Combination of Dabrafenib and Trametinib for the Treatment of Relapsed and Refractory Multiple Myeloma Harboring BRAF V600E Mutation by Rūta Čepulytė, Andrius Žučenka, Valdas Pečeliūnas

“…New therapies, including BRAF V600E mutation targeting, may become a new treatment option for R/R MM. …”
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ARV1 p.Gln62Ter, a novel mutation linked to developmental and epileptic encephalopathy-38 by Mostafa Neissi, Ayoob Radhi Al-Zaalan, Misagh Mohammadi-Asl, Mojdeh Roghani, Javad Mohammadi-Asl, Kamele Jorfi

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Clinical Diagnosis of X-Linked Spondyloepiphyseal Dysplasia Tarda and a Novel Missense Mutation in the Sedlin Gene (SEDL) by Lei Kong, Dongxu Wang, Shanshan Li, Chengsheng Zhang, Xiuyun Jiang, Qingbo Guan, Zhenlin Zhang, Fei Jing, Jin Xu

“…In addition, no mutation was found in the other members of the family. …”
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La 44e élection présidentielle :un événement révélateur des mutations de la société américaine by Cynthia Ghorra-Gobin

“…La 44e élection présidentielle américaine n’est pas un simple événement d’actualité mais un moment de la scène politique américaine qui condense et rend compte de manière significative des mutations de la société. C’est dans cette perspective que s’inscrit ce premier texte rédigé au moment où les deux partis politiques (au travers des délégués) ont désigné leur candidat après une série d’élections qui se sont déroulé dans les Etats de la fédération. …”
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Loss of MEF2C function by enhancer mutation leads to neuronal mitochondria dysfunction and motor deficits in mice by Ali Yousefian-Jazi, Suhyun Kim, Jiyeon Chu, Seung-Hye Choi, Phuong Thi Thanh Nguyen, Uiyeol Park, Min-gyeong Kim, Hongik Hwang, Kyungeun Lee, Yeyun Kim, Seung Jae Hyeon, Hyewhon Rhim, Hannah L. Ryu, Grewo Lim, Thor D. Stein, Kayeong Lim, Hoon Ryu, Junghee Lee

“…However, the mechanism behind genetic mutations in the non-coding region of genes that affect epigenetic modifications remains unclear. …”
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Wnt/ β-catenin and CTNNB1 gene mutation in hepatocellular carcinoma, a case study in Egyptian patients by Ramy A. Abdelsalam, Ibrahim M. El-Shawaf, Azza Abdel-Aziz, Tarek A. Bismar, Shaimaa M. Yussif

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A Novel Nonsense Mutation of POU4F3 Gene Causes Autosomal Dominant Hearing Loss by Chi Zhang, Mingming Wang, Yun Xiao, Fengguo Zhang, Yicui Zhou, Jianfeng Li, Qingyin Zheng, Xiaohui Bai, Haibo Wang

“…In this study, we describe a pathogenic nonsense mutation located in POU4F3 in a four-generation Chinese family. …”
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IQUB mutation induces radial spoke 1 deficiency causing asthenozoospermia with normal sperm morphology in humans and mice by Tingwenyi Hu, Xiangrong Tang, Tiechao Ruan, Shunhua Long, Guicen Liu, Jing Ma, Xueqi Li, Ruoxuan Zhang, Guoning Huang, Ying Shen, Tingting Lin

“…Methods We recruited a cohort of 323 infertile males with ASZ between August 2019 and June 2024. Genetic mutations were identified by whole-exome sequencing. …”
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Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy by Wiktoria Radziwonik-Frączyk, Ewelina Elert-Dobkowska, Jolanta Kubalska, Iwona Stępniak, Marta Lipowska, Anna Potulska-Chromik, Anna Sułek

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Evidence that a STAT3 Mutation Causing Hyper IgE Syndrome Leads to Repression of Transcriptional Activity by Sameer Bahal, Maha E. Houssen, Ania Manson, Lorena Lorenzo, Mark A. Russell, Noel G. Morgan, Fariba Tahami, Sofia Grigoriadou

“…This is consistent with other reported mutations in STAT3 associated with HIES. However, surprisingly, the magnitude of inhibition was similar to another STAT3 mutation (V637M) which causes a much more severe form of the disease.…”
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Erratum to “The Role of KRAS Mutational Analysis to Determine the Site of Origin of Metastatic Carcinoma to the Lung: A Case Report” by Ahmad Alkhasawneh, Hui-Jia Dong, Chen Liu, Carmen Allegra, Robert W. Allan

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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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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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