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Page 1
Did you mean rapsyn (341 results)?
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, 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, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301347 Free Books & Documents. Review.
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 …
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 …
The association between RAPSN methylation in peripheral blood and breast cancer in the Chinese population.
Lei S, Li L, Yang X, Yin Q, Xu T, Zhou W, Gu W, Ma F, Yang R. Lei S, et al. J Hum Genet. 2021 Nov;66(11):1069-1078. doi: 10.1038/s10038-021-00933-x. Epub 2021 May 6. J Hum Genet. 2021. PMID: 33958711
We investigated the association between blood-based methylation of receptor-associated protein of the synapse (RAPSN) and BC in Chinese population. The methylation levels of 12 RAPSN CpG sites were quantitatively evaluated by mass spectrometry in two case-control st …
We investigated the association between blood-based methylation of receptor-associated protein of the synapse (RAPSN) and BC in Chine …
Membraneless condensates by Rapsn phase separation as a platform for neuromuscular junction formation.
Xing G, Jing H, Yu Z, Chen P, Wang H, Xiong WC, Mei L. Xing G, et al. Neuron. 2021 Jun 16;109(12):1963-1978.e5. doi: 10.1016/j.neuron.2021.04.021. Epub 2021 May 24. Neuron. 2021. PMID: 34033754 Free PMC article.
The capacity of Rapsn to condensate and co-condensate with interaction proteins is compromised by mutations of congenital myasthenic syndromes (CMSs). ...These results reveal a critical role of Rapsn LLPS in forming a synaptic semi-membraneless compartment for NMJ f …
The capacity of Rapsn to condensate and co-condensate with interaction proteins is compromised by mutations of congenital myasthenic …
The Association Between RAPSN Methylation in Peripheral Blood and Early Stage Lung Cancer Detected in Case-Control Cohort.
Qiao R, Di F, Wang J, Wei Y, Zhang Y, Xu T, Wang Y, Gu W, Han B, Yang R. Qiao R, et al. Cancer Manag Res. 2020 Nov 2;12:11063-11075. doi: 10.2147/CMAR.S275321. eCollection 2020. Cancer Manag Res. 2020. PMID: 33173339 Free PMC article.
In general, we observed an association between very early LC and decreased methylation of RAPSN_CpG_1.15 and RAPSN_CpG_3.4 (referring to Q4, OR range from 1.64 to 1.81, p<0.05). Stratified by gender, while hypomethylation of RAPSN_CpG_1.15, RAPSN_Cp …
In general, we observed an association between very early LC and decreased methylation of RAPSN_CpG_1.15 and RAPSN_CpG_3.4 (re …
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane A, Bizzari S, Deepthi A, Sabbagh S, Mansour H, Chouery E, Hmaimess G, Jabbour R, Mehawej C, Alame S, Hani A, Hasbini D, Ghanem I, Koussa S, Al-Ali MT, Obeid M, Talea DB, Lefranc G, Lévy N, Leturcq F, El Hayek S, Delague V, Urtizberea JA. Megarbane A, et al. J Neuromuscul Dis. 2022;9(1):193-210. doi: 10.3233/JND-210652. J Neuromuscul Dis. 2022. PMID: 34602496 Free PMC article.
Clustering acetylcholine receptors in neuromuscular junction by phase-separated Rapsn condensates.
Bai G, Zhang M. Bai G, et al. Neuron. 2021 Jun 16;109(12):1907-1909. doi: 10.1016/j.neuron.2021.05.024. Neuron. 2021. PMID: 34139178 Free article.
In this issue of Neuron, Xing et al. (2021) demonstrate that the multidomain scaffold protein Rapsn can form dense molecular condensates in vitro and in vivo via phase separation. The formation of Rapsn condensates is essential for clustering acetylcholine receptors …
In this issue of Neuron, Xing et al. (2021) demonstrate that the multidomain scaffold protein Rapsn can form dense molecular condensa …
Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations.
Müller JS, Baumeister SK, Rasic VM, Krause S, Todorovic S, Kugler K, Müller-Felber W, Abicht A, Lochmüller H. Müller JS, et al. Neurology. 2006 Oct 10;67(7):1159-64. doi: 10.1212/01.wnl.0000233837.79459.40. Epub 2006 Aug 23. Neurology. 2006. PMID: 16931511 Clinical Trial.
METHODS: The authors analyzed the RAPSN gene for sequence variations and carried out in vitro studies in order to delineate the potential pathogenicity of the three novel RAPSN mutations. ...CONCLUSIONS: Screening for the common mutation RAPSN N88K facilitate …
METHODS: The authors analyzed the RAPSN gene for sequence variations and carried out in vitro studies in order to delineate the poten …
100 results