The Opitz syndrome gene product MID1 assembles a microtubule-associated ribonucleoprotein complex

Opitz BBB/G syndrome (OS) is a heterogenous malformation syndrome mainly characterised by hypertelorism and hypospadias. In addition, patients may present with several other defects of the ventral midline such as cleft lip and palate and congenital heart defects. The syndrome-causing gene encodes th...

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Veröffentlicht in:	Human genetics 2008-03, Vol.123 (2), p.163-176
Hauptverfasser:	Aranda-Orgillés, Beatriz, Trockenbacher, Alexander, Winter, Jennifer, Aigner, Johanna, Köhler, Andrea, Jastrzebska, Ewa, Stahl, Joachim, Müller, Eva-Christina, Otto, Albrecht, Wanker, Erich E., Schneider, Rainer, Schweiger, Susann
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino acids Annexin A2 - genetics Annexin A2 - metabolism Annexins Antibodies Base Sequence Biomedical and Life Sciences Biomedicine Chromatography, Affinity Cloning Congenital heart disease Cytoskeleton Fluorescent Antibody Technique Gene Function Genes Genetic aspects Genetic Diseases, X-Linked - genetics Genetic translation GTP-Binding Proteins - genetics GTP-Binding Proteins - metabolism HeLa Cells Human Genetics Humans Immunoprecipitation In Situ Hybridization Kinases Ligases Metabolic Diseases Microtubule Proteins - genetics Microtubule Proteins - metabolism Microtubules - metabolism Molecular Medicine Molecular Sequence Data Neoplasm Proteins - genetics Neoplasm Proteins - metabolism Nuclear Proteins - genetics Nuclear Proteins - metabolism Nucleophosmin Original Investigation Peptide Elongation Factor 1 - genetics Peptide Elongation Factor 1 - metabolism Phosphatase Phosphatases Proteins Receptors for Activated C Kinase Receptors, Cell Surface - genetics Receptors, Cell Surface - metabolism Ribonucleoproteins - genetics Ribonucleoproteins - metabolism RNA RNA - metabolism RNA, Small Interfering - pharmacology Sequence Homology, Nucleic Acid Transcription Factors - genetics Transcription Factors - metabolism Two-Hybrid System Techniques Ubiquitin-Protein Ligases
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