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Year Number of Results
2019 1
2020 5
2021 17
2022 9
2023 2
2024 0

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27 results

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Page 1
Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis.
Ishigaki K, Sakaue S, Terao C, Luo Y, Sonehara K, Yamaguchi K, Amariuta T, Too CL, Laufer VA, Scott IC, Viatte S, Takahashi M, Ohmura K, Murasawa A, Hashimoto M, Ito H, Hammoudeh M, Emadi SA, Masri BK, Halabi H, Badsha H, Uthman IW, Wu X, Lin L, Li T, Plant D, Barton A, Orozco G, Verstappen SMM, Bowes J, MacGregor AJ, Honda S, Koido M, Tomizuka K, Kamatani Y, Tanaka H, Tanaka E, Suzuki A, Maeda Y, Yamamoto K, Miyawaki S, Xie G, Zhang J, Amos CI, Keystone E, Wolbink G, van der Horst-Bruinsma I, Cui J, Liao KP, Carroll RJ, Lee HS, Bang SY, Siminovitch KA, de Vries N, Alfredsson L, Rantapää-Dahlqvist S, Karlson EW, Bae SC, Kimberly RP, Edberg JC, Mariette X, Huizinga T, Dieudé P, Schneider M, Kerick M, Denny JC; BioBank Japan Project; Matsuda K, Matsuo K, Mimori T, Matsuda F, Fujio K, Tanaka Y, Kumanogoh A, Traylor M, Lewis CM, Eyre S, Xu H, Saxena R, Arayssi T, Kochi Y, Ikari K, Harigai M, Gregersen PK, Yamamoto K, Louis Bridges S Jr, Padyukov L, Martin J, Klareskog L, Okada Y, Raychaudhuri S. Ishigaki K, et al. Nat Genet. 2022 Nov;54(11):1640-1651. doi: 10.1038/s41588-022-01213-w. Epub 2022 Nov 4. Nat Genet. 2022. PMID: 36333501 Free PMC article.
Candidate genes at the novel loci suggest essential roles of the immune system (for example, TNIP2 and TNFRSF11A) and joint tissues (for example, WISP1) in RA etiology. Multi-ancestry fine-mapping identified putatively causal variants with biological insights (for example, …
Candidate genes at the novel loci suggest essential roles of the immune system (for example, TNIP2 and TNFRSF11A) and joint tissues ( …
Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study.
Chia R, Saez-Atienzar S, Murphy N, Chiò A, Blauwendraat C; International Myasthenia Gravis Genomics Consortium; Roda RH, Tienari PJ, Kaminski HJ, Ricciardi R, Guida M, De Rosa A, Petrucci L, Evoli A, Provenzano C, Drachman DB, Traynor BJ. Chia R, et al. Proc Natl Acad Sci U S A. 2022 Feb 1;119(5):e2108672119. doi: 10.1073/pnas.2108672119. Proc Natl Acad Sci U S A. 2022. PMID: 35074870 Free PMC article.
Two other loci were discovered on 10p14 and 11q21, and the previous association signals at PTPN22, HLA-DQA1/HLA-B, and TNFRSF11A were confirmed. Subgroup analyses demonstrate that early- and late-onset cases have different genetic risk factors. ...
Two other loci were discovered on 10p14 and 11q21, and the previous association signals at PTPN22, HLA-DQA1/HLA-B, and TNFRSF11A were …
Osteopetrosis: Gene-based nosology and significance Dysosteosclerosis.
Turan S. Turan S. Bone. 2023 Feb;167:116615. doi: 10.1016/j.bone.2022.116615. Epub 2022 Nov 17. Bone. 2023. PMID: 36402365
Genetic heterogeneity is increasingly reported for the DSS phenotype and now involves mutations of SLC29A3, TNFRSF11A, TCIRG1, LRRK1, and CSF1R. Typical radiological findings are widened radiolucent long bones with thin cortices yet dense irregular metaphyses, flattened ve …
Genetic heterogeneity is increasingly reported for the DSS phenotype and now involves mutations of SLC29A3, TNFRSF11A, TCIRG1, LRRK1, …
Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis.
Xue JY, Simsek-Kiper PO, Utine GE, Yan L, Wang Z, Taskiran EZ, Karaosmanoglu B, Imren G, Gocmen R, Nishimura G, Matsumoto N, Miyake N, Ikegawa S, Guo L. Xue JY, et al. J Hum Genet. 2021 Jun;66(6):607-611. doi: 10.1038/s10038-020-00891-w. Epub 2021 Jan 6. J Hum Genet. 2021. PMID: 33402699
Here, we report another TNFRSF11A-associated DOS case with a homozygous missense mutation (p.R129C). ...Our findings provide the fourth case of TNFRSF11A-associated DOS and further expand its phenotypic spectrum....
Here, we report another TNFRSF11A-associated DOS case with a homozygous missense mutation (p.R129C). ...Our findings provide the four …
TNFRSF11A-Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum.
Xue JY, Wang Z, Shinagawa S, Ohashi H, Otomo N, Elcioglu NH, Nakashima T, Nishimura G, Ikegawa S, Guo L. Xue JY, et al. J Bone Miner Res. 2019 Oct;34(10):1873-1879. doi: 10.1002/jbmr.3805. Epub 2019 Aug 5. J Bone Miner Res. 2019. PMID: 31163101 Free article.
DOS is genetically heterogeneous; however, only five cases with SLC29A3 mutations and a single case with a splice-site mutation of TNFRSF11A have been reported, and TNFRSF11A is also a causal gene for osteopetrosis, autosomal recessive 7 (OP-AR7). ...Thus, we identi …
DOS is genetically heterogeneous; however, only five cases with SLC29A3 mutations and a single case with a splice-site mutation of TNFRSF …
The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins.
Xue JY, Wang Z, Smithson SF, Burren CP, Matsumoto N, Nishimura G, Ikegawa S, Guo L. Xue JY, et al. J Hum Genet. 2021 Apr;66(4):371-377. doi: 10.1038/s10038-020-00831-8. Epub 2020 Oct 9. J Hum Genet. 2021. PMID: 33037392
DOS is genetically heterogeneous. Three causal genes, SLC29A3, CSF1R, and TNFRSF11A are reported. TNFRSF11A-associated DOS has been identified in two patients; however, TNFRSF11A is also a causal gene for osteopetrosis, autosomal recessive 7 (OP-AR7). ...The …
DOS is genetically heterogeneous. Three causal genes, SLC29A3, CSF1R, and TNFRSF11A are reported. TNFRSF11A-associated DOS has …
Myasthenia gravis genome-wide association study implicates AGRN as a risk locus.
Topaloudi A, Zagoriti Z, Flint AC, Martinez MB, Yang Z, Tsetsos F, Christou YP, Lagoumintzis G, Yannaki E, Zamba-Papanicolaou E, Tzartos J, Tsekmekidou X, Kotsa K, Maltezos E, Papanas N, Papazoglou D, Passadakis P, Roumeliotis A, Roumeliotis S, Theodoridis M, Thodis E, Panagoutsos S, Yovos J, Stamatoyannopoulos J, Poulas K, Kleopa K, Tzartos S, Georgitsi M, Paschou P. Topaloudi A, et al. J Med Genet. 2022 Aug;59(8):801-809. doi: 10.1136/jmedgenet-2021-107953. Epub 2021 Aug 16. J Med Genet. 2022. PMID: 34400559
RESULTS: We confirmed the previously reported MG association with TNFRSF11A (rs4369774; p=1.0910(-13), OR=1.4). Furthermore, gene-based analysis revealed AGRN as a novel MG susceptibility gene. ...Our results are also consistent with previous studies highlighting the role …
RESULTS: We confirmed the previously reported MG association with TNFRSF11A (rs4369774; p=1.0910(-13), OR=1.4). Furthermore, gene-bas …
Insertion Mutation in Tnfrsf11a Causes a Paget's Disease-Like Phenotype in Heterozygous Mice and Osteopetrosis in Homozygous Mice.
Alonso N, Wani S, Rose L, Van't Hof RJ, Ralston SH, Albagha OME. Alonso N, et al. J Bone Miner Res. 2021 Jul;36(7):1376-1386. doi: 10.1002/jbmr.4288. Epub 2021 May 6. J Bone Miner Res. 2021. PMID: 33724536 Free article.
Studies in vitro showed that RANK ligand (RANKL)-induced osteoclast formation and signaling was impaired in bone marrow cells from Tnfrsf11a(75dup27/-) animals, but that osteoclast survival was increased independent of RANKL stimulation. Surprisingly, Tnfrsf11a(75du …
Studies in vitro showed that RANK ligand (RANKL)-induced osteoclast formation and signaling was impaired in bone marrow cells from Tnfrsf …
MiR-3150b-3p inhibits the proliferation and invasion of cervical cancer cells by targeting TNFRSF11a.
Yu Z, Wang L, Li X. Yu Z, et al. J Investig Med. 2020 Aug;68(6):1166-1170. doi: 10.1136/jim-2020-001284. Epub 2020 Jul 2. J Investig Med. 2020. PMID: 32616510 Free PMC article.
Real-time PCR and western blot analysis were conducted to test the expression of miR-3150b-3p, TNFRSF11a and p38 mitogen-activated protein kinase (MAPK) signaling pathway. ...Additionally, miR-3150b-3p markedly attenuated the proliferation, migration and invasion of HeLa a …
Real-time PCR and western blot analysis were conducted to test the expression of miR-3150b-3p, TNFRSF11a and p38 mitogen-activated pr …
RNA sequencing reveals dynamic expression of spleen lncRNAs and mRNAs in Beagle dogs infected by Toxocara canis.
Xu Y, Zheng WB, Li HY, Cai L, Zou Y, Xie SC, Zhu XQ, Elsheikha HM. Xu Y, et al. Parasit Vectors. 2022 Aug 4;15(1):279. doi: 10.1186/s13071-022-05380-x. Parasit Vectors. 2022. PMID: 35927758 Free PMC article.
Kyoto Encyclopedia of Genes and Genomes enrichment analysis revealed that some genes (e.g. prkx and tnfrsf11a) were involved in the T cell receptor signaling pathway, calcium signaling pathway, Ras signaling pathway and NF-kappaB signaling pathway. ...
Kyoto Encyclopedia of Genes and Genomes enrichment analysis revealed that some genes (e.g. prkx and tnfrsf11a) were involved in the T …
27 results