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Did you mean schaper (2,231 results)?
SCAPER-associated nonsyndromic autosomal recessive retinitis pigmentosa.
Jauregui R, Thomas AL, Liechty B, Velez G, Mahajan VB, Clark L, Tsang SH. Jauregui R, et al. Am J Med Genet A. 2019 Feb;179(2):312-316. doi: 10.1002/ajmg.a.61001. Epub 2018 Dec 18. Am J Med Genet A. 2019. PMID: 30561111 Free PMC article.
Mutations in the gene SCAPER (S-phase CyclinA Associated Protein residing in the Endoplasmic Reticulum) have recently been identified as causing syndromic autosomal recessive retinitis pigmentosa with the extraocular manifestations of intellectual disability and attention- …
Mutations in the gene SCAPER (S-phase CyclinA Associated Protein residing in the Endoplasmic Reticulum) have recently been identified …
Bardet-Biedl Syndrome Overview.
Forsyth R, Gunay-Aygun M. Forsyth R, et al. 2003 Jul 14 [updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2003 Jul 14 [updated 2023 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301537 Free Books & Documents. Review.
SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.
Wormser O, Gradstein L, Yogev Y, Perez Y, Kadir R, Goliand I, Sadka Y, El Riati S, Flusser H, Nachmias D, Birk R, Iraqi M, Kadar E, Gat R, Drabkin M, Halperin D, Horev A, Sivan S, Abdu U, Elia N, Birk OS. Wormser O, et al. Eur J Hum Genet. 2019 Jun;27(6):928-940. doi: 10.1038/s41431-019-0347-z. Epub 2019 Feb 5. Eur J Hum Genet. 2019. PMID: 30723319 Free PMC article. Clinical Trial.
Using immuno-fluorescence and live cell imaging in NIH/3T3 fibroblasts and SH-SY5Y neuroblastoma cell lines over-expressing SCAPER, we demonstrate that both wild type and mutant SCAPER are expressed in primary cilia and co-localize with tubulin, forming bundles of m …
Using immuno-fluorescence and live cell imaging in NIH/3T3 fibroblasts and SH-SY5Y neuroblastoma cell lines over-expressing SCAPER, w …
Mechanism of ribosome-associated mRNA degradation during tubulin autoregulation.
Höpfler M, Absmeier E, Peak-Chew SY, Vartholomaiou E, Passmore LA, Gasic I, Hegde RS. Höpfler M, et al. Mol Cell. 2023 Jul 6;83(13):2290-2302.e13. doi: 10.1016/j.molcel.2023.05.020. Epub 2023 Jun 8. Mol Cell. 2023. PMID: 37295431 Free PMC article.
Here, our biochemical and structural analysis reveals that TTC5 recruits the poorly studied protein SCAPER to the ribosome. SCAPER, in turn, engages the CCR4-NOT deadenylase complex through its CNOT11 subunit to trigger tubulin mRNA decay. SCAPER mutants that …
Here, our biochemical and structural analysis reveals that TTC5 recruits the poorly studied protein SCAPER to the ribosome. SCAPER …
Absence of SCAPER causes male infertility in humans and Drosophila by modulating microtubule dynamics during meiosis.
Wormser O, Levy Y, Bakhrat A, Bonaccorsi S, Graziadio L, Gatti M, AbuMadighem A, McKenney RJ, Okada K, El Riati S, Har-Vardi I, Huleihel M, Levitas E, Birk OS, Abdu U. Wormser O, et al. J Med Genet. 2021 Apr;58(4):254-263. doi: 10.1136/jmedgenet-2020-106946. Epub 2020 Jun 11. J Med Genet. 2021. PMID: 32527956 Free PMC article.
RESULTS: We show that patients homozygous for a SCAPER mutation lack SCAPER expression in spermatogonia (SPG) and are azoospermic due to early defects in spermatogenesis, leading to the complete absence of meiotic cells. ...Consistent with these results, an in vitro …
RESULTS: We show that patients homozygous for a SCAPER mutation lack SCAPER expression in spermatogonia (SPG) and are azoosper …
Homozygous variants in the gene SCAPER cause syndromic intellectual disability.
Kahrizi K, Huber M, Galetzka D, Dewi S, Schröder J, Weis E, Kariminejad A, Fattahi Z, Ropers HH, Schweiger S, Najmabadi H, Winter J. Kahrizi K, et al. Am J Med Genet A. 2019 Jul;179(7):1214-1225. doi: 10.1002/ajmg.a.61172. Epub 2019 May 9. Am J Med Genet A. 2019. PMID: 31069901
Here, we expand the spectrum of pathogenic variants in SCAPER and report on 10 further patients from four families with ID, RP, and additional dysmorphic features carrying homozygous variants in SCAPER. ...Analyses of SCAPER expression in human and mouse brai …
Here, we expand the spectrum of pathogenic variants in SCAPER and report on 10 further patients from four families with ID, RP, and a …
Male sterility and reduced female fertility in SCAPER-deficient mice.
Tatour Y, Bar-Joseph H, Shalgi R, Ben-Yosef T. Tatour Y, et al. Hum Mol Genet. 2020 Aug 3;29(13):2240-2249. doi: 10.1093/hmg/ddaa113. Hum Mol Genet. 2020. PMID: 32510560
Because Scaper mutant males are sterile, we set up to characterize their phenotype. The testes of Scaper mutant mice are significantly smaller than those of WT mice. ...
Because Scaper mutant males are sterile, we set up to characterize their phenotype. The testes of Scaper mutant mice are signi …
SCAPER, a novel cyclin A-interacting protein that regulates cell cycle progression.
Tsang WY, Wang L, Chen Z, Sánchez I, Dynlacht BD. Tsang WY, et al. J Cell Biol. 2007 Aug 13;178(4):621-33. doi: 10.1083/jcb.200701166. J Cell Biol. 2007. PMID: 17698606 Free PMC article.
We propose that SCAPER represents a novel cyclin A/Cdk2 regulatory protein that transiently maintains this kinase in the cytoplasm. SCAPER could play a role in distinguishing S phase- from M phase-specific functions of cyclin A/Cdk2....
We propose that SCAPER represents a novel cyclin A/Cdk2 regulatory protein that transiently maintains this kinase in the cytoplasm. …
Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability.
Tatour Y, Sanchez-Navarro I, Chervinsky E, Hakonarson H, Gawi H, Tahsin-Swafiri S, Leibu R, Lopez-Molina MI, Fernandez-Sanz G, Ayuso C, Ben-Yosef T. Tatour Y, et al. J Med Genet. 2017 Sep 18;54(10):698-704. doi: 10.1136/jmedgenet-2017-104632. Epub 2017 Aug 9. J Med Genet. 2017. PMID: 28794130
Reverse transcription (RT)-PCR and immunostaining were used to examine the spatial and temporal expression pattern of SCAPER. RESULTS: In all patients, biallelic SCAPER mutations were observed. ...SCAPER was found to be ubiquitously expressed in a wide range …
Reverse transcription (RT)-PCR and immunostaining were used to examine the spatial and temporal expression pattern of SCAPER. RESULTS …
Delineating the expanding phenotype associated with SCAPER gene mutation.
Fasham J, Arno G, Lin S, Xu M, Carss KJ, Hull S, Lane A, Robson AG, Wenger O, Self JE, Harlalka GV, Salter CG, Schema L, Moss TJ, Cheetham ME, Moore AT, Raymond FL, Chen R, Baple EL, Webster AR, Crosby AH; NIHR Bioresource Rare Diseases Consortium. Fasham J, et al. Am J Med Genet A. 2019 Aug;179(8):1665-1671. doi: 10.1002/ajmg.a.61202. Epub 2019 Jun 13. Am J Med Genet A. 2019. PMID: 31192531 Free PMC article. No abstract available.
25 results