Whole exome sequencing enables the correct diagnosis of Frank–Ter Haar syndrome in a Saudi family by Y. N. Khan, M. Imad A.M. Mahmud, N. Othman, H. M. Radzuan, S. Basit

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Oligogenic effect is associated with the clinical heterogeneity of autosomal dominant deafness-15 by Jianyan Pan, Hua Teng, Fang Liu, Siyi Chen, Yaning Liu, Yanling Teng, Desheng Liang, Zhuo Li, Lingqian Wu

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TMBocelot: an omnibus statistical control model optimizing the TMB thresholds with systematic measurement errors by Xin Lai, Shaoliang Wang, Xuanping Zhang, Xiaoyan Zhu, Yuqian Liu, Zhili Chang, Zhili Chang, Xiaonan Wang, Xiaonan Wang, Yang Shao, Yang Shao, Jiayin Wang, Yixuan Wang

Subjects: “…tumor mutation burden…”
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Molecular mechanisms impact on fluoroquinolone resistance among E.coli from enteric carriage monitoring before prostate biopsy and earliest description of qnrB81 by Rehaiem Amel, Bouzouita Abderrazek, Ferjani Sana, Saadi Ahmed, Zrelli Mariem, Kanzari Lamia, Ferjani Asma, Mohamed Riadh Ben Slama, Boutiba Ben Boubaker Ilhem

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Hybrid Harmony Search Algorithm Integrating Differential Evolution and Lévy Flight for Engineering Optimization by Feng Qin, Azlan Mohd Zain, Kai-Qing Zhou, Norfadzlan Bin Yusup, Didik Dwi Prasetya, Rozita Abdul Jalil, Zaheera Zainal Abidin, Mahadi Bahari, Yusri Kamin, Mazlina Abdul Majid

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Resistance-Associated Substitutions (RAS) and Clinical Factors as Determinants of Sofosbuvir-Daclatasvir Treatment Outcomes in Chronic Hepatitis C Patients by Juferdy Kurniawan, Anugrah Dwi Handayu, Gita Aprilicia, Darlene Raudhatul Bahri, Irsan Hasan

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Access to Diagnostics and Treatment for People With Metastatic EGFR-Positive NSCLC: Lessons From Project PRIORITY by Jill Feldman, MA, Ivy Elkins, MBA, Zofia Piotrowska, MD, Bellinda L. King-Kallimanis, PhD, Tendai Chihuri, MD, Carly Johnson, BS, Alecia Clary, PhD, Teri Kennedy, MA, Upal Basu Roy, PhD, MPH

Subjects: “…EGFR mutation…”
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Applications of MR Finger printing derived T1 and T2 values in Adult brain: A Systematic review [version 1; peer review: 2 approved] by Rajagopal Kadavigere, Obhuli Chandran M, Kaushik Nayak, Abhijith S, Saikiran Pendem, Varsha Raghu, Shailesh Nayak S, Riyan Mohamed Sajer, Tancia Pires, Priyanka -

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Variation of fatty acid composition in seed oil in the collection of induced oil flax (Linum humile Mill.) mutants by A. V. Tigova, A. I. Soroka

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Generation of a human induced pluripotent stem cell (iPSC) line ERPLi004-A from an Alpha-1 antitrypsin deficiency (AATD) patient with SERPINA1 mutation by Harshini Surendran, Rajani Battu, Renjitha Gopurappilly, Chethala N. Vishnuprasad, Rajarshi Pal

“…The risk of developing lung emphysema, chronic obstructive pulmonary disorder and liver cirrhosis is observed in >75 % people affected with a homozygous mutation. Here, we describe the generation of an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMC) isolated from a AATD patient using non viral and non-integrating episomal vectors. …”
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Detection of I491F and V170F rpoB mutations associated with misdiagnosis of rifampicin resistance among patients with drug-susceptible tuberculosis treatment failure, Myanmar, 2022 by Phyu Win Ei, Mi Mi Htwe, Myat Htut Nyunt, Aye Su Mon, Zaw Myint, Wint Wint Nyunt, Su Mon Win, Sandar Aung, Wai Myat Thwe, Wah Wah Aung

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Case report: A case report and literature review on the efficacy of high-dose aumolertinib combined intrathecal pemetrexed by Ommaya reservoir for EGFR-mutated NSCLC with leptomeningeal metastasis as the initial symptoms by Maoxi Zhong, Maoxi Zhong, Maoxi Zhong, Li Zhou, Li Zhou, Li Zhou, Jing Guo, Jing Guo, Jing Guo, Chuan Chen, Chuan Chen, Chuan Chen, Wei Wang, Wei Wang, Wei Wang, Xiaoping Huang, Xiaoping Huang, Xiaoping Huang, Yi Liu, Yi Liu, Yi Liu

“…Here we present a case report of an EGFR-mutated NSCLC patient who presented with LM as the primary clinical manifestation, and review the latest advances in existing studies on LM-related treatment. …”
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Construction of feature selection and efficacy prediction model for transformation therapy of locally advanced pancreatic cancer based on CT, 18F-FDG PET/CT, DNA mutation, and CA199 by Liang Qi, Xiang Li, Jiayao Ni, Yali Du, Qing Gu, Baorui Liu, Jian He, Juan Du

“…Among them, 65 patients had efficacy evaluation results after 4 treatment cycles, 54 patients had complete baseline PET/CT images, 51 patients had complete DNA mutation detection results, and 34 patients had both complete PET/CT images and DNA mutation detection results. …”
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Combined mutations in nonstructural protein 14, envelope, and membrane proteins mitigate the neuropathogenicity of SARS-CoV-2 Omicron BA.1 in K18-hACE2 mice by Kotou Sangare, Shufeng Liu, Prabhuanand Selvaraj, Charles B. Stauft, Matthew F. Starost, Tony T. Wang

“…Here, we assessed the pathogenicity of SARS-CoV-2 (WA1/2020) containing mutations from the Omicron BA.1 variant in K18-hACE2 mice. …”
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Clinical Features and Genetic Characteristics of XLID Patients With KDM5C Gene Mutations: Insights on Phenotype–Genotype Correlations From 175 Previous Cases and Identification of a Novel Variant by Mohammad‐Reza Ghasemi, Zahra Esmaeilizadeh, Sahand Tehrani Fateh, Hossein Sadeghi, Saman Bagheri, Farzad Hashemi‐Gorji, Morteza Sheikhi Nooshabadi, Rasoul Madannezhad, Toktam Sadat Tavabe Ghavami, Reza Mirfakhraie, Mohammad Miryounesi

“…This study aimed to identify novel variants associated with XLID and to investigate the clinical and genetic characteristics of XLID patients with mutations in the KDM5C gene. This study also conducted a narrative review of the literature to identify key clinical and genetic characteristics of XLID caused by mutations in the KDM5C gene. …”
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EBV-Negative Monomorphic B-Cell Posttransplant Lymphoproliferative Disorder with Marked Morphologic Pleomorphism and Pathogenic Mutations in ASXL1, BCOR, CDKN2A, NF1, and TP53 by Agata M. Bogusz

“…Next-generation sequencing studies (NGS) revealed numerous genetic alterations including 6 pathogenic mutations in ASXL1, BCOR, CDKN2A, NF1, and TP53(x2) genes and 30 variants of unknown significance (VOUS) in ABL1, ASXL1, ATM, BCOR, BCORL1, BRNIP3, CDH2, CDKN2A, DNMT3A, ETV6, EZH2, FBXW7, KIT, NF1, RUNX1, SETPB1, SF1, SMC1A, STAG2, TET2, TP53, and U2AF2.…”
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Corrigendum to “Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 Gene” by Shigeru Makino, Toshihiro Tajima, Jun Shinozuka, Aki Ikumi, Hitoshi Awaguni, Shin-ichiro Tanaka, Rikken Maruyama, Shinsaku Imashuku

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Derivation of induced pluripotent stem cell TUSMi013-A from a 66-year-old Chinese Han Parkinson’s disease patient carrying VPS13C and TBP mutations by Can Cui, Jian Chen, Hao Shen, Bei Zhang

“…The present study was designed to establish an iPSC line, designated TUSMi013-A, from the dermal fibroblasts of a 66-year-old female afflicted with PD, harboring mutations in VPS13C and TBP. This iPSC line offers a significant resource for the dissection of PD etiology and the innovation of novel therapeutic strategies.…”
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Effect of Interferon-γ on the Basal and the TNFα-Stimulated Secretion of CXCL8 in Thyroid Cancer Cell Lines Bearing Either the RET/PTC Rearrangement Or the BRAF V600e Mutation by Mario Rotondi, Francesca Coperchini, Oriana Awwad, Patrizia Pignatti, Christian A. Di Buduo, Vittorio Abbonante, Flavia Magri, Alessandra Balduini, Luca Chiovato

“…These results constitute the first demonstration that IFNγ inhibits CXCL8 secretion and in turn the migration of a BRAF V600e mutated thyroid cell line.…”
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46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation of CYP17A1 Gene: Consequences of Late Diagnosis by Giampaolo Papi, Rosa Maria Paragliola, Paola Concolino, Carlo Di Donato, Alfredo Pontecorvi, Salvatore Maria Corsello

“…Deficiency of 17α-hydroxylase/17,20-lyase due to a homozygous CYP17A1 gene mutation was the underlying cause. Laboratory, imaging, and genetic features are herein reported and discussed.…”
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