Associated Papers
Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy.
Yuan JH et al.
Frontiers in Neurology, 2022
Novel Gross Deletion Mutations in NTRK1 Gene Associated With Congenital Insensitivity to Pain With Anhidrosis.
Li L et al.
Frontiers in Pediatrics, 2021
33748046 (PubMed )
Supplement: Table_2.XLSX › Sheet2
Wilson Disease Comorbid with Hereditary Sensory Autonomic Neuropathy Type IV and Gitelman Syndrome.
Kim JY et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2019
Exploring Missense Mutations in Tyrosine Kinases Implicated with Neurodegeneration.
Sami N et al.
Molecular Neurobiology, 2017
Functional characterization of NTRK1 mutations identified in melanoma.
Miranda C et al.
Genes, Chromosomes & Cancer, 2014
RET and NTRK1 proto-oncogenes in human diseases.
Alberti L et al.
Journal of Cellular Physiology, 2003
Gain of function mutations of RTK conserved residues display differential effects on NTRK1 kinase activity.
Miranda C et al.
Oncogene, 2002
The M581V mutation, associated with a mild form of congenital insensitivity to pain with anhidrosis, causes partial inactivation of the NTRK1 receptor.
Miranda C et al.
The Journal of Investigative Dermatology, 2002
Genetics of congenital insensitivity to pain with anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV. Clinical, biological and molecular aspects of mutations in TRKA(NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor.
Indo Y
Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2002
Novel pathogenic mechanisms of congenital insensitivity to pain with anhidrosis genetic disorder unveiled by functional analysis of neurotrophic tyrosine receptor kinase type 1/nerve growth factor receptor mutations.
Miranda C et al.
The Journal of Biological Chemistry, 2002
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.
Indo Y
Human Mutation, 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.
Mardy S et al.
Human Molecular Genetics, 2001
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.
Miura Y et al.
Human Genetics, 2000
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