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2020 5
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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 …
A Homozygous Mutation in 5' Untranslated Region of TNFRSF11A Leading to Molecular Diagnosis of Osteopetrosis Coinheritance With Wiskott-Aldrich Syndrome.
Chen T, Sun J, Liu G, Yin C, Liu H, Qu L, Fang S, Shifra A, Gilad G. Chen T, et al. J Pediatr Hematol Oncol. 2021 Mar 1;43(2):e264-e267. doi: 10.1097/MPH.0000000000001760. J Pediatr Hematol Oncol. 2021. PMID: 32097281 Free PMC article.
Gene sequencing demonstrated a de novo homozygous mutation in 5'-untranslated region of TNFRSF11A, c.-45A>G, which is relating to osteopetrosis. Meanwhile, a hemizygous transition mutation in WAS gene, c.400G>A diagnosed the infant with WAS. ...
Gene sequencing demonstrated a de novo homozygous mutation in 5'-untranslated region of TNFRSF11A, c.-45A>G, which is relating to …
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, …
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 …
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
DOS is genetically heterogeneous and causally associated with mutations in three genes, SLC29A3, CSF1R, and TNFRSF11A. TNFRSF11A has been known as the causal gene for osteopetrosis, autosomal recessive 7, and is recently reported to cause DOS in three cases, which s …
DOS is genetically heterogeneous and causally associated with mutations in three genes, SLC29A3, CSF1R, and TNFRSF11A. TNFRSF11A …
Comprehensive Analysis and In Vitro Verification of Endothelial-Mesenchymal Transition-Related Genes in Moyamoya Disease.
Li J, He Q, Zheng Z, Liu C, Zhang B, Mou S, Zeng C, Sun W, Liu W, Ge P, Zhang D, Zhao J. Li J, et al. Mol Neurobiol. 2025 Feb;62(2):2515-2529. doi: 10.1007/s12035-024-04423-x. Epub 2024 Aug 12. Mol Neurobiol. 2025. PMID: 39134827
Four ERGs emerged as the final hub MMD-related ERGs after validation in the testing set, including CCL21, CEBPA, KRT18, and TNFRSF11A. The nomogram model exhibited excellent discrimination ability. In vitro experiments showed that CCL21, CEBPA, KRT18, and TNFRSF11A …
Four ERGs emerged as the final hub MMD-related ERGs after validation in the testing set, including CCL21, CEBPA, KRT18, and TNFRSF11A …
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. Retraction in: J Investig Med. 2025 Apr 14:10815589251332430. doi: 10.1177/10815589251332430. PMID: 32616510 Free PMC article. Retracted.
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. The interaction between miR-3150b-3p and TNFRSF11a was verified by luciferase assay. ...Additi …
Real-time PCR and western blot analysis were conducted to test the expression of miR-3150b-3p, TNFRSF11a and p38 mitogen-activated pr …
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
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 mutations in all three cases thus …
Three causal genes, SLC29A3, CSF1R, and TNFRSF11A are reported. TNFRSF11A-associated DOS has been identified in two patients; …
Development of a prognostic signature of patients with esophagus adenocarcinoma by using immune-related genes.
Zhang X, Yang L, Kong M, Ma J, Wei Y. Zhang X, et al. BMC Bioinformatics. 2021 Nov 1;22(1):536. doi: 10.1186/s12859-021-04456-2. BMC Bioinformatics. 2021. PMID: 34724890 Free PMC article.
RESULTS: The prediction signature with 12 IRGs (ADRM1, CXCL1, SEMG1, CCL26, CCL24, AREG, IL23A, UCN2, FGFR4, IL17RB, TNFRSF11A, and TNFRSF21) was constructed. Overall survival (OS) curves indicate that the survival rate of the high-risk group is significantly shorter than …
RESULTS: The prediction signature with 12 IRGs (ADRM1, CXCL1, SEMG1, CCL26, CCL24, AREG, IL23A, UCN2, FGFR4, IL17RB, TNFRSF11A, and T …
30 results