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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 …
Generation and characterization of an induced pluripotent stem cell line SDQLCHi018-A from a congenital myasthenic syndrome patient carrying compound heterozygote mutations in RAPSN gene.
Zhang H, Zhang H, Ma Y, Lv Y, Gai Z, Liu Y. Zhang H, et al. Stem Cell Res. 2021 Mar;51:102160. doi: 10.1016/j.scr.2021.102160. Epub 2021 Jan 8. Stem Cell Res. 2021. PMID: 33465529 Free article.
Mutations in RAPSN are an important cause of congenital myasthenic syndrome (CMS). In this study, we generated an induced pluripotent stem cell line (iPSC) derived from a 14-day-old male CMS patient carrying compound heterozygote mutations (c.532-2A > G and c.264C > …
Mutations in RAPSN are an important cause of congenital myasthenic syndrome (CMS). In this study, we generated an induced pluripotent …
Clinical and genetic diversity in Iranian individuals with RAPSN-related congenital myasthenic syndrome.
Ghasemi A, Hadei SJ, KamaliZonouzi S, Shahrokhi A, Najmabadi H, Nafissi S. Ghasemi A, et al. Neurogenetics. 2024 Nov 26;26(1):9. doi: 10.1007/s10048-024-00787-3. Neurogenetics. 2024. PMID: 39589458
Congenital myasthenic syndromes (CMSs) are genetic disorders affecting motor function with variable symptoms. RAPSN-related CMS, caused by mutations in the RAPSN gene, leads to muscle weakness. Accurate diagnosis is essential for proper management. This study aims t …
Congenital myasthenic syndromes (CMSs) are genetic disorders affecting motor function with variable symptoms. RAPSN-related CMS, caus …
Targeted degradation of oncogenic BCR-ABL by silencing the gene of NEDD8 E3 ligase RAPSYN.
Sun Y, Wang Y, Liu C, Huang Y, Long Q, Ju C, Zhang C, Chen Y. Sun Y, et al. J Nanobiotechnology. 2024 May 13;22(1):247. doi: 10.1186/s12951-024-02505-5. J Nanobiotechnology. 2024. PMID: 38741123 Free PMC article.
Here, we report the targeted siRNA-based lipid nanoparticles in Ph(+) leukemic cell lines for gene therapy of Ph(+) leukemia, which specifically targets a recently identified NEDD8 E3 ligase RAPSYN in Ph(+) leukemic cells to disrupt the neddylation of oncogenic BCR-ABL. To …
Here, we report the targeted siRNA-based lipid nanoparticles in Ph(+) leukemic cell lines for gene therapy of Ph(+) leukemia, which specific …
Pregnancy outcomes in patients with congenital myasthenic syndromes.
O'Connell K, Rooney T, Alabaf S, Ramdas S, Beeson D, Palace J. O'Connell K, et al. Muscle Nerve. 2022 Sep;66(3):345-348. doi: 10.1002/mus.27653. Epub 2022 Jun 24. Muscle Nerve. 2022. PMID: 35661384
RESULTS: Among 16 women with CMS (acetylcholine receptor deficiency [CHRNE], slow channel syndrome [CHRNA1], DOK7, RAPSYN and glycosylation [DPAGT1 and GFPT1]), 27 pregnancies were recorded: 26 single pregnancies and 1 twin pregnancy. ...
RESULTS: Among 16 women with CMS (acetylcholine receptor deficiency [CHRNE], slow channel syndrome [CHRNA1], DOK7, RAPSYN and glycosy …
Genetic basis of lacunar stroke: a pooled analysis of individual patient data and genome-wide association studies.
Traylor M, Persyn E, Tomppo L, Klasson S, Abedi V, Bakker MK, Torres N, Li L, Bell S, Rutten-Jacobs L, Tozer DJ, Griessenauer CJ, Zhang Y, Pedersen A, Sharma P, Jimenez-Conde J, Rundek T, Grewal RP, Lindgren A, Meschia JF, Salomaa V, Havulinna A, Kourkoulis C, Crawford K, Marini S, Mitchell BD, Kittner SJ, Rosand J, Dichgans M, Jern C, Strbian D, Fernandez-Cadenas I, Zand R, Ruigrok Y, Rost N, Lemmens R, Rothwell PM, Anderson CD, Wardlaw J, Lewis CM, Markus HS; Helsinki Stroke, Study Dutch Parelsnoer Institute-Cerebrovascular Accident (CVA) Study Group; National Institute of Neurological Disorders and Stroke (NINDS) Stroke Genetics Network; UK DNA Lacunar Stroke Study Investigators; International Stroke Genetics Consortium. Traylor M, et al. Lancet Neurol. 2021 May;20(5):351-361. doi: 10.1016/S1474-4422(21)00031-4. Epub 2021 Mar 25. Lancet Neurol. 2021. PMID: 33773637 Free PMC article.
Five loci (ICA1L-WDR12-CARF-NBEAL1, ULK4, SPI1-SLC39A13-PSMC3-RAPSN, ZCCHC14, ZBTB14-EPB41L3) were found to be associated with lacunar stroke in the European or transethnic meta-analyses. ...
Five loci (ICA1L-WDR12-CARF-NBEAL1, ULK4, SPI1-SLC39A13-PSMC3-RAPSN, ZCCHC14, ZBTB14-EPB41L3) were found to be associated with lacuna …
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 …
Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.
Turgut GT, Altunoglu U, Gulec C, Sarac Sivrikoz T, Kalaycı T, Toksoy G, Avcı Ş, Yıldırım BT, Sayın GY, Kalelioglu IH, Karaman B, Has R, Başaran S, Yuksel A, Kayserili H, Uyguner ZO. Turgut GT, et al. Clin Genet. 2024 Jun;105(6):596-610. doi: 10.1111/cge.14490. Epub 2024 Jan 26. Clin Genet. 2024. PMID: 38278647
By exome sequencing and targeted testing, we identified causative variants in ACTC1, CHST14, COG6, DMPK, DOK7, HSPG2, KLHL7, KLHL40, KIAA1109, NEB, PSAT1, RAPSN, USP14, and WASHC5 in 15 families, and one patient with a plausible diagnosis associated with biallelic NEB vari …
By exome sequencing and targeted testing, we identified causative variants in ACTC1, CHST14, COG6, DMPK, DOK7, HSPG2, KLHL7, KLHL40, KIAA110 …
Delineation of molecular characteristics of congenital myasthenic syndromes in Indian families and review of literature.
Mishra S, Nair KV, Shukla A. Mishra S, et al. Clin Dysmorphol. 2023 Oct 1;32(4):162-167. doi: 10.1097/MCD.0000000000000465. Epub 2023 Jun 19. Clin Dysmorphol. 2023. PMID: 37646703 Review.
Clinically significant variants were identified in four CMS disease-causing genes: COLQ (3/7), CHRNE (2/7), DOK7 (1/7), and RAPSN (1/7). We identified two novel variants, c.930_933delCATG in DOK7 and c.1016_1032 + 2dup in CHRNE . ...Patients with COLQ variants had generali …
Clinically significant variants were identified in four CMS disease-causing genes: COLQ (3/7), CHRNE (2/7), DOK7 (1/7), and RAPSN (1/ …
Preimplantation genetic testing as a means of preventing hereditary congenital myasthenic syndrome caused by RAPSN.
Zhang Z, Zhang X, Xue H, Chu L, Hu L, Bi X, Zhu P, Zhang D, Chen J, Cui X, Kong L, Liang B, Wu X. Zhang Z, et al. Mol Genet Genomic Med. 2024 Mar;12(3):e2409. doi: 10.1002/mgg3.2409. Mol Genet Genomic Med. 2024. PMID: 38511267 Free PMC article.
BACKGROUND: Congenital myasthenic syndrome is a heterogeneous group of inherited neuromuscular transmission disorders. Variants in RAPSN are a common cause of CMS, accounting for approximately 14%-27% of all CMS cases. ...By broadening the known variant spectrum of RAPS …
BACKGROUND: Congenital myasthenic syndrome is a heterogeneous group of inherited neuromuscular transmission disorders. Variants in RAPSN …
26 results