Functional confirmation that the R1488* variant in SCN9A results in complete loss-of-function of Nav1.7 View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-07-23

AUTHORS

Wen He, Gareth T. Young, Baohong Zhang, Peter J. Cox, Lily Ting-Yin Cho, Sally John, Sara A. Paciga, Linda S. Wood, Nicolas Danziger, Serena Scollen, Ciara Vangjeli

ABSTRACT

BACKGROUND: Individuals with an extremely rare inherited condition, termed Congenital Insensitivity to Pain (CIP), do not feel pain in response to noxious stimuli. Variants in SCN9A, encoding the transmembrane voltage-gated sodium channel Nav1.7, have previously been reported in subjects with CIP accompanied by anosmia, which are typically transmitted in a recessive pattern. Functional characterisations of some of these SCN9A mutations show that they result in complete loss-of-function of Nav1.7. METHODS: In a consanguineous family we performed whole exome sequencing of three members who have a diagnosis of CIP and one unaffected family member. The functional effects of the segregating variant in SCN9A were determined using patch clamp electrophysiology in human embryonic kidney (HEK) 293 cells transfected with the variant. RESULTS: We found that each CIP subject was homozygous for a putatively nonsense variant, R1488*, in SCN9A. This variant was reported elsewhere in a subject with CIP, though the functional effect was not determined. Using electrophysiology, we confirm that this variant results in a complete loss-of-function of Nav1.7. CONCLUSIONS: We confirm through electrophysiological analysis that this R1488* variant in SCN9A results in complete loss-of-function of Nav1.7, which is consistent with reports on other variants in this gene in subjects with CIP. More... »

PAGES

124

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s12881-018-0643-4

DOI

http://dx.doi.org/10.1186/s12881-018-0643-4

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1105779313

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30037327


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical and Health Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1103", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Clinical Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cell Line", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Codon, Nonsense", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Electrophysiological Phenomena", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "HEK293 Cells", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "NAV1.7 Voltage-Gated Sodium Channel", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Pedigree", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Whole Exome Sequencing", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Worldwide Research & Development, Pfizer Inc, Eastern Point Road, Groton, CT 06340 USA", 
          "id": "http://www.grid.ac/institutes/grid.410513.2", 
          "name": [
            "Worldwide Research & Development, Pfizer Inc, Eastern Point Road, Groton, CT 06340 USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "He", 
        "givenName": "Wen", 
        "id": "sg:person.013163255103.08", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013163255103.08"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Pfizer Ltd, The Portway Building, Granta Park, Great Abington, Cambridge, CB21 6GS UK", 
          "id": "http://www.grid.ac/institutes/None", 
          "name": [
            "Pfizer Ltd, The Portway Building, Granta Park, Great Abington, Cambridge, CB21 6GS UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Young", 
        "givenName": "Gareth T.", 
        "id": "sg:person.01367142140.73", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01367142140.73"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Pfizer Inc, 300 Technology Square, Cambridge, MA 02139 USA", 
          "id": "http://www.grid.ac/institutes/None", 
          "name": [
            "Pfizer Inc, 300 Technology Square, Cambridge, MA 02139 USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Zhang", 
        "givenName": "Baohong", 
        "id": "sg:person.01273325033.96", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01273325033.96"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Pfizer Ltd, The Portway Building, Granta Park, Great Abington, Cambridge, CB21 6GS UK", 
          "id": "http://www.grid.ac/institutes/None", 
          "name": [
            "Pfizer Ltd, The Portway Building, Granta Park, Great Abington, Cambridge, CB21 6GS UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Cox", 
        "givenName": "Peter J.", 
        "id": "sg:person.013006755325.31", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013006755325.31"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Pfizer Ltd, The Portway Building, Granta Park, Great Abington, Cambridge, CB21 6GS UK", 
          "id": "http://www.grid.ac/institutes/None", 
          "name": [
            "Pfizer Ltd, The Portway Building, Granta Park, Great Abington, Cambridge, CB21 6GS UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Cho", 
        "givenName": "Lily Ting-Yin", 
        "id": "sg:person.0675512661.47", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0675512661.47"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Pfizer Inc, 300 Technology Square, Cambridge, MA 02139 USA", 
          "id": "http://www.grid.ac/institutes/None", 
          "name": [
            "Pfizer Inc, 300 Technology Square, Cambridge, MA 02139 USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "John", 
        "givenName": "Sally", 
        "id": "sg:person.01123603040.32", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01123603040.32"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Worldwide Research & Development, Pfizer Inc, Eastern Point Road, Groton, CT 06340 USA", 
          "id": "http://www.grid.ac/institutes/grid.410513.2", 
          "name": [
            "Worldwide Research & Development, Pfizer Inc, Eastern Point Road, Groton, CT 06340 USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Paciga", 
        "givenName": "Sara A.", 
        "id": "sg:person.01252172347.44", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01252172347.44"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Worldwide Research & Development, Pfizer Inc, Eastern Point Road, Groton, CT 06340 USA", 
          "id": "http://www.grid.ac/institutes/grid.410513.2", 
          "name": [
            "Worldwide Research & Development, Pfizer Inc, Eastern Point Road, Groton, CT 06340 USA"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Wood", 
        "givenName": "Linda S.", 
        "id": "sg:person.01006062311.71", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01006062311.71"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Pain Center, Groupe Hospitalier Piti\u00e9-Salp\u00eatri\u00e8re, Paris, France", 
          "id": "http://www.grid.ac/institutes/grid.411439.a", 
          "name": [
            "Pain Center, Groupe Hospitalier Piti\u00e9-Salp\u00eatri\u00e8re, Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Danziger", 
        "givenName": "Nicolas", 
        "id": "sg:person.01037132144.57", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01037132144.57"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Pfizer Ltd, The Portway Building, Granta Park, Great Abington, Cambridge, CB21 6GS UK", 
          "id": "http://www.grid.ac/institutes/None", 
          "name": [
            "Pfizer Ltd, The Portway Building, Granta Park, Great Abington, Cambridge, CB21 6GS UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Scollen", 
        "givenName": "Serena", 
        "id": "sg:person.0663045500.97", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0663045500.97"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Pfizer Ltd, The Portway Building, Granta Park, Great Abington, Cambridge, CB21 6GS UK", 
          "id": "http://www.grid.ac/institutes/None", 
          "name": [
            "Pfizer Ltd, The Portway Building, Granta Park, Great Abington, Cambridge, CB21 6GS UK"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Vangjeli", 
        "givenName": "Ciara", 
        "id": "sg:person.01153046442.05", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01153046442.05"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1038/nmeth0410-248", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007489634", 
          "https://doi.org/10.1038/nmeth0410-248"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature11632", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000661742", 
          "https://doi.org/10.1038/nature11632"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ncomms9967", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016315037", 
          "https://doi.org/10.1038/ncomms9967"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature05413", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035659631", 
          "https://doi.org/10.1038/nature05413"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nbt.1754", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019307928", 
          "https://doi.org/10.1038/nbt.1754"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nprot.2009.86", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015642657", 
          "https://doi.org/10.1038/nprot.2009.86"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.806", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010244476", 
          "https://doi.org/10.1038/ng.806"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2018-07-23", 
    "datePublishedReg": "2018-07-23", 
    "description": "BACKGROUND: Individuals with an extremely rare inherited condition, termed Congenital Insensitivity to Pain (CIP), do not feel pain in response to noxious stimuli. Variants in SCN9A, encoding the transmembrane voltage-gated sodium channel Nav1.7, have previously been reported in subjects with CIP accompanied by anosmia, which are typically transmitted in a recessive pattern. Functional characterisations of some of these SCN9A mutations show that they result in complete loss-of-function of Nav1.7.\nMETHODS: In a consanguineous family we performed whole exome sequencing of three members who have a diagnosis of CIP and one unaffected family member. The functional effects of the segregating variant in SCN9A were determined using patch clamp electrophysiology in human embryonic kidney (HEK) 293 cells transfected with the variant.\nRESULTS: We found that each CIP subject was homozygous for a putatively nonsense variant, R1488*, in SCN9A. This variant was reported elsewhere in a subject with CIP, though the functional effect was not determined. Using electrophysiology, we confirm that this variant results in a complete loss-of-function of Nav1.7.\nCONCLUSIONS: We confirm through electrophysiological analysis that this R1488* variant in SCN9A results in complete loss-of-function of Nav1.7, which is consistent with reports on other variants in this gene in subjects with CIP.", 
    "genre": "article", 
    "id": "sg:pub.10.1186/s12881-018-0643-4", 
    "inLanguage": "en", 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1024947", 
        "issn": [
          "1471-2350"
        ], 
        "name": "BMC Medical Genetics", 
        "publisher": "Springer Nature", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "19"
      }
    ], 
    "keywords": [
      "diagnosis of CIP", 
      "function of Nav1.7", 
      "functional effects", 
      "function of Na", 
      "patch-clamp electrophysiology", 
      "rare inherited condition", 
      "voltage-gated sodium channel Na", 
      "whole-exome sequencing", 
      "human embryonic kidney 293 cells", 
      "congenital insensitivity", 
      "embryonic kidney 293 cells", 
      "noxious stimuli", 
      "unaffected family members", 
      "sodium channel Na", 
      "complete loss", 
      "kidney 293 cells", 
      "clamp electrophysiology", 
      "inherited condition", 
      "recessive pattern", 
      "exome sequencing", 
      "electrophysiological analysis", 
      "nonsense variant", 
      "pain", 
      "consanguineous family", 
      "family members", 
      "subjects", 
      "electrophysiology", 
      "variant results", 
      "functional confirmation", 
      "anosmia", 
      "Nav1.7", 
      "variants", 
      "diagnosis", 
      "loss", 
      "functional characterisation", 
      "report", 
      "function", 
      "effect", 
      "cells", 
      "stimuli", 
      "confirmation", 
      "mutations", 
      "individuals", 
      "response", 
      "Na", 
      "members", 
      "sequencing", 
      "genes", 
      "CIP", 
      "results", 
      "insensitivity", 
      "family", 
      "patterns", 
      "sub", 
      "analysis", 
      "conditions", 
      "characterisation", 
      "transmembrane voltage-gated sodium channel Na", 
      "channel Na", 
      "CIP subject", 
      "R1488", 
      "SCN9A."
    ], 
    "name": "Functional confirmation that the R1488* variant in SCN9A results in complete loss-of-function of Nav1.7", 
    "pagination": "124", 
    "productId": [
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1105779313"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1186/s12881-018-0643-4"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "30037327"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1186/s12881-018-0643-4", 
      "https://app.dimensions.ai/details/publication/pub.1105779313"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2021-12-01T19:42", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-springernature-scigraph/baseset/20211201/entities/gbq_results/article/article_785.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://doi.org/10.1186/s12881-018-0643-4"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1186/s12881-018-0643-4'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/s12881-018-0643-4'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/s12881-018-0643-4'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/s12881-018-0643-4'


 

This table displays all metadata directly associated to this object as RDF triples.

273 TRIPLES      22 PREDICATES      106 URIs      91 LITERALS      18 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1186/s12881-018-0643-4 schema:about N3ace74db86374f04ac996c2c41a9776d
2 N418c7a5c96d94771bc0ac0d3f628ebd6
3 N44406ecafcab4d32a1090db45182ca6f
4 N46b146bd25de45b58fbe7856b07a7f5b
5 N4d72528232b445be85163d90fc9c8ff5
6 N6b31f1b543294be281d30b0efc1f1b40
7 N6f507afd7e1647d1965f6af64d8431c6
8 N80c167f79db54c939b1029183ddac5fc
9 Ndafe66f22c004e08800daf01e3773f36
10 Nf1cc446033ea4b9ca048eeb850bb563d
11 Nf7e161bd4c76452ba12703193f7dd076
12 anzsrc-for:11
13 anzsrc-for:1103
14 schema:author Nab7092759e804b02a4e6ae4e5b157f89
15 schema:citation sg:pub.10.1038/nature05413
16 sg:pub.10.1038/nature11632
17 sg:pub.10.1038/nbt.1754
18 sg:pub.10.1038/ncomms9967
19 sg:pub.10.1038/ng.806
20 sg:pub.10.1038/nmeth0410-248
21 sg:pub.10.1038/nprot.2009.86
22 schema:datePublished 2018-07-23
23 schema:datePublishedReg 2018-07-23
24 schema:description BACKGROUND: Individuals with an extremely rare inherited condition, termed Congenital Insensitivity to Pain (CIP), do not feel pain in response to noxious stimuli. Variants in SCN9A, encoding the transmembrane voltage-gated sodium channel Na<sub>v</sub>1.7, have previously been reported in subjects with CIP accompanied by anosmia, which are typically transmitted in a recessive pattern. Functional characterisations of some of these SCN9A mutations show that they result in complete loss-of-function of Na<sub>v</sub>1.7. METHODS: In a consanguineous family we performed whole exome sequencing of three members who have a diagnosis of CIP and one unaffected family member. The functional effects of the segregating variant in SCN9A were determined using patch clamp electrophysiology in human embryonic kidney (HEK) 293 cells transfected with the variant. RESULTS: We found that each CIP subject was homozygous for a putatively nonsense variant, R1488*, in SCN9A. This variant was reported elsewhere in a subject with CIP, though the functional effect was not determined. Using electrophysiology, we confirm that this variant results in a complete loss-of-function of Na<sub>v</sub>1.7. CONCLUSIONS: We confirm through electrophysiological analysis that this R1488* variant in SCN9A results in complete loss-of-function of Na<sub>v</sub>1.7, which is consistent with reports on other variants in this gene in subjects with CIP.
25 schema:genre article
26 schema:inLanguage en
27 schema:isAccessibleForFree true
28 schema:isPartOf N611c932228254192adac6064928666ee
29 Nfbf76d31147c4e92ac5beaf64e96091f
30 sg:journal.1024947
31 schema:keywords CIP
32 CIP subject
33 Na
34 Nav1.7
35 R1488
36 SCN9A.
37 analysis
38 anosmia
39 cells
40 channel Na
41 characterisation
42 clamp electrophysiology
43 complete loss
44 conditions
45 confirmation
46 congenital insensitivity
47 consanguineous family
48 diagnosis
49 diagnosis of CIP
50 effect
51 electrophysiological analysis
52 electrophysiology
53 embryonic kidney 293 cells
54 exome sequencing
55 family
56 family members
57 function
58 function of Na
59 function of Nav1.7
60 functional characterisation
61 functional confirmation
62 functional effects
63 genes
64 human embryonic kidney 293 cells
65 individuals
66 inherited condition
67 insensitivity
68 kidney 293 cells
69 loss
70 members
71 mutations
72 nonsense variant
73 noxious stimuli
74 pain
75 patch-clamp electrophysiology
76 patterns
77 rare inherited condition
78 recessive pattern
79 report
80 response
81 results
82 sequencing
83 sodium channel Na
84 stimuli
85 sub
86 subjects
87 transmembrane voltage-gated sodium channel Na
88 unaffected family members
89 variant results
90 variants
91 voltage-gated sodium channel Na
92 whole-exome sequencing
93 schema:name Functional confirmation that the R1488* variant in SCN9A results in complete loss-of-function of Nav1.7
94 schema:pagination 124
95 schema:productId N2489cfb6def14a02bc74005918c58a55
96 N99eccd699d664c59aa809055a4a39c25
97 N9e27d1598fb74a9ca69a5c9cce1a24e0
98 schema:sameAs https://app.dimensions.ai/details/publication/pub.1105779313
99 https://doi.org/10.1186/s12881-018-0643-4
100 schema:sdDatePublished 2021-12-01T19:42
101 schema:sdLicense https://scigraph.springernature.com/explorer/license/
102 schema:sdPublisher N548093a415394cc09a85db2c87755104
103 schema:url https://doi.org/10.1186/s12881-018-0643-4
104 sgo:license sg:explorer/license/
105 sgo:sdDataset articles
106 rdf:type schema:ScholarlyArticle
107 N18b4668ff2334defab8542f42023e63c rdf:first sg:person.013006755325.31
108 rdf:rest N77ce7c43a5aa4680918893f27c9166dc
109 N2489cfb6def14a02bc74005918c58a55 schema:name doi
110 schema:value 10.1186/s12881-018-0643-4
111 rdf:type schema:PropertyValue
112 N3ace74db86374f04ac996c2c41a9776d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
113 schema:name NAV1.7 Voltage-Gated Sodium Channel
114 rdf:type schema:DefinedTerm
115 N418c7a5c96d94771bc0ac0d3f628ebd6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
116 schema:name Whole Exome Sequencing
117 rdf:type schema:DefinedTerm
118 N44406ecafcab4d32a1090db45182ca6f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
119 schema:name Mutation
120 rdf:type schema:DefinedTerm
121 N46b146bd25de45b58fbe7856b07a7f5b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
122 schema:name Male
123 rdf:type schema:DefinedTerm
124 N4d72528232b445be85163d90fc9c8ff5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
125 schema:name Electrophysiological Phenomena
126 rdf:type schema:DefinedTerm
127 N548093a415394cc09a85db2c87755104 schema:name Springer Nature - SN SciGraph project
128 rdf:type schema:Organization
129 N611c932228254192adac6064928666ee schema:volumeNumber 19
130 rdf:type schema:PublicationVolume
131 N6a5d01be40b74ffcb59ee2293e902ca4 rdf:first sg:person.01037132144.57
132 rdf:rest N85b5108270904faf96588339409bd98e
133 N6b31f1b543294be281d30b0efc1f1b40 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
134 schema:name Pedigree
135 rdf:type schema:DefinedTerm
136 N6f507afd7e1647d1965f6af64d8431c6 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
137 schema:name Codon, Nonsense
138 rdf:type schema:DefinedTerm
139 N77ce7c43a5aa4680918893f27c9166dc rdf:first sg:person.0675512661.47
140 rdf:rest N91083c8167874509935efca25602db33
141 N80c167f79db54c939b1029183ddac5fc schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
142 schema:name HEK293 Cells
143 rdf:type schema:DefinedTerm
144 N85b5108270904faf96588339409bd98e rdf:first sg:person.0663045500.97
145 rdf:rest Nfe6057def7d1404ca1912167a09766fb
146 N91083c8167874509935efca25602db33 rdf:first sg:person.01123603040.32
147 rdf:rest Nfedcca30827c4356a976620429c06e73
148 N93f1337ec1084bdbb08bedd296e87ee2 rdf:first sg:person.01273325033.96
149 rdf:rest N18b4668ff2334defab8542f42023e63c
150 N99eccd699d664c59aa809055a4a39c25 schema:name pubmed_id
151 schema:value 30037327
152 rdf:type schema:PropertyValue
153 N9e27d1598fb74a9ca69a5c9cce1a24e0 schema:name dimensions_id
154 schema:value pub.1105779313
155 rdf:type schema:PropertyValue
156 Nab7092759e804b02a4e6ae4e5b157f89 rdf:first sg:person.013163255103.08
157 rdf:rest Neba598c220314ae88336f1990682c5f6
158 Nd678675a3bb74db28f6c9b94feca95fc rdf:first sg:person.01006062311.71
159 rdf:rest N6a5d01be40b74ffcb59ee2293e902ca4
160 Ndafe66f22c004e08800daf01e3773f36 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
161 schema:name Female
162 rdf:type schema:DefinedTerm
163 Neba598c220314ae88336f1990682c5f6 rdf:first sg:person.01367142140.73
164 rdf:rest N93f1337ec1084bdbb08bedd296e87ee2
165 Nf1cc446033ea4b9ca048eeb850bb563d schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
166 schema:name Humans
167 rdf:type schema:DefinedTerm
168 Nf7e161bd4c76452ba12703193f7dd076 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
169 schema:name Cell Line
170 rdf:type schema:DefinedTerm
171 Nfbf76d31147c4e92ac5beaf64e96091f schema:issueNumber 1
172 rdf:type schema:PublicationIssue
173 Nfe6057def7d1404ca1912167a09766fb rdf:first sg:person.01153046442.05
174 rdf:rest rdf:nil
175 Nfedcca30827c4356a976620429c06e73 rdf:first sg:person.01252172347.44
176 rdf:rest Nd678675a3bb74db28f6c9b94feca95fc
177 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
178 schema:name Medical and Health Sciences
179 rdf:type schema:DefinedTerm
180 anzsrc-for:1103 schema:inDefinedTermSet anzsrc-for:
181 schema:name Clinical Sciences
182 rdf:type schema:DefinedTerm
183 sg:journal.1024947 schema:issn 1471-2350
184 schema:name BMC Medical Genetics
185 schema:publisher Springer Nature
186 rdf:type schema:Periodical
187 sg:person.01006062311.71 schema:affiliation grid-institutes:grid.410513.2
188 schema:familyName Wood
189 schema:givenName Linda S.
190 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01006062311.71
191 rdf:type schema:Person
192 sg:person.01037132144.57 schema:affiliation grid-institutes:grid.411439.a
193 schema:familyName Danziger
194 schema:givenName Nicolas
195 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01037132144.57
196 rdf:type schema:Person
197 sg:person.01123603040.32 schema:affiliation grid-institutes:None
198 schema:familyName John
199 schema:givenName Sally
200 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01123603040.32
201 rdf:type schema:Person
202 sg:person.01153046442.05 schema:affiliation grid-institutes:None
203 schema:familyName Vangjeli
204 schema:givenName Ciara
205 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01153046442.05
206 rdf:type schema:Person
207 sg:person.01252172347.44 schema:affiliation grid-institutes:grid.410513.2
208 schema:familyName Paciga
209 schema:givenName Sara A.
210 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01252172347.44
211 rdf:type schema:Person
212 sg:person.01273325033.96 schema:affiliation grid-institutes:None
213 schema:familyName Zhang
214 schema:givenName Baohong
215 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01273325033.96
216 rdf:type schema:Person
217 sg:person.013006755325.31 schema:affiliation grid-institutes:None
218 schema:familyName Cox
219 schema:givenName Peter J.
220 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013006755325.31
221 rdf:type schema:Person
222 sg:person.013163255103.08 schema:affiliation grid-institutes:grid.410513.2
223 schema:familyName He
224 schema:givenName Wen
225 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013163255103.08
226 rdf:type schema:Person
227 sg:person.01367142140.73 schema:affiliation grid-institutes:None
228 schema:familyName Young
229 schema:givenName Gareth T.
230 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01367142140.73
231 rdf:type schema:Person
232 sg:person.0663045500.97 schema:affiliation grid-institutes:None
233 schema:familyName Scollen
234 schema:givenName Serena
235 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0663045500.97
236 rdf:type schema:Person
237 sg:person.0675512661.47 schema:affiliation grid-institutes:None
238 schema:familyName Cho
239 schema:givenName Lily Ting-Yin
240 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0675512661.47
241 rdf:type schema:Person
242 sg:pub.10.1038/nature05413 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035659631
243 https://doi.org/10.1038/nature05413
244 rdf:type schema:CreativeWork
245 sg:pub.10.1038/nature11632 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000661742
246 https://doi.org/10.1038/nature11632
247 rdf:type schema:CreativeWork
248 sg:pub.10.1038/nbt.1754 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019307928
249 https://doi.org/10.1038/nbt.1754
250 rdf:type schema:CreativeWork
251 sg:pub.10.1038/ncomms9967 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016315037
252 https://doi.org/10.1038/ncomms9967
253 rdf:type schema:CreativeWork
254 sg:pub.10.1038/ng.806 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010244476
255 https://doi.org/10.1038/ng.806
256 rdf:type schema:CreativeWork
257 sg:pub.10.1038/nmeth0410-248 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007489634
258 https://doi.org/10.1038/nmeth0410-248
259 rdf:type schema:CreativeWork
260 sg:pub.10.1038/nprot.2009.86 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015642657
261 https://doi.org/10.1038/nprot.2009.86
262 rdf:type schema:CreativeWork
263 grid-institutes:None schema:alternateName Pfizer Inc, 300 Technology Square, Cambridge, MA 02139 USA
264 Pfizer Ltd, The Portway Building, Granta Park, Great Abington, Cambridge, CB21 6GS UK
265 schema:name Pfizer Inc, 300 Technology Square, Cambridge, MA 02139 USA
266 Pfizer Ltd, The Portway Building, Granta Park, Great Abington, Cambridge, CB21 6GS UK
267 rdf:type schema:Organization
268 grid-institutes:grid.410513.2 schema:alternateName Worldwide Research & Development, Pfizer Inc, Eastern Point Road, Groton, CT 06340 USA
269 schema:name Worldwide Research & Development, Pfizer Inc, Eastern Point Road, Groton, CT 06340 USA
270 rdf:type schema:Organization
271 grid-institutes:grid.411439.a schema:alternateName Pain Center, Groupe Hospitalier Pitié-Salpêtrière, Paris, France
272 schema:name Pain Center, Groupe Hospitalier Pitié-Salpêtrière, Paris, France
273 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...