(Q34389720)

English

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

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scholarly article

1 reference

Europe PubMed Central

1 August 2017

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

1 reference

Europe PubMed Central

1 August 2017

congenital disorder

0 references

congenital insensitivity to pain with anhidrosis

0 references

author name string

Mardy S

1

1 reference

Europe PubMed Central

1 August 2017

Miura Y

2

1 reference

Europe PubMed Central

1 August 2017

Endo F

3

1 reference

Europe PubMed Central

1 August 2017

Matsuda I

4

1 reference

Europe PubMed Central

1 August 2017

Sztriha L

5

1 reference

Europe PubMed Central

1 August 2017

Frossard P

6

1 reference

Europe PubMed Central

1 August 2017

Moosa A

7

1 reference

Europe PubMed Central

1 August 2017

Ismail EA

8

1 reference

Europe PubMed Central

1 August 2017

Macaya A

9

1 reference

Europe PubMed Central

1 August 2017

Andria G

10

1 reference

Europe PubMed Central

1 August 2017

Toscano E

11

1 reference

Europe PubMed Central

1 August 2017

Gibson W

12

1 reference

Europe PubMed Central

1 August 2017

Graham GE

13

1 reference

Europe PubMed Central

1 August 2017

Indo Y

14

1 reference

Europe PubMed Central

1 August 2017

language of work or name

0 references

publication date

1 June 1999

1 reference

Europe PubMed Central

1 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

1 August 2017

64

1 reference

Europe PubMed Central

1 August 2017

1570-1579

1 reference

Europe PubMed Central

1 August 2017

6

1 reference

Europe PubMed Central

1 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377900

6 July 2018

Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377900

6 July 2018

Structure and organization of the human TRKA gene encoding a high affinity receptor for nerve growth factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377900

6 July 2018

Genomic organization of the human NTRK1 gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377900

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377900

6 July 2018

Tyrosine 785 is a major determinant of Trk--substrate interaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377900

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377900

6 July 2018

Identification of Trk binding sites for SHC and phosphatidylinositol 3'-kinase and formation of a multimeric signaling complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377900

6 July 2018

Functions of the neurotrophins during nervous system development: what the knockouts are teaching us.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377900

6 July 2018

Neuronal differentiation signals are controlled by nerve growth factor receptor/Trk binding sites for SHC and PLC gamma.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377900

6 July 2018

Trk receptors use redundant signal transduction pathways involving SHC and PLC-gamma 1 to mediate NGF responses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377900

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377900

6 July 2018

Cloning and chromosomal localization of the human TRK-B tyrosine kinase receptor gene (NTRK2)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377900

6 July 2018

Functional interactions of neurotrophins and neurotrophin receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377900

6 July 2018

Structural and functional properties of the TRK family of neurotrophin receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377900

6 July 2018

Physiology of nerve growth factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377900

6 July 2018

The nerve growth factor: thirty-five years later

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377900

6 July 2018

Molecular and biochemical characterization of the human trk proto-oncogene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377900

6 July 2018

A human oncogene formed by the fusion of truncated tropomyosin and protein tyrosine kinase sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377900

6 July 2018

Expression of the trk proto-oncogene is restricted to the sensory cranial and spinal ganglia of neural crest origin in mouse development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377900

6 July 2018

Construction of T-vectors, a rapid and general system for direct cloning of unmodified PCR products

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377900

6 July 2018

Sequence of two alleles responsible for Gaucher disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377900

6 July 2018

The trk Proto-Oncogene Product: a Signal Transducing Receptor for Nerve Growth Factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377900

6 July 2018

The trk proto-oncogene encodes a receptor for nerve growth factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377900

6 July 2018

Localization of the TRK proto-oncogene to human chromosome bands 1q23-1q24

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377900

6 July 2018

A double mutation in exon 6 of the beta-hexosaminidase alpha subunit in a patient with the B1 variant of Tay-Sachs disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377900

6 July 2018

Nerve growth factor promotes the activation of phosphatidylinositol 3-kinase and its association with the trk tyrosine kinase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377900

6 July 2018

Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377900

27 October 2018

Congenital insensitivity to pain with anhidrosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377900

27 October 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10330344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human TRK proto-oncogene maps to chromosome 1q32-q41

1 reference

https://pubmed.ncbi.nlm.nih.gov/10330344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel modular mosaic of cell adhesion motifs in the extracellular domains of the neurogenic trk and trkB tyrosine kinase receptors

1 reference

https://pubmed.ncbi.nlm.nih.gov/10330344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A Trk nerve growth factor (NGF) receptor point mutation affecting interaction with phospholipase C-gamma 1 abolishes NGF-promoted peripherin induction but not neurite outgrowth

1 reference

https://pubmed.ncbi.nlm.nih.gov/10330344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Shc Binding to Nerve Growth Factor Receptor Is Mediated by the Phosphotyrosine Interaction Domain

1 reference

https://pubmed.ncbi.nlm.nih.gov/10330344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/10330344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital insensitivity to pain with anhidrosis: lack of eccrine sweat gland innervation confirmed

1 reference

https://pubmed.ncbi.nlm.nih.gov/10330344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10330344

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

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