Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children. | Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children. Han Y, Sha H, Yang Y, Yu Z, Zhou L, Wang Y, Yang F, Qiu L, Zhang Y, Zhou J., Free PMC Article | 06/30/2024 |
Whole exome sequencing identified a novel and rare missense variant in the NUP107 gene (c.1063C>T, p.R355C) in both sisters with HH. | Functional study of a novel missense single-nucleotide variant of NUP107 in two daughters of Mexican origin with premature ovarian insufficiency. Ren Y, Diao F, Katari S, Yatsenko S, Jiang H, Wood-Trageser MA, Rajkovic A., Free PMC Article | 09/29/2018 |
NUP107 was suggested as a candidate in a family with nephrotic syndrome and developmental delay. | Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome. Rosti RO, Sotak BN, Bielas SL, Bhat G, Silhavy JL, Aslanger AD, Altunoglu U, Bilge I, Tasdemir M, Yzaguirrem AD, Musaev D, Infante S, Thuong W, Marin-Valencia I, Nelson SF, Kayserili H, Gleeson JG. | 03/10/2018 |
Associations between biallelic NUP107 mutations and age at onset in children with steroid-resistant nephrotic syndrome. | NUP107 mutations in children with steroid-resistant nephrotic syndrome. Park E, Ahn YH, Kang HG, Miyake N, Tsukaguchi H, Cheong HI. | 01/13/2018 |
a variant in the 3'-UTR region Nup107 unique to sensitivity to platinum in ovarian cancer, was identified. | Single nucleotide variant in Nucleoporin 107 may be predictive of sensitivity to chemotherapy in patients with ovarian cancer. Alanee S, Delfino K, Wilber A, Robinson K, Brard L, Semaan A., Free PMC Article | 01/13/2018 |
Nup107-160 complex and its partner Elys dynamically colocalize with Nup98 and CRM1 into endogenous GLFG bodies present in specific HeLa sublines. | Intranuclear dynamics of the Nup107-160 complex. Morchoisne-Bolhy S, Geoffroy MC, Bouhlel IB, Alves A, Audugé N, Baudin X, Van Bortle K, Powers MA, Doye V., Free PMC Article | 05/21/2016 |
a recessive missense mutation in nucleoporin-107 (NUP107, c.1339G>A, p.D447N). This mutation segregated with the XX-GD phenotype and was not present in available databases or in 150 healthy ethnically matched controls. | A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis. Weinberg-Shukron A, Renbaum P, Kalifa R, Zeligson S, Ben-Neriah Z, Dreifuss A, Abu-Rayyan A, Maatuk N, Fardian N, Rekler D, Kanaan M, Samson AO, Levy-Lahad E, Gerlitz O, Zangen D., Free PMC Article | 02/27/2016 |
The central domain of Nup107 interfered with Apaf-1 nuclear translocation upon genotoxic stress, resulting in a marked reduction of Chk-1 activation and cell cycle arrest. | DNA damage-induced nuclear translocation of Apaf-1 is mediated by nucleoporin Nup107. Jagot-Lacoussiere L, Faye A, Bruzzoni-Giovanelli H, Villoutreix BO, Rain JC, Poyet JL., Free PMC Article | 01/30/2016 |
Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome. | Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome. Miyake N, Tsukaguchi H, Koshimizu E, Shono A, Matsunaga S, Shiina M, Mimura Y, Imamura S, Hirose T, Okudela K, Nozu K, Akioka Y, Hattori M, Yoshikawa N, Kitamura A, Cheong HI, Kagami S, Yamashita M, Fujita A, Miyatake S, Tsurusaki Y, Nakashima M, Saitsu H, Ohashi K, Imamoto N, Ryo A, Ogata K, Iijima K, Matsumoto N., Free PMC Article | 01/16/2016 |
The functions have been ascribed to the NUP107 complex, ranging from Nuclear Pore Complex (NPC) assembly to mRNA export to cell differentiation. | Dissecting the NUP107 complex: multiple components and even more functions. González-Aguilera C, Askjaer P. | 05/17/2014 |
Study shows that 32 copies of the Nup107 subcomplex assemble into two reticulated rings, one each at the cytoplasmic and nuclear face of the nuclear pore complex. | Integrated structural analysis of the human nuclear pore complex scaffold. Bui KH, von Appen A, DiGuilio AL, Ori A, Sparks L, Mackmull MT, Bock T, Hagen W, Andrés-Pons A, Glavy JS, Beck M. | 02/22/2014 |
The SUMO-specific isopeptidase SENP2 associates dynamically with nuclear pore complexes through interactions with karyopherins and the Nup107-160 nucleoporin subcomplex. | The SUMO-specific isopeptidase SENP2 associates dynamically with nuclear pore complexes through interactions with karyopherins and the Nup107-160 nucleoporin subcomplex. Goeres J, Chan PK, Mukhopadhyay D, Zhang H, Raught B, Matunis MJ., Free PMC Article | 08/4/2012 |
did a Trypan Blue cell viability assay and it showed increased cell death in NUP107 transfected cells than untreated control | Depletion of a single nucleoporin, Nup107, induces apoptosis in eukaryotic cells. Banerjee HN, Gibbs J, Jordan T, Blackshear M. | 03/5/2011 |
These findings support the notion that Nup107 may contribute significantly to the regulation of cell fate in aged and transformed cells by modulating nuclear trafficking of signal molecules. | Reduction of Nup107 attenuates the growth factor signaling in the senescent cells. Kim SY, Kang HT, Choi HR, Park SC. | 12/4/2010 |
A major function of the Nup107 complex in mitosis is to ensure the proper localization of the chromosome passenger complex at the centromere. | The Nup107-160 nucleoporin complex promotes mitotic events via control of the localization state of the chromosome passenger complex. Platani M, Santarella-Mellwig R, Posch M, Walczak R, Swedlow JR, Mattaj IW., Free PMC Article | 03/15/2010 |
Data show that Nup107-160 promotes spindle assembly through Ran-GTP-regulated nucleation of microtubules by gamma-TuRC at kinetochores, and reveal a relationship between nucleoporins and the microtubule cytoskeleton. | The Nup107-160 complex and gamma-TuRC regulate microtubule polymerization at kinetochores. Mishra RK, Chakraborty P, Arnaoutov A, Fontoura BM, Dasso M., Free PMC Article | 03/1/2010 |
Data present crystal structures of yNup170(979-1502) and hNup107(658-925) x hNup133(517-1156), and conservation of domain arrangement and of tertiary structure suggests that Nup157/170 and Nup133 derived from a common ancestor. | Architectural nucleoporins Nup157/170 and Nup133 are structurally related and descend from a second ancestral element. Whittle JRR, Schwartz TU., Free PMC Article | 01/21/2010 |
The significant topological differences between Nup107 and Nup133 suggest that helical nucleoporin domains of the nuclear pore complex scaffold fall in different classes and fulfill largely nonredundant functions. | Structural and functional studies of Nup107/Nup133 interaction and its implications for the architecture of the nuclear pore complex. Boehmer T, Jeudy S, Berke IC, Schwartz TU., Free PMC Article | 01/21/2010 |
When complexed with NUP133, this complex will give the first insights into the protein-protein interactions within a core module of the nuclear pore complex. | Purification, crystallization and preliminary X-ray analysis of a Nup107-Nup133 heterodimeric nucleoporin complex. Boehmer T, Schwartz TU., Free PMC Article | 01/21/2010 |
These data thus provide the first molecular clues underlying the function of the human Nup107-160 complex at kinetochores. | The human Nup107-160 nuclear pore subcomplex contributes to proper kinetochore functions. Zuccolo M, Alves A, Galy V, Bolhy S, Formstecher E, Racine V, Sibarita JB, Fukagawa T, Shiekhattar R, Yen T, Doye V., Free PMC Article | 01/21/2010 |
Nup107 functions as a keystone Nup that is required for the assembly of a subset of Nups into the nuclear pore complex | Depletion of a single nucleoporin, Nup107, prevents the assembly of a subset of nucleoporins into the nuclear pore complex. Boehmer T, Enninga J, Dales S, Blobel G, Zhong H., Free PMC Article | 01/21/2010 |
Nup107-160 complex is dynamic in mitosis and that it promotes spindle assembly in a manner that is distinct from its functions at interphase nuclear pores. | The Nup107-160 nucleoporin complex is required for correct bipolar spindle assembly. Orjalo AV, Arnaoutov A, Shen Z, Boyarchuk Y, Zeitlin SG, Fontoura B, Briggs S, Dasso M, Forbes DJ., Free PMC Article | 01/21/2010 |
phosphorylation does not affect interactions within the Nup107-160 subcomplex, but regulates the association of the subcomplex with the NPC and other proteins | Cell-cycle-dependent phosphorylation of the nuclear pore Nup107-160 subcomplex. Glavy JS, Krutchinsky AN, Cristea IM, Berke IC, Boehmer T, Blobel G, Chait BT., Free PMC Article | 01/21/2010 |