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Mutation

Characterization of somatic mutations in sporadic uveal melanoma and uveal melanoma in patients with germline BAP1 pathogenic variants

Karin A. W. Wadt, Katja Harbst, Mette M. B. Sjøl, Frida Rosengren, Christina Westmose Yde, Kristoffer Staal Rohrberg, Marlene Richter Jensen, Steffen Heegaard, Jens Folke Kiilgaard, Anne-Marie Gerdes, Nicholas Hayward, Göran B. Jönsson

published 08 Oct 2024

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Genotype-phenotype correlation of ocular von Hippel-Lindau disease in Koreans

Sungsoon Hwang, Se Woong Kang, Jong-Won Kim, Sang Jin Kim

published 07 Oct 2024

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A new amino acid substitution in the MvALS1 gene of metsulfuron-methyl resistant biotypes Monochoria vaginalis (Burm. f.) C. Presl from West Java, Indonesia

Kansa Dianti Putri, Dwi Guntoro, Sintho Wahyuning Ardie, Hariyadi

published 04 Oct 2024

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Phenotypic and genotypic analysis of drug resistance in M. tuberculosis isolates in Gansu, China

Yousheng Peng, Chenchen Li, Xueke Hui, Xiaoning Huo, Nigus Abebe Shumuyed, Zhong Jia

published 27 Sep 2024

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Signal-sensing triggers the shutdown of HemKR, regulating heme and iron metabolism in the spirochete Leptospira biflexa

Juan Andrés Imelio, Felipe Trajtenberg, Sonia Mondino, Leticia Zarantonelli, Iakov Vitrenko, Laure Lemée, Thomas Cokelaer, Mathieu Picardeau, Alejandro Buschiazzo

published 26 Sep 2024

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CBL mutations in chronic myelomonocytic leukemia often occur in the RING domain with multiple subclones per patient: Implications for targeting

Kelly Lim, Winnie L. Kan, Pramod C. Nair, Monika Kutyna, Angel F. Lopez, Timothy Hercus, David M. Ross, Steven Lane, Chun Yew Fong, Anna Brown, Agnes Yong, David Yeung, Timothy Hughes, Devendra Hiwase, Daniel Thomas

published 19 Sep 2024

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Systematic analysis of SARS-CoV-2 Omicron subvariants’ impact on B and T cell epitopes

Ruba Al Khalaf, Anna Bernasconi, Pietro Pinoli

published 19 Sep 2024

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Biochemical reconstitution of heat-induced mutational processes

Tomohiko Sugiyama

published 17 Sep 2024

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A comprehensive in silico investigation into the pathogenic SNPs in the RTEL1 gene and their biological consequences

Rifah Rownak Tanshee, Zimam Mahmud, A. H. M. Nurun Nabi, Mohammad Sayem

published 06 Sep 2024

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Structural and biochemical investigation into stable FGF2 mutants with novel mutation sites and hydrophobic replacements for surface-exposed cysteines

Young Jun An, Ye-Eun Jung, Kyeong Won Lee, Prashant Kaushal, In Young Ko, Seung Min Shin, Sangho Ji, Wookyung Yu, Cheolju Lee, Won-Kyu Lee, Kiweon Cha, Jung-Hyun Lee, Sun-Shin Cha, Hyung-Soon Yim

published 05 Sep 2024

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Comparative genomic landscape of lower-grade glioma and glioblastoma

Xinxin Sun, Qingbin Jia, Kun Li, Conghui Tian, Lili Yi, Lili Yan, Juan Zheng, Xiaodong Jia, Mingliang Gu

published 29 Aug 2024

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Acquired resistance of Stenotrophomonas maltophilia to antimicrobials induced by herbicide paraquat dichloride

Veerakit Vanitshavit, Nisanart Charoenlap, Ratiboot Sallabhan, Wirongrong Whangsuk, Kisana Bhinija, Punyawee Dulyayangkul, Skorn Mongkolsuk, Paiboon Vattanaviboon

published 28 Aug 2024

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Identification of breast cancer-associated PIK3CA H1047R mutation in blood circulation using an asymmetric PCR assay

Dinh Thi Thao, Nguyen Phu Thanh, Dong Van Quyen, Ly Tuan Khai, Le Huu Song, Ngo Tat Trung

published 28 Aug 2024

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