Common mutations in the familial Mediterranean fever gene associate with rapid progression to disability in non-Ashkenazi Jewish multiple sclerosis patients View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2003-04

AUTHORS

Y Shinar, A Livneh, Y Villa, A Pinhasov, I Zeitoun, A Kogan, A Achiron

ABSTRACT

Ancient founder mutations in the Mediterranean fever gene, MEFV, are associated with familial Mediterranean fever, a recessive, episodic, inflammatory disease. Since these mutations are reported to express with above normal levels of acute phase reactants in healthy heterozygotes we postulated that the heterozygous phenotype could aggravate the clinical expression of ongoing autoimmune diseases. This study evaluated progression to disability in relapsing-remitting multiple sclerosis (RR-MS) patients of non-Ashkenazi and Ashkenazi origin carrying an MEFV mutation, particularly the detrimental M694V, using the expanded disability status scale (EDSS). In the non-Ashkenazi patients group (n=48), carriers (n=17) presented with a two-fold higher fraction which reached EDSS=3.0 and 6.0 compared to noncarriers (n=31) despite a comparable mean of MS duration. The median time to reach EDSS=3.0 was 2 years in the carriers vs 10 years in noncarriers (P=0.007); The median time to reach EDSS=6.0 was 6 years vs 23 years, respectively (P=0.003). M694V heterozygous patients reached both EDSS milestones earlier than other patients. Progression to disability was not enhanced in Ashkenazi RR-MS carriers (n=12, noncarriers n=59). In conclusion, non-Asheknazi MS patients carrying one mutated MEFV gene, particularly M694V, expressed rapid progression to disability. The expressed mutation may increase inflammatory damage inflicted by autoimmune responses. More... »

PAGES

6363967

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/sj.gene.6363967

DOI

http://dx.doi.org/10.1038/sj.gene.6363967

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1035410608

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/12700594


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/2008/1109", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Neurosciences", 
        "type": "DefinedTerm"
      }, 
      {
        "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"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Adult", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Disease Progression", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Familial Mediterranean Fever", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Jews", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Multiple Sclerosis", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Time Factors", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Sheba Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.413795.d", 
          "name": [
            "Heller Institute of Medical Research, Sheba Medical Center, Tel Hashomer, Israel"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Shinar", 
        "givenName": "Y", 
        "id": "sg:person.0612072755.49", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0612072755.49"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Sheba Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.413795.d", 
          "name": [
            "Heller Institute of Medical Research, Sheba Medical Center, Tel Hashomer, Israel"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Livneh", 
        "givenName": "A", 
        "id": "sg:person.01013772430.48", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01013772430.48"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Tel Aviv University", 
          "id": "https://www.grid.ac/institutes/grid.12136.37", 
          "name": [
            "Department of Statistics, Tel Aviv University, Israel"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Villa", 
        "givenName": "Y", 
        "id": "sg:person.0657347070.33", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0657347070.33"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Sheba Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.413795.d", 
          "name": [
            "Heller Institute of Medical Research, Sheba Medical Center, Tel Hashomer, Israel"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pinhasov", 
        "givenName": "A", 
        "id": "sg:person.0766223703.11", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0766223703.11"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Sheba Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.413795.d", 
          "name": [
            "The Multiple Sclerosis Center, Sheba Medical Center, Tel Hashomer, Israel"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Zeitoun", 
        "givenName": "I", 
        "id": "sg:person.01336074170.32", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01336074170.32"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Sheba Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.413795.d", 
          "name": [
            "Heller Institute of Medical Research, Sheba Medical Center, Tel Hashomer, Israel"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kogan", 
        "givenName": "A", 
        "id": "sg:person.07763063022.41", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07763063022.41"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Sheba Medical Center", 
          "id": "https://www.grid.ac/institutes/grid.413795.d", 
          "name": [
            "The Multiple Sclerosis Center, Sheba Medical Center, Tel Hashomer, Israel"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Achiron", 
        "givenName": "A", 
        "id": "sg:person.01166404312.41", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01166404312.41"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1007/s004150050134", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1002362981", 
          "https://doi.org/10.1007/s004150050134"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejm200009283431307", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003796615"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.33.11.1444", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005727777"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.3109/13506129908993281", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011444373"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/qjmed/94.10.527", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016047981"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5200658", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016468547", 
          "https://doi.org/10.1038/sj.ejhg.5200658"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5200658", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016468547", 
          "https://doi.org/10.1038/sj.ejhg.5200658"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1385/jmn:11:3:265", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022548831", 
          "https://doi.org/10.1385/jmn:11:3:265"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0140-6736(99)02134-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1022986424"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0140-6736(99)00990-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025311451"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5200170", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025913508", 
          "https://doi.org/10.1038/sj.ejhg.5200170"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5200170", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025913508", 
          "https://doi.org/10.1038/sj.ejhg.5200170"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ana.410130302", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030686038"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s004150170205", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1032217082", 
          "https://doi.org/10.1007/s004150170205"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1084/jem.180.1.203", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034904087"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1438", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035338172"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0165-5728(99)00166-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035612780"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000050789", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035825211"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.gene.6363690", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037183495", 
          "https://doi.org/10.1038/sj.gene.6363690"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.gene.6363690", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037183495", 
          "https://doi.org/10.1038/sj.gene.6363690"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1042/bj3440007", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039889221"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1042/bj3440007", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039889221"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5200608", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040072483", 
          "https://doi.org/10.1038/sj.ejhg.5200608"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5200608", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040072483", 
          "https://doi.org/10.1038/sj.ejhg.5200608"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5200672", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045085270", 
          "https://doi.org/10.1038/sj.ejhg.5200672"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5200672", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1045085270", 
          "https://doi.org/10.1038/sj.ejhg.5200672"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0092-8674(00)80539-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047283244"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1056/nejm199801293380502", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1047871023"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/ard.60.8.777", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1048678591"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1001/archneur.56.5.555", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1050019959"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5200446", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052810936", 
          "https://doi.org/10.1038/sj.ejhg.5200446"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5200446", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052810936", 
          "https://doi.org/10.1038/sj.ejhg.5200446"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/302327", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058609905"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/302459", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058610033"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.52.9.1771", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064377505"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.52.9.1771", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064377505"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.52.9.1771", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064377505"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.56.3.312", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064379428"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.56.3.312", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064379428"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1212/wnl.56.3.312", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1064379428"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1074674983", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1082444074", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1083046504", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2003-04", 
    "datePublishedReg": "2003-04-01", 
    "description": "Ancient founder mutations in the Mediterranean fever gene, MEFV, are associated with familial Mediterranean fever, a recessive, episodic, inflammatory disease. Since these mutations are reported to express with above normal levels of acute phase reactants in healthy heterozygotes we postulated that the heterozygous phenotype could aggravate the clinical expression of ongoing autoimmune diseases. This study evaluated progression to disability in relapsing-remitting multiple sclerosis (RR-MS) patients of non-Ashkenazi and Ashkenazi origin carrying an MEFV mutation, particularly the detrimental M694V, using the expanded disability status scale (EDSS). In the non-Ashkenazi patients group (n=48), carriers (n=17) presented with a two-fold higher fraction which reached EDSS=3.0 and 6.0 compared to noncarriers (n=31) despite a comparable mean of MS duration. The median time to reach EDSS=3.0 was 2 years in the carriers vs 10 years in noncarriers (P=0.007); The median time to reach EDSS=6.0 was 6 years vs 23 years, respectively (P=0.003). M694V heterozygous patients reached both EDSS milestones earlier than other patients. Progression to disability was not enhanced in Ashkenazi RR-MS carriers (n=12, noncarriers n=59). In conclusion, non-Asheknazi MS patients carrying one mutated MEFV gene, particularly M694V, expressed rapid progression to disability. The expressed mutation may increase inflammatory damage inflicted by autoimmune responses.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1038/sj.gene.6363967", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1022914", 
        "issn": [
          "1466-4879", 
          "1476-5470"
        ], 
        "name": "Genes & Immunity", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "3", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "4"
      }
    ], 
    "name": "Common mutations in the familial Mediterranean fever gene associate with rapid progression to disability in non-Ashkenazi Jewish multiple sclerosis patients", 
    "pagination": "6363967", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "a8ae0fc86318ecedecf56e1da7b79cbb4f24999bb7f7b59a9a0bfc97e123d12f"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "12700594"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "100953417"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/sj.gene.6363967"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1035410608"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/sj.gene.6363967", 
      "https://app.dimensions.ai/details/publication/pub.1035410608"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T11:51", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000359_0000000359/records_29183_00000001.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://www.nature.com/articles/6363967"
  }
]
 

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.10.1038/sj.gene.6363967'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/sj.gene.6363967'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/sj.gene.6363967'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/sj.gene.6363967'


 

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

249 TRIPLES      21 PREDICATES      69 URIs      29 LITERALS      17 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/sj.gene.6363967 schema:about N468081d49c184c7cb7251e9fabdc3022
2 N553ac284a07d4536b2acb6dfaea913c0
3 N583aa438bbc847b7a96be6e23e773de7
4 N5cf3763791c5448091f1fe90320a435b
5 N6ba8d9822ce946fb9986d15d15c8934b
6 N7c11d6bcc003414496cb2237ca795c7f
7 N99de0e11db1542d987d4810f79cad5b3
8 Nbfa50cf156d248e9aa448b188e550cef
9 anzsrc-for:11
10 anzsrc-for:1109
11 schema:author N705e35760d6744eb9bcd9abcd29714a8
12 schema:citation sg:pub.10.1007/s004150050134
13 sg:pub.10.1007/s004150170205
14 sg:pub.10.1038/sj.ejhg.5200170
15 sg:pub.10.1038/sj.ejhg.5200446
16 sg:pub.10.1038/sj.ejhg.5200608
17 sg:pub.10.1038/sj.ejhg.5200658
18 sg:pub.10.1038/sj.ejhg.5200672
19 sg:pub.10.1038/sj.gene.6363690
20 sg:pub.10.1385/jmn:11:3:265
21 https://app.dimensions.ai/details/publication/pub.1074674983
22 https://app.dimensions.ai/details/publication/pub.1082444074
23 https://app.dimensions.ai/details/publication/pub.1083046504
24 https://doi.org/10.1001/archneur.56.5.555
25 https://doi.org/10.1002/ajmg.1438
26 https://doi.org/10.1002/ana.410130302
27 https://doi.org/10.1016/s0092-8674(00)80539-5
28 https://doi.org/10.1016/s0140-6736(99)00990-3
29 https://doi.org/10.1016/s0140-6736(99)02134-0
30 https://doi.org/10.1016/s0165-5728(99)00166-6
31 https://doi.org/10.1042/bj3440007
32 https://doi.org/10.1056/nejm199801293380502
33 https://doi.org/10.1056/nejm200009283431307
34 https://doi.org/10.1084/jem.180.1.203
35 https://doi.org/10.1086/302327
36 https://doi.org/10.1086/302459
37 https://doi.org/10.1093/qjmed/94.10.527
38 https://doi.org/10.1136/ard.60.8.777
39 https://doi.org/10.1159/000050789
40 https://doi.org/10.1212/wnl.33.11.1444
41 https://doi.org/10.1212/wnl.52.9.1771
42 https://doi.org/10.1212/wnl.56.3.312
43 https://doi.org/10.3109/13506129908993281
44 schema:datePublished 2003-04
45 schema:datePublishedReg 2003-04-01
46 schema:description Ancient founder mutations in the Mediterranean fever gene, MEFV, are associated with familial Mediterranean fever, a recessive, episodic, inflammatory disease. Since these mutations are reported to express with above normal levels of acute phase reactants in healthy heterozygotes we postulated that the heterozygous phenotype could aggravate the clinical expression of ongoing autoimmune diseases. This study evaluated progression to disability in relapsing-remitting multiple sclerosis (RR-MS) patients of non-Ashkenazi and Ashkenazi origin carrying an MEFV mutation, particularly the detrimental M694V, using the expanded disability status scale (EDSS). In the non-Ashkenazi patients group (n=48), carriers (n=17) presented with a two-fold higher fraction which reached EDSS=3.0 and 6.0 compared to noncarriers (n=31) despite a comparable mean of MS duration. The median time to reach EDSS=3.0 was 2 years in the carriers vs 10 years in noncarriers (P=0.007); The median time to reach EDSS=6.0 was 6 years vs 23 years, respectively (P=0.003). M694V heterozygous patients reached both EDSS milestones earlier than other patients. Progression to disability was not enhanced in Ashkenazi RR-MS carriers (n=12, noncarriers n=59). In conclusion, non-Asheknazi MS patients carrying one mutated MEFV gene, particularly M694V, expressed rapid progression to disability. The expressed mutation may increase inflammatory damage inflicted by autoimmune responses.
47 schema:genre research_article
48 schema:inLanguage en
49 schema:isAccessibleForFree true
50 schema:isPartOf N312d3c5ed2504f46ba5c04baddc4ad6c
51 N5f707f3d8cbc44bdbb0042fa988cacaf
52 sg:journal.1022914
53 schema:name Common mutations in the familial Mediterranean fever gene associate with rapid progression to disability in non-Ashkenazi Jewish multiple sclerosis patients
54 schema:pagination 6363967
55 schema:productId N07d1f06ca1b34c74b91c53b337195f4f
56 N0d945347c6954257a766c4e90049045f
57 N114d37d5a2a0462ba00b3fc535337170
58 N69b06a7622b44dd09b02fd5aea46bcfc
59 N8774b4e7c6044ae0930e3c9993d79ae7
60 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035410608
61 https://doi.org/10.1038/sj.gene.6363967
62 schema:sdDatePublished 2019-04-11T11:51
63 schema:sdLicense https://scigraph.springernature.com/explorer/license/
64 schema:sdPublisher N851607b8a92d4baf9d0a1f53e71e0771
65 schema:url http://www.nature.com/articles/6363967
66 sgo:license sg:explorer/license/
67 sgo:sdDataset articles
68 rdf:type schema:ScholarlyArticle
69 N07d1f06ca1b34c74b91c53b337195f4f schema:name pubmed_id
70 schema:value 12700594
71 rdf:type schema:PropertyValue
72 N0ae933d2579c4585b2cec9a3c3c165a3 rdf:first sg:person.01013772430.48
73 rdf:rest Nd193a36dfaaf4f4bafb1a293e2bf76e5
74 N0d945347c6954257a766c4e90049045f schema:name readcube_id
75 schema:value a8ae0fc86318ecedecf56e1da7b79cbb4f24999bb7f7b59a9a0bfc97e123d12f
76 rdf:type schema:PropertyValue
77 N114d37d5a2a0462ba00b3fc535337170 schema:name doi
78 schema:value 10.1038/sj.gene.6363967
79 rdf:type schema:PropertyValue
80 N176e520666854c9293d65927bea37929 rdf:first sg:person.01336074170.32
81 rdf:rest Neb8f2f9675bb4f67af255779b7213709
82 N312d3c5ed2504f46ba5c04baddc4ad6c schema:volumeNumber 4
83 rdf:type schema:PublicationVolume
84 N37906f4161324f9ca39a194488800871 rdf:first sg:person.01166404312.41
85 rdf:rest rdf:nil
86 N468081d49c184c7cb7251e9fabdc3022 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
87 schema:name Adult
88 rdf:type schema:DefinedTerm
89 N553ac284a07d4536b2acb6dfaea913c0 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
90 schema:name Multiple Sclerosis
91 rdf:type schema:DefinedTerm
92 N583aa438bbc847b7a96be6e23e773de7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
93 schema:name Jews
94 rdf:type schema:DefinedTerm
95 N5cf3763791c5448091f1fe90320a435b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
96 schema:name Humans
97 rdf:type schema:DefinedTerm
98 N5f707f3d8cbc44bdbb0042fa988cacaf schema:issueNumber 3
99 rdf:type schema:PublicationIssue
100 N69b06a7622b44dd09b02fd5aea46bcfc schema:name dimensions_id
101 schema:value pub.1035410608
102 rdf:type schema:PropertyValue
103 N6ba8d9822ce946fb9986d15d15c8934b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
104 schema:name Familial Mediterranean Fever
105 rdf:type schema:DefinedTerm
106 N705e35760d6744eb9bcd9abcd29714a8 rdf:first sg:person.0612072755.49
107 rdf:rest N0ae933d2579c4585b2cec9a3c3c165a3
108 N7c11d6bcc003414496cb2237ca795c7f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
109 schema:name Time Factors
110 rdf:type schema:DefinedTerm
111 N851607b8a92d4baf9d0a1f53e71e0771 schema:name Springer Nature - SN SciGraph project
112 rdf:type schema:Organization
113 N8774b4e7c6044ae0930e3c9993d79ae7 schema:name nlm_unique_id
114 schema:value 100953417
115 rdf:type schema:PropertyValue
116 N99de0e11db1542d987d4810f79cad5b3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
117 schema:name Disease Progression
118 rdf:type schema:DefinedTerm
119 Nbfa50cf156d248e9aa448b188e550cef schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
120 schema:name Mutation
121 rdf:type schema:DefinedTerm
122 Nd193a36dfaaf4f4bafb1a293e2bf76e5 rdf:first sg:person.0657347070.33
123 rdf:rest Nd51d12f9871e41a181902df14dd42d70
124 Nd51d12f9871e41a181902df14dd42d70 rdf:first sg:person.0766223703.11
125 rdf:rest N176e520666854c9293d65927bea37929
126 Neb8f2f9675bb4f67af255779b7213709 rdf:first sg:person.07763063022.41
127 rdf:rest N37906f4161324f9ca39a194488800871
128 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
129 schema:name Medical and Health Sciences
130 rdf:type schema:DefinedTerm
131 anzsrc-for:1109 schema:inDefinedTermSet anzsrc-for:
132 schema:name Neurosciences
133 rdf:type schema:DefinedTerm
134 sg:journal.1022914 schema:issn 1466-4879
135 1476-5470
136 schema:name Genes & Immunity
137 rdf:type schema:Periodical
138 sg:person.01013772430.48 schema:affiliation https://www.grid.ac/institutes/grid.413795.d
139 schema:familyName Livneh
140 schema:givenName A
141 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01013772430.48
142 rdf:type schema:Person
143 sg:person.01166404312.41 schema:affiliation https://www.grid.ac/institutes/grid.413795.d
144 schema:familyName Achiron
145 schema:givenName A
146 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01166404312.41
147 rdf:type schema:Person
148 sg:person.01336074170.32 schema:affiliation https://www.grid.ac/institutes/grid.413795.d
149 schema:familyName Zeitoun
150 schema:givenName I
151 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01336074170.32
152 rdf:type schema:Person
153 sg:person.0612072755.49 schema:affiliation https://www.grid.ac/institutes/grid.413795.d
154 schema:familyName Shinar
155 schema:givenName Y
156 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0612072755.49
157 rdf:type schema:Person
158 sg:person.0657347070.33 schema:affiliation https://www.grid.ac/institutes/grid.12136.37
159 schema:familyName Villa
160 schema:givenName Y
161 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0657347070.33
162 rdf:type schema:Person
163 sg:person.0766223703.11 schema:affiliation https://www.grid.ac/institutes/grid.413795.d
164 schema:familyName Pinhasov
165 schema:givenName A
166 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0766223703.11
167 rdf:type schema:Person
168 sg:person.07763063022.41 schema:affiliation https://www.grid.ac/institutes/grid.413795.d
169 schema:familyName Kogan
170 schema:givenName A
171 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07763063022.41
172 rdf:type schema:Person
173 sg:pub.10.1007/s004150050134 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002362981
174 https://doi.org/10.1007/s004150050134
175 rdf:type schema:CreativeWork
176 sg:pub.10.1007/s004150170205 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032217082
177 https://doi.org/10.1007/s004150170205
178 rdf:type schema:CreativeWork
179 sg:pub.10.1038/sj.ejhg.5200170 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025913508
180 https://doi.org/10.1038/sj.ejhg.5200170
181 rdf:type schema:CreativeWork
182 sg:pub.10.1038/sj.ejhg.5200446 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052810936
183 https://doi.org/10.1038/sj.ejhg.5200446
184 rdf:type schema:CreativeWork
185 sg:pub.10.1038/sj.ejhg.5200608 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040072483
186 https://doi.org/10.1038/sj.ejhg.5200608
187 rdf:type schema:CreativeWork
188 sg:pub.10.1038/sj.ejhg.5200658 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016468547
189 https://doi.org/10.1038/sj.ejhg.5200658
190 rdf:type schema:CreativeWork
191 sg:pub.10.1038/sj.ejhg.5200672 schema:sameAs https://app.dimensions.ai/details/publication/pub.1045085270
192 https://doi.org/10.1038/sj.ejhg.5200672
193 rdf:type schema:CreativeWork
194 sg:pub.10.1038/sj.gene.6363690 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037183495
195 https://doi.org/10.1038/sj.gene.6363690
196 rdf:type schema:CreativeWork
197 sg:pub.10.1385/jmn:11:3:265 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022548831
198 https://doi.org/10.1385/jmn:11:3:265
199 rdf:type schema:CreativeWork
200 https://app.dimensions.ai/details/publication/pub.1074674983 schema:CreativeWork
201 https://app.dimensions.ai/details/publication/pub.1082444074 schema:CreativeWork
202 https://app.dimensions.ai/details/publication/pub.1083046504 schema:CreativeWork
203 https://doi.org/10.1001/archneur.56.5.555 schema:sameAs https://app.dimensions.ai/details/publication/pub.1050019959
204 rdf:type schema:CreativeWork
205 https://doi.org/10.1002/ajmg.1438 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035338172
206 rdf:type schema:CreativeWork
207 https://doi.org/10.1002/ana.410130302 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030686038
208 rdf:type schema:CreativeWork
209 https://doi.org/10.1016/s0092-8674(00)80539-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047283244
210 rdf:type schema:CreativeWork
211 https://doi.org/10.1016/s0140-6736(99)00990-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025311451
212 rdf:type schema:CreativeWork
213 https://doi.org/10.1016/s0140-6736(99)02134-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1022986424
214 rdf:type schema:CreativeWork
215 https://doi.org/10.1016/s0165-5728(99)00166-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035612780
216 rdf:type schema:CreativeWork
217 https://doi.org/10.1042/bj3440007 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039889221
218 rdf:type schema:CreativeWork
219 https://doi.org/10.1056/nejm199801293380502 schema:sameAs https://app.dimensions.ai/details/publication/pub.1047871023
220 rdf:type schema:CreativeWork
221 https://doi.org/10.1056/nejm200009283431307 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003796615
222 rdf:type schema:CreativeWork
223 https://doi.org/10.1084/jem.180.1.203 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034904087
224 rdf:type schema:CreativeWork
225 https://doi.org/10.1086/302327 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058609905
226 rdf:type schema:CreativeWork
227 https://doi.org/10.1086/302459 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058610033
228 rdf:type schema:CreativeWork
229 https://doi.org/10.1093/qjmed/94.10.527 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016047981
230 rdf:type schema:CreativeWork
231 https://doi.org/10.1136/ard.60.8.777 schema:sameAs https://app.dimensions.ai/details/publication/pub.1048678591
232 rdf:type schema:CreativeWork
233 https://doi.org/10.1159/000050789 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035825211
234 rdf:type schema:CreativeWork
235 https://doi.org/10.1212/wnl.33.11.1444 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005727777
236 rdf:type schema:CreativeWork
237 https://doi.org/10.1212/wnl.52.9.1771 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064377505
238 rdf:type schema:CreativeWork
239 https://doi.org/10.1212/wnl.56.3.312 schema:sameAs https://app.dimensions.ai/details/publication/pub.1064379428
240 rdf:type schema:CreativeWork
241 https://doi.org/10.3109/13506129908993281 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011444373
242 rdf:type schema:CreativeWork
243 https://www.grid.ac/institutes/grid.12136.37 schema:alternateName Tel Aviv University
244 schema:name Department of Statistics, Tel Aviv University, Israel
245 rdf:type schema:Organization
246 https://www.grid.ac/institutes/grid.413795.d schema:alternateName Sheba Medical Center
247 schema:name Heller Institute of Medical Research, Sheba Medical Center, Tel Hashomer, Israel
248 The Multiple Sclerosis Center, Sheba Medical Center, Tel Hashomer, Israel
249 rdf:type schema:Organization
 




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


...