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

Dublin Core

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  <dc:creator>Lefevre, C</dc:creator>
  <dc:creator>Bouadjar, B</dc:creator>
  <dc:creator>Karaduman, A</dc:creator>
  <dc:creator>Jobard, F</dc:creator>
  <dc:creator>Saker, S</dc:creator>
  <dc:creator>Ozguc, M</dc:creator>
  <dc:creator>Lathrop, M</dc:creator>
  <dc:creator>Prud'homme, JF</dc:creator>
  <dc:creator>Fischer, J</dc:creator>
  <dc:date>2004-01-01</dc:date>
  <dc:description>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.</dc:description>
  <dc:identifier>https://aperta.ulakbim.gov.trrecord/94701</dc:identifier>
  <dc:identifier>oai:zenodo.org:94701</dc:identifier>
  <dc:rights>info:eu-repo/semantics/openAccess</dc:rights>
  <dc:rights>http://www.opendefinition.org/licenses/cc-by</dc:rights>
  <dc:source>HUMAN MOLECULAR GENETICS 13(20) 2473-2482</dc:source>
  <dc:title>Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis</dc:title>
  <dc:type>info:eu-repo/semantics/article</dc:type>
  <dc:type>publication-article</dc:type>
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