Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor.
about
c.1810C>T polymorphism of NTRK1 gene is associated with reduced survival in neuroblastoma patients.A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis.Mechanisms of disease in hereditary sensory and autonomic neuropathies.Update Review and Clinical Presentation in Congenital Insensitivity to Pain and Anhidrosis.Neurotrophins and peripheral neuropathies.Nerve growth factor, pain, itch and inflammation: lessons from congenital insensitivity to pain with anhidrosis.Nerve growth factor and the physiology of pain: lessons from congenital insensitivity to pain with anhidrosis.Mutations in TrkA Causing Congenital Insensitivity to Pain with Anhidrosis (CIPA) Induce Misfolding, Aggregation, and Mutation-dependent Neurodegeneration by Dysfunction of the Autophagic Flux.Novel NTRK1 mutations associated with congenital insensitivity to pain with anhidrosis verified by functional studies.Congenital Insensitivity to Pain and Anhydrosis (CIPA) Syndrome; A Report of 4 Cases.Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.Congenital Insensitivity to Pain without Anhidrosis: Orodental Problems and Management.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.A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV)No mutation in the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with hereditary sensory and autonomic neuropathy type V.Loss of TRPV1-expressing sensory neurons reduces spinal mu opioid receptors but paradoxically potentiates opioid analgesia.A-type voltage-gated K+ currents influence firing properties of isolectin B4-positive but not isolectin B4-negative primary sensory neurons.Proposal for a standardized protocol for the systematic orofacial examination of patients with Hereditary Sensory Radicular Neuropathy.Could Congenital Insensitivity to Pain with Anhidrosis Be Misdiagnosed as Papillon-Lefèvre Syndrome?Novel NTRK1 Frameshift Mutation in Congenital Insensitivity to Pain With Anhidrosis.A novel role of suppressor of cytokine signaling-2 in the regulation of TrkA neurotrophin receptor biology.Congenital Insensitivity to Pain and Anhydrosis Syndrome.
P2860
Q33517966-3DBEF1C1-49D4-4E6C-B2BF-3605C71C89DFQ33943860-B3BDB6A1-C969-49F0-89D9-94452F0A7F4BQ34249122-616E3E1A-DBDE-447A-A2E9-BF10A09C7172Q36249565-F56BAB20-7282-470D-8FFF-9EF3B1C4F2E1Q36654500-C5885C18-88C7-48C4-BF7D-D432AC37F1BEQ37803223-8F0032D0-6C7D-4834-8639-8424ACF229BFQ38033634-8A4C6E35-E6A8-4030-8F2F-DA320073CD07Q39464247-8A1A43CC-4B54-4D77-BF12-C0B1B624A6D3Q40069818-3083DCD2-3842-44C3-956C-3072630EF191Q40257838-9378C8D9-9DD8-4F73-A4D7-EDD346DCD6F6Q40594499-C6F70E44-6A76-44B0-830C-4B9A835C41E5Q40957306-7D855D0C-9A13-4613-9A4C-F08F5B315FCFQ41775115-B8F6D591-15FB-4999-BF34-EFAF705C961CQ42026320-D7B381FD-3A96-4FD3-8430-B1E2534F3BABQ44124974-6CB5A684-0956-4C4F-AD3F-E5632FBD4789Q44351811-3BBDB660-9DE6-4CFF-8657-30F95954AA67Q45221712-07C04EA0-63C6-412D-A521-19819CB79C36Q48657927-98D81566-A0C9-4DC5-9492-9718BE4BD9DDQ49981791-4561FB33-242A-4319-87AC-1FB622175B97Q51107047-3316E083-04CE-4CEB-95A3-4888C238EFBFQ54380745-2A10B3E3-1C7C-413C-8126-8592983AB130Q55127976-CCF22A40-605A-4401-BC53-F954B3034F4A
P2860
Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor.
description
2001 nî lūn-bûn
@nan
2001 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Congenital insensitivity to pa ...... inase for nerve growth factor.
@ast
Congenital insensitivity to pa ...... inase for nerve growth factor.
@en
type
label
Congenital insensitivity to pa ...... inase for nerve growth factor.
@ast
Congenital insensitivity to pa ...... inase for nerve growth factor.
@en
prefLabel
Congenital insensitivity to pa ...... inase for nerve growth factor.
@ast
Congenital insensitivity to pa ...... inase for nerve growth factor.
@en
P2093
P356
P1476
Congenital insensitivity to pa ...... inase for nerve growth factor.
@en
P2093
P304
P356
10.1093/HMG/10.3.179
P577
2001-02-01T00:00:00Z