Neurotropic Tyrosine Kinase Receptor Type 2 Deficiency

2020 ◽  
Author(s):  
Keyword(s):  
Tyrosine Kinase ◽  
Receptor Type ◽  
Tyrosine Kinase Receptor

Association study of neurotrophic tyrosine kinase receptor type 2 (NTRK2) and childhood-onset mood disorders

2004 ◽  
Vol 132B (1) ◽  
pp. 90-95 ◽  
Author(s):  
Jennifer H. Adams ◽  
Karen G. Wigg ◽  
Nicole King ◽  
Irina Burcescu ◽  
Ágnes Vetró ◽  
...  
Keyword(s):  
Tyrosine Kinase ◽  
Association Study ◽  
Mood Disorders ◽  
Receptor Type ◽  
Tyrosine Kinase Receptor ◽  
Childhood Onset

The human gene for neurotrophic tyrosine kinase receptor type 2 (NTRK2) is located on chromosome 9 but is not the familial dysautonomia gene

Genomics ◽  
1995 ◽  
Vol 25 (3) ◽  
pp. 730-732 ◽  
Author(s):  
Susan A. Slaugenhaupt ◽  
Anat Blumenfeld ◽  
Christopher B. Liebert ◽  
James Mull ◽  
Diane E. Lucente ◽  
...  
Keyword(s):  
Tyrosine Kinase ◽  
Human Gene ◽  
Familial Dysautonomia ◽  
Chromosome 9 ◽  
Receptor Type ◽  
Tyrosine Kinase Receptor

Genetic Association of Neurotrophic Tyrosine Kinase Receptor Type 2 (NTRK2) With Alzheimer's Disease

2008 ◽  
Vol 147B (3) ◽  
pp. 363-369 ◽  
Author(s):  
Zuomin Chen ◽  
Micah S. Simmons ◽  
Rodney T. Perry ◽  
Howard W. Wiener ◽  
Lindy E. Harrell ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Tyrosine Kinase ◽  
Genetic Association ◽  
Receptor Type ◽  
Tyrosine Kinase Receptor

scholarly journals Identification of a novel nonsense mutation of the neurotrophic tyrosine kinase receptor type 1 gene in two siblings with congenital insensitivity to pain with anhidrosis

2017 ◽  
Vol 45 (2) ◽  
pp. 549-555 ◽  
Author(s):  
Ting Wang ◽  
Haibo Li ◽  
Jingjing Xiang ◽  
Bin Wei ◽  
Qin Zhang ◽  
...  
Keyword(s):  
Tyrosine Kinase ◽  
Nonsense Mutation ◽  
Mutation Screening ◽  
Receptor Type ◽  
Tyrosine Kinase Receptor ◽  
Site Mutation ◽  
Congenital Insensitivity ◽  
Congenital Insensitivity To Pain ◽  
Insensitivity To Pain

Objective To explore the aetiology of congenital insensitivity to pain with anhidrosis (CIPA) in two Chinese siblings with typical CIPA symptoms including insensitivity to pain, inability to sweat, and self-mutilating behaviours. Methods Clinical examination and genetic testing were conducted of all available family members, and the findings were used to create a pedigree. Mutation screening using PCR amplification and DNA Sanger sequencing of the entire neurotrophic tyrosine kinase receptor type 1 gene ( NTRK1) including intron–exon boundaries was used to identify mutations associated with CIPA. Results A novel nonsense mutation (c.7C > T, p. Arg3Ter) and a known splice-site mutation (c.851-33 T > A) were detected in NTRK1 and shown to be associated with CIPA. Conclusion Our findings expand the known mutation spectrum of NTRK1 and provide insights into the aetiology of CIPA.

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