Sigmoid Venous Thrombosis in JAK2 V617F Mutated Polycythemia Vera by Cilomar Martins De Oliveira Filho, Alexander Gavralidis

“…She was diagnosed with polycythemia vera with the JAK2 V617F mutation. The patient underwent magnetic resonance venography, which showed left-sided sigmoid venous thrombosis. …”
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Case report: A panorama gene profile of ovarian cancer metastasized to axillary lymph node by Yu Xia, Yu Huang, Zheng Liu, Siyuan Song, Yi Wang, Yi Wang, Jing Luo

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Real‐World Prevalence, Treatment Patterns, and Outcomes for Patients With HER2 (ERBB2)‐Mutant Metastatic Non‐Small Cell Lung Cancer, From a US‐Based Clinico‐Genomic Database... by Sarah Waliany, Misako Nagasaka, Leah Park, Clara Lam, Zoe Jiang, Feng Lin, Joel W. Neal

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Fatal Postpartum Hemorrhage in Diffuse Midline Glioma with H3-K27M Mutation by Takeshi Miyazaki, Masahiro Tsuji, Shinya Hagiwara, Toshiko Minamoto, Noriyoshi Ishikawa, Junko Hirato, Sumihito Nobusawa, Yasuhiko Akiyama

“…This is the first case report of diffuse midline glioma with H3-K27M mutation in a pregnant woman followed by fatal hemorrhage. …”
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The epidemiology and gene mutation characteristics of pyrazinamide-resistant Mycobacterium tuberculosis clinical isolates in Southern China by Nan Wang, Fanrong Meng, Li Deng, Ling Wu, Yu Yang, Hua Li, Yuanjin Chen, Zeyou Wei, Bei Xie, Lan Gong, Qun Niu, Jie Lei, Junwen Gao, Bo Huang, Qi Wang, Xiaomin Lai, Zhihui Liu, Jinxing Hu

“…No panD mutations were observed in the 137 PZA-resistant isolates, whereas two PZA-sensitive isolates harboured point mutations in panD, including one nonsense mutation (C433 T) and another C-69 T mutation. …”
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The Association Between Pro-Inflammatory Cytokines and Antiretroviral Therapy Resistance-Related Mutations in HIVPositive Patients by Dwitya Elvira, Rizka Nadia, Raveinal Raveinal

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Pembrolizumab in a Patient with Treatment-Naïve Unresectable BRAF-Mutation Negative Anaplastic Thyroid Cancer by Fadi Nabhan, Elizabeth Kander, Rulong Shen, Amit Agrawal, Vineeth Sukrithan, Ye Zhou, Ashima Goyal, Katie Roll, Manisha Shah, Bhavana Konda

“…A fine needle aspiration (FNA) biopsy revealed tumor cells consistent with ATC that were positive for PD-L1, with an expression score of >95% and negative for the BRAF V600E mutation. Imaging studies were negative for distant metastases. …”
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Impact of frequent ARID1A mutations on protein stability provides insights into cancer pathogenesis by Rajen K. Goutam, Gangtong Huang, Exequiel Medina, Feng Ding, William J. Edenfield, Hugo Sanabria

“…Abstract The ARID1A gene, frequently mutated in cancer, encodes the AT-rich interactive domain-containing protein 1 A, a key component of the chromatin remodeling SWI/SNF complex. …”
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Familial Mediterranean Gene (MEFV) Mutation in Parents of Children with Familial Mediterranean Fever: What Are the Exceptions? by Leila Shahbaznejad, Sayed-Reza Raeeskarami, Raheleh Assari, Abbas Shakoori, Hamidreza Azhideh, Yahya Aghighi, Fatemeh Tahghighi, Vahid Ziaee

“…In the considerable count of the FMF patients, only one mutation is found in the MEFV and parents, who were the obligatory carriers for that mutation, were asymptomatic. …”
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Retracted: Detection and Significance of Cell-Free DNA Mutation in Pleural Effusion in Patients with Advanced NSCLC by Emergency Medicine International

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A multiscale functional map of somatic mutations in cancer integrating protein structure and network topology by Yingying Zhang, Alden K. Leung, Jin Joo Kang, Yu Sun, Guanxi Wu, Le Li, Jiayang Sun, Lily Cheng, Tian Qiu, Junke Zhang, Shayne D. Wierbowski, Shagun Gupta, James G. Booth, Haiyuan Yu

“…Abstract A major goal of cancer biology is to understand the mechanisms driven by somatically acquired mutations. Two distinct methodologies—one analyzing mutation clustering within protein sequences and 3D structures, the other leveraging protein-protein interaction network topology—offer complementary strengths. …”
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Mutations to transcription factor MAX allosterically increase DNA selectivity by altering folding and binding pathways by Renee Hastings, Arjun K. Aditham, Nicole DelRosso, Peter H. Suzuki, Polly M. Fordyce

“…Twenty-two of the 240 assayed MAX point mutations enhance selectivity, yet none of these mutations occur at residues that contact nucleotides in published structures. …”
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Pleuropulmonary Blastoma (PPB) in Child with DICER1 Mutation: The First Case Report in the State of Qatar by Sara G. Hamad, Amal Al-Naimi, Mutasim Abu-Hasan

“…PPB has strong genetic association with mutations in DICER1 gene. Despite being rare, PPB is the most common lung tumor in children below 6 years of age. …”
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Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T by Holli M. Drendel, Jason E. Pike, Katherine Schumacher, Karen Ouyang, Jing Wang, Mary Stuy, Stephen Dlouhy, Shaochun Bai

“…Here we report the finding of a novel missense mutation, c.1052C>T (p.Thr326Ile), in the ACADM gene. …”
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A Y178C rhodopsin mutation causes aggregation and comparatively severe retinal degeneration by Sreelakshmi Vasudevan, Paul S.–H. Park

“…The mechanism by which these mutations cause photoreceptor cell death, and the role aggregation plays in this process is still unclear. …”
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Role of Bone Marrow-Derived Stem Cells in Polyps Development in Mice with ApcMin/+ Mutation by Michele Barone, Maria Principia Scavo, Raffaele Licinio, Michele Piombino, Nicola De Tullio, Rosanna Mallamaci, Alfredo Di Leo

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Association between the rifampicin resistance mutations and rifabutin susceptibility in Mycobacterium tuberculosis: A meta-analysis by Wenli Wang, Hongjuan Zhou, Long Cai, Tingting Yang

Subjects: “…Rifampicin resistance mutation…”
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Distinct Impacts of Clinicopathological and Mutational Profiles on Long-Term Survival and Recurrence in Medullary Thyroid Carcinoma by Moon Young Oh, Kyong Yeun Jung, Hoonsung Choi, Young Jun Chai, Sun Wook Cho, Su-jin Kim, Kyu Eun Lee, Eun-Jae Chung, Do Joon Park, Young Joo Park, Han-Kwang Yang

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Mice infected with M. tuberculosis with Rv0678 mutations still benefit from bedaquiline treatment by N. Lounis, T. Gevers, C. Villellas, K. Andries

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Identification of a Mutation in the Novel Compound Heterozygous CFTR in a Chinese Family with Cystic Fibrosis by Hongxia Shao, Jingna Hua, Qi Wu, Xiaoge Li, Ming Zhang, Herong Wang, Junping Wu, Long Xu, Yi Xie, Li Li, Huaiyong Chen

“…Objectives. To elucidate the mutation in the novel compound heterozygous CFTR causing CF in Chinese family. …”
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