A case report of infantile fibrosarcoma with BRAF gene mutation with incomplete intestinal obstruction by Fan Zhu, Liang Fan, Guanhua Cui, Hai Jian, Hongjie Zhou, Jianfeng Xu, Fengshun Chen

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T cell receptors specific for an imatinib-induced mutation in BCR-ABL for adoptive T cell therapy by Meng-Tung Hsu, Gerald Willimsky, Gerald Willimsky, Gerald Willimsky, Leo Hansmann, Leo Hansmann, Leo Hansmann, Leo Hansmann, Thomas Blankenstein

“…Although TKIs are effective, drug resistance caused by the emergence of drug-selected secondary mutations in BCR-ABL remains a major problem for relapse, especially in patients with compound mutations. …”
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Mobility of social processes as a resource of society. Correlation of the concepts of pathology, deviation, mutations by S. I. Shlyapin

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Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations by Yuuki Arai, Akiko Maeda, Yasuhiko Hirami, Chie Ishigami, Shinji Kosugi, Michiko Mandai, Yasuo Kurimoto, Masayo Takahashi

“…EYS mutations are the most prevalent among Japanese patients with IRD.…”
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Bilateral Pheochromocytomas in a Patient with Y175C Von Hippel-Lindau Mutation by Olga Astapova, Anindita Biswas, Alessandra DiMauro, Jacob Moalem, Stephen R. Hammes

“…Von Hippel-Lindau (VHL) disease, caused by germline mutations in the VHL gene, is characterized by metachronously occurring tumors including pheochromocytoma, renal cell carcinoma (RCC), and hemangioblastoma. …”
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Case Study: Analyzing CFTR Mutations and SNPs in Pulmonary Fibrosis Patients with Unclear Symptoms by Sahar Yousaf, null Sumaira, Iqbal Bano, Atia Rehman, Samra Kousar, Muhammad Usman Ghani, Mariam Shahid

“…Genetic testing plays a crucial role in diagnosing cystic fibrosis, even when traditional tests are inconclusive. Specific mutations like Δ508 deletion and rs213950 guide personalized treatment. …”
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Bone Mineral Density in Postmenopausal Women Heterozygous for the C282Y HFE Mutation by Jenny E. Gunton, Frances Gates, Greg R. Fulcher, Phillip B. Clifton-Bligh

“…Mutations in the HFE gene may be associated with increased tissue iron stores reflected in an elevated serum ferritin. …”
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KRAS, p53 and BRAF Gene Mutations and Aneuploidy in Sporadic Colorectal Cancer Progression by Daniele Calistri, Claudia Rengucci, Ian Seymour, Elena Leonardi, Mauro Truini, Davide Malacarne, Patrizio Castagnola, Walter Giaretti

“…A similar correlation between gene mutations and DI values was observed for KRAS. The simultaneous presence of KRAS and p53 mutations was observed in only 11% of cases. …”
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Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy by Xike Wang, Yue Wu, Yuxia Cui, Nan Wang, Lasse Folkersen, Yuchuan Wang

“…Limb girdle muscular dystrophies (LGMDs) are a heterogeneous group of genetic myopathies leading primarily to proximal muscle weakness. It is caused by mutations at over 50 known genetic loci typically from mutations in genes encoding constituents of the sarcolemmal dystrophin complex or related functions. …”
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Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer by Kyong-Ah Yoon, Sang Myung Woo, Yun-Hee Kim, Sun-Young Kong, Sung-Sik Han, Sang-Jae Park, Woo Jin Lee

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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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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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