Associated Papers
Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature.
Cho JH et al.
Molecular Genetics & Genomic Medicine, 2024
Human TrkAR649W mutation impairs nociception, sweating and cognitive abilities: a mouse model of HSAN IV.
Pacifico P et al.
Human Molecular Genetics, 2023
Novel Gross Deletion Mutations in NTRK1 Gene Associated With Congenital Insensitivity to Pain With Anhidrosis.
Li L et al.
Frontiers in Pediatrics, 2021
Investigation of a Novel NTRK1 Variation Causing Congenital Insensitivity to Pain With Anhidrosis.
Yang K et al.
Frontiers in Genetics, 2021
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review.
Liu Z et al.
The Journal of International Medical Research, 2018
Exploring Missense Mutations in Tyrosine Kinases Implicated with Neurodegeneration.
Sami N et al.
Molecular Neurobiology, 2017
A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV).
Shaikh SS et al.
Human Mutation, 2017
Mutations in TrkA Causing Congenital Insensitivity to Pain with Anhidrosis (CIPA) Induce Misfolding, Aggregation, and Mutation-dependent Neurodegeneration by Dysfunction of the Autophagic Flux.
Franco ML et al.
The Journal of Biological Chemistry, 2016
Functional characterization of NTRK1 mutations identified in melanoma.
Miranda C et al.
Genes, Chromosomes & Cancer, 2014
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
Congenital insensitivity to pain with anhydrosis in a Malaysian family: a genetic analysis.
Shalimar A et al.
Journal of Orthopaedic Surgery (hong Kong), 2007
Structural analysis of leucine-rich-repeat variants in proteins associated with human diseases.
Matsushima N et al.
Cellular and Molecular Life Sciences : Cmls, 2005
RET and NTRK1 proto-oncogenes in human diseases.
Alberti L et al.
Journal of Cellular Physiology, 2003
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
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