Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2009-10-21

AUTHORS

Lucia Micale, Maria Giuseppina Turturo, Carmela Fusco, Bartolomeo Augello, Luis A Pérez Jurado, Claudia Izzi, Maria Cristina Digilio, Donatella Milani, Elisabetta Lapi, Leopoldo Zelante, Giuseppe Merla

ABSTRACT

Supravalvular aortic stenosis (SVAS) is a congenital narrowing of the ascending aorta, which can occur sporadically as an autosomal dominant condition or as one component of the Williams–Beuren syndrome, a complex developmental genomic disorder associated with cardiovascular, neurobehavioral, craniofacial, and metabolic abnormalities, caused by a microdeletion at 7q11.23. We report the identification of seven novel mutations within the elastin gene in 31 familial and sporadic cases of nonsyndromic SVAS. Five are frameshift mutations within the coding region of the ELN gene that result in premature stop codons (PTCs); the other two mutations abolish the donor splice site of introns 3 and 28, respectively, and are predicted to alter splicing efficiency resulting in the generation of a PTC within the same introns of the gene. In vitro analysis using minigenes and cycloheximide showed that some selected frameshift mutant alleles are substrates of nonsense-mediated mRNA decay (NMD), confirming that the functional haploinsufficiency of the ELN gene is the main pathomechanism underlying SVAS. Interestingly, molecular analysis on patient fibroblasts showed that the c.2044+5G>C mutant allele encodes for an aberrant shorter form of the elastin polypeptide that may hamper the normal assembly of elastin fibers in a dominant-negative manner. More... »

PAGES

317-323

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ejhg.2009.181

DOI

http://dx.doi.org/10.1038/ejhg.2009.181

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1008333945

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/19844261


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/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Aortic Stenosis, Supravalvular", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Base Sequence", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cell Line", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cohort Studies", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cycloheximide", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "DNA Mutational Analysis", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Elastin", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Gene Expression Regulation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Molecular Sequence Data", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "RNA Splice Sites", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "RNA, Messenger", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Laboratory of Medical Genetics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy", 
          "id": "http://www.grid.ac/institutes/grid.413503.0", 
          "name": [
            "Laboratory of Medical Genetics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Micale", 
        "givenName": "Lucia", 
        "id": "sg:person.0746744502.41", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0746744502.41"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Laboratory of Medical Genetics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy", 
          "id": "http://www.grid.ac/institutes/grid.413503.0", 
          "name": [
            "Laboratory of Medical Genetics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Turturo", 
        "givenName": "Maria Giuseppina", 
        "id": "sg:person.01273362375.48", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01273362375.48"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Biomedical Sciences, PhD Program, University of Foggia, Foggia, Italy", 
          "id": "http://www.grid.ac/institutes/grid.10796.39", 
          "name": [
            "Laboratory of Medical Genetics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy", 
            "Department of Biomedical Sciences, PhD Program, University of Foggia, Foggia, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Fusco", 
        "givenName": "Carmela", 
        "id": "sg:person.01212413536.64", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01212413536.64"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Laboratory of Medical Genetics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy", 
          "id": "http://www.grid.ac/institutes/grid.413503.0", 
          "name": [
            "Laboratory of Medical Genetics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Augello", 
        "givenName": "Bartolomeo", 
        "id": "sg:person.01177421502.28", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01177421502.28"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Programa de Medicina Molecular i Gen\u00e9tica, Hospital Vall d\u2019Hebron, Barcelona, Spain", 
          "id": "http://www.grid.ac/institutes/grid.411083.f", 
          "name": [
            "Unitat de Gen\u00e9tica, Universitat Pompeu Fabra, and Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras Barcelona, Barcelona, Spain", 
            "Programa de Medicina Molecular i Gen\u00e9tica, Hospital Vall d\u2019Hebron, Barcelona, Spain"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Jurado", 
        "givenName": "Luis A P\u00e9rez", 
        "id": "sg:person.0670542627.82", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0670542627.82"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Obstetrics and Gynaecology, Prenatal Diagnosis Unit, Spedali Civili of Brescia, Brescia, Italy", 
          "id": "http://www.grid.ac/institutes/grid.412725.7", 
          "name": [
            "Department of Obstetrics and Gynaecology, Prenatal Diagnosis Unit, Spedali Civili of Brescia, Brescia, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Izzi", 
        "givenName": "Claudia", 
        "id": "sg:person.01050062233.54", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01050062233.54"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Laboratory of Medical Genetics Service, IRCCS Bambin Ges\u00f9, Pediatric Hospital, Roma, Italy", 
          "id": "http://www.grid.ac/institutes/grid.414603.4", 
          "name": [
            "Laboratory of Medical Genetics Service, IRCCS Bambin Ges\u00f9, Pediatric Hospital, Roma, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Digilio", 
        "givenName": "Maria Cristina", 
        "id": "sg:person.01164160712.36", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01164160712.36"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Institute of Pediatrics, University of Milan, Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milano, Italy", 
          "id": "http://www.grid.ac/institutes/grid.4708.b", 
          "name": [
            "Institute of Pediatrics, University of Milan, Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milano, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Milani", 
        "givenName": "Donatella", 
        "id": "sg:person.01221751572.91", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01221751572.91"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Medical Genetics Unit, Meyer Clinic, Firenze, Italy", 
          "id": "http://www.grid.ac/institutes/None", 
          "name": [
            "Medical Genetics Unit, Meyer Clinic, Firenze, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lapi", 
        "givenName": "Elisabetta", 
        "id": "sg:person.01176011411.01", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01176011411.01"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy", 
          "id": "http://www.grid.ac/institutes/grid.413503.0", 
          "name": [
            "Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Zelante", 
        "givenName": "Leopoldo", 
        "id": "sg:person.01333641415.82", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01333641415.82"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Laboratory of Medical Genetics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy", 
          "id": "http://www.grid.ac/institutes/grid.413503.0", 
          "name": [
            "Laboratory of Medical Genetics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Merla", 
        "givenName": "Giuseppe", 
        "id": "sg:person.0666654566.01", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0666654566.01"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1038/ejhg.2008.68", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003666980", 
          "https://doi.org/10.1038/ejhg.2008.68"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s004390050926", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000836420", 
          "https://doi.org/10.1007/s004390050926"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s002469900415", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034680207", 
          "https://doi.org/10.1007/s002469900415"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s004390000285", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1053367381", 
          "https://doi.org/10.1007/s004390000285"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00246-005-0885-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041340583", 
          "https://doi.org/10.1007/s00246-005-0885-8"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng0993-11", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017126361", 
          "https://doi.org/10.1038/ng0993-11"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5200564", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1012390099", 
          "https://doi.org/10.1038/sj.ejhg.5200564"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2009-10-21", 
    "datePublishedReg": "2009-10-21", 
    "description": "Supravalvular aortic stenosis (SVAS) is a congenital narrowing of the ascending aorta, which can occur sporadically as an autosomal dominant condition or as one component of the Williams\u2013Beuren syndrome, a complex developmental genomic disorder associated with cardiovascular, neurobehavioral, craniofacial, and metabolic abnormalities, caused by a microdeletion at 7q11.23. We report the identification of seven novel mutations within the elastin gene in 31 familial and sporadic cases of nonsyndromic SVAS. Five are frameshift mutations within the coding region of the ELN gene that result in premature stop codons (PTCs); the other two mutations abolish the donor splice site of introns 3 and 28, respectively, and are predicted to alter splicing efficiency resulting in the generation of a PTC within the same introns of the gene. In vitro analysis using minigenes and cycloheximide showed that some selected frameshift mutant alleles are substrates of nonsense-mediated mRNA decay (NMD), confirming that the functional haploinsufficiency of the ELN gene is the main pathomechanism underlying SVAS. Interestingly, molecular analysis on patient fibroblasts showed that the c.2044+5G>C mutant allele encodes for an aberrant shorter form of the elastin polypeptide that may hamper the normal assembly of elastin fibers in a dominant-negative manner.", 
    "genre": "article", 
    "id": "sg:pub.10.1038/ejhg.2009.181", 
    "inLanguage": "en", 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1103410", 
        "issn": [
          "1018-4813", 
          "1476-5438"
        ], 
        "name": "European Journal of Human Genetics", 
        "publisher": "Springer Nature", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "3", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "18"
      }
    ], 
    "keywords": [
      "nonsense-mediated mRNA decay", 
      "premature stop codon", 
      "mutant alleles", 
      "elastin gene", 
      "ELN gene", 
      "dominant-negative manner", 
      "novel mutations", 
      "mRNA decay", 
      "splicing efficiency", 
      "elastin polypeptides", 
      "donor splice site", 
      "same intron", 
      "normal assembly", 
      "genomic disorders", 
      "stop codon", 
      "splice site", 
      "supravalvular aortic stenosis", 
      "functional haploinsufficiency", 
      "genes", 
      "patient fibroblasts", 
      "Williams-Beuren syndrome", 
      "intron 3", 
      "molecular analysis", 
      "frameshift mutation", 
      "mutations", 
      "alleles", 
      "introns", 
      "codon", 
      "minigene", 
      "polypeptide", 
      "elastin fibers", 
      "autosomal dominant condition", 
      "identification", 
      "haploinsufficiency", 
      "cycloheximide", 
      "fibroblasts", 
      "assembly", 
      "dominant condition", 
      "main pathomechanism", 
      "microdeletion", 
      "sporadic cases", 
      "sites", 
      "substrate", 
      "characterization", 
      "manner", 
      "region", 
      "analysis", 
      "pathomechanism", 
      "components", 
      "short form", 
      "generation", 
      "form", 
      "conditions", 
      "metabolic abnormalities", 
      "abnormalities", 
      "disorders", 
      "decay", 
      "syndrome", 
      "efficiency", 
      "fibers", 
      "congenital narrowing", 
      "aorta", 
      "cohort", 
      "cases", 
      "cohort of patients", 
      "patients", 
      "narrowing", 
      "aortic stenosis", 
      "stenosis", 
      "complex developmental genomic disorder", 
      "developmental genomic disorder", 
      "nonsyndromic SVAS", 
      "frameshift mutant alleles", 
      "aberrant shorter form"
    ], 
    "name": "Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis", 
    "pagination": "317-323", 
    "productId": [
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1008333945"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/ejhg.2009.181"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "19844261"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/ejhg.2009.181", 
      "https://app.dimensions.ai/details/publication/pub.1008333945"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2022-01-01T18:20", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-springernature-scigraph/baseset/20220101/entities/gbq_results/article/article_486.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://doi.org/10.1038/ejhg.2009.181"
  }
]
 

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/ejhg.2009.181'

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/ejhg.2009.181'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ejhg.2009.181'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ejhg.2009.181'


 

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

308 TRIPLES      22 PREDICATES      120 URIs      105 LITERALS      20 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/ejhg.2009.181 schema:about N0e2c40dcbb684e23b716cc900a50fc98
2 N21e493ab1ec4433398bb1e277c20b654
3 N65da5c12fc064f32b210e6a982a09a06
4 N91537fccc3c94a6994a5f92ee85b1050
5 N923e2703706645b6a9beaf2cf25bed1c
6 Na15aebafa224463398b4048cf250f20f
7 Nb449f9569c1b41c3b14c09c0d5da7639
8 Nb8c864391d3740f8a1d67b69a5f91326
9 Nc2b861b94e044d7eafbfc40af55f4131
10 Nd8bb2ce916a5423baac0b67da884209b
11 Ne0c868b6e8bc4832865021a48bcf0744
12 Nee9cae34a2b94379b5a25eb4e2e14187
13 Nfb73bad0c2914973a3199e226985deec
14 anzsrc-for:06
15 anzsrc-for:0604
16 schema:author Ned7d53f3cc524277ac905a77fb584411
17 schema:citation sg:pub.10.1007/s00246-005-0885-8
18 sg:pub.10.1007/s002469900415
19 sg:pub.10.1007/s004390000285
20 sg:pub.10.1007/s004390050926
21 sg:pub.10.1038/ejhg.2008.68
22 sg:pub.10.1038/ng0993-11
23 sg:pub.10.1038/sj.ejhg.5200564
24 schema:datePublished 2009-10-21
25 schema:datePublishedReg 2009-10-21
26 schema:description Supravalvular aortic stenosis (SVAS) is a congenital narrowing of the ascending aorta, which can occur sporadically as an autosomal dominant condition or as one component of the Williams–Beuren syndrome, a complex developmental genomic disorder associated with cardiovascular, neurobehavioral, craniofacial, and metabolic abnormalities, caused by a microdeletion at 7q11.23. We report the identification of seven novel mutations within the elastin gene in 31 familial and sporadic cases of nonsyndromic SVAS. Five are frameshift mutations within the coding region of the ELN gene that result in premature stop codons (PTCs); the other two mutations abolish the donor splice site of introns 3 and 28, respectively, and are predicted to alter splicing efficiency resulting in the generation of a PTC within the same introns of the gene. In vitro analysis using minigenes and cycloheximide showed that some selected frameshift mutant alleles are substrates of nonsense-mediated mRNA decay (NMD), confirming that the functional haploinsufficiency of the ELN gene is the main pathomechanism underlying SVAS. Interestingly, molecular analysis on patient fibroblasts showed that the c.2044+5G>C mutant allele encodes for an aberrant shorter form of the elastin polypeptide that may hamper the normal assembly of elastin fibers in a dominant-negative manner.
27 schema:genre article
28 schema:inLanguage en
29 schema:isAccessibleForFree true
30 schema:isPartOf Ne263f9cf62bd4b9886ee1414a39d0e58
31 Ne6e01f91a5b64d8eb96a6d5c950907bd
32 sg:journal.1103410
33 schema:keywords ELN gene
34 Williams-Beuren syndrome
35 aberrant shorter form
36 abnormalities
37 alleles
38 analysis
39 aorta
40 aortic stenosis
41 assembly
42 autosomal dominant condition
43 cases
44 characterization
45 codon
46 cohort
47 cohort of patients
48 complex developmental genomic disorder
49 components
50 conditions
51 congenital narrowing
52 cycloheximide
53 decay
54 developmental genomic disorder
55 disorders
56 dominant condition
57 dominant-negative manner
58 donor splice site
59 efficiency
60 elastin fibers
61 elastin gene
62 elastin polypeptides
63 fibers
64 fibroblasts
65 form
66 frameshift mutant alleles
67 frameshift mutation
68 functional haploinsufficiency
69 generation
70 genes
71 genomic disorders
72 haploinsufficiency
73 identification
74 intron 3
75 introns
76 mRNA decay
77 main pathomechanism
78 manner
79 metabolic abnormalities
80 microdeletion
81 minigene
82 molecular analysis
83 mutant alleles
84 mutations
85 narrowing
86 nonsense-mediated mRNA decay
87 nonsyndromic SVAS
88 normal assembly
89 novel mutations
90 pathomechanism
91 patient fibroblasts
92 patients
93 polypeptide
94 premature stop codon
95 region
96 same intron
97 short form
98 sites
99 splice site
100 splicing efficiency
101 sporadic cases
102 stenosis
103 stop codon
104 substrate
105 supravalvular aortic stenosis
106 syndrome
107 schema:name Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis
108 schema:pagination 317-323
109 schema:productId N0e98ab24288f426eab4c3b371582a32a
110 N33c462cb194f434c8a006b6649fa3222
111 Ndaf1ca7b332f44319c8a733713682f66
112 schema:sameAs https://app.dimensions.ai/details/publication/pub.1008333945
113 https://doi.org/10.1038/ejhg.2009.181
114 schema:sdDatePublished 2022-01-01T18:20
115 schema:sdLicense https://scigraph.springernature.com/explorer/license/
116 schema:sdPublisher Nf4448fb0bf0846fc871cad397c53ffe0
117 schema:url https://doi.org/10.1038/ejhg.2009.181
118 sgo:license sg:explorer/license/
119 sgo:sdDataset articles
120 rdf:type schema:ScholarlyArticle
121 N0c3a9c711c6442728cf874beb26b7b44 rdf:first sg:person.01273362375.48
122 rdf:rest N56408c4b004d4b37ad6cafe1720411e2
123 N0e2c40dcbb684e23b716cc900a50fc98 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
124 schema:name Base Sequence
125 rdf:type schema:DefinedTerm
126 N0e98ab24288f426eab4c3b371582a32a schema:name pubmed_id
127 schema:value 19844261
128 rdf:type schema:PropertyValue
129 N10336726c6a5475280bca0826fd84217 rdf:first sg:person.01333641415.82
130 rdf:rest N33661844bdec48f6845db6bafa7818c5
131 N1c2416356a9942d8889922e06687cbab rdf:first sg:person.0670542627.82
132 rdf:rest N474c5e6f92ba4ea492d1cd3205c2b413
133 N21e493ab1ec4433398bb1e277c20b654 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
134 schema:name Cycloheximide
135 rdf:type schema:DefinedTerm
136 N33661844bdec48f6845db6bafa7818c5 rdf:first sg:person.0666654566.01
137 rdf:rest rdf:nil
138 N33c462cb194f434c8a006b6649fa3222 schema:name dimensions_id
139 schema:value pub.1008333945
140 rdf:type schema:PropertyValue
141 N474c5e6f92ba4ea492d1cd3205c2b413 rdf:first sg:person.01050062233.54
142 rdf:rest Nb86cd37f65e6464f98991fd3c4adc72d
143 N56408c4b004d4b37ad6cafe1720411e2 rdf:first sg:person.01212413536.64
144 rdf:rest Na693cd7bf4704a84aec98cf4cb73fa50
145 N65da5c12fc064f32b210e6a982a09a06 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
146 schema:name DNA Mutational Analysis
147 rdf:type schema:DefinedTerm
148 N8fa77b4f3d434c8aa0f684b619cab5f9 rdf:first sg:person.01176011411.01
149 rdf:rest N10336726c6a5475280bca0826fd84217
150 N91537fccc3c94a6994a5f92ee85b1050 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
151 schema:name Aortic Stenosis, Supravalvular
152 rdf:type schema:DefinedTerm
153 N923e2703706645b6a9beaf2cf25bed1c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
154 schema:name Mutation
155 rdf:type schema:DefinedTerm
156 Na15aebafa224463398b4048cf250f20f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
157 schema:name Molecular Sequence Data
158 rdf:type schema:DefinedTerm
159 Na693cd7bf4704a84aec98cf4cb73fa50 rdf:first sg:person.01177421502.28
160 rdf:rest N1c2416356a9942d8889922e06687cbab
161 Nb449f9569c1b41c3b14c09c0d5da7639 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
162 schema:name Humans
163 rdf:type schema:DefinedTerm
164 Nb86cd37f65e6464f98991fd3c4adc72d rdf:first sg:person.01164160712.36
165 rdf:rest Ne666c56439444abaadbcf2d2d746d390
166 Nb8c864391d3740f8a1d67b69a5f91326 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
167 schema:name Cohort Studies
168 rdf:type schema:DefinedTerm
169 Nc2b861b94e044d7eafbfc40af55f4131 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
170 schema:name RNA Splice Sites
171 rdf:type schema:DefinedTerm
172 Nd8bb2ce916a5423baac0b67da884209b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
173 schema:name Cell Line
174 rdf:type schema:DefinedTerm
175 Ndaf1ca7b332f44319c8a733713682f66 schema:name doi
176 schema:value 10.1038/ejhg.2009.181
177 rdf:type schema:PropertyValue
178 Ne0c868b6e8bc4832865021a48bcf0744 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
179 schema:name Elastin
180 rdf:type schema:DefinedTerm
181 Ne263f9cf62bd4b9886ee1414a39d0e58 schema:issueNumber 3
182 rdf:type schema:PublicationIssue
183 Ne666c56439444abaadbcf2d2d746d390 rdf:first sg:person.01221751572.91
184 rdf:rest N8fa77b4f3d434c8aa0f684b619cab5f9
185 Ne6e01f91a5b64d8eb96a6d5c950907bd schema:volumeNumber 18
186 rdf:type schema:PublicationVolume
187 Ned7d53f3cc524277ac905a77fb584411 rdf:first sg:person.0746744502.41
188 rdf:rest N0c3a9c711c6442728cf874beb26b7b44
189 Nee9cae34a2b94379b5a25eb4e2e14187 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
190 schema:name Gene Expression Regulation
191 rdf:type schema:DefinedTerm
192 Nf4448fb0bf0846fc871cad397c53ffe0 schema:name Springer Nature - SN SciGraph project
193 rdf:type schema:Organization
194 Nfb73bad0c2914973a3199e226985deec schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
195 schema:name RNA, Messenger
196 rdf:type schema:DefinedTerm
197 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
198 schema:name Biological Sciences
199 rdf:type schema:DefinedTerm
200 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
201 schema:name Genetics
202 rdf:type schema:DefinedTerm
203 sg:journal.1103410 schema:issn 1018-4813
204 1476-5438
205 schema:name European Journal of Human Genetics
206 schema:publisher Springer Nature
207 rdf:type schema:Periodical
208 sg:person.01050062233.54 schema:affiliation grid-institutes:grid.412725.7
209 schema:familyName Izzi
210 schema:givenName Claudia
211 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01050062233.54
212 rdf:type schema:Person
213 sg:person.01164160712.36 schema:affiliation grid-institutes:grid.414603.4
214 schema:familyName Digilio
215 schema:givenName Maria Cristina
216 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01164160712.36
217 rdf:type schema:Person
218 sg:person.01176011411.01 schema:affiliation grid-institutes:None
219 schema:familyName Lapi
220 schema:givenName Elisabetta
221 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01176011411.01
222 rdf:type schema:Person
223 sg:person.01177421502.28 schema:affiliation grid-institutes:grid.413503.0
224 schema:familyName Augello
225 schema:givenName Bartolomeo
226 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01177421502.28
227 rdf:type schema:Person
228 sg:person.01212413536.64 schema:affiliation grid-institutes:grid.10796.39
229 schema:familyName Fusco
230 schema:givenName Carmela
231 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01212413536.64
232 rdf:type schema:Person
233 sg:person.01221751572.91 schema:affiliation grid-institutes:grid.4708.b
234 schema:familyName Milani
235 schema:givenName Donatella
236 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01221751572.91
237 rdf:type schema:Person
238 sg:person.01273362375.48 schema:affiliation grid-institutes:grid.413503.0
239 schema:familyName Turturo
240 schema:givenName Maria Giuseppina
241 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01273362375.48
242 rdf:type schema:Person
243 sg:person.01333641415.82 schema:affiliation grid-institutes:grid.413503.0
244 schema:familyName Zelante
245 schema:givenName Leopoldo
246 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01333641415.82
247 rdf:type schema:Person
248 sg:person.0666654566.01 schema:affiliation grid-institutes:grid.413503.0
249 schema:familyName Merla
250 schema:givenName Giuseppe
251 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0666654566.01
252 rdf:type schema:Person
253 sg:person.0670542627.82 schema:affiliation grid-institutes:grid.411083.f
254 schema:familyName Jurado
255 schema:givenName Luis A Pérez
256 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0670542627.82
257 rdf:type schema:Person
258 sg:person.0746744502.41 schema:affiliation grid-institutes:grid.413503.0
259 schema:familyName Micale
260 schema:givenName Lucia
261 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0746744502.41
262 rdf:type schema:Person
263 sg:pub.10.1007/s00246-005-0885-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041340583
264 https://doi.org/10.1007/s00246-005-0885-8
265 rdf:type schema:CreativeWork
266 sg:pub.10.1007/s002469900415 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034680207
267 https://doi.org/10.1007/s002469900415
268 rdf:type schema:CreativeWork
269 sg:pub.10.1007/s004390000285 schema:sameAs https://app.dimensions.ai/details/publication/pub.1053367381
270 https://doi.org/10.1007/s004390000285
271 rdf:type schema:CreativeWork
272 sg:pub.10.1007/s004390050926 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000836420
273 https://doi.org/10.1007/s004390050926
274 rdf:type schema:CreativeWork
275 sg:pub.10.1038/ejhg.2008.68 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003666980
276 https://doi.org/10.1038/ejhg.2008.68
277 rdf:type schema:CreativeWork
278 sg:pub.10.1038/ng0993-11 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017126361
279 https://doi.org/10.1038/ng0993-11
280 rdf:type schema:CreativeWork
281 sg:pub.10.1038/sj.ejhg.5200564 schema:sameAs https://app.dimensions.ai/details/publication/pub.1012390099
282 https://doi.org/10.1038/sj.ejhg.5200564
283 rdf:type schema:CreativeWork
284 grid-institutes:None schema:alternateName Medical Genetics Unit, Meyer Clinic, Firenze, Italy
285 schema:name Medical Genetics Unit, Meyer Clinic, Firenze, Italy
286 rdf:type schema:Organization
287 grid-institutes:grid.10796.39 schema:alternateName Department of Biomedical Sciences, PhD Program, University of Foggia, Foggia, Italy
288 schema:name Department of Biomedical Sciences, PhD Program, University of Foggia, Foggia, Italy
289 Laboratory of Medical Genetics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
290 rdf:type schema:Organization
291 grid-institutes:grid.411083.f schema:alternateName Programa de Medicina Molecular i Genética, Hospital Vall d’Hebron, Barcelona, Spain
292 schema:name Programa de Medicina Molecular i Genética, Hospital Vall d’Hebron, Barcelona, Spain
293 Unitat de Genética, Universitat Pompeu Fabra, and Centro de Investigación Biomédica en Red de Enfermedades Raras Barcelona, Barcelona, Spain
294 rdf:type schema:Organization
295 grid-institutes:grid.412725.7 schema:alternateName Department of Obstetrics and Gynaecology, Prenatal Diagnosis Unit, Spedali Civili of Brescia, Brescia, Italy
296 schema:name Department of Obstetrics and Gynaecology, Prenatal Diagnosis Unit, Spedali Civili of Brescia, Brescia, Italy
297 rdf:type schema:Organization
298 grid-institutes:grid.413503.0 schema:alternateName Laboratory of Medical Genetics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
299 Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
300 schema:name Laboratory of Medical Genetics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
301 Medical Genetics Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
302 rdf:type schema:Organization
303 grid-institutes:grid.414603.4 schema:alternateName Laboratory of Medical Genetics Service, IRCCS Bambin Gesù, Pediatric Hospital, Roma, Italy
304 schema:name Laboratory of Medical Genetics Service, IRCCS Bambin Gesù, Pediatric Hospital, Roma, Italy
305 rdf:type schema:Organization
306 grid-institutes:grid.4708.b schema:alternateName Institute of Pediatrics, University of Milan, Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milano, Italy
307 schema:name Institute of Pediatrics, University of Milan, Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milano, Italy
308 rdf:type schema:Organization
 




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


...