Relevance of Germline Mutation Screening in Both Familial and Sporadic Head and Neck Paraganglioma for Early Diagnosis and Clinical Management by Mario A. Hermsen, María A. Sevilla, José Luis Llorente, Marjan M. Weiss, Anneliese Grimbergen, Eva Allonca, Cristina Garcia-Inclán, Milagros Balbín, Carlos Suárez

“…Almost all familial and 11–29% of sporadic PGL are caused by inactivating germline mutations in succinate dehydrogenase (SDH) genes. Our aim was to screen for such mutations and to evaluate clinical parameters as predictors of germline mutation.…”
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Les marais salants brésiliens entre protection environnementale et pression foncière : un paysage en mutation by Vanessa Moura de Lacerda Teixeira

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A novel homozygous mutation of CFAP300 identified in a Chinese patient with primary ciliary dyskinesia and infertility by Zheng Zhou, Qi Qi, Wen-Hua Wang, Jie Dong, Juan-Juan Xu, Yu-Ming Feng, Zhi-Chuan Zou, Li Chen, Jin-Zhao Ma, Bing Yao

“…Bioinformatic programs predicted that the mutation is deleterious. Successful pregnancy was achieved through intracytoplasmic sperm injection (ICSI). …”
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Annotation-free deep learning for predicting gene mutations from whole slide images of acute myeloid leukemia by Bo-Han Wei, Xavier Cheng-Hong Tsai, Kuo-Jui Sun, Min-Yen Lo, Sheng-Yu Hung, Wen-Chien Chou, Hwei-Fang Tien, Hsin-An Hou, Chien-Yu Chen

“…We, therefore, propose a deep learning model based on multiple instance learning (MIL) with ensemble techniques to predict gene mutations from AML WSIs. Our model predicts NPM1 mutations and FLT3-ITD without requiring patch-level or cell-level annotations. …”
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Detection of the I172N Mutation in Cuban Patients with Congenital Adrenal Hyperplasia due to 21 Hydroxylase Insufficiency by Taimí Barrueta Ordóñez, Teresa Collazo Mesa, Paulina Lantigua Cruz, Adrián de Jesús González Navarro, Tania Espinosa Reyes

“…The variables analyzed were: age, social sex, age at diagnosis, clinical form of hyperplasia, diagnosis by screening program, family history, consanguinity, nonspecific neonatal death, genital crisis of the newborn, previous molecular diagnosis, mutations studied previously, mutation I172N gene CYP21A. …”
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Sex disparities in the association between rare earth elements exposure and genetic mutation frequencies in lung cancer patients by Mengyuan Liu, Jiali Zhang, Xiaohong Duan, Qiming Zhou, Jing Chen, Siyao Liu, Junyan Su, Li Han, Fan Yang, Niansong Qian

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X-linked Dyskeratosis Congenita Case with Mutation 1058C>T(p.Ala353Val) in Dyskerine Gene by Ayse Oktem, Pelin Kocyigit, Timur Tuncalı, Ulviyye Kahraman, Sumeyra Ozbolat

“…Here we report 7 years-old boy who had oral leukoplakia and nail abnormality without skin involvement, associated with bone marrow failure diagnosed with X-linked DC due to dyskerin (DKC1) mutation. Our report emphasizes the fact that clinical suspicion can prevent fatal consequences since all manifestations may not always be seen collectively.…”
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Protein C Deficiency Caused by a Novel Mutation in the PROC Gene in an Infant with Delayed Onset Purpura Fulminans by Mariam S. Al Harbi, Ayman W. El-Hattab

“…Autosomal dominant PCD is caused by monoallelic mutations in PROC and often presents with venous thromboembolism. …”
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Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease by Pankaj Thakur, Paul Speer, Aleksandar Rajkovic

“…A second, previously unreported de novo mutation, c.5909-2delA, was also identified. This mutation affects the canonical splice site and is most likely pathogenic. …”
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Mutations récentes, dynamiques actuelles et perspectives de transition des territoires ruraux périurbains en Tunisie by Nasser Rebaï, Johan Desbonnet, Hédi Rebei

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A mutation in RNA polymerase imparts resistance to β-lactams by preventing dysregulation of amino acid and nucleotide metabolism by Yesha Patel, John D. Helmann

“…Summary: Resistance to diverse antibiotics can result from mutations in RNA polymerase (RNAP), but the underlying mechanisms remain poorly understood. …”
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Developmental defects in ectodermal appendages caused by missense mutation in edaradd gene in the nfr mangrove killifish kryptolebias marmoratus by Hussein A. Saud, Paul A. O’Neill, Brian C. Ring, Tetsuhiro Kudoh

“…Abstract The mangrove killifish, Kryptolebias marmoratus, can reproduce with self-fertilisation, offering a unique and useful genetic tool for generation of genetic mutants and quick identification of mutated genes. From an ENU-mutated mangrove killifish line R228, we have isolated a novel mutant line, no-fin-ray/nfr in which homozygous mutant of adult fish fin ray development is largely reduced. …”
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The potential of MRI radiomics based on extrapulmonary metastases in predicting EGFR mutations: a systematic review and meta-analysis by Linyong Wu, Dayou Wei, Songhua Li, Shaofeng Wu, Yan Lin, Lifei Chen

“…Abstract Background Epidermal growth factor receptor (EGFR) gene mutations can lead to distant metastasis in non-small cell lung cancer (NSCLC). …”
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Three MYO15A Mutations Identified in One Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss by Fengguo Zhang, Lei Xu, Yun Xiao, Jianfeng Li, Xiaohui Bai, Haibo Wang

“…They were concluded to be pathogenic mutations by phylogenetic analysis and structure modeling. …”
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TERT de novo mutation-associated dyskeratosis congenita and porto-sinusoidal vascular disease: a case report by Ge Yu, Guijie Xin, Xu Liu, Wanyu Li, Chen Shao, Runping Gao

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Knockdown-resistant mutations in head lice (Pediculus humanus capitis) collected from schoolchildren in Riyadh, Saudi Arabia by Imtinan H. Alghashmari, Noha T. Zelai

“…The aim of this study is to evaluate the frequency of pyrethroid-resistant mutations in Riyadh City, Saudi Arabia. To do that, Sanger sequencing was employed to find the frequency of mutated alleles in the voltage-sensitive sodium channel gene (VSSC). …”
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A Novel Myosin Essential Light Chain Mutation Causes Hypertrophic Cardiomyopathy with Late Onset and Low Expressivity by Paal Skytt Andersen, Paula Louise Hedley, Stephen P. Page, Petros Syrris, Johanna Catharina Moolman-Smook, William John McKenna, Perry Mark Elliott, Michael Christiansen

“…Hypertrophic cardiomyopathy (HCM) is caused by mutations in genes encoding sarcomere proteins. Mutations in MYL3, encoding the essential light chain of myosin, are rare and have been associated with sudden death. …”
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Esophageal squamous cell carcinoma with EP300 mutations displays distinct genetic characteristics relevant to neoadjuvant chemoradiotherapy by Yutian Lai, Yingxian Dong, Long Tian, Hongjun Li, Xinyi Ye, Yang Hu

“…Abstract Background EP300 mutation is common in esophageal squamous cell carcinoma (ESCC). …”
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Durvalumab, Tremelimumab, and Platinum Chemotherapy in EGFR Mutation–Positive NSCLC: An Open-Label Phase 2 Trial (ILLUMINATE) by Chee Khoon Lee, PhD, Bin-Chi Liao, MD, Shalini Subramaniam, MMed (Clin Epi), Chao-Hua Chiu, MD, Antony J. Mersiades, MMed (Clin Epi), Chao-Chi Ho, MD, PhD, Chris Brown, MBiostats, Chun-Liang Lai, MD, PhD, Brett G.M. Hughes, M.B.B.S. (Hons), Tsung-Ying Yang, MD, PhD, Ken O’Byrne, MD, Yung-Hung Luo, MD, PhD, Sonia Yip, PhD, Ching-Liang Ho, MD, Victoria Bray, PhD, Wu-Chou Su, MD, PhD, Melissa Moore, PhD, Wei-Lien Feng, MS, Ya-Ying Bai, MS, Kate Ford, MHSc, Michelle M. Cummins, PhD, Martin R. Stockler, MSc (Clin Epi), Benjamin J. Solomon, PhD, Thomas John, PhD, James Chih-Hsin Yang, MD, PhD

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Molecular Patterns of MEFV Gene Mutations in Egyptian Patients with Familial Mediterranean Fever: A Retrospective Cohort Study by Amal R. Mansour, Ayman El-Shayeb, Nihal El Habachi, Mohamad A. Khodair, Doaa Elwazzan, Nermeen Abdeen, Marwa Said, Riham Ebaid, Noha ElShahawy, Amr Seif, Nadia Zaki

“…FMF is associated with a broad mutational spectrum in this gene. Certain mutations are more common in particular ethnic groups. …”
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