Novel and novel de novo mutations in NTRK1 associated with congenital insensitivity to pain with anhidrosis: a case report (Q36151639)

12 August 2017

0 references

Novel and novel de novo mutations in NTRK1 associated with congenital insensitivity to pain with anhidrosis: a case report (English)

1 reference

congenital insensitivity to pain with anhidrosis

12 August 2017

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0 references

author name string

Qingli Wang

1

1 reference

12 August 2017

Shanna Guo

2

1 reference

12 August 2017

Guangyou Duan

3

1 reference

12 August 2017

Guifang Xiang

4

1 reference

12 August 2017

Ying Ying

5

1 reference

12 August 2017

Yuhao Zhang

6

1 reference

12 August 2017

Xianwei Zhang

7

1 reference

12 August 2017

language of work or name

English

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publication date

1 May 2015

1 reference

12 August 2017

1 reference

12 August 2017

94

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12 August 2017

19

1 reference

12 August 2017

e871

1 reference

Sodium channel genes in pain-related disorders: phenotype-genotype associations and recommendations for clinical use.

12 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4602583

Oral and craniofacial manifestations and two novel missense mutations of the NTRK1 gene identified in the patient with congenital insensitivity to pain with anhidrosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4602583

Nerve growth factor and the physiology of pain: lessons from congenital insensitivity to pain with anhidrosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4602583

Mechanisms of disease in hereditary sensory and autonomic neuropathies

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4602583

Interactions between the immune and nervous systems in pain

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4602583

Neural regulation of innate immunity: a coordinated nonspecific host response to pathogens

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4602583

Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4602583

TrkAIII. A novel hypoxia-regulated alternative TrkA splice variant of potential physiological and pathological importance.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4602583

TrkA alternative splicing: a regulated tumor-promoting switch in human neuroblastoma

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4602583

Congenital insensitivity to pain with anhydrosis. A unique syndrome in two male siblings

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4602583

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4602583

Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4602583

Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4602583

Severe sensory and sympathetic neuropathies in mice carrying a disrupted Trk/NGF receptor gene.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4602583

Structural and functional properties of the TRK family of neurotrophin receptors

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4602583

Congenital insensitivity to pain with anhidrosis: morphological and morphometrical studies on the skin and peripheral nerves

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4602583

Tissue-specific alternative splicing generates two isoforms of the trkA receptor.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4602583

Eccrine sweat glands are not innervated in hereditary sensory neuropathy type IV. An electron-microscopic study

2 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25984678

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

ANATOMIC CHANGES IN CONGENITAL INSENSITIVITY TO PAIN. ABSENCE OF SMALL PRIMARY SENSORY NEURONS IN GANGLIA, ROOTS, AND LISSAUER'S TRACT

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25984678

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1097/MD.0000000000000871

1 reference

12 August 2017

1 reference

12 August 2017

1 reference