Kongenitales nephrotisches Syndrom vom Typ 11
Das kongenitales nephrotisches Syndrom vom Typ 11 ist eine autosomal rezessive Erkrankung, die durch Mutationen des NUP107-Gens hervorgerufen werden.
Gliederung
Referenzen:
| 1. |
Belgareh N et al. (2001) An evolutionarily conserved NPC subcomplex, which redistributes in part to kinetochores in mammalian cells. [^] |
| 2. |
Boehmer T et al. (2003) Depletion of a single nucleoporin, Nup107, prevents the assembly of a subset of nucleoporins into the nuclear pore complex. [^] |
| 3. |
Zuccolo M et al. (2007) The human Nup107-160 nuclear pore subcomplex contributes to proper kinetochore functions. [^] |
| 4. |
Nagai S et al. (2008) Functional targeting of DNA damage to a nuclear pore-associated SUMO-dependent ubiquitin ligase. [^] |
| 5. |
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. [^] |
| 6. |
Miyake N et al. (2015) Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome. [^] |
| 7. |
Kitamura A et al. (2006) Genetics and clinical features of 15 Asian families with steroid-resistant nephrotic syndrome. [^] |
| 8. |
OMIM.ORG article Omim 616730 [^] |
