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rdf:type |
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lifeskim:mentions |
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pubmed:dateCreated |
2010-7-12
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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.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-10353250,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-10403252,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-10611251,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-11301003,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-11557983,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-12139920,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-12185851,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-12919674,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-12973358,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-1427786,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-14535844,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-15037550,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-15124102,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-15166289,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-15210863,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-15363810,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-15586325,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-15928710,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-15959873,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-16101278,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-16211011,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-16526919,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-16685650,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-16968134,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-17420126,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-17576681,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-17941886,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-17954917,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-18043713,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-18339639,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-18469813,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-18604196,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-18694724,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-19214208,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-19717338,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-7294029,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-9049311,
http://linkedlifedata.com/resource/pubmed/commentcorrection/20565770-9644970
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
1471-2350
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
11
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
98
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pubmed:dateRevised |
2010-9-30
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pubmed:meshHeading |
pubmed-meshheading:20565770-Codon, Nonsense,
pubmed-meshheading:20565770-Craniosynostoses,
pubmed-meshheading:20565770-Ephrin-B1,
pubmed-meshheading:20565770-Ephrins,
pubmed-meshheading:20565770-Exons,
pubmed-meshheading:20565770-Female,
pubmed-meshheading:20565770-Frameshift Mutation,
pubmed-meshheading:20565770-Heterozygote,
pubmed-meshheading:20565770-Humans,
pubmed-meshheading:20565770-Male,
pubmed-meshheading:20565770-Mutagenesis, Site-Directed,
pubmed-meshheading:20565770-Mutation,
pubmed-meshheading:20565770-Mutation, Missense,
pubmed-meshheading:20565770-RNA Splice Sites,
pubmed-meshheading:20565770-Receptors, Eph Family,
pubmed-meshheading:20565770-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:20565770-Syndrome,
pubmed-meshheading:20565770-X Chromosome Inactivation
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pubmed:year |
2010
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pubmed:articleTitle |
The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function.
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pubmed:affiliation |
Institut für Humangenetik, Universitätsklinikum, Otto-von-Guericke-Universität, Magdeburg, Germany.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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