Generation of the human iPSC line ESi132-A from a patient with retinitis pigmentosa caused by a mutation in the PRPF31 gene by Estefanía Caballano Infantes, Laurie Clauzon, Berta de la Cerda Haynes, Francisco Díaz-Corrales

“…Mutations in the PRPF31 gene are a well-known cause of autosomal dominant retinitis pigmentosa (RP), the most prevalent genetic form of blindness in adults, affecting 1 in 4,000 individuals globally. …”
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Correction: Robust radiogenomics approach to the identification of EGFR mutations among patients with NSCLC from three different countries using topologically invariant Betti numbers. by Kenta Ninomiya, Hidetaka Arimura, Wai Yee Chan, Kentaro Tanaka, Shinichi Mizuno, Nadia Fareeda Muhammad Gowdh, Nur Adura Yaakup, Chong-Kin Liam, Chee-Shee Chai, Kwan Hoong Ng

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CSF3R Gln776X and ASXL1 mutations in multiple myeloma associated with chronic neutrophilic leukemia: case report and literature review by Ying Han, Yajun Shi, Tao Wu, Jinmao Zhou

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First-line treatment for advanced or metastatic EGFR mutation-positive non-squamous non-small cell lung cancer: a network meta-analysis by Mengyao Zhang, Lan Sun

Subjects: “…EGFR mutation-positive…”
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Report of a Novel Mutation in MLH1 Gene in a Hispanic Family from Puerto Rico Fulfilling Classic Amsterdam Criteria for Lynch Syndrome by Juan M. Marqués-Lespier, Yaritza Diaz-Algorri, Maria Gonzalez-Pons, Marcia Cruz-Correa

“…To our knowledge, this mutation has not been previously reported in the literature. …”
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Erratum: Integrative genomic analyses combined with molecular dynamics simulations reveal the impact of deleterious mutations of Bcl-2 gene on the apoptotic machinery and implications in carcinogenesis by Frontiers Production Office

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An allelic atlas of immunoglobulin heavy chain variable regions reveals antibody binding epitope preference resilient to SARS-CoV-2 mutation escape by Weiqi Deng, Weiqi Deng, Xuefeng Niu, Ping He, Ping He, Qihong Yan, Qihong Yan, Huan Liang, Yongping Wang, Yongping Wang, Lishan Ning, Lishan Ning, Zihan Lin, Zihan Lin, Yudi Zhang, Xinwei Zhao, Xinwei Zhao, Liqiang Feng, Linbing Qu, Ling Chen, Ling Chen

“…In contrast, IGHV2-5*01 antibodies using the N56 allele show increased binding resistance to the K444T mutation on RBD.DiscussionThis study provides valuable insights into humoral immune responses from the perspective of Ig alleles and population genetics. …”
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Machine learning based predictive model and genetic mutation landscape for high-grade colorectal neuroendocrine carcinoma: a SEER database analysis with external validation by Ruixin Wu, Ruixin Wu, Sihao Chen, Sihao Chen, Yi He, Yi He, Ya Li, Song Mu, Aishun Jin, Aishun Jin

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Understanding the Spectrum of Mild Clinical Outcomes and Novel Findings in Arterial Tortuosity Syndrome Among Qatari Patients: Implications of SLC2A10 Mutation by Muhammed Riyas K. Rahmath, Haytham Ibrahim, Muhammad Faiyaz-Ul-Haque, Zafar Nawaz, Ahmad Zitoun, Ahmed Hussein, Ahmed Sadek, Ayman El-Menyar, Reema Kamal, Hassan Al-Thani, Gulab Sher

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Correction To: High tumor mutational burden assessed through next‑generation sequencing predicts favorable survival in microsatellite stable metastatic colon cancer patients by Annabella Di Mauro, Mariachiara Santorsola, Giovanni Savarese, Roberto Sirica, Monica Ianniello, Alessia Maria Cossu, Anna Ceccarelli, Francesco Sabbatino, Marco Bocchetti, Anna Chiara Carratu, Francesca Pentimalli, Gerardo Ferrara, Guglielmo Nasti, Michele Caraglia, Alessandro Ottaiano

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A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families by Xueling Wang, Longhao Wang, Hu Peng, Tao Yang, Hao Wu

“…In this study, targeted next-generation sequencing (NGS) in two Chinese Han families identified a novel p.G141R homozygous mutation in ILDR1 as the genetic cause of the deafness. …”
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Jacques FAME NDONGO (2015), Essai sur la sémiotique d’une civilisation en mutation. Le génie africain est de retour by Vincent-Sosthène Fouda

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De Novo Mutation of m.3243A>G together with m.16093T>C Associated with Atypical Clinical Features in a Pedigree with MIDD Syndrome by Zhixin Jiang, Yinan Zhang, Jingbin Yan, Fengwen Li, Xinqian Geng, Huijuan Lu, Xiaoer Wei, Yanmei Feng, Congrong Wang, Weiping Jia

“…The syndrome of maternally inherited diabetes and deafness (MIDD) is typically caused by the m.3243A>G mutation and widely considered maternally inherited. …”
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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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A Novel Mutation in the CYP11B1 Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy by Mohammad A. Alqahtani, Ayed A. Shati, Minjing Zou, Ali M. Alsuheel, Abdullah A. Alhayani, Saleh M. Al-Qahtani, Hessa M. Gilban, Brain F. Meyer, Yufei Shi

“…The mutation created a premature stop codon at amino acid 260 (p.W260∗), resulting in a truncated protein devoid of 11β-hydroxylase activity. …”
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Case report: a rare case of diffusely metastatic BRAF V600E-mutated colorectal cancer with concomitant infiltration of the skin and parotid gland by Aristeidis E. Boukouris, Ioannis Kokkinakis, Elias Drakos, Maria Sfakianaki, Maria Tzardi, Dimitrios Mavroudis, Dimitrios Mavroudis, John Souglakos, John Souglakos

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Expression of the transcription factor encoding gene <i>StTCP23</i> in potato plants infected with the tuber spindle viroid by N. V. Mironenko, A. S. Orina, N. M. Lashina, О. S. Afanasenko

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Effects of mode of reproduction on genetic polymorphism and divergence in wild yams (Dioscoreaceae: Dioscorea) by Xin Wang, Qing-Hong Feng, Zhi-Hua Zeng, Zhi-Qiang Zhang, Jie Cai, Gao Chen, De-Zhu Li, Hong Wang, Wei Zhou

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Impact of heteroresistance on treatment outcomes of people with drug-resistant TB by R. Crowder, M. Kato-Maeda, B. Schwem, A. dela Tonga, D.M. Geocaniga-Gaviola, E. Lopez, C.L. Valdez, A.R. Lim, N. Hunat, A.G. Sedusta, C.A. Sacopon, G.A.M. Atienza, E. Bulag, D. Lim, J. Bascuña, K. Shah, R.P. Basillio, C.A. Berger, M.C.D.P. Lopez, S. Sen, C. Allender, M. Folkerts, U. Karaoz, E. Brodie, S. Mitarai, A.M.C. Garfin, M.C. Ama, D.M. Engelthaler, A. Cattamanchi, R. Destura

Subjects: “…drug resistance-associated mutations…”
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