Promising Response with PI3K Inhibitor for a Patient with Heavily Pretreated PIK3CA Mutation Head-and-Neck Cancer by Ming-Jing Lee, Hsiang-Fong Kao

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Detection of mutations in plasma cell-free DNA of colorectal cancer patients and comparison with cancer panel data for tissue samples of the same cancers by Suji Min, Sun Shin, Yeun-Jun Chung

“…When we examined the KRAS mutations using the plasma cfDNA of the three CRC patients by dPCR, all three mutations were consistently identified. …”
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Two Novel CYP11B1 Gene Mutations in Patients from Two Croatian Families with 11β-Hydroxylase Deficiency by Katja Dumic, Tony Yuen, Zorana Grubic, Vesna Kusec, Ingeborg Barisic, Maria I. New

“…Both patients are compound heterozygous for a novel p.E67fs (c.199delG) mutation in exon 1 and a p.R448H (c.1343G>A) mutation in exon 8. …”
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MPN/MDS OVERLAP SYNDROME ANTICIPATED BY A SEVERE BLEEDING DIATHESIS: HYPOTHESIS OF A PRE-EXISTING PLATELET DISORDER by Paola Ranalli, Stefano Baldoni, Daniela Bruno, Mauro Di Ianni

Subjects: “…Myeloid Neoplasms; Germline mutations…”
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HВcorAg expression in HВeАg-negative hepatitis: correlation to clinical and histological activity and HВsAg-status by O. P. Dudanova, I. A. Pravdolyubova

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Knock-In Mice with Myo3a Y137C Mutation Displayed Progressive Hearing Loss and Hair Cell Degeneration in the Inner Ear by Peipei Li, Zongzhuang Wen, Guangkai Zhang, Aizhen Zhang, Xiaolong Fu, Jiangang Gao

“…To investigate the mechanism of DFNB30-type deafness, we established a mouse model of Myo3a kinase domain Y137C mutation by using CRISPR/Cas9 system. No difference in hearing between 2-month-old Myo3a mutant mice and wild-type mice was observed. …”
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Generation of human induced pluripotent stem cell lines from three different male XLRS patients carrying RS1 gene mutation by Sang-Yun Kim, Yong-Min Choi, Yunho Park, Seung-Hyun Kim, Hyun Beom Song, Jeong Hun Kim, Ok-Seon Kwon, Kyung-Sook Chung

“…X-linked retinoschisis (XLRS) is an inherited retinal disease caused by mutation in RS1 gene. Due to limited cell sources available for studying retinal disease, patient-derived induced pluripotent stem cells (iPSCs) offer an essential resource for developing XLRS disease models. …”
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Enjeux de la mutation des techniques artisanales sur la formalisation de l’exploitation de l’or au Burkina Faso by Edith Sawadogo, Dapola Evariste Constant Da†

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Gender and melanoma subtype‐based prognostic implications of MUC16 and TTN co‐occurrent mutations in melanoma: A retrospective multi‐study analysis by Nilesh Kodali, Simona Alomary, Abhijit Bhattaru, Ahmed Eldaboush, Robert A. Schwartz, Shari R. Lipner

“…For MUP patients, only MUC16 mutations correlated with worse prognosis. ALM patients with neither MUC16 nor TTN mutations had significantly more total mutations than MUP patients, followed by CM patients. …”
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The Missing LNK: Evolution from Cytosis to Chronic Myelomonocytic Leukemia in a Patient with Multiple Sclerosis and Germline SH2B3 Mutation by Krishna Gundabolu, Bhavana J. Dave, Carmelita J. Alvares, Jeffrey J. Cannatella, Vijaya R. Bhatt, Lori J. Maness, Zaid S. Al-Kadhimi, Rana K. Zabad, Allison M. Cushman-Vokoun

“…Germline mutation in SH2B adaptor protein 3 (SH2B3) had been reported before to affect a family with autoimmune disorders and acute lymphoblastic leukemia. …”
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Clinical utility of tumour mutational burden on efficacy of immune checkpoint inhibitors in malignant solid tumours: protocol for a systematic review and meta-analysis by Xiaoguang Yang, Yunming Li, Xuemei Xiang, Wang Guo, Pengfei Zhou

“…We propose a systematic review to evaluate the predictive value of tumour mutation burden (TMB) on efficacy of ICIs.Methods and analysis A systematic literature search will be conducted in the PubMed, OVID, Web of Science, Embase and Cochrane Central Register of Controlled Trials Library databases up to 31 May 2022. …”
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OsHMA3 overexpression works more efficiently in generating low-Cd rice grain than OsNramp5 knockout mutation by Yuejing Gui, Joanne Teo, Dongsheng Tian, Raji Mohan, Zhongchao Yin

“…In this study, we compared the efficiency of OsNramp5 knockout mutation and OsHMA3 overexpression in reducing Cd content in rice grain. …”
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Les trois âges de l’intermédiation financière de la Poste (1881-2010) : révélateurs des mutations des rapports sociaux by Nadège Vezinat

“…Post’s institutional trajectory participated in French banking offer and in mutations of social stratification as well. In this paper, I identify three historical periods of financial intermediation and make use of this periodization to shed a fresh light on social classes. …”
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Somatic mutation correlation with lymph node metastasis and prognosis in T1/2 stage colorectal cancer patients: A propensity score matching analysis by Junwei Tang, Yue Zhang, Dongjian Ji, Lu Wang, Han Zhuo, Yaping Wang, Yueming Sun

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P53 and PIK3CA Mutations in KRAS/HER2 Negative Ovarian Intestinal-Type Mucinous Carcinoma Associated with Mature Teratoma by Sarah Bouri, Philippe Simon, Nicky D’Haene, Xavier Catteau, Jean-Christophe Noël

“…We report here the first case of mucinous ovarian tumor in which mutation of the PIK3CA and P53 genes could be demonstrated by the next generation sequencing technique without KRAS mutation or HER2 amplification. …”
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Study Protocol of the Korean EGFR Registry: A Multicenter Prospective and Retrospective Cohort Study in Nonsmall Cell Lung Cancer Patients With EGFR Mutation by Chang Dong Yeo, Dong Won Park, Seong Hoon Yoon, Eun Young Kim, Jeong Eun Lee, Shin Yup Lee, Chang‐Min Choi, In‐Jae Oh, Do Jin Kim, Jeong Seon Ryu, Jae Cheol Lee, Young‐Chul Kim, Tae Won Jang, Kye Young Lee, Seung Hun Jang, Seung Joon Kim, for the Korean EGFR Registry Investigators

“…ABSTRACT Introduction The provision of treatment for epidermal growth factor receptor (EGFR)‐mutated nonsmall cell lung cancer (NSCLC) patients has increased in Korea. …”
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Sex and outcomes of patients with microsatellite instability-high and BRAF V600E mutated metastatic colorectal cancer receiving immune checkpoint inhibitors by Michael Hoffmeister, Hermann Brenner, Chiara Cremolini, Sara Lonardi, Filippo Pietrantonio, Julien Taieb, David Tougeron, Robyn L Ward, Marco Vitellaro, Thierry André, Pierre Laurent-Puig, Jitendra Jonnagaddala, Francesca Bergamo, Raghav Sundar, Claire Gallois, Michael J Overman, Jakob Nikolas Kather, Lisa Salvatore, Romain Cohen, Rossana Intini, Priya Jayachandran, Miriam Koopman, Javier Ros, Marwan Fakih, Vincenzo Nasca, Giacomo Mazzoli, Jeanine M L Roodhart, Filippo Ghelardi, Elena Elez, Durgesh Wankhede, Marta Ligero, Joseph Zhao, Koen Zwart, Jeroen Derksen, Nicholas Hawkins, Javier Carmona

“…Exploratory transcriptomic analyses suggest that tumors of males with BRAF mutated MSI-H metastatic CRC are characterized by an enrichment of androgen receptor signature and an immune-depleted microenvironment, with a reduction in memory B cells, activated natural killer cells, and activated myeloid dendritic cells.Conclusions Overall, our findings suggest a complex interplay between sex and BRAF mutational status that may modulate the activity of ICIs in patients with MSI-H mCRC and pave the way to novel tailored strategies.…”
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Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association? by Claudio Fozza, Fausto Poddie, Salvatore Contini, Antonio Galleu, Francesca Cottoni, Maurizio Longinotti, Francesco Cucca

“…Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by skin lesions, neurosensorial hypoacusia, and keratitis, usually due to the c.148G→A mutation involving the connexin 26 gene. We report on a KID patient who showed the atypical c.101T→C mutation and developed a T-cell lymphoma so far never described in this group of patients.…”
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Case report: Personalized management of treatment resistance in advanced NSCLC patients with mutated epidermal growth factor receptor: special examples and literature review by Jun Wang, Jun Wang, Xiaojing Li, Shuang Dong, Sheng Hu, Fengming Ran, Yu Qian

“…The first subclass involves the acquisition of target mutations that lead to changes in the kinase domain, thereby hindering drug binding. …”
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Effects of Somatic Mutations Are Associated with SNP in the Progression of Individual Acute Myeloid Leukemia Patient: The Two-Hit Theory Explains Inherited Predisposition to Pathogenesis by Soyoung Park, Youngil Koh, Sung-Soo Yoon

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