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The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase
Mutations in the TMEM260 gene cause structural heart defects and renal anomalies syndrome, but the function of the encoded protein remains unknown. We previously reported wide occurrence of O-mannose glycans on extracellular immunoglobulin, plexin, transcription factor (IPT) domains found in the hep...
Autores principales: | Larsen, Ida Signe Bohse, Povolo, Lorenzo, Zhou, Luping, Tian, Weihua, Mygind, Kasper Johansen, Hintze, John, Jiang, Chen, Hartill, Verity, Prescott, Katrina, Johnson, Colin A., Mullegama, Sureni V., McConkie-Rosell, Allyn, McDonald, Marie, Hansen, Lars, Vakhrushev, Sergey Y., Schjoldager, Katrine T., Clausen, Henrik, Worzfeld, Thomas, Joshi, Hiren J., Halim, Adnan |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
National Academy of Sciences
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10214176/ https://www.ncbi.nlm.nih.gov/pubmed/37186866 http://dx.doi.org/10.1073/pnas.2302584120 |
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