Pleuropulmonary Blastoma (PPB) in Child with DICER1 Mutation: The First Case Report in the State of Qatar by Sara G. Hamad, Amal Al-Naimi, Mutasim Abu-Hasan

“…PPB has strong genetic association with mutations in DICER1 gene. Despite being rare, PPB is the most common lung tumor in children below 6 years of age. …”
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Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T by Holli M. Drendel, Jason E. Pike, Katherine Schumacher, Karen Ouyang, Jing Wang, Mary Stuy, Stephen Dlouhy, Shaochun Bai

“…Here we report the finding of a novel missense mutation, c.1052C>T (p.Thr326Ile), in the ACADM gene. …”
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A Y178C rhodopsin mutation causes aggregation and comparatively severe retinal degeneration by Sreelakshmi Vasudevan, Paul S.–H. Park

“…The mechanism by which these mutations cause photoreceptor cell death, and the role aggregation plays in this process is still unclear. …”
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Role of Bone Marrow-Derived Stem Cells in Polyps Development in Mice with ApcMin/+ Mutation by Michele Barone, Maria Principia Scavo, Raffaele Licinio, Michele Piombino, Nicola De Tullio, Rosanna Mallamaci, Alfredo Di Leo

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Association between the rifampicin resistance mutations and rifabutin susceptibility in Mycobacterium tuberculosis: A meta-analysis by Wenli Wang, Hongjuan Zhou, Long Cai, Tingting Yang

Subjects: “…Rifampicin resistance mutation…”
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Mice infected with M. tuberculosis with Rv0678 mutations still benefit from bedaquiline treatment by N. Lounis, T. Gevers, C. Villellas, K. Andries

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Identification of a Mutation in the Novel Compound Heterozygous CFTR in a Chinese Family with Cystic Fibrosis by Hongxia Shao, Jingna Hua, Qi Wu, Xiaoge Li, Ming Zhang, Herong Wang, Junping Wu, Long Xu, Yi Xie, Li Li, Huaiyong Chen

“…Objectives. To elucidate the mutation in the novel compound heterozygous CFTR causing CF in Chinese family. …”
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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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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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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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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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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 Non-V600E BRAF Mutation in Papillary Thyroid Cancer by Marco Capezzone, Maja Rossi, Elisabetta Macerola, Silvia Cantara, Francesco Pepe, Eugenia Maria Morabito, Gilda Dalmazio, Sara Bardi, Agostino Ognibene, Massimo Alessandri, Gabriele Materazzi, Luigi De Napoli, Michele Cirianni, Liborio Torregrossa

“…Papillary thyroid cancer (PTC) is a common endocrine malignancy, and its incidence is reported to be constantly increasing. BRAF mutation is detected in approximately 44% of PTCs, and the most common BRAF mutation is thymine (T) to adenine (A) missense mutation in nucleotide 1796 (T1796A, V600E). …”
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High-Resolution Imaging of Patients with Bietti Crystalline Dystrophy with CYP4V2 Mutation by Kiyoko Gocho, Shuhei Kameya, Keiichiro Akeo, Sachiko Kikuchi, Ayumi Usui, Kunihiko Yamaki, Takaaki Hayashi, Hiroshi Tsuneoka, Atsushi Mizota, Hiroshi Takahashi

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