| Mutant CHUK and severe fetal encasement malformation. | |
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MedLine Citation:
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PMID: 20961246 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report an autosomal recessive lethal syndrome characterized by multiple fetal malformations, the most obvious anomalies being the defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin. We identified the molecular defect that causes this syndrome, using a combined strategy of gene-expression arrays, candidate-gene analysis, clinical studies, and genealogic investigations. A point mutation in two affected fetuses led to the loss of the conserved helix–loop–helix ubiquitous kinase (CHUK), also known as IκB kinase α. CHUK has an essential role in the development of skin epidermis and its derivatives, along with various other morphogenetic events. (Funded by the Academy of Finland and others.). |
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Authors:
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Jenni Lahtela; Heidi O Nousiainen; Vedran Stefanovic; Jonna Tallila; Heli Viskari; Riitta Karikoski; Massimiliano Gentile; Carola Saloranta; Teppo Varilo; Riitta Salonen; Marjo Kestilä |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: The New England journal of medicine Volume: 363 ISSN: 1533-4406 ISO Abbreviation: N. Engl. J. Med. Publication Date: 2010 Oct |
Date Detail:
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Created Date: 2010-10-21 Completed Date: 2010-10-28 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0255562 Medline TA: N Engl J Med Country: United States |
Other Details:
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Languages: eng Pagination: 1631-7 Citation Subset: AIM; IM |
Affiliation:
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National Institute for Health and Welfare, Public Health Genomics Unit, Helsinki University Hospital, Helsinki, Finland. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Animals Face / abnormalities* Gene Expression Genes, Recessive Humans I-kappa B Kinase / genetics* Limb Deformities, Congenital / genetics* Mice Mice, Knockout / genetics Pedigree Point Mutation* |
| Chemical | |
Reg. No./Substance:
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EC 2.7.11.10/CHUK protein, human; EC 2.7.11.10/I-kappa B Kinase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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