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2015 3
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Page 1
Association between plasma proteome and childhood neurodevelopmental disorders: A two-sample Mendelian randomization analysis.
Yang J, He X, Qian L, Zhao B, Fan Y, Gao F, Yan B, Zhu F, Ma X. Yang J, et al. EBioMedicine. 2022 Apr;78:103948. doi: 10.1016/j.ebiom.2022.103948. Epub 2022 Mar 17. EBioMedicine. 2022. PMID: 35306338 Free PMC article.
FINDINGS: Using single-nucleotide polymorphisms as instruments, the study suggested increased levels of MAPKAPK3 (OR: 1.09; 95% CI: 1.05-1.13; P = 1.43 10(-6)) and MRPL33 (OR: 1.07; 95% CI: 1.04-1.11; P = 5.37 10(-6)) were causally associated with a higher risk of ASD, and increa …
FINDINGS: Using single-nucleotide polymorphisms as instruments, the study suggested increased levels of MAPKAPK3 (OR: 1.09; 95% CI: 1.05-1.1 …
Genetic-Variation-Driven Gene-Expression Changes Highlight Genes with Important Functions for Kidney Disease.
Ko YA, Yi H, Qiu C, Huang S, Park J, Ledo N, Köttgen A, Li H, Rader DJ, Pack MA, Brown CD, Susztak K. Ko YA, et al. Am J Hum Genet. 2017 Jun 1;100(6):940-953. doi: 10.1016/j.ajhg.2017.05.004. Am J Hum Genet. 2017. PMID: 28575649 Free PMC article.
With respect to one of the target genes, lysosomal beta A mannosidase (MANBA), we observed that genetic variants associated with MANBA expression in the kidney showed statistically significant colocalization with variants identified in CKD GWASs, indicating that …
With respect to one of the target genes, lysosomal beta A mannosidase (MANBA), we observed that genetic variants associated with M …
Novel Drug Targets for Atrial Fibrillation Identified Through Mendelian Randomization Analysis of the Blood Proteome.
Ning Z, Huang Y, Lu H, Zhou Y, Tu T, Ouyang F, Liu Y, Liu Q. Ning Z, et al. Cardiovasc Drugs Ther. 2024 Dec;38(6):1215-1222. doi: 10.1007/s10557-023-07467-8. Epub 2023 May 22. Cardiovasc Drugs Ther. 2024. PMID: 37212950
Genetically predicted 12 proteins increased AF risk (TES, CFL2, MTHFD1, RAB1A, DUSP13, SRL, ANXA4, NEO1, FKBP7, SPON1, LPA, MANBA); 18 proteins decreased AF risk (PMVK, UBE2F, SYT11, CHMP3, PFKM, FBP1, TNFSF12, CTSZ, QSOX2, ALAD, EFEMP1, FLRT2, LRIG1, OLA1, SH3BGRL3, IL6R, …
Genetically predicted 12 proteins increased AF risk (TES, CFL2, MTHFD1, RAB1A, DUSP13, SRL, ANXA4, NEO1, FKBP7, SPON1, LPA, MANBA); 1 …
Identifying novel proteins for migraine by integrating proteomes from blood and CSF with genome-wide association data.
Niu PP, Zhang R, Zhang C, Li S, Li YS. Niu PP, et al. CNS Neurosci Ther. 2024 Jun;30(6):e14817. doi: 10.1111/cns.14817. CNS Neurosci Ther. 2024. PMID: 38898596 Free PMC article.
We also identified another four proteins (PLCG1, ARHGAP25, CHGA, and MANBA) with no potential adverse consequences when modulating the plasma levels, and their genes were not reported by previous genetic studies. ...
We also identified another four proteins (PLCG1, ARHGAP25, CHGA, and MANBA) with no potential adverse consequences when modulating th …
Impact of Multiple Sclerosis Risk Polymorphism rs7665090 on MANBA Activity, Lysosomal Endocytosis, and Lymphocyte Activation.
González-Jiménez A, López-Cotarelo P, Agudo-Jiménez T, Casanova I, Silanes CL, Martín-Requero Á, Matesanz F, Urcelay E, Espino-Paisán L. González-Jiménez A, et al. Int J Mol Sci. 2022 Jul 23;23(15):8116. doi: 10.3390/ijms23158116. Int J Mol Sci. 2022. PMID: 35897697 Free PMC article.
Deficiencies in Mannosidase beta (MANBA) are associated with neurological abnormalities and recurrent infections. The single nucleotide polymorphism located in the 3'UTR of MANBA, rs7665090, was found to be associated with multiple sclerosis (MS) susceptibility. ... …
Deficiencies in Mannosidase beta (MANBA) are associated with neurological abnormalities and recurrent infections. The single nucleoti …
A novel genetic variant potentially altering the expression of MANBA in the cerebellum associated with attention deficit hyperactivity disorder in Han Chinese children.
Chen X, Yao T, Cai J, Zhang Q, Li S, Li H, Fu X, Wu J. Chen X, et al. World J Biol Psychiatry. 2022 Sep;23(7):548-559. doi: 10.1080/15622975.2021.2014248. Epub 2022 Jan 13. World J Biol Psychiatry. 2022. PMID: 34870556
The dual luciferase reporter gene assay revealed that the mutation of rs1054037(C > T) potentially upregulated MANBA expression by eliminating the binding site for hsa-miR-5591-3P. Finally, RT-qPCR showed that MANBA expression in blood samples of patients was sig …
The dual luciferase reporter gene assay revealed that the mutation of rs1054037(C > T) potentially upregulated MANBA expression by …
NFKB1 and MANBA Confer Disease Susceptibility to Primary Biliary Cholangitis via Independent Putative Primary Functional Variants.
Hitomi Y, Nakatani K, Kojima K, Nishida N, Kawai Y, Kawashima M, Aiba Y, Nagasaki M, Nakamura M, Tokunaga K. Hitomi Y, et al. Cell Mol Gastroenterol Hepatol. 2019;7(3):515-532. doi: 10.1016/j.jcmgh.2018.11.006. Epub 2018 Dec 4. Cell Mol Gastroenterol Hepatol. 2019. PMID: 30528300 Free PMC article.
We recently identified several susceptibility genes included NFKB1 and MANBA for PBC in the Japanese population by genome-wide association study. However, the primary functional variants in the NFKB1/MANBA region and the molecular mechanism for conferring disease su …
We recently identified several susceptibility genes included NFKB1 and MANBA for PBC in the Japanese population by genome-wide associ …
Lysosomal storage disease in the brain: mutations of the β-mannosidase gene identified in autosomal dominant nystagmus.
Yu P, Cui Y, Cai W, Wu H, Xiao X, Shao Q, Ma L, Guo S, Wu N, Jin ZB, Wang Y, Cai T, Sun ZS, Qu J. Yu P, et al. Genet Med. 2015 Dec;17(12):971-9. doi: 10.1038/gim.2015.10. Epub 2015 Mar 5. Genet Med. 2015. PMID: 25741867 Free article.
An additional mutation (c.2346T>A; p.L749H) in MANBA was found by screening patients with sporadic nystagmus. MANBA was expressed in the pretectal nucleus of the developing midbrain, known to be involved in oculomotor and optokinetic nystagmus. ...CONCLUSION: Thi …
An additional mutation (c.2346T>A; p.L749H) in MANBA was found by screening patients with sporadic nystagmus. MANBA was exp …
MRPL13 is a metastatic and prognostic marker of breast cancer: A silico analysis accompanied with experimental validation.
Dai P, Chen Y, Zhang X, Liu L, Cheng Z. Dai P, et al. Gene. 2025 Jan 10;932:148908. doi: 10.1016/j.gene.2024.148908. Epub 2024 Aug 30. Gene. 2025. PMID: 39218414
Ten hub genes (namely MRPL13, CTR9, TCEB1, RPLP0, TIMM8B, METTL1, GOLT1B, PLK2, PARL and MANBA) were identified and confirmed. MRPL13, TCEB1 and GOLT1B were shown to be associated with the worse overall survival (OS) and were optionally chosen for further verification by w …
Ten hub genes (namely MRPL13, CTR9, TCEB1, RPLP0, TIMM8B, METTL1, GOLT1B, PLK2, PARL and MANBA) were identified and confirmed. MRPL13 …
Multitrait genome-wide analyses identify new susceptibility loci and candidate drugs to primary sclerosing cholangitis.
Han Y, Byun J, Zhu C, Sun R, Roh JY, Cordell HJ, Lee HS, Shaw VR, Kang SW, Razjouyan J, Cooley MA, Hassan MM, Siminovitch KA, Folseraas T, Ellinghaus D, Bergquist A, Rushbrook SM, Franke A, Karlsen TH, Lazaridis KN; International PSC Study Group; McGlynn KA, Roberts LR, Amos CI. Han Y, et al. Nat Commun. 2023 Feb 24;14(1):1069. doi: 10.1038/s41467-023-36678-8. Nat Commun. 2023. PMID: 36828809 Free PMC article.
Functional annotation and fine-mapping nominated several potential susceptibility genes such as MANBA and IRF5. Network-based in silico drug efficacy screening provided candidate agents for further study of pharmacological effect in PSC....
Functional annotation and fine-mapping nominated several potential susceptibility genes such as MANBA and IRF5. Network-based in sili …
28 results