1 Ocak 2004 Dergi makalesi Açık Erişim

Lefevre, C; Bouadjar, B; Karaduman, A; Jobard, F; Saker, S; Ozguc, M; Lathrop, M; Prud'homme, JF; Fischer, J

DataCite XML

<?xml version='1.0' encoding='utf-8'?>
<resource xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xmlns="http://datacite.org/schema/kernel-4" xsi:schemaLocation="http://datacite.org/schema/kernel-4 http://schema.datacite.org/meta/kernel-4.1/metadata.xsd">
  <identifier identifierType="URL">https://aperta.ulakbim.gov.tr/record/94701</identifier>
  <creators>
    <creator>
      <creatorName>Lefevre, C</creatorName>
      <givenName>C</givenName>
      <familyName>Lefevre</familyName>
    </creator>
    <creator>
      <creatorName>Bouadjar, B</creatorName>
      <givenName>B</givenName>
      <familyName>Bouadjar</familyName>
    </creator>
    <creator>
      <creatorName>Karaduman, A</creatorName>
      <givenName>A</givenName>
      <familyName>Karaduman</familyName>
    </creator>
    <creator>
      <creatorName>Jobard, F</creatorName>
      <givenName>F</givenName>
      <familyName>Jobard</familyName>
    </creator>
    <creator>
      <creatorName>Saker, S</creatorName>
      <givenName>S</givenName>
      <familyName>Saker</familyName>
    </creator>
    <creator>
      <creatorName>Ozguc, M</creatorName>
      <givenName>M</givenName>
      <familyName>Ozguc</familyName>
    </creator>
    <creator>
      <creatorName>Lathrop, M</creatorName>
      <givenName>M</givenName>
      <familyName>Lathrop</familyName>
    </creator>
    <creator>
      <creatorName>Prud'homme, JF</creatorName>
      <givenName>JF</givenName>
      <familyName>Prud'homme</familyName>
    </creator>
    <creator>
      <creatorName>Fischer, J</creatorName>
      <givenName>J</givenName>
      <familyName>Fischer</familyName>
    </creator>
  </creators>
  <titles>
    <title>Mutations In Ichthyin A New Gene On Chromosome 5Q33 In A New Form Of Autosomal Recessive Congenital Ichthyosis</title>
  </titles>
  <publisher>Aperta</publisher>
  <publicationYear>2004</publicationYear>
  <dates>
    <date dateType="Issued">2004-01-01</date>
  </dates>
  <resourceType resourceTypeGeneral="Text">Journal article</resourceType>
  <alternateIdentifiers>
    <alternateIdentifier alternateIdentifierType="url">https://aperta.ulakbim.gov.tr/record/94701</alternateIdentifier>
  </alternateIdentifiers>
  <relatedIdentifiers>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsIdenticalTo">10.1093/hmg/ddh263</relatedIdentifier>
  </relatedIdentifiers>
  <rightsList>
    <rights rightsURI="http://www.opendefinition.org/licenses/cc-by">Creative Commons Attribution</rights>
    <rights rightsURI="info:eu-repo/semantics/openAccess">Open Access</rights>
  </rightsList>
  <descriptions>
    <description descriptionType="Abstract">We report the genomic localization by homozygosity mapping and the identification of a gene for a new form of non-syndromic autosomal recessive congenital ichthyosis. The phenotype usually presents as non-bullous congenital ichthyosiform erythroderma with fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. A few patients presented a more generalized lamellar ichthyosis. Palmoplantar keratoderma was present in all cases, whereas only 60% of the patients were born as collodion babies. Six homozygous mutations including one nonsense and five missense mutations were identified in a new gene, ichthyin, on chromosome 5q33 in 23 patients from 14 consanguineous families from Algeria, Colombia, Syria and Turkey. Ichthyin encodes a protein with several transmembrane domains which belongs to a new family of proteins of unknown function localized in the plasma membrane (PFAM: DUF803), with homologies to both transporters and G-protein coupled receptors. This family includes NIPA1, in which a mutation was recently described in a dominant form of spastic paraplegia (SPG6). We propose that ichthyin and NIPA1 are membrane receptors for ligands (trioxilins A3 and B3) from the hepoxilin pathway.</description>
  </descriptions>
</resource>