| Mutational screening of BASP1 and transcribed processed pseudogene TPPsig-BASP1 in patients with Möbius syndrome. | |
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MedLine Citation:
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PMID: 19376485 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Möbius syndrome is a rare disorder primarily characterized by congenital facial palsy, frequently accompanied by ocular abduction anomalies and occasionally associated with orofacial, limb and musculoskeletal malformations. Abnormal development of cranial nerves V through XII underlines the disease pathogenesis. Although a genetic etiology for Möbius syndrome was proposed, molecular genetic studies to identify the causative gene(s) are scarce. In this study, we selected two candidate genes. One is BASP1 residing in a human chromosome 5p15.1-p15.2, syntenic to mouse chromosome 15qA2-qB2, to which a mouse model with facial nerve anomalies was mapped. The other is transcribed processed pseudogene TPPsig-BASP1, which is located on chromosome 13q flanking the putative locus for Möbius syndrome and might be involved in the regulation of the transcripts encoded by BASP1. Mutation analyses in nineteen patients excluded these genes as being candidates for Möbius syndrome. |
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Authors:
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Abdullah Uzumcu; Sukru Candan; Guven Toksoy; Z Oya Uyguner; Birsen Karaman; Hacer Eris; Burak Tatli; Hulya Kayserili; Adnan Yuksel; Bilge Geckinli; Memnune Yuksel-Apak; Seher Basaran |
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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: Journal of genetics and genomics = Yi chuan xue bao Volume: 36 ISSN: 1673-8527 ISO Abbreviation: J Genet Genomics Publication Date: 2009 Apr |
Date Detail:
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Created Date: 2009-04-20 Completed Date: 2009-06-10 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101304616 Medline TA: J Genet Genomics Country: China |
Other Details:
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Languages: eng Pagination: 251-6 Citation Subset: IM |
Affiliation:
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Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Base Sequence Child Child, Preschool Chromosomes, Human, Pair 13 / genetics Chromosomes, Human, Pair 5 / genetics Female Humans Infant Male Membrane Proteins / genetics* Mobius Syndrome / genetics* Molecular Sequence Data Mutation* Nerve Tissue Proteins / genetics* Pseudogenes* Repressor Proteins / genetics* Transcription, Genetic* |
| Chemical | |
Reg. No./Substance:
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0/BASP1 protein, human; 0/Membrane Proteins; 0/Nerve Tissue Proteins; 0/Repressor Proteins |
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