A mutation in RNA polymerase imparts resistance to β-lactams by preventing dysregulation of amino acid and nucleotide metabolism by Yesha Patel, John D. Helmann

“…Summary: Resistance to diverse antibiotics can result from mutations in RNA polymerase (RNAP), but the underlying mechanisms remain poorly understood. …”
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Developmental defects in ectodermal appendages caused by missense mutation in edaradd gene in the nfr mangrove killifish kryptolebias marmoratus by Hussein A. Saud, Paul A. O’Neill, Brian C. Ring, Tetsuhiro Kudoh

“…Abstract The mangrove killifish, Kryptolebias marmoratus, can reproduce with self-fertilisation, offering a unique and useful genetic tool for generation of genetic mutants and quick identification of mutated genes. From an ENU-mutated mangrove killifish line R228, we have isolated a novel mutant line, no-fin-ray/nfr in which homozygous mutant of adult fish fin ray development is largely reduced. …”
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The potential of MRI radiomics based on extrapulmonary metastases in predicting EGFR mutations: a systematic review and meta-analysis by Linyong Wu, Dayou Wei, Songhua Li, Shaofeng Wu, Yan Lin, Lifei Chen

“…Abstract Background Epidermal growth factor receptor (EGFR) gene mutations can lead to distant metastasis in non-small cell lung cancer (NSCLC). …”
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Three MYO15A Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss by Fengguo Zhang, Lei Xu, Yun Xiao, Jianfeng Li, Xiaohui Bai, Haibo Wang

“…They were concluded to be pathogenic mutations by phylogenetic analysis and structure modeling. …”
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TERT de novo mutation-associated dyskeratosis congenita and porto-sinusoidal vascular disease: a case report by Ge Yu, Guijie Xin, Xu Liu, Wanyu Li, Chen Shao, Runping Gao

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Knockdown-resistant mutations in head lice (Pediculus humanus capitis) collected from schoolchildren in Riyadh, Saudi Arabia by Imtinan H. Alghashmari, Noha T. Zelai

“…The aim of this study is to evaluate the frequency of pyrethroid-resistant mutations in Riyadh City, Saudi Arabia. To do that, Sanger sequencing was employed to find the frequency of mutated alleles in the voltage-sensitive sodium channel gene (VSSC). …”
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A Novel Myosin Essential Light Chain Mutation Causes Hypertrophic Cardiomyopathy with Late Onset and Low Expressivity by Paal Skytt Andersen, Paula Louise Hedley, Stephen P. Page, Petros Syrris, Johanna Catharina Moolman-Smook, William John McKenna, Perry Mark Elliott, Michael Christiansen

“…Hypertrophic cardiomyopathy (HCM) is caused by mutations in genes encoding sarcomere proteins. Mutations in MYL3, encoding the essential light chain of myosin, are rare and have been associated with sudden death. …”
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Molecular Patterns of MEFV Gene Mutations in Egyptian Patients with Familial Mediterranean Fever: A Retrospective Cohort Study by Amal R. Mansour, Ayman El-Shayeb, Nihal El Habachi, Mohamad A. Khodair, Doaa Elwazzan, Nermeen Abdeen, Marwa Said, Riham Ebaid, Noha ElShahawy, Amr Seif, Nadia Zaki

“…FMF is associated with a broad mutational spectrum in this gene. Certain mutations are more common in particular ethnic groups. …”
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A Point Mutation in the Iron-Responsive Element of the L-Ferritin in a Family with Hereditary Hyperferritinemia Cataract Syndrome by Karen Wong, Yousef Barbin, Subrata Chakrabarti, Paul Adams

“…The genetic abnormality is identified as a mutation in the 5' regulatory region of the L-ferritin messenger RNA known as the iron-responsive element (IRE). …”
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Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing by Johan J. P. Gille, Karijn Floor, Lianne Kerkhoven, Najim Ameziane, Hans Joenje, Johan P. de Winter

“…In addition, in populations with strong founder mutations, a limited test using Sanger sequencing and MLPA will be a cost-effective alternative. …”
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Late Emergence of an Imatinib-Resistant ABL1 Kinase Domain Mutation in a Patient with Chronic Myeloid Leukemia by Mireille Crampe, Claire Andrews, Anne Fortune, Stephen E. Langabeer

“…The introduction of the tyrosine kinase inhibitor (TKI) imatinib has revolutionised the outlook of chronic myeloid leukemia (CML); however, a significant proportion of patients develop resistance through several mechanisms, of which acquisition of ABL1 kinase domain mutations is prevalent. In chronic-phase patients, these mutations become evident early in the disease course. …”
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Homozygous CALR Mutation in Primary Myelofibrosis and Its Effect on Disease Phenotype: A Case Report and Review of the Literature by Qurratulain Rizvi, Uzma Zaidi, Saba Shahid, Shariq Ahmed, Tahir Shamsi

“…Somatic mutations in CALR gene have been reported in 60%–88% of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF) who are negative for JAK2 and MPL mutations. …”
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Allografting for Bosutinib, Imatinib, Nilotinib, Dasatinib, and Interferon Resistant Chronic Myeloid Leukemia without ABL Kinase Mutation by B. Uz, O. Bektas, E. Eliacik, H. Goker, Y. Erbilgin, M. Sayitoglu, N. Sayinalp, S. Aksu, Y. Buyukasik, O. Ozcebe, I. C. Haznedaroglu

“…The striking point of this case story is that no Abl kinase domain mutation against TKIs has been detected during this very complicated disease course of CML. …”
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Occult Hepatitis B Infection among Hemodialysis Patients in Tabriz, Northwest of Iran: Prevalence and Mutations within the S Region by Narges Eslami, Vahdat Poortahmasebi, Javid Sadeghi, Reza Ghotaslou, Bahram Niknafs, Hossein Bannazadeh Baghi, Mahin Ahangar Oskouee

“…Following the phylogenetic analysis, the samples with OBI roughly belonged to genotype D, subtype ayw2 and only two had mutations within the S ’gene’s major hydrophilic region (MHR), including T123I, C124F, and P127T. …”
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Extension of Chronological Lifespan by Hexokinase Mutation in Kluyveromyces lactis Involves Increased Level of the Mitochondrial Chaperonin Hsp60 by Lisa Rizzetto, Elena Zanni, Daniela Uccelletti, Ileana Ferrero, Paola Goffrini

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The Frequency of Epidermal Growth Factor Receptor Mutation of Nonsmall Cell Lung Cancer according to the Underlying Pulmonary Diseases by Kazuhiro Usui, Tomonori Ushijima, Yoshiaki Tanaka, Chiharu Tanai, Hiromichi Noda, Norifumi Abe, Hajime Horiuchi, Teruo Ishihara

“…The selection of chemotherapy based on the EGFR mutation status is recommended, however, the frequency of EGFR mutation in patients with ILD and the efficacy and safety of EGFR-TKI in patients with ILD and EGFR mutation are unknown. …”
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The diagnostic accuracy of circulating free DNA for the detection of KRAS mutation status in colorectal cancer: A meta‐analysis by Wenli Xie, Li Xie, Xianrang Song

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Identification of a novel SPTB gene splicing mutation in hereditary spherocytosis: a case report and diagnostic insights by Xiaobing Li, Xiaobing Li, Xiaobing Li, Xiaobing Li, Xiaobing Li, Tingqiang Zhang, Tingqiang Zhang, Tingqiang Zhang, Tingqiang Zhang, Xuemei Li, Li Wang, Li Wang, Li Wang, Li Wang, Qian Li, Qian Li, Qian Li, Qian Li, Qianqian Liu, Qianqian Liu, Qianqian Liu, Qianqian Liu, Chengyin He, Li Zhang, Li Zhang, Li Zhang, Li Zhang, Yongsheng Liu, Yongsheng Liu, Yongsheng Liu, Yongsheng Liu, Junling Tang, Junling Tang, Junling Tang, Junling Tang

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A mutation in LXRα uncovers a role for cholesterol sensing in limiting metabolic dysfunction-associated steatohepatitis by Alexis T. Clark, Lillian Russo-Savage, Luke A. Ashton, Niki Haghshenas, Nicolas A. Amselle, Ira G. Schulman

“…We have generated mice with a mutation in LXRα that reduces activity in response to endogenous cholesterol derived LXR ligands while still allowing transcriptional activation by synthetic agonists. …”
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A Novel STAT3 Gene Mutation Related Hyper-IgE Syndrome Misdiagnosed as Hidradenitis Suppurativa by Pragya Shrestha, Geetika Sabharwal, Gisoo Ghaffari

“…We present a case of a young female with Hyper-IgE Syndrome with a novel mutation in STAT 3 gene who initially presented with long standing history of intractable skin abscesses being managed as Hidradenitis Suppurativa.…”
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