Pleiotropic effects of a recessive Col1a2 mutation occurring in a mouse model of severe osteogenesis imperfecta. by Michelangelo Corcelli, Rachel Sagar, Ellen Petzendorfer, Mohammad Mehedi Hasan, Fleur S van Dijk, Anna L David, Pascale V Guillot

“…We showed that in OIM, the Col1a2 mutation results in a multifactorial inhibition of the osteogenic differentiation and maturation as well as inhibition of osteoclastogenesis. …”
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Wild-type bone marrow cells repopulate tissue resident macrophages and reverse the impacts of homozygous CSF1R mutation. by Dylan Carter-Cusack, Stephen Huang, Sahar Keshvari, Omkar Patkar, Anuj Sehgal, Rachel Allavena, Robert A J Byrne, B Paul Morgan, Stephen J Bush, Kim M Summers, Katharine M Irvine, David A Hume

“…The absence of macrophages in rats with a homozygous mutation in the colony-stimulating factor 1 receptor (Csf1r) gene (Csf1rko) severely compromises pre-weaning somatic growth and maturation of organ function. …”
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HIV-1 resistance mutations and genetic diversity among children failing antiretroviral treatment in five healthcare facilities in Benin, West Africa. by Edwige Hermione Dagba Gbessin, Edmond Tchiakpe, René Kpemahouton Keke, Nicole Vidal, Michel Kiréopori Gomgnimbou, Haziz Sina, Euloge Senan Adjou, Aldric Afangnihoun, Moussa Bachabi, Akadiri Yessoufou, Abdoul-Salam Ouedraogo, Lamine Baba-Moussa

“…<h4>Background</h4>Antiretroviral treatment increases the risk of accumulation of resistance mutations that negatively impact the possibilities of future treatment. …”
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Solid Predominant Histology and High Podoplanin Expression in Cancer-Associated Fibroblast Predict Primary Resistance to Osimertinib in EGFR-Mutated Lung Adenocarcinoma by Yuji Uehara, MD, Hiroki Izumi, MD, PhD, Tetsuro Taki, MD, PhD, Tetsuya Sakai, MD, PhD, Hibiki Udagawa, MD, PhD, Eri Sugiyama, MD, PhD, Shigeki Umemura, MD, PhD, Yoshitaka Zenke, MD, PhD, Shingo Matsumoto, MD, PhD, Kiyotaka Yoh, MD, PhD, Shoko Kubota, MD, PhD, Keiju Aokage, MD, PhD, Naoya Sakamoto, MD, PhD, Shingo Sakashita, MD, PhD, Motohiro Kojima, MD, PhD, Michiko Nagamine, MD, PhD, Yukio Hosomi, MD, PhD, Masahiro Tsuboi, MD, PhD, Koichi Goto, MD, PhD, Genichiro Ishii, MD, PhD

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Case report: a rare case of hereditary colorectal cancer and brain tumor with café au lait spots in a child: constitutional mismatch repair deficiency (CMMRD) syndrome by Zubair Khurshid, Mishraz Shaikh, Tarek Talaat Harb Elkadi

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Gender and melanoma subtype‐based prognostic implications of MUC16 and TTN co‐occurrent mutations in melanoma: A retrospective multi‐study analysis by Nilesh Kodali, Simona Alomary, Abhijit Bhattaru, Ahmed Eldaboush, Robert A. Schwartz, Shari R. Lipner

“…For MUP patients, only MUC16 mutations correlated with worse prognosis. ALM patients with neither MUC16 nor TTN mutations had significantly more total mutations than MUP patients, followed by CM patients. …”
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OsHMA3 overexpression works more efficiently in generating low-Cd rice grain than OsNramp5 knockout mutation by Yuejing Gui, Joanne Teo, Dongsheng Tian, Raji Mohan, Zhongchao Yin

“…In this study, we compared the efficiency of OsNramp5 knockout mutation and OsHMA3 overexpression in reducing Cd content in rice grain. …”
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Sex and outcomes of patients with microsatellite instability-high and BRAF V600E mutated metastatic colorectal cancer receiving immune checkpoint inhibitors by Michael Hoffmeister, Hermann Brenner, Chiara Cremolini, Sara Lonardi, Filippo Pietrantonio, Julien Taieb, David Tougeron, Robyn L Ward, Marco Vitellaro, Thierry André, Pierre Laurent-Puig, Jitendra Jonnagaddala, Francesca Bergamo, Raghav Sundar, Claire Gallois, Michael J Overman, Jakob Nikolas Kather, Lisa Salvatore, Romain Cohen, Rossana Intini, Priya Jayachandran, Miriam Koopman, Javier Ros, Marwan Fakih, Vincenzo Nasca, Giacomo Mazzoli, Jeanine M L Roodhart, Filippo Ghelardi, Elena Elez, Durgesh Wankhede, Marta Ligero, Joseph Zhao, Koen Zwart, Jeroen Derksen, Nicholas Hawkins, Javier Carmona

“…Exploratory transcriptomic analyses suggest that tumors of males with BRAF mutated MSI-H metastatic CRC are characterized by an enrichment of androgen receptor signature and an immune-depleted microenvironment, with a reduction in memory B cells, activated natural killer cells, and activated myeloid dendritic cells.Conclusions Overall, our findings suggest a complex interplay between sex and BRAF mutational status that may modulate the activity of ICIs in patients with MSI-H mCRC and pave the way to novel tailored strategies.…”
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Case report: Personalized management of treatment resistance in advanced NSCLC patients with mutated epidermal growth factor receptor: special examples and literature review by Jun Wang, Jun Wang, Xiaojing Li, Shuang Dong, Sheng Hu, Fengming Ran, Yu Qian

“…The first subclass involves the acquisition of target mutations that lead to changes in the kinase domain, thereby hindering drug binding. …”
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Prognosis conferred by molecular features of appendix-derived Pseudomyxoma Peritonei by Ruiqing Ma, Guojun Li, Yingjiang Ye, Lei Liang, Chong Wang, Haipeng Zhou, Pu Zhang, Lubiao An, Guanjun Shi, Qian Chen, Hongbin Xu, Zhidong Gao

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Clinical spectrum, treatment and outcomes of the m.10197G>A mutation in MT-ND3: a case report, systematic review and meta-analysis by YuZhi Shi, Bin Chen, SongTao Niu, XinGao Wang, ZaiQiang Zhang

“…Abstract Background A correlation between various sites or types of mutations in mitochondrial DNA ND3 and the development of a specific mitochondrial disease or phenotype has yet to be fully established. …”
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Very first real-world data on zongertinib use in non-small cell lung cancer patients with HER2 mutations: A brief report by Oliver Illini, Anna Sophie Lang-Stöberl, Hannah Fabikan, Christoph Weinlinger, Arschang Valipour, Maximilian J. Hochmair

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Real-world pharmacovigilance analysis unveils the toxicity profile of amivantamab targeting EGFR exon 20 insertion mutations in non-small cell lung cancer by Jing Zhang, Wenjie Li

Subjects: “…EGFR exon 20 insertion mutations…”
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Genome analysis and prevalence of SARS-CoV-2 Indonesian variants and the correlation with the outbreak timeline by Maria Prevyolita Indra Muliawan, Timotius Christopher Tantokusumo, Amalda Siti Anisa, Kholis Abdurachim Audah

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How do monomorphic bacteria evolve? The Mycobacterium tuberculosis complex and the awkward population genetics of extreme clonality by Stritt, Christoph, Gagneux, Sebastien

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STR profiling in a cohort of Saudi patients with acute leukemia by Husein A. Alhatim, PhD Student, Muhammad NH Abdullah, PhD, Suhaili A. Jamaludin, PhD, Armania B. Nurdin, PhD, Sayed A. Amer, PhD

Subjects: “…Genetic mutation…”
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Characterization of the genomic landscape of canine diffuse large B-cell lymphoma reveals recurrent H3K27M mutations linked to progression-free survival by Anna Darlene van der Heiden, Raphaela Pensch, Sophie Agger, Heather L. Gardner, William Hendricks, Victoria Zismann, Shukmei Wong, Natalia Briones, Bryce Turner, Karin Forsberg-Nilsson, Cheryl London, Kerstin Lindblad-Toh, Maja Louise Arendt

“…We focused on identifying genes that were significantly or recurrently mutated with coding point mutations, copy number aberrations, and their associations with patient outcomes. …”
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Putative and pretreatment drug resistance mutations in reverse transcriptase gene among untreated chronic hepatitis B patients at Arifin Achmad Regional District Hospital, Riau, Indonesia by Arfianti Arfianti, Fauzia Andrini Djojosugito, Maisaroh Maisaroh, Hendra Asputra, Dita Kartika Sari, Tubagus Odih Rhomdani Wahid

“… Background: Mutations within the hepatitis B virus (HBV) reverse transcriptase (RT) gene have been associated with drug resistance against nucleos(t)ide analogs (NAs). …”
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Preliminary analysis of the role of small hepatitis B surface proteins mutations in the pathogenesis of occult hepatitis B infection via the endoplasmic reticulum stress-induced UPR-ERAD pathway by Huang Chengrong, Zhang Hao, Wang Jing, Li Jianfei, Liu Qian, Zong Qiyin, Zhang Yunyun, Wang Qin, Zhou Qiang

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HВcorAg expression in HВeАg-negative hepatitis: correlation to clinical and histological activity and HВsAg-status by O. P. Dudanova, I. A. Pravdolyubova

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