| pubmed-article:20565770 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:20565770 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:20565770 | lifeskim:mentions | umls-concept:C0662925 | lld:lifeskim |
| pubmed-article:20565770 | lifeskim:mentions | umls-concept:C0542341 | lld:lifeskim |
| pubmed-article:20565770 | lifeskim:mentions | umls-concept:C1414305 | lld:lifeskim |
| pubmed-article:20565770 | pubmed:dateCreated | 2010-7-12 | lld:pubmed |
| pubmed-article:20565770 | pubmed:abstractText | Mutations of EFNB1 cause the X-linked malformation syndrome craniofrontonasal syndrome (CFNS). CFNS is characterized by an unusual phenotypic pattern of inheritance, because it affects heterozygous females more severely than hemizygous males. This sex-dependent inheritance has been explained by random X-inactivation in heterozygous females and the consequences of cellular interference of wild type and mutant EFNB1-expressing cell populations. EFNB1 encodes the transmembrane protein ephrin-B1, that forms bi-directional signalling complexes with Eph receptor tyrosine kinases expressed on complementary cells. Here, we studied the effects of patient-derived EFNB1 mutations predicted to give rise to truncated ephrin-B1 protein or to disturb Eph/ephrin-B1 reverse ephrin-B1 signalling. Five mutations are investigated in this work: nonsense mutation c.196C > T/p.R66X, frameshift mutation c.614_615delCT, splice-site mutation c.406 + 2T > C and two missense mutations p.P54L and p.T111I. Both missense mutations are located in the extracellular ephrin domain involved in Eph-ephrin-B1 recognition and higher order complex formation. | lld:pubmed |
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| pubmed-article:20565770 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20565770 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20565770 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20565770 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20565770 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20565770 | pubmed:commentsCorrections | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20565770 | pubmed:language | eng | lld:pubmed |
| pubmed-article:20565770 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:20565770 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:20565770 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
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| pubmed-article:20565770 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:20565770 | pubmed:issn | 1471-2350 | lld:pubmed |
| pubmed-article:20565770 | pubmed:author | pubmed-author:WieackerPeter... | lld:pubmed |
| pubmed-article:20565770 | pubmed:author | pubmed-author:WielandIlseI | lld:pubmed |
| pubmed-article:20565770 | pubmed:author | pubmed-author:TasicVeliborV | lld:pubmed |
| pubmed-article:20565770 | pubmed:author | pubmed-author:SteinerBernha... | lld:pubmed |
| pubmed-article:20565770 | pubmed:author | pubmed-author:GucevZoranZ | lld:pubmed |
| pubmed-article:20565770 | pubmed:author | pubmed-author:MakarovRomanR | lld:pubmed |
| pubmed-article:20565770 | pubmed:issnType | Electronic | lld:pubmed |
| pubmed-article:20565770 | pubmed:volume | 11 | lld:pubmed |
| pubmed-article:20565770 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:20565770 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:20565770 | pubmed:pagination | 98 | lld:pubmed |
| pubmed-article:20565770 | pubmed:dateRevised | 2010-9-30 | lld:pubmed |
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| pubmed-article:20565770 | pubmed:year | 2010 | lld:pubmed |
| pubmed-article:20565770 | pubmed:articleTitle | The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function. | lld:pubmed |
| pubmed-article:20565770 | pubmed:affiliation | Institut für Humangenetik, Universitätsklinikum, Otto-von-Guericke-Universität, Magdeburg, Germany. | lld:pubmed |
| pubmed-article:20565770 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:20565770 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:1947 | entrezgene:pubmed | pubmed-article:20565770 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:20565770 | lld:entrezgene |
