Associated Papers
Discovery of Novel RASGRF2 Fusions as a Therapeutic Target in Lung Adenocarcinoma of Never or Light Smokers.
Terashima Y et al.
Cancer Science, 2025
Atypical Presentation of Congenital Insensitivity to Pain With Anhidrosis Leading to Diagnostic Odyssey.
Higashimoto T et al.
Molecular Genetics & Genomic Medicine, 2024
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
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Lischka A et al.
Brain : a Journal of Neurology, 2023
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
Identification of novel variations in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis.
Li S et al.
Molecular Genetics & Genomic Medicine, 2021
NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study.
Echaniz-Laguna A et al.
Neurogenetics, 2021
Disclosure of secondary findings in exome sequencing of 2480 Japanese cancer patients.
Horiuchi Y et al.
Human Genetics, 2021
Clinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: a case report.
López-Cortés A et al.
Bmc Medical Genomics, 2020
Heterogeneity of clinical features and mutation analysis of NTRK1 in Han Chinese patients with congenital insensitivity to pain with anhidrosis.
Li N et al.
Journal of Pain Research, 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
Novel NTRK1 mutations associated with congenital insensitivity to pain with anhidrosis verified by functional studies.
Nam TS et al.
Journal of the Peripheral Nervous System : Jpns, 2017
Genetic Disorders with Dyshidrosis: Ectodermal Dysplasia, Incontinentia Pigmenti, Fabry Disease, and Congenital Insensitivity to Pain with Anhidrosis.
Wataya-Kaneda M
Current Problems in Dermatology, 2016
Functional characterization of NTRK1 mutations identified in melanoma.
Miranda C et al.
Genes, Chromosomes & Cancer, 2014
Oral and craniofacial manifestations and two novel missense mutations of the NTRK1 gene identified in the patient with congenital insensitivity to pain with anhidrosis.
Gao L et al.
Plos One, 2013
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009