Associated Papers
First instance of pain in congenital pain insensitivity with anhidrosis.
Itmaiza MN et al.
Clinical Neurology and Neurosurgery, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
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
Exploring Missense Mutations in Tyrosine Kinases Implicated with Neurodegeneration.
Sami N et al.
Molecular Neurobiology, 2017
Nerve growth factor and the physiology of pain: lessons from congenital insensitivity to pain with anhidrosis.
Indo Y
Clinical Genetics, 2012
Novel nonsense and frameshift NTRK1 gene mutations in Chinese patients with congenital insensitivity to pain with anhidrosis.
Li M et al.
Genetics and Molecular Research : Gmr, 2012
RET and NTRK1 proto-oncogenes in human diseases.
Alberti L et al.
Journal of Cellular Physiology, 2003
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
Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.
Mardy S et al.
American Journal of Human Genetics, 1999
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