| Two novel biallelic mutations in PSMC3IP in a patient affected by premature ovarian insufficiency. | Two novel biallelic mutations in PSMC3IP in a patient affected by premature ovarian insufficiency.
Mei L, Huang L, Huang Y, Wu X, He H, He X, Su Z, Li P. | 03/12/2022 |
| Oct4 confers stemness and radioresistance to head and neck squamous cell carcinoma by regulating the homologous recombination factors PSMC3IP and RAD54L. | Oct4 confers stemness and radioresistance to head and neck squamous cell carcinoma by regulating the homologous recombination factors PSMC3IP and RAD54L.
Nathansen J, Lukiyanchuk V, Hein L, Stolte MI, Borgmann K, Löck S, Kurth I, Baumann M, Krause M, Linge A, Dubrovska A., Free PMC Article | 12/25/2021 |
| targeting PSMC3IP maybe a promising strategy for Hepatocellular carcinoma. | Knockdown of PSMC3IP suppresses the proliferation and xenografted tumorigenesis of hepatocellular carcinoma cell.
Ding J, Li Y, Fan H, Xu W, Gao R, Bai S, Zhu Z, Yang W, Gong Y, Yang J, Zhou J. | 07/18/2020 |
| Pathogenic variant in PSMC3IP gene is associated with premature ovarian insufficiency. | Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency.
Yang X, Touraine P, Desai S, Humphreys G, Jiang H, Yatsenko A, Rajkovic A., Free PMC Article | 04/6/2019 |
| The PSMC3IP mutation provides additional evidence that mutations in meiotic homologous recombination and DNA repair genes result in distinct female and male reproductive phenotypes, including delayed puberty and primary amenorrhea caused by Primary ovarian insufficiency (XX gonadal dysgenesis) in females but isolated azoospermia with normal pubertal development in males. | Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation.
Al-Agha AE, Ahmed IA, Nuebel E, Moriwaki M, Moore B, Peacock KA, Mosbruger T, Neklason DW, Jorde LB, Yandell M, Welt CK., Free PMC Article | 05/26/2018 |
| PSMC3IP gene mutations are not common causes of primary ovarian insufficiency in this Swedish cohort. | No mutations in the PSMC3IP gene identified in a Swedish cohort of women with primary ovarian insufficiency.
Norling A, Hirschberg AL, Karlsson L, Rodriguez-Wallberg KA, Iwarsson E, Wedell A, Barbaro M. | 04/18/2015 |
| GT198 mutant luteinized theca cells overexpressing CYP17 are common in ovarian cancer stroma. | Human ovarian cancer stroma contains luteinized theca cells harboring tumor suppressor gene GT198 mutations.
Peng M, Zhang H, Jaafar L, Risinger JI, Huang S, Mivechi NF, Ko L., Free PMC Article | 01/25/2014 |
| a PSMC3IP/HOP2 mutation may cause XX ovarian dysgenesis through abolishing coactivation of estrogen-driven transcription | XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription.
Zangen D, Kaufman Y, Zeligson S, Perlberg S, Fridman H, Kanaan M, Abdulhadi-Atwan M, Abu Libdeh A, Gussow A, Kisslov I, Carmel L, Renbaum P, Levy-Lahad E., Free PMC Article | 12/17/2011 |
| findings suggest that a component of 19S regulatory particles directly binds AR and might participate in AR-mediated transcriptional activation in cooperation with TBPIP. | Tat-binding protein-1 (TBP-1), an ATPase of 19S regulatory particles of the 26S proteasome, enhances androgen receptor function in cooperation with TBP-1-interacting protein/Hop2.
Satoh T, Ishizuka T, Tomaru T, Yoshino S, Nakajima Y, Hashimoto K, Shibusawa N, Monden T, Yamada M, Mori M., Free PMC Article | 01/21/2010 |
| Identification of GT198 (TBPIP/Hop2) as a nuclear receptor coactivator. GT198 is phosphorylation regulated. GT198 interacts with nuclear receptors. | Identification and characterization of a tissue-specific coactivator, GT198, that interacts with the DNA-binding domains of nuclear receptors.
Ko L, Cardona GR, Henrion-Caude A, Chin WW., Free PMC Article | 04/14/2009 |
| Observational study of gene-disease association. (HuGE Navigator) | Two single nucleotide polymorphisms in PRDM9 (MEISETZ) gene may be a genetic risk factor for Japanese patients with azoospermia by meiotic arrest.
Miyamoto T, Koh E, Sakugawa N, Sato H, Hayashi H, Namiki M, Sengoku K., Free PMC Article | 11/5/2008 |
| Data suggest that the human TBPIP/Hop2-Mnd1 complex may ensure proper pairing between homologous chromosomes through its stimulation of strand exchange during meiosis. | Stimulation of DNA strand exchange by the human TBPIP/Hop2-Mnd1 complex.
Enomoto R, Kinebuchi T, Sato M, Yagi H, Kurumizaka H, Yokoyama S. | 01/21/2010 |