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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
1994 1
1996 1
1999 1
2003 1
2004 6
2005 3
2006 2
2007 2
2008 1
2009 1
2010 2
2011 9
2012 10
2013 7
2014 4
2015 10
2016 12
2017 13
2018 11
2019 9
2020 8
2021 19
2022 17
2023 11
2024 3

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146 results

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Page 1
GFPT1 promotes the proliferation of cervical cancer via regulating the ubiquitination and degradation of PTEN.
Li D, Guan M, Cao X, Zha ZQ, Zhang P, Xiang H, Zhou Y, Peng Q, Xu Z, Lu L, Liu G. Li D, et al. Carcinogenesis. 2022 Nov 23;43(10):969-979. doi: 10.1093/carcin/bgac073. Carcinogenesis. 2022. PMID: 36040914
And overexpression of GFPT1 promoted cell proliferation. PTEN was up-regulated in GFPT1 knockdown cells and downregulated in GFPT1 overexpression cells. Immunofluorescence and co-immunoprecipitation results showed that GFPT1 was co-localized and intera …
And overexpression of GFPT1 promoted cell proliferation. PTEN was up-regulated in GFPT1 knockdown cells and downregulated in …
Splicing regulation of GFPT1 muscle-specific isoform and its roles in glucose metabolisms and neuromuscular junction.
Farshadyeganeh P, Nazim M, Zhang R, Ohkawara B, Nakajima K, Rahman MA, Nasrin F, Ito M, Takeda JI, Ohe K, Miyasaka Y, Ohno T, Masuda A, Ohno K. Farshadyeganeh P, et al. iScience. 2023 Aug 26;26(10):107746. doi: 10.1016/j.isci.2023.107746. eCollection 2023 Oct 20. iScience. 2023. PMID: 37744035 Free PMC article.
A 54-bp exon 9 of GFPT1 is specifically included in skeletal and cardiac muscles to generate a long isoform of GFPT1 (GFPT1-L). We showed that SRSF1 and Rbfox1/2 cooperatively enhance, and hnRNP H/F suppresses, the inclusion of human GFPT1 exon 9 by mo …
A 54-bp exon 9 of GFPT1 is specifically included in skeletal and cardiac muscles to generate a long isoform of GFPT1 (GFPT1 …
Congenital Myasthenic Syndromes Overview.
Abicht A, Müller JS, Lochmüller H. Abicht A, et al. 2003 May 9 [updated 2021 Dec 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 May 9 [updated 2021 Dec 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: 20301347 Free Books & Documents. Review.
High GFPT1 expression predicts unfavorable outcomes in patients with resectable pancreatic ductal adenocarcinoma.
Gong Y, Qian Y, Luo G, Liu Y, Wang R, Deng S, Cheng H, Jin K, Ni Q, Yu X, Wu W, Liu C. Gong Y, et al. World J Surg Oncol. 2021 Jan 31;19(1):35. doi: 10.1186/s12957-021-02147-z. World J Surg Oncol. 2021. PMID: 33517899 Free PMC article.
Therefore, we investigated the prognostic significance of GFPT1 expression in patients with resectable PDAC. METHODS: We analyzed public datasets to compare GFPT1 expression in tumor tissues and normal/adjacent pancreatic tissues. ...Survival was compared between hi …
Therefore, we investigated the prognostic significance of GFPT1 expression in patients with resectable PDAC. METHODS: We analyzed pub …
GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice.
Issop Y, Hathazi D, Khan MM, Rudolf R, Weis J, Spendiff S, Slater CR, Roos A, Lochmüller H. Issop Y, et al. Hum Mol Genet. 2018 Sep 15;27(18):3218-3232. doi: 10.1093/hmg/ddy225. Hum Mol Genet. 2018. PMID: 29905857 Free PMC article.
The precise pathomechanisms at the neuromuscular junction (NMJ) owing to a deficiency in GFPT1 is yet to be discovered. One of the challenges we face is the viability of Gfpt1-/- knockout mice. In this study, we use Cre/LoxP technology to generate a muscle-specific …
The precise pathomechanisms at the neuromuscular junction (NMJ) owing to a deficiency in GFPT1 is yet to be discovered. One of the ch …
Congenital myasthenic syndromes.
Finsterer J. Finsterer J. Orphanet J Rare Dis. 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. Orphanet J Rare Dis. 2019. PMID: 30808424 Free PMC article.
The most common causative genes are CHAT, COLQ, RAPSN, CHRNE, DOK7, and GFPT1. Phenotypically, these mutations manifest as abnormal fatigability or permanent or fluctuating weakness of extra-ocular, facial, bulbar, axial, respiratory, or limb muscles, hypotonia, or develop …
The most common causative genes are CHAT, COLQ, RAPSN, CHRNE, DOK7, and GFPT1. Phenotypically, these mutations manifest as abnormal f …
GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease - Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing.
Mensch A, Cordts I, Scholle L, Joshi PR, Kleeberg K, Emmer A, Beck-Woedl S, Park J, Haack TB, Stoltenburg-Didinger G, Zierz S, Deschauer M. Mensch A, et al. J Neuromuscul Dis. 2022;9(4):533-541. doi: 10.3233/JND-220822. J Neuromuscul Dis. 2022. PMID: 35694932
GFPT1-related congenital myasthenic syndrome (CMS) is characterized by progressive limb girdle weakness, and less prominent involvement of facial, bulbar, or respiratory muscles. While tubular aggregates in muscle biopsy are considered highly indicative in GFPT1-ass …
GFPT1-related congenital myasthenic syndrome (CMS) is characterized by progressive limb girdle weakness, and less prominent involveme …
Endogenous glutamate determines ferroptosis sensitivity via ADCY10-dependent YAP suppression in lung adenocarcinoma.
Zhang X, Yu K, Ma L, Qian Z, Tian X, Miao Y, Niu Y, Xu X, Guo S, Yang Y, Wang Z, Xue X, Gu C, Fang W, Sun J, Yu Y, Wang J. Zhang X, et al. Theranostics. 2021 Mar 24;11(12):5650-5674. doi: 10.7150/thno.55482. eCollection 2021. Theranostics. 2021. PMID: 33897873 Free PMC article.
YAP O-GlcNAcylation and expression cannot be sustained in LUAD cells upon impairment of GFPT1. Thus, Hippo pathway-like phosphorylation and ubiquitination of YAP are enhanced. ADCY10 acts as a key downstream target and diversifies the effects of glutamate on the PKA-depend …
YAP O-GlcNAcylation and expression cannot be sustained in LUAD cells upon impairment of GFPT1. Thus, Hippo pathway-like phosphorylati …
Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes-A Comprehensive Review.
Ohno K, Ohkawara B, Shen XM, Selcen D, Engel AG. Ohno K, et al. Int J Mol Sci. 2023 Feb 13;24(4):3730. doi: 10.3390/ijms24043730. Int J Mol Sci. 2023. PMID: 36835142 Free PMC article. Review.
A total of 35 genes have been reported in CMS (AGRN, ALG14, ALG2, CHAT, CHD8, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LAMA5, LAMB2, LRP4, MUSK, MYO9A, PLEC, PREPL, PURA, RAPSN, RPH3A, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT2, TO …
A total of 35 genes have been reported in CMS (AGRN, ALG14, ALG2, CHAT, CHD8, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAG …
146 results