STK11 mutation affects tumor proliferation by impacting CD4+ T cell activity in lung adenocarcinoma by Jiemeng Ge, Rui Feng, Feihu Zhu, Zhihui Xu, Qiangwei Chi, Zhenye Lv

Subjects: “…stk11 mutation…”
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Case report: Discovery of novel CTNNB1 mutations and comparison of clinical characteristics in two patients with NEDSDV by Eojin Lee, Ja Young Choi, Shin-Seung Yang

“…The identified novel frameshift variant expands the mutational spectrum of CTNNB1.…”
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Tumor mutational burden and survival on immune checkpoint inhibition in >8000 patients across 24 cancer types by Vivek Subbiah, Samuel J Klempner, Neeraj Agarwal, David P Carbone, Amit Mahipal, Shilpa Gupta, David Fabrizio, Jeffrey S Ross, Gerald Li, David R Gandara, Miles C Andrews, Jonathan W Riess, Ramez N Eskander, Ryon P Graf, Geoffrey R Oxnard, Sarah Sammons, Jeremy Snider, Lilia Bouzit, Cheryl Cho-Phan, Megan Price, Julia C F Quintanilha, Richard Sheng Poe Huang

“…Background There is uncertainty around clinical applicability of tumor mutational burden (TMB) across cancer types, in part because of inconsistency between TMB measurements from different platforms. …”
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Prevalence of Drug Resistance and Associated Mutations in a Population of HIV-1+ Puerto Ricans: 2006–2010 by Lycely del C. Sepúlveda-Torres, Alexandra De La Rosa, Luz Cumba, Nawal Boukli, Eddy Ríos-Olivares, Luis A. Cubano

“…M184V and L63P were the dominant mutations for the reverse transcriptase and the protease genes, respectively, but an increase in the incidence of minority mutations was observed.…”
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Titin gene mutations enhance radiotherapy efficacy via modulation of tumour immune microenvironment in rectum adenocarcinoma by Hengchang Liu, Jialiang Liu, Xu Guan, Zhixun Zhao, Pu Cheng, Haipeng Chen, Zheng Jiang, Xishan Wang

“…Bioinformatics analysis explored the correlation between TTN mutations and immune cell infiltration. In vitro, lentiviral vectors were used to assess TTN mutations' effects on ANKRD1 expression in two READ cell lines. …”
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A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome by M. A. Ramirez-Garcia, O. F. Chacon-Camacho, C. Leyva-Hernandez, A. Cardenas-Conejo, J. C. Zenteno

“…Our results expand the mutational spectrum exposed by CNFS.…”
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The Alpaca Melanocortin 1 Receptor: Gene Mutations, Transcripts, and Relative Levels of Expression in Ventral Skin Biopsies by Bathrachalam Chandramohan, Carlo Renieri, Vincenzo La Manna, Antonietta La Terza

“…Further sequencing of the MC1R gene in white and colored alpaca identified a total of twelve SNPs; among those nine (four silent mutations (c.126C>A, c.354T>C, c.618G>A, and c.933G>A); five missense mutations (c.82A>G, c.92C>T, c.259A>G, c.376A>G, and c.901C>T)) were observed in coding region and three in the 3′UTR. …”
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The Role of KRAS Mutational Analysis to Determine the Site of Origin of Metastatic Carcinoma to the Lung: A Case Report by Ahmed N. Alkhasawneh, Hui-Jia Dong, Chen Liu, Carmen Allegra, Robert W. Allan

“…In this case, we used KRAS gene mutation analysis to support that the lung carcinoma represented a metastatic pancreatic carcinoma as they both possessed identical codon 12 KRAS mutations. …”
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Clinical Image: Avascular necrosis of the femoral head driven by the COL2A1 gene mutation by Ran Cui, Xin‐Yu Song, Hong Zhang, Sheng‐Ming Dai

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Screening of West Siberian patients with primary congenital glaucoma for CYP1B1 gene mutations by D. E. Ivanoshchuk, S. V. Mikhailova, O. G. Fenkova, E. V. Shakhtshneider, A. Z. Fursova, I. V. Bychkov, M. I. Voevoda

“…None of the detected mutations were found in the control sample of ophthalmologically examined individuals without PCG (100 people). …”
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LRRK2 Mutations and Asian Disease-Associated Variants in the First Parkinson’s Disease Cohort from Kazakhstan by Rauan Kaiyrzhanov, Akbota Aitkulova, Chingiz Shashkin, Nazira Zharkinbekova, Mie Rizig, Elena Zholdybayeva, Zharkyn Jarmukhanov, Vadim Akhmetzhanov, Gulnaz Kaishibayeva, Talgat Khaibullin, Altynay Karimova, Serik Akshulakov, Askhat Bralov, Nurlan Kissamedenov, Zhanar Seidinova, Anjela Taskinbayeva, Aliya Muratbaikyzy, Henry Houlden

“…Background. LRRK2 mutations have emerged as the most prevalent and potentially treatable determinants of Parkinson’s disease (PD). …”
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Brief report: impact of consolidation durvalumab on unresectable non-small cell lung cancer with driver mutations by Jason C.S. Ho, K.M. Cheung

“…Among the 123 patients who underwent definitive chemoradiation, 33 had common driver mutations, including EGFR mutations, ALK rearrangements, ROS1 rearrangements, and RET fusions. …”
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Co-isolation of human donor eye cells and development of oncogene-mutated melanocytes to study uveal melanoma by Yunxi Chen, Eva Jin, Mohamed Abdouh, Éric Bonneil, Daniel Alexander Jimenez Cruz, Thupten Tsering, Qianqian Zhou, Aurélie Fuentes-Rodriguez, Alexandra Bartolomucci, Alicia Goyeneche, Solange Landreville, Miguel N. Burnier, Julia V. Burnier

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The Novel CFTR Mutation A457P in a Male with a Delayed Diagnosis of Cystic Fibrosis by Kate H. Cole, Patrick R. Sosnay, Lonny B. Yarmus, Jonathan B. Zuckerman

“…Cystic fibrosis (CF) is an autosomal recessive disease that may be caused by more than 1000 different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. …”
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Prostate Cancer in a Male with Holt-Oram Syndrome: First Clinical Association of the TBX5 Mutation by Noel J. Aherne, Guhan Rangaswamy, Pierre Thirion

“…Holt-Oram syndrome is an autosomal dominant disorder which is caused by mutations of TBX5 and is characterised by cardiac and skeletal abnormalities. …”
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Genotoxicity Assessment of Multispecies Probiotics Using Reverse Mutation, Mammalian Chromosomal Aberration, and Rodent Micronucleus Tests by Yi-Jen Chiu, Mun-Kit Nam, Yueh-Ting Tsai, Chun-Chi Huang, Cheng-Chih Tsai

“…For 5 strains of Salmonella Typhimurium, the Ames tests show no increased reverse mutation upon exposure to the test substance. In CHO cells, the frequency of chromosome aberration does not increase in responding to the treatment of probiotics. …”
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Gene Mutation and Its Association with Clinicopathological Features in Young Patients with Non-Small-Cell Lung Cancer by Wencui Kong, Zongyang Yu, Wenwu Wang, Jingrong Yang, Jingfang Wang, Zhongquan Zhao

“…In young NSCLC patients, adenocarcinoma is the major histology (86.9%), and the misdiagnosis rate was as high as 45.7%. EGFR gene mutation was found in 13 patients (31.7%) and common mutations were with EGFR19del mutation (7 cases, 17.1%) and EGFR21L858R mutation (4 patients, 9.7%). …”
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A Mutation in DAOA Modifies the Age of Onset in PSEN1 E280A Alzheimer’s Disease by Jorge I. Vélez, Dora Rivera, Claudio A. Mastronardi, Hardip R. Patel, Carlos Tobón, Andrés Villegas, Yeping Cai, Simon Easteal, Francisco Lopera, Mauricio Arcos-Burgos

“…Nominal associations of missense mutations in the CLUAP1 (rs9790, P = 7.63 × 10−3, PFDR = 0.1832) and EXOC2 (rs17136239, P = 0.0325, PFDR = 0.391) genes were also found. …”
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A Rare Co-Occurrence of Triple Mutations in JAK2, CALR, and MPL in the Same Patient with Myelofibrosis by Sherine J. Thomas, D. P. Dash

“…The diagnosis and prognostication of myeloproliferative neoplasm rely on the presence of driver mutations in JAK2, calreticulin (CALR), and MPL mutations. …”
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Structural Predictive Model of Presenilin-2 Protein and Analysis of Structural Effects of Familial Alzheimer’s Disease Mutations by Alejandro Soto-Ospina, Pedronel Araque Marín, Gabriel de Jesús Bedoya, Andrés Villegas Lanau

“…For the simulation, four reported mutations are chosen, which are Met239Ile, Met239Val, Ser130Leu, and Thr122Arg, all associated with various functional responses. …”
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