Das kongenitales nephrotisches Syndrom vom Typ 11 ist eine autosomal rezessive Erkrankung, die durch Mutationen des NUP107-Gens hervorgerufen werden.
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Zuccolo M et al. (2007) The human Nup107-160 nuclear pore subcomplex contributes to proper kinetochore functions. |
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Belgareh N et al. (2001) An evolutionarily conserved NPC subcomplex, which redistributes in part to kinetochores in mammalian cells. |
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Boehmer T et al. (2003) Depletion of a single nucleoporin, Nup107, prevents the assembly of a subset of nucleoporins into the nuclear pore complex. |
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Nagai S et al. (2008) Functional targeting of DNA damage to a nuclear pore-associated SUMO-dependent ubiquitin ligase. |
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Zheng X et al. (2012) Loss of zygotic NUP107 protein causes missing of pharyngeal skeleton and other tissue defects with impaired nuclear pore function in zebrafish embryos. |
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Miyake N et al. (2015) Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome. |
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Kitamura A et al. (2006) Genetics and clinical features of 15 Asian families with steroid-resistant nephrotic syndrome. |
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OMIM.ORG article Omim 616730 |