Identification of a pathogenic SDHD mutation in a Chinese family with hereditary head and neck paraganglioma: implications for genetic counseling and management by Pu Wang, Liming Gao, Wenyang Zhang, Rui Guo, Yin Xia

Subjects: “…SDHD mutation…”
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Filaggrin R501x and 2282del4 gene mutations and its tissue levels in patients with chronic plaque psoriasis by Muhammed Ali Siham

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Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features by Ozgul Bulut, Zeynep Ince, Umut Altunoglu, Sukran Yildirim, Asuman Coban

“…Recently, using exome sequencing, de novo heterozygous mutations in the SETBP1 gene have been identified in patients with SGS. …”
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Prevalence of HIV Drug Resistance Mutations in HIV Type 1 Isolates in Antiretroviral Therapy Naïve Population from Northern India by S. Sinha, H. Ahmad, R. C. Shekhar, N. Kumar, L. Dar, J. C. Samantaray, S. K. Sharma, A. Bhargava, R. M. Pandey, R. L. Mitsuyasu, J. L. Fahey

“…One patient had a major RT mutation M184V, known to confer resistance to lamivudine, and another had a major protease inhibitor (PI) mutation D30N that imparts resistance to nelfinavir. …”
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The Effect on CGRP-Binding of Mutations to the Hydrophilic Residues within the First Transmembrane Region of Human Calcitonin Receptor-Like Receptor (CRLR) by A. C. Conner, S. G. Howitt, M. Wheatley, D. M. Smith, D. R. Poyner

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A new atypical splice mutation in PKD2 leading to autosomal dominant polycystic kidney disease in a Chinese family by Junlin Zhang, Yiting Wang, Yingwang Zhao, Fang Liu

Subjects: “…atypical splice mutation…”
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Annotation of Genes Having Candidate Somatic Mutations in Acute Myeloid Leukemia with Whole-Exome Sequencing Using Concept Lattice Analysis by Kye Hwa Lee, Jae Hyeun Lim, Ju Han Kim

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Changing Treatment and Metastatic Disease Patterns in Patients with EGFR Mutated NSCLC: An Academic Thoracic Medical Investigator’s Consortium Registry Analysis by Margaret Stalker, MD, Connor B. Grady, MPH, Alex Watts, MS, Wei-Ting Hwang, PhD, Krishna Chandrasekhara, MS, Fangdi Sun, MD, Geoffrey Liu, MD, Devalben Patel, MD, Jorge Nieva, MD, Amanda Herrmann, MD, Kristen Marrone, MD, Vincent K. Lam, MD, Vamsidhar Velcheti, MD, Stephen V. Liu, MD, Gabriela Liliana Bravo Montenegro, MD, William Tompkins, MD, Tejas Patil, MD, Jared Weiss, MD, Kelsey Leigh Miller, MD, William Schwartzman, MD, Jonathan E. Dowell, MD, Khvaramze Shaverdashvili, MD, PhD, Liza Villaruz, MD, Amanda Cass, PharmD, Wade Iams, MD, Dara Aisner, MD, PhD, Charu Aggarwal, MD, MD, D. Ross Camidge, MD, PhD, Lova Sun, MD, Melina E. Marmarelis, MD

“…Introduction: Osimertinib is now a standard first-line (1L) therapy for EGFR-mutated (EGFRm) advanced NSCLC. We aimed to characterize patterns of therapy and longitudinal risk of brain and liver metastasis in a cohort of EGFRm NSCLC. …”
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Successful treatment of pyoderma gangrenosum complicated by JAK2V617F mutation-positive myelofibrosis with adalimumab and systemic steroid by Kyohei Shibuta, Koremasa Hayama, Katsuhiro Miura, Hideki Fujita

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mRNA vaccines with RBD mutations have broad-spectrum activity against SARS-CoV-2 variants in mice by Xiaoming Liang, Yuxia Yuan, Junbin Wang, Cong Tang, Yun Yang, Yanan Zhou, Hao Yang, Qing Huang, Wenhai Yu, Haixuan Wang, Yuhuan Yan, Dongdong Lin, Yanwen Li, Xuena Du, Longhai Yuan, Wenqi Quan, Daoju Wu, Shuaiyao Lu

“…Abstract The emergence of SARS-CoV-2 variants with defined mutations that enhance pathogenicity or facilitate immune evasion has resulted in a continual decline in the protective efficacy of existing vaccines. …”
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Correction: EGFR-TKIs or EGFR-TKIs combination treatments for untreated advanced EGFR-mutated NSCLC: a network meta-analysis by Ao Liu, Xiaoming Wang, Lian Wang, Han Zhuang, Liubo Xiong, Xiao Gan, Qian Wang, Guanyu Tao

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Prospective analysis of the effects of RAS mutation on local tumor progression and overall survival after radiofrequency ablation for colorectal liver metastases by Ji-Chen Wang, Yu-Hui Liu, Bin-Bin Jiang, Li-Jin Shao, Song Wang, Wei Yang, Wei Wu, Kun Yan, Zhong-Yi Zhang

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AI allows pre-screening of FGFR3 mutational status using routine histology slides of muscle-invasive bladder cancer by Pierre-Antoine Bannier, Charlie Saillard, Philipp Mann, Maxime Touzot, Charles Maussion, Christian Matek, Niklas Klümper, Johannes Breyer, Ralph Wirtz, Danijel Sikic, Bernd Schmitz-Dräger, Bernd Wullich, Arndt Hartmann, Sebastian Försch, Markus Eckstein

“…Selective targeting of FGFR3 hotspot mutations with tyrosine kinase inhibitors (e.g., erdafitinib) is approved for mUC and requires FGFR3 mutational testing. …”
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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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A Case Report of Aicardi-Goutières Syndrome Type 7 Caused by IFIH1 Gene Mutation and a Literature Review by ZHAO Min, SHU Zhou, HAN Tongxin, FU Yanhua, GAO Tianji, MAO Huawei

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Fibroblast Growth Factor Receptor 3 (FGFR3)–Analyses of the S249C Mutation and Protein Expression in Primary Cervical Carcinomas by Haiyan Dai, Ruth Holm, Gunnar B. Kristensen, Vera M. Abeler, Anne‐Lise Børresen‐Dale, Åslaug Helland

“…We have analysed 91 cervical carcinomas for this specific S249C mutation using amplification created restriction site methodology (ACRS), and detected no mutations. …”
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Mutation yellow in agouti loci prevents age-related increase of skeletal muscle genes regulating free fatty acids oxidation by Y. V. Piskunova, A. Y. Kazantceva, A. V. Baklanov, N. M. Bazhan

“…The lethal yellow mutation in agouti loci (Ay mutation) reduces the activity of melanocortin (MC) receptors and causes hyperphagia, obesity and type two diabetes mellitus in aging mice (Ay mice). …”
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RAS/BRAF Circulating Tumor DNA Mutations as a Predictor of Response to First-Line Chemotherapy in Metastatic Colorectal Cancer Patients by Jiannan Yao, Wanchun Zang, Yang Ge, Nathaniel Weygant, Pan Yu, Lei Li, Guanhua Rao, Zhi Jiang, Rui Yan, Linjia He, Yang Yu, Mulan Jin, Gang Cheng, Guangyu An

“…Conclusion. ctDNA was comparable with tumor tissue for mutation detection. RAS/BRAF mutations detected in ctDNA predict a worse PFS in mCRC patients with first-line chemotherapy. …”
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Fixation and reversion of mutations in the receptor-binding domain of the SARS-CoV-2 spike protein: A 2020–2024 analysis by Daniele Focosi, Pietro Giorgio Spezia, Fabrizio Maggi

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