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Human Mutation|May 23, 2025
Genetic Causal Relationship Between Systemic Lupus Erythematosus and Malignant Tumors of the Female Reproductive System: A GWAS Analysis in European PopulationsJianbin Li, Zhuo Tang, Lei Zhang, et al.
Human Mutation|June 9, 2025
M1 Macrophage is a Novel Potential Trigger for Endothelial Senescence: Role of Exosomal miR-155 Targeting SOCS1 SignalJiang He, Bin Zhang, Hufei Zhang, et al.
Human Mutation|February 9, 2026
Buyang Huanwu Decoction Alleviates Chronic Intermittent Hypoxia-Induced Myocardial Inflammation and Fibrosis via the NF-κB/LOX Signaling PathwayLijun Ou, Chenyi Liu, Weicheng Zhao, et al.
Human Mutation|February 2, 2026
Disentangling Links Between Lung Cancer and Infectious Pneumonia via Real-World Data and Integrative GenomicsYi-Fei Diao, Zhe Chen, Yi-Fan Tang, et al.
Human Mutation|January 21, 2026
Albiflorin-Mediated MAP2K1 Targeting and HIF-1 Signaling Inhibition Contribute to the Therapeutic Efficacy in Hyperuricemia-Associated Cognitive ImpairmentHuimin Xiao, Xinwen Huang, Rui Yao, et al.
Human Mutation|April 13, 1999
A de novo missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic long QT sydrome. Mutations in brief no. 140. OnlineH Yamagishi, M Furutani, M Kamisago, et al.
Human Mutation|April 13, 1999
Missense mutation in exon 11 (Codon 378) of the presenilin-1 gene in a French family with early-onset Alzheimer's disease and transmission study by mismatch enhanced allele specific amplification. Mutations in brief no. 141. Online. besancon@rockefeller1.univ.lyon1.frR Besançon, A Lorenzi, M Cruts, et al.
Human Mutation|April 13, 1999
Mutation sharing, predominant involvement of the MLH1 gene and description of four novel mutations in hereditary nonpolyposis colorectal cancer. Mutations in brief no. 144. OnlineM Holmberg, P Kristo, R B Chadwicks, et al.
Human Mutation|April 13, 1999
Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild phenylketonuria. Mutations in brief no. 143. OnlineJ Mallolas, J Campistol, N Lambruschini, et al.
Human Mutation|April 13, 1999
A new informative Alw 26 I polymorphism in exon 10 of the human low density lipoprotein receptor gene. Application to prenatal diagnosis. Mutations in brief no. 145. OnlineM Kottler, J P Lagarde, K Dahan, et al.
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