Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation by Rose H. Mende, David P. Drake, Raimos M. Olomi, Ben C. J. Hamel

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Erratum to “DNMT3A Mutations in Patients with Acute Myeloid Leukemia in South Brazil” by Annelise Pezzi, Lauro Moraes, Vanessa Valim, Bruna Amorin, Gabriela Melchiades, Fernanda Oliveira, Maria Aparecida da Silva, Ursula Matte, Maria S. Pombo-de-Oliveira, Rosane Bittencourt, Liane Daudt, Lucia Silla

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KRAS Mutation in Serous Borderline Tumor of the Testis: Report of a Case and Review of the Literature by Sarah Bouri, Jean-Christophe Noël, Xavier Catteau, Walid Al Hajj Obeid, Ilyas Svistakov, Thierry Roumeguère, Nicky D’Haene, Sandrine Rorive

“…The diagnosis of a serous borderline tumor of the testis was proposed. Mutation testing using next-generation sequencing showed a Q61K KRAS gene mutation. …”
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Mutations in the <i>A34R</i> gene increase the immunogenicity of vaccinia virus by S. N. Shchelkunov, T. V. Bauer, S. N. Yakubitskiy, A. A. Sergeev, A. S. Kabanov, S. A. Pyankov

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A Case Series on Cardiac and Skeletal Involvement in Two Families with PRKAG2 Mutations by Anita Sri, Piers Daubeney, Sanjay Prasad, John Baksi, Maria Kinali, Inga Voges

“…This case report demonstrates that the PRKAG2 mutation presents with various phenotypes already in pediatric patients. …”
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Population Genomics Reveals Elevated Inbreeding and Accumulation of Deleterious Mutations in White Raccoon Dogs by Yinping Tian, Yu Lin, Yue Ma, Jiayi Li, Sunil Kumar Sahu, Jiale Fan, Chen Lin, Zhiang Li, Minhui Shi, Fengping He, Lianduo Bai, Yuan Fu, Zhangwen Deng, Huabing Guo, Haimeng Li, Qiye Li, Yanchun Xu, Tianming Lan, Zhijun Hou, Yanling Xia, Shuhui Yang

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The Role of the Key Differentially Mutated Gene FGFR3 in the Immune Microenvironment of Bladder Cancer by Jun Jiang, Yan Zhan, Jun Li

“…We then identified differentially expressed genes (DEGs) and differentially mutated genes (DMGs) according to the high-stromal score cohort and low-stromal score cohort. …”
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De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome by Rafat Mosalli, Alfia Fatma, Mohammed A. Almatrafi, Mayada Mazroua, Bosco Paes

“…Pfeiffer syndrome (PS) is an autosomal dominant disorder with three subtypes stemming from heterozygous mutations in the fibroblast growth factors FGFR1 and FGFR2. …”
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Variable Presentation of the CYBB Mutation in One Family, Approach to Management, and a Review of the Literature by Tatyana Gavrilova, Ari Zelig, Diana H. Lee

“…This article describes a family with the CYBB mutation, its heterogenous presentation, and reviews the literature discussing disease management.…”
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Bateaux, plateaux, arsenaux : quels enjeux géopolitiques dans un Arctique en mutation ? by Frédéric Lasserre

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Colorectal cancer in Lynch syndrome families: consequences of gene germline mutations and the gut microbiota by Xuexin Wang, Zhijun Zheng, Dongliang Yu, Xiaojue Qiu, Ting Yang, Ruoran Li, Jing Liu, Xin Wang, Peng Jin, Jianqiu Sheng, Nan Qin, Na Li, Junfeng Xu

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Simulating the Emergence and Survival of Mutations Using a Self Regulating Multitype Branching Processes by Charles J. Mode, Towfique Raj, Candace K. Sleeman

“…It is difficult for an experimenter to study the emergence and survival of mutations, because mutations are rare events so that large experimental population must be maintained to ensure a reasonable chance that a mutation will be observed. …”
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Molecular identification of pfcytb, pfdhfr, and pvmrp1 mutations in imported malaria cases in Chile by Alan Oyarce, Lizbeth Huaccha, Esteban M. Cordero, Bárbara Parra, Jorge Fernández, Mario E. Soto-Marchant, Natalia T. Santis-Alay, María Isabel Jercic

“…All the genes analyzed had at least one mutation. In the pfdhfr gene, three mutations were observed (S108N/N51I/C59R). …”
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Decoding mutational signatures in breast cancer: Insights from a multi-cohort study by Margaux Betz, Andréa Witz, Julie Dardare, Cassandra Michel, Vincent Massard, Romain Boidot, Pauline Gilson, Jean-Louis Merlin, Alexandre Harlé

Subjects: “…Mutational signature…”
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LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient by Ivanka Dimova, Ivo Kremensky

“…Here we present a patient diagnosed postmortem as having early-onset LAMA2-related muscular dystrophy as a result of mutations in LAMA2, identified by Sanger sequencing in his parents: a novel nonsense mutation c.4452T>A in exon 31, identified in the mother, and a known pathogenic nonsense mutation c.2901C>A in exon 21, detected in the father. …”
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Cost-effectiveness of lazertinib as first-line treatment in patients with -mutated advanced lung cancer by Li-Jung Elizabeth Ku, Jui-Hung Tsai, Li-Jun Chen, Szu-Chun Yang

“…Background: Lazertinib demonstrates efficacy similar to that of osimertinib in the first-line treatment of epidermal growth factor receptor ( EGFR )-mutated advanced lung cancer. However, its cost-effectiveness has not yet been evaluated. …”
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Zellweger syndrome; identification of mutations in PEX19 and PEX26 gene in Saudi families by Abdulfatah M. Alayoubi, Ambreen Ijaz, Abdul Wali, Jamil A. Hashmi, Azizah Alharbi, Sulman Basit

“…Both variants were segregating in an autosomal recessive manner in the respective families.Conclusion The present study has added a novel nonsense mutation to the mutation spectrum of PEX19, which is the second null mutation identified to date. …”
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Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene by Amna Ahmed, Badr Alsaleem

“…JPS is most frequently caused by mutations in the SMAD4 or BMPR1A genes. Herein, we report a child with juvenile polyposis syndrome (JPS) with a novel mutation in the SMAD4 gene. …”
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Identification of β-globin gene mutations among transfusion-dependent β-thalassemia patients by Haidar Hussein Al-Fatlawi, Bassam Mahammad Hameed

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Trio-based whole-exome sequencing reveals mutations in early-onset high myopia by Ding Chen, Xiu-Feng Huang, Juan Huang, Yi-Ming Guo, Junhan Wei, Lu Ye, Yi-Xin Cai, Jiejing Bi, Fen-Fen Li

“…Pathogenic mutations were found in syndromic myopia genes, notably encompassing VPS13B, TRPM1, RPGR, NYX and RP2. …”
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