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Kit mutation

Yongyun Li, Jie He, Chun Qiu, Qingfeng Shang, Guanxiang Qian, Xianqun Fan, Shengfang Ge, Renbing Jia
BACKGROUND: Uveal melanoma (UM) is a severe human malignancy with a high mortality rate, as well as high metastasis and recurrence potential. The active mutation of G protein subunit alpha q (GNAQ) or G protein subunit alpha 11 (GNA11) is a major trigger for UM. Oncolytic adenovirus H101 (H101) is the first oncolytic virus approved for clinical applications in cancer therapy by the China Food and Drug Administration. We investigated whether combining H101 with the downregulation of GNAQ expression would act synergistically in UM therapy...
October 15, 2018: Journal of Cellular Biochemistry
Zhixiong Zhong, Heming Wu, Bin Li, Cunren Li, Zhidong Liu, Min Yang, Qifeng Zhang, Wei Zhong, Pingsen Zhao
BACKGROUND In southern China, glucose-6-phosphate dehydrogenase (G6PD) deficiency is a significant health problem. The aim of this study was to investigate the molecular epidemiological characteristic of the G6PD gene among Chinese Hakka in southern Guangdong province. MATERIAL AND METHODS We screened 611 unrelated subjects for G6PD genetic polymorphism analyzed by a gene chip analysis for common Chinese G6PD mutations. G-6-PD enzyme activity was determined by use of the G-6-PD quantitative detection kit. RESULTS Seven mutation sites were detected from subjects in our study...
October 13, 2018: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
Yuichi Ishikawa
Core binding factor-acute myeloid leukemia (CBF-AML) comprises AML with t (8;21) (p22;q22) and inv16 (q16q16) /t (16;16) (q16;q16) and accounts for 20% of AML cases. The 2016 WHO classification categorized CBF-AML under AML with recurrent genetic abnormalities and considered it as a favorable risk group with a higher remission rate and better overall survival with high-dose cytarabine post-remission therapy. However, relapse occurs in approximately 40% of patients, thereby necessitating the establishment of risk stratification and risk-adapted therapy in CBF-AML...
2018: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
Kun Huang, Yujie Dang, Pan Zhang, Cong Shen, Xuesong Sui, Guoliang Xia, Yingying Qin, Xue Jiao, Chao Wang, Ran Huo, Zi-Jiang Chen
STUDY QUESTION: What is the function of CAV1 in folliculogenesis and female reproduction? SUMMARY ANSWER: CAV1 regulates germline cyst breakdown and primordial follicle (PF) formation in mice, and CAV1 mutation may be related to premature ovarian insufficiency (POI). WHAT IS KNOWN ALREADY: Pre-granulosa cells are essential for the establishment of the PF pool, which determines female fertility and reproductive lifespan. Cav1 participates in vascularization in fetal mouse ovaries...
October 9, 2018: Human Reproduction
Giulio Riva, Christine Mian, Claudio Luchini, Ilaria Girolami, Claudio Ghimenton, Luca Cima, Luca Novelli, Esther Hanspeter, Guido Mazzoleni, Christine Schwienbacher, Stefan Pycha, Carolina D'Elia, Emanuela Trenti, Armin Pycha, Guido Martignoni, Ondrej Hes, Albino Eccher, Gabriella Nesi, Matteo Brunelli
Urachal carcinoma (UrC) is an exceedingly rare neoplasm that develops from the urachus, an embryologic remnant of the urogenital sinus and allantois. The most commonly encountered histologic subtype is adenocarcinoma. The aim of this study is to characterize a series of UrC by morphology, immunohistochemistry, and molecular analysis. We retrospectively investigated seven cases of UrCs and assessed patient symptoms, imaging, histologic features, immunohistochemical profile, molecular characteristics, pathologic stages, and type of treatment...
October 9, 2018: Virchows Archiv: An International Journal of Pathology
Koichi R Katsumura, Charu Mehta, Kyle J Hewitt, Alexandra A Soukup, Isabela Fraga de Andrade, Erik A Ranheim, Kirby D Johnson, Emery H Bresnick
By inducing the generation and function of hematopoietic stem and progenitor cells, the master regulator of hematopoiesis GATA-2 controls the production of all blood cell types. Heterozygous GATA2 mutations cause immunodeficiency, myelodysplastic syndrome, and acute myeloid leukemia. GATA2 disease mutations commonly disrupt amino acid residues that mediate DNA binding or cis -elements within a vital GATA2 intronic enhancer, suggesting a haploinsufficiency mechanism of pathogenesis. Mutations also occur in GATA2 coding regions distinct from the DNA-binding carboxyl-terminal zinc finger (C-finger), including the amino-terminal zinc finger (N-finger), and N-finger function is not established...
October 9, 2018: Proceedings of the National Academy of Sciences of the United States of America
Kaitlin Stanley, Erika Friehling, Amy Davis, Sarangarajan Ranganathan
Gastrointestinal stromal tumors (GISTs) are rare in children. Succinate dehydrogenase (SDH)-deficient GISTs are wild type and lack KIT proto-oncogene receptor tyrosine kinase and platelet-derived growth factor receptor A ( KIT or PDGFRA) mutations. These tumors result from germline SDH mutations, somatic SDH mutations, or SDH epimutants. Germline mutations in SDH genes ( SDHA, SDHB, SDHC, or SDHD) suggest Carney-Stratakis syndrome, a paraganglioma syndrome with predisposition for GIST. Negative immunohistochemistry for SDHB indicates dysfunction of the mitochondrial complex regardless of the subunit affected...
October 9, 2018: Pediatric and Developmental Pathology
Hui Xi, Yanan Zhang, Liyan Qin, Huaixing Kang, Ranhui Duan, Zhengjun Jia, Hua Wang
OBJECTIVE: To assess the value of genetic testing for Fragile X syndrome (FXS). METHODS: A domestically made diagnostic kit based Tri-primer-PCR method was used to detect mutations of the FMR1 gene among 6 pedigrees with unexplained intellectual disability. The results were verified by methylation PCR and Southern blotting. RESULTS: Pedigrees 1 and 6 were positive for the screening. In pedigree 1, a full-mutation allele with methylation was identified in the proband and his mother, which was passed on to the fetus...
October 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Shi-Xiang Zhao, Zhi-Xiang Lu, Li-Qun Yu, Xin Guan, Hai-Ping He, Ke-Qian Shi, Ren-Bin Zhao, Tong-Hua Yang
OBJECTIVE: To better define the effect of JAK2V617F mutant allele burden on clinical presentation of patients with essential thrombo cythamia (ET), especially thrombosis. METHODS: Two ml of heparin anti-coagulated bone marrow was collected from 229 ET cases, who were diagnosed and treated in the First People's Hospital of Yunnan Province during 2013.10 to 2016.12. and then the mononuclear cells were separated by Red Blood Cell Lysis Buffer, genomic DNA was extracted from mononuclear cells by using a commercial DNA isolation kit and amplified by allele specific polymerase chain reaction (PCR)...
October 2018: Zhongguo Shi Yan Xue Ye Xue za Zhi
Hong Wang, Amina Boussouar, Laetitia Mazelin, Servane Tauszig-Delamasure, Yan Sun, David Goldschneider, Andrea Paradisi, Patrick Mehlen
c-Kit is a classic proto-oncogene either mutated or upregulated in cancer cells, and this leads to its constitutive kinase activation and, thus, to uncontrolled proliferation. Although the pro-oncogenic role of c-Kit is of no doubt, some observations do not fit well with c-Kit solely as a tumor-promoting moiety. We show here that c-Kit actively triggers cell death in various cancer cell lines unless engaged by its ligand stem cell factor (SCF). This pro-death activity is enhanced when the kinase activation of c-Kit is silenced and is due to c-Kit intracellular cleavage by caspase-like protease at D816...
September 25, 2018: Molecular Cell
Fei Xu, Xiaohong Ma, Yichen Wang, Yuan Tian, Wei Tang, Meng Wang, Ren Wei, Xinming Zhao
OBJECTIVE: To evaluate CT texture analysis as a tool to differentiate gastrointestinal stromal tumors (GISTs) without KIT exon 11 mutation. MATERIALS AND METHODS: This study consisted of a study group of 69 GISTs and a validation group of 17 GISTs. Clinical information of the patients were collected and analyzed. Two-dimensional and three-dimensional texture analysis was performed. The textural parameters were evaluated in the study group and were validated in the validation group...
October 2018: European Journal of Radiology
Jean-Benoît Le Luduec, Anupa Kudva, Jeanette E Boudreau, Katharine C Hsu
Allelic diversity of the KIR2DL receptors drive differential expression and ligand-binding affinities that impact natural killer cell function and patient outcomes for diverse cancers. We have developed a global intermediate resolution amplification-refractory mutation system (ARMS) PCR-SSP method for distinguishing functionally relevant subgroups of the KIR2DL receptors, as defined by phylogenetic study of the protein sequences. Use of the ARMS design makes the method reliable and usable as a kit, with all reactions utilizing the same conditions...
October 5, 2018: Scientific Reports
I Bure, F Haller, D V Zaletaev
Gastrointestinal stromal tumours are the most common mesenchymal tumours of the gastrointestinal tract. Despite similar mutation pattern of activating mutations in KIT or PDGFRA receptors in 85% of cases, they demonstrate significantly heterogeneous clinical behaviour and pathological characteristics. This heterogeneity opens the question of the role of other factors and mechanisms of regulation in the development of GIST. Additional mutations in downstream effectors of GIST related signalling pathways or aberrant expression of non-coding RNAs may be additional contributing factors, the latter being increasingly recognized in carcinogenesis in general...
October 4, 2018: Current Molecular Medicine
Lindsey Broussard, Amanda Howland, Sunhyo Ryu, Kyungsup Song, David Norris, Cheryl A Armstrong, Peter I Song
Over recent years, several new molecular and immunogenic therapeutic approaches to melanoma treatment have been approved and implemented in clinical practice. Mechanisms of resistance to these new therapies have become a major problem. Mutation-specific pharmacotherapy can result in simultaneous emergence of resistant clones at many separate body sites despite an initially positive therapeutic response. Additionally, treatments aimed at inducing apoptosis are subject to resistance due to escape through other known mechanisms of regulated cell death (RCD)...
September 2018: Chonnam Medical Journal
Jost von Hardenberg, Thomas S Worst, Niklas Westhoff, Philipp Erben, Stefan Fuxius, Markus Müller, Christian Bolenz, Christel Weiss, Elmar Heinrich
BACKGROUND: Aggressive variant transformation in metastatic castration-resistant prostate cancer (mCRPC) represents an under-recognized phenomenon. There is an urgent need for non-invasive biomarkers to detect these variants and identify treatment alternatives. METHODS: A prospective observational pilot study in mCRPC patients receiving treatment with cabazitaxel (CAB) was conducted. Neuromediators were sequentially evaluated and their impact on disease endpoints calculated...
2018: Oncology Research and Treatment
T F Jiang, J J Peng, H Zheng, X L Chen, W L Kong
Objective: To investigate the spectrum and incidence of the hot-spot deafness gene mutations of 277 patients with cochlear implantation in Sichuan province, and to provide information of the prevention and treatment for clinical application. Method: The data of the hotspot deafness gene mutations screening of 277 patients with cochlear implantation was analyzed retrospectively. A deafness related gene mutations detection kit was used to detect 9 mutation sites in four deafness-associated genes,including GJB2(35delG,176del16,235delC,299delAT), GJB3(538C>T),SLC26A4(2168A>G, IVS7-2A>G), Mitochondrial 12SrRNA(1494C>T, 1555A>G)...
August 5, 2018: Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery
Victor G Wang, Hyunsoo Kim, Jeffrey H Chuang
The Cancer Genome Atlas (TCGA) provides a genetic characterization of more than ten thousand tumors, enabling the discovery of novel driver mutations, molecular subtypes, and enticing drug targets across many histologies. Here we investigated why some mutations are common in particular cancer types but absent in others. As an example, we observed that the gene CCDC168 has no mutations in the stomach adenocarcinoma (STAD) cohort despite its common presence in other tumor types. Surprisingly, we found that the lack of called mutations was due to a systematic insufficiency in the number of sequencing reads in the STAD and other cohorts, as opposed to differential driver biology...
2018: PloS One
G N Wali, D Halliday, J Dua, E Ieremia, T McPherson, R N Matin
Gastrointestinal stromal tumours (GISTs) are mesenchymal tumours arising in the gastrointestinal tract. Early detection, before metastasis occurs, is important as complete surgical excision achieves cure. Approximately 85% of GISTs are associated with mutations in the KIT gene, and although the majority of GISTs are sporadic, familial GISTs have been identified. Several families with multiple GIST tumours have also been described with various cutaneous findings including hyperpigmentation, multiple lentigines, vitiligo and urticaria pigmentosa...
October 2, 2018: Clinical and Experimental Dermatology
Yudong Wang, Zhijie Wang, Sarina Piha-Paul, Filip Janku, Vivek Subbiah, Naiyi Shi, Kenneth Hess, Russell Broaddus, Baoen Shan, Aung Naing, David Hong, Apostolia M Tsimberidou, Daniel Karp, Charles Lu, Vali Papadimitrakopoulou, John Heymach, Funda Meric-Bernstam, Siqing Fu
KRAS and TP53 mutations, which are the most common genetic drivers of tumorigenesis, are still considered undruggable targets. Therefore, we analyzed these genetic aberrations in metastatic non-small cell lung cancer (NSCLC) for the development of potential therapeutics. One hundred eighty-five consecutive patients with metastatic NSCLC in a phase 1 trial center were included. Their genomic aberrations, clinical characteristics, survivals, and phase 1 trial therapies were analyzed. About 10%, 18%, 36%, and 36% of the patients had metastatic KRAS +/ TP53 +, KRAS +/ TP53 -, KRAS -/ TP53 +, and KRAS -/ TP53 - NSCLC, respectively...
September 7, 2018: Oncotarget
Joyce F Braam, Sebastian van Marm, Tim T Severs, Yevgeniy Belousov, Walt Mahoney, Johannes G Kusters
Patients infected by Mycoplasma genitalium are often treated empirically with the macrolide azithromycin. Macrolide resistance is becoming quite common; empirical treatment is compromised. Sequencing was initially used to detected azithromycin resistance-associated mutations. As this was laborious, qPCRs have been developed for their detection. In the present study, we describe a fast, sensitive, and specific qPCR assay that enables routine testing of M. genitalium and macrolide resistance-associated mutations in a single assay...
October 1, 2018: European Journal of Clinical Microbiology & Infectious Diseases
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