Identification of a Heterozygous Mutation in the TGFBI Gene in a Hui-Chinese Family with Corneal Dystrophy by Qin Xiang, Lamei Yuan, Yanna Cao, Hongbo Xu, Yunfeiyang Li, Hao Deng

“…The purpose of this study is to identify gene mutations in a three-generation Hui-Chinese family associated with granular corneal dystrophy type I (GCD1). …”
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Rare coinheritance of hemoglobin vancleave with severe beta-thalassemia mutation in a patient with secondary erythrocytosis by Nur Aisyah Aziz, Nurul Hidayah Musa, Melina Mathews, Komalah Thevii Rajenderan, Faidatul Syazlin Abdul Hamid, Syahzuwan Hassan, Syahira Lazira Omar, Wan Nurul Afiqha Binti Wan Yusoff, Melanie Ling Binti Mohd Din, Nurul Amira Binti Jamaludin, Wan Rohani Wan Taib, Ezalia Esa, Norafiza Mohd Yasin

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A novel UBA1 gene mutation in a patient with infantile respiratory distress syndrome by Masafumi Miyata, Arisa Kojima, Yuri Kawai, Hidetoshi Uchida, Hiroko Boda, Naoko Ishihara, Hidehito Inagaki, Tetsushi Yoshikawa, Hiroki Kurahashi

“…This missense mutation was located with the AAD (active adenylation domain) of the protein, a known hotspot of SMAX2 mutations. …”
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Permanence et mutations de l’élevage pastoral dans les Alpes du Sud by Laurent Garde, Marc Dimanche, Jacques Lasseur

“…La perception de la permanence d’une activité vue comme traditionnelle ne doit cependant pas occulter l’ampleur des mutations qui l’ont affecté dans le passé. À ce titre, la comparaison entre le bouleversement de grande ampleur qui a touché l’élevage pastoral à la fin du XIXe siècle, et le processus actuel de mutation dont on ignore encore l’aboutissement, est riche d’enseignements. …”
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Gene mutation in diabetic patients with lung adenocarcinoma: a real-world retrospective cohort study by Lei Yang, Yang Hong, TingTing Zeng, HongMei Yue, DePeng Jiang

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Frequency and Significance of Abnormal Pancreatic Imaging in Patients with BRCA1 and BRCA2 Genetic Mutations by Elie Chahla, Antonio Cheesman, Suzanne M. Mahon, Robert W. Garrett, Ben P. Bradenham, Theresa L. Schwartz, Louay Omran, Jason R. Taylor, Samer Alkaade

“…Our study aims to identify the abnormal pancreatic imaging findings in BRCA1 and BRCA2 mutation carriers. Methods. A retrospective review of patient medical records with known BRCA1 and BRCA2 mutations was conducted. …”
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Regard critique sur le relativisme éthique à une époque des mutations profondes by François TSHIONYI KAZADI

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Inferring effects of mutations on SARS-CoV-2 transmission from genomic surveillance data by Brian Lee, Ahmed Abdul Quadeer, Muhammad Saqib Sohail, Elizabeth Finney, Syed Faraz Ahmed, Matthew R. McKay, John P. Barton

“…Rapidly identifying mutations that affect transmission could improve our understanding of viral biology and highlight new variants that warrant further study. …”
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Effects of RARα ligand binding domain mutations on breast fibroepithelial tumor function and signaling by Xi Xiao Huang, Ley Moy Ng, Po-Hsien Lee, Peiyong Guan, Mun Juinn Chow, Aisyah Binte Mohamed Bashir, Meina Lau, Kenric Yi Shu Tan, Zhimei Li, Jason Yongsheng Chan, Jing Han Hong, Sheng Rong Ng, Tun Kiat Ko, Hong Lee Heng, Hsiang Ling Teo, Daniela Rhodes, Patrick Tan, Puay Hoon Tan, Donald P. McDonnell, Bin Tean Teh

“…These findings provide insights into how RARα mutations may contribute to tumorigenesis.…”
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The impact of KRAS mutations on the tumour microenvironment and treatment response in non-small cell lung cancer by Guomin Gu, Chunling Liu, Yan Yang, Yan Zhao, Xiaodan Zhu, Gang Sun

“…Mutations in the KRAS gene in non-small cell lung cancer (NSCLC) are common drivers. …”
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Overview of Prognosis of FLT3 Mutations and Interactions with Other Genetic Alterations in Acute Myeloid Leukemia by Ayşe Gül Bayrak Tokaç, Aynur Dağlar Aday

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Priapism in a Child from Homocystinuria from Methylenetetrahydrofolate Reductase MTHFR (C677T) Mutation by Ameer Kakaje, Ammar Fadel, Osama Hosam Aldeen, Othman Hamdan

“…Genetic testing for the homozygous MTHFR (C677T) mutation was later confirmed, and warfarin was indicated. …”
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Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation by Nivedita U. Jerath, Cameron D. Crockett, Steven A. Moore, Michael E. Shy, Conrad C. Weihl, Tsui-Fen Chou, Tiffany Grider, Michael A. Gonzalez, Stephan Zuchner, Andrea Swenson

“…Consistent with this, VCP mutations manifest variable clinical phenotypes among and within families and are a diagnostic challenge. …”
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Association of tumour mutation burden with prognosis and its clinical significance in stage III gastric cancer by Ya-Lin Han, Li Chen, Xu-Ning Wang, Mao-Lin Xu, Rui Qin, Fang-Ming Gong, Peng Sun, Hong-Yi Liu, Zhi-Peng Teng, Zhao-Xia Li, Guang-Hai Dai

Subjects: “…mutated genes…”
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In-depth characterization of miRNome in papillary thyroid cancer with BRAF V600E mutation by Azliana Mohamad Yusof, Francis Yew Fu Tieng, Rohaizak Muhammad, Shahrun Niza Abdullah Suhaimi, Isa Mohamed Rose, Sazuita Saidin, Rahman Jamal, Imilia Ismail, Nurul-Syakima Ab Mutalib

“…BRAF V600E is a hotspot mutation occurring in a majority of PTC cases and is proposed to be associated with poor clinical outcomes. …”
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Glycogen Storage Disease Type IX due to a Novel Mutation in PHKA2 Gene by Hamza Hassan Khan, Lauren Parr, Allison Jay, Saleem Raza, Hernando Lyons, Sanjay Kumar

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Mutation in CDC42 Gene Set as a Response Biomarker for Immune Checkpoint Inhibitor Therapy by Kun Wang, Yingying Zhang, Zhaoming Su, Bei Wang, Yuanyang Zhou, Xiaochu Tong, Chengying Xie, Xiaomin Luo, Sulin Zhang, Mingyue Zheng

“…Methods We consider CDC42 and its downstream binding and effector proteins as a gene set, as mutations in these components could lead to defective CDC42 function. …”
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Frequent mutation of K-RAS in addition to BRAF V600E in Ameloblastoma – An immunohistochemical study by Aishwariya Mohanty, Abikshyeet Panda, Pallavi Mishra, Lipsa Bhuyan, Harish Kumar

“…MAPK pathway are known to be active during tooth development, and also mutations in MAPK components have been identified in both benign and malignant tumors. …”
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Multi-modal investigation reveals pathogenic features of diverse DDX3X missense mutations. by Federica Mosti, Mariah L Hoye, Carla F Escobar-Tomlienovich, Debra L Silver

“…While clinically severe mutations impair neurogenesis, mild mutations have only a modest impact on cell fate. …”
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Identification of a Novel Primary Atopic Disorder due to STAT6 Gain-of-Function Mutations by Safa Barış, Talal A. Chatila

“…Herein, we detail a newly described IEI disorder due to gain-of-function mutations in STAT6 associated with severe allergic dysregulation. …”
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