to pain with anhidrosis (CIPA) is an autosomal recessive genetic disorder caused by loss-of-function mutations in NTRK1, the gene encoding a receptor tyrosine kinase for NGF, TrkA.
|
24494678 |
2014 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we report the first twins affected with HSAN IV and the observation that periodontal sensation is not affected by mutation in NTRK1.
|
24631696 |
2014 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This report extends the spectrum of NTRK1 mutations observed in patients diagnosed with CIPA and provides additional insight for clinical and molecular diagnosis.
|
23799134 |
2013 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel nonsense and frameshift NTRK1 gene mutations in Chinese patients with congenital insensitivity to pain with anhidrosis.
|
22653642 |
2012 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.
|
22302274 |
2012 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The clinical diagnosis of CIPA was confirmed by the detection of two splice-site mutations in NTRK1, revealing that the patient was a compound heterozygote at this gene.
|
21708027 |
2011 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The relationship between NGF and pain is supported by genetic evidence: mutations in the NGF TrkA receptor in patients affected by an hereditary rare disease (Hereditary Sensory and Autonomic Neuropathy type IV, HSAN IV) determine a congenital form of severe pain insensitivity, with mental retardation, while a mutation in NGFB gene, leading to the aminoacid substitution R100W in mature NGF, determines a similar loss of pain perception, without overt cognitive neurological defects (HSAN V).
|
21387003 |
2011 |
|
HSAN Type IV
|
0.800 |
Biomarker
|
disease |
BEFREE |
Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV) is a rare autosomal recessive disorder caused by a defect in neurotrophic tyrosine kinase receptor and nerve growth factor, as reported in previous studies.
|
20647579 |
2010 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report the clinical course of a 7-year-old girl with CIPA and proven NTRK1 mutation.
|
19089473 |
2009 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study extends the spectrum of mutations in the NTRK1 gene and confirms that Korean patients with CIPA have the same genetic background as other ethnicities.
|
19618435 |
2009 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
|
19651702 |
2009 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Congenital insensitivity to pain with anhidrosis (CIPA) is a genetic disorder due to loss-of-function mutations in the NTRK1 (also known as TRKA) gene encoding TrkA, a receptor tyrosine kinase for NGF.
|
19201660 |
2009 |
|
HSAN Type IV
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The less typical patient as well as one HSAN IV patient revealed no NTRK1 mutation.
|
18077166 |
2008 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We present detailed description of a rare, mild HSAN4 phenotype associated with two novel NTRK1 mutations.
|
18657423 |
2008 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This report broadens the spectrum of mutations in NTRK1 that cause HSAN IV and demonstrates a founder mutation in the Turkish population.
|
18322713 |
2008 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The less typical patient as well as one HSAN IV patient revealed no NTRK1 mutation.
|
18077166 |
2008 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
The less typical patient as well as one HSAN IV patient revealed no NTRK1 mutation.
|
18077166 |
2008 |
|
HSAN Type IV
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The less typical patient as well as one HSAN IV patient revealed no NTRK1 mutation.
|
18077166 |
2008 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV.
|
16373086 |
2006 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This report extends the spectrum of NTRK1 mutations observed in patients diagnosed with HSAN IV.
|
16373086 |
2006 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report the clinical course in three sibs with CIPA and proven NTRK1 gene mutations with a follow-up over a 25-year period in one of them.
|
16138253 |
2005 |
|
HSAN Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hereditary sensory and autonomic neuropathy type IV (HSAN IV) is caused by mutations in the tyrosin kinase A (TrkA) gene, encoding for the high-affinity receptor of nerve growth factor (NGF).
|
15695606 |
2005 |