Deep mutational scanning of the Trypanosoma brucei developmental regulator RBP6 reveals an essential disordered region influenced by positive residues by Saúl Rojas-Sánchez, Nikolay G. Kolev, Christian Tschudi

“…RNA-binding protein 6 (RBP6) is a potent orchestrator of this process, however, an understanding of its functionally important domains and their mutational constraints is lacking. Here, we perform deep mutational scanning of the entire RBP6 primary structure. …”
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Intercellular TIMP-1-CD63 signaling directs the evolution of immune escape and metastasis in KRAS-mutated pancreatic cancer cells by Chu-An Wang, Ya-Chin Hou, Yi-Kai Hong, Yu-Jing Tai, Chieh Shen, Pei-Chi Hou, Jhao-Lin Fu, Cheng-Lin Wu, Siao Muk Cheng, Daw-Yang Hwang, Yung-Yeh Su, Yan-Shen Shan, Shaw-Jenq Tsai

“…Abstract Background and aims Oncogenic KRAS mutations are present in approximately 90% of pancreatic ductal adenocarcinoma (PDAC). …”
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First Report of Diabetes Phenotype due to a Loss-of-Function ABCC8 Mutation Previously Known to Cause Congenital Hyperinsulinism by Theocharis Koufakis, Amalia Sertedaki, Elizabeth-Barbara Tatsi, Christina-Maria Trakatelli, Spyridon N. Karras, Eleni Manthou, Christina Kanaka-Gantenbein, Kalliopi Kotsa

“…This mutation has been previously described in patients with Congenital Hyperinsulinism. …”
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Novel IL2RG gene mutation causing primary combined immunodeficiency disease: A case report and literature review by Fang Cao, Yingyu Shi, Fang Deng, Yu Yan

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Erlotinib therapy for Olmsted syndrome with p.L655P missense mutation in the TRPV3 gene: a case report by Jia Zhang, MengYue Guo, DongYang Yuan, JinYang Wei, Hongzhou Cui, Hongzhou Cui

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Identification and Functional Characterization of P159L Mutation in in a Family with Maturity-Onset Diabetes of the Young 5 (MODY5) by Eun Ky Kim, Ji Seon Lee, Hae Il Cheong, Sung Soo Chung, Soo Heon Kwak, Kyong Soo Park

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Mucin-producing urothelial-type adenocarcinoma of the prostate with a gene mutation characteristic of intestinal adenocarcinoma: case report and literature review by Ao Yu, Ao Yu, Hongbo Su, Peiling Yu, Siqi Cai, Shuaixian Mu, Jinhui Yu, Qianting Lu, Yuan Miao, Ailin Li

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Brief communication: virological outcomes and dolutegravir resistance mutations in HIV-infected patients: a multicenter retrospective cohort study in Mozambique by Anna Maria Doro Altan, Noorjehan Majid, Stefano Orlando, Elton Uamusse, Marcia Rafael, Zita Sidumo, Giovanni Guidotti, Fausto Ciccacci

“…This study evaluated virological outcomes and resistance mutations in patients on DTG in Mozambique through a retrospective cohort study in seven DREAM centers. …”
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Réflexions suite au 57e colloque de l’ASRDLF « Territoire(s) et Numérique. Innovations, mutations et décision » by Cyrille Genre-Grandpierre, Guilhem Boulay, Alain Richaud, Didier Josselin, Lise Bourdeau-Lepage

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Clinical and genetic analysis of a Chinese family with GM1 gangliosidosis caused by a novel mutation in GLB1 gene by Biao Zhang, Xiao-li Huang, Xin-xin Lu, Heng-bin Huang, Yan-an Wu

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Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion by Lucio Tremolizzo, Gessica Sala, Elisa Conti, Virginia Rodriguez-Menendez, Antonella Fogli, Angela Michelucci, Paolo Simi, Silvana Penco, Christian Lunetta, Massimo Corbo, Carlo Ferrarese

“…This c.194G>A spastin mutation might expand the previously known borders of type 4 spastic paraplegia (SPG4) and we suggest the intriguing possibility that the absence of SMN2 might have acted as a contributory risk factor for starting lower motor neuron damage. …”
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Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH by Xiaodong Gu, Wenling Su, Mingliang Tang, Luo Guo, Liping Zhao, Huawei Li

“…Our data enriched the mutation spectrum of DFNA9 and implied the importance for mutation screening of COCH in age related hearing loss with vestibular dysfunctions.…”
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Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies by Sanem Eren Akarcan, Ezgi Ulusoy Severcan, Neslihan Edeer Karaca, Esra Isik, Guzide Aksu, Mélanie Migaud, Ferda Evin Gurkan, Elif Azarsiz, Anne Puel, Jean-Laurent Casanova, Necil Kutukculer

“…Patients with STAT1 GOF mutations may exhibit diverse phenotypes including infectious and noninfectious findings. …”
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Translocation (6;15)(q12;q15): A Novel Mutation in a Patient with Therapy-Related Myelodysplastic Syndrome by Saba F. Ali, Rebecca J. Sonu, Denis M. Dwyre, Brian A. Jonas, Hooman H. Rashidi

“…We present a unique case of a patient who initially presented with acute myeloid leukemia (AML) with a normal karyotype and FLT3-ITD and NPM1 mutations. The patient was successfully treated with chemotherapy and an autologous bone marrow transplant but subsequently developed a new FLT3-ITD negative t-MDS with a unique translocation, t(6;15)(q12;q15), three years after transplant. …”
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Timp2 loss-of-function mutation and TIMP2 treatment in a murine model of NSCLC: Modulation of immunosuppression and oncogenic signaling by David Peeney, Sarvesh Kumar, Tej Pratap Singh, Yueqin Liu, Sandra M. Jensen, Ananda Chowdhury, Sasha Coates-Park, Joshua Rich, Sadeechya Gurung, Yu Fan, Daoud Meerzaman, William G. Stetler-Stevenson

“…The effects of a Timp2 functional mutation and administration of recombinant TIMP2 were examined in both orthotopic and heterotopic murine models of lung cancer using C57Bl/6 syngeneic Lewis Lung 2-luciferase 2 cells (LL2-Luc2) cells. …”
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Julien Vercueil, Les pays émergents : Brésil – Russie – Inde – Chine… Mutations économiques et nouveaux défis, Bréal, 2010. by Alain Piveteau

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Imatinib Resistance in Chronic Myeloid Leukemia Associated with a D363G BCR::ABL1 Kinase Domain Mutation by Stephen E. Langabeer, Stuart Macleod, Úna Bhreathnach, Kamal Fadalla

“…Reporting of such cases is important for the future management of any CML patients with this rare mutation.…”
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Distribution and frequency of genetic mutations in three insecticide targets in field populations of Culex tritaeniorhynchus in Mianyang City, Sichuan Province, China by Hongwei Xie, Meilin Tang, Hongying Sun, Zhengzheng Huang, Mengmeng Dong, Xianying Wen

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Monitoring of Circulating Tumor DNA and Indication of De-Escalation Adjuvant Targeted Therapy for EGFR-Mutated NSCLC After Complete Resection by Song Dong, PhD, Bingfa Yan, PhD, Si-Yang Liu, PhD, Xuan Gao, PhD, Hui-Zhao Hong, MD, Hong-Ji Li, MD, Wei Gao, PhD, Hong-Hong Yan, PhD, Si-Yang Maggie Liu, PhD, Hai-Yan Tu, PhD, Yi Pan, PhD, Qing Zhou, PhD, Xue-Ning Yang, PhD, Xue-Feng Xia, PhD, Xin Yi, PhD, Wen-Zhao Zhong, PhD, Yi-Long Wu, MD, Jia-Tao Zhang, PhD

“…Methods: From January 2019 to December 2022, 71 patients with stages I to III NSCLC and EGFR (exon 19 deletion or L858R) mutations were enrolled in this observational study. …”
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Diagnostic accuracy of high-resolution melting curve analysis for discrimination of oncology-associated mutations: a systematic review and meta-analysis by Shu Yu, Yan Cheng, Chen-Cheng Tang, Yue-Ping Liu

“…Objective To investigate the diagnostic value of high-resolution melting (HRM) analysis for oncology-associated epidermal growth factor receptor ( EGFR) gene mutations. Methods We systematically searched Embase, PubMed, and Web of Science for HRM and EGFR mutation detection studies published through September 2024. …”
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