MAP: Mutation Arranger for Defining Phenotype-Related Single-Nucleotide Variant by In-Pyo Baek, Yong-Bok Jeong, Seung-Hyun Jung, Yeun-Jun Chung

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Fulminant Disseminated Intravascular Coagulation as Initial Presentation of BRAF-Mutated Melanoma by Jeremy Chuang, An Uche, Rohan Gupta, Kim Margolin, Phyllis Kim

“…In this case report, we discuss a 33-year-old woman with BRAF V600E-mutated metastatic melanoma who presented in fulminant DIC with concurrent hemorrhagic and thrombotic manifestations and discuss the patient’s brief response to combination therapy. …”
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Case Report of RANBP2 Mutation and Familial Acute Necrotizing Encephalopathy by Mohamad Paktinat, Kamran Hessami, Soroor Inaloo, Hamid Nemati, Pegah Katibeh, Marzieh Nejabat, Mohammad Hassan Darabi, Ali Hosseini Bereshneh

“…We described three cases, two siblings and their cousin, affected by ANE, all of them exhibiting RAN-binding protein 2 (RANBP2) gene mutation. They all presented with seizure and decreased level of consciousness. …”
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Chromosomal Instability, Aneuploidy, and Gene Mutations in Human Sporadic Colorectal Adenomas by Beatriz Carvalho

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A Novel Mutation in the Adult-Onset Alexander’s Disease GFAP Gene by Dhillon B. Zaver, Nathan T. Douthit

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Localized variant of junctional epidermolysis bullosa with R795X mutation by Stefano Bighetti, Luca Bettolini, Sara Rovaris, Antonio Novelli, Paolo Incardona, Piergiacomo Calzavara-Pinton, Simone Caravello, Vincenzo Maione

“…Genetic analysis confirmed the presence of the COL17A1 variant p.Arg795Ter (R795X) mutation, establishing a rare, localized variant of JEB. …”
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Viral mimicry evasion: a new role for oncogenic KRAS mutations by Raymond Chen, Aobo He, Daniel D. De Carvalho

“…In a recent study, Zhou and colleagues identify KRAS, a frequently mutated oncogene, as a negative regulator of dsRNA and viral mimicry in an ICI‐resistant colorectal cancer model. …”
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Ensemble learning-based predictor for driver synonymous mutation with sequence representation. by Chuanmei Bi, Yong Shi, Junfeng Xia, Zhen Liang, Zhiqiang Wu, Kai Xu, Na Cheng

“…Synonymous mutations, once considered neutral, are now understood to have significant implications for a variety of diseases, particularly cancer. …”
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Cochleovestibular Phenotype in a Rare Genetic MED13L Mutation by Mariam Shahid, Mohamed Ahmed, Shivaram Avula, Soumit Dasgupta

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How to survive the mutational meltdown: lessons from plant RNA viruses by Lafforgue, Guillaume, Lefebvre, Marie, Michon, Thierry, Elena, Santiago F.

“…Muller's ratchet refers to the irreversible accumulation of deleterious mutations in small populations, resulting in a decline in overall fitness. …”
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Research Progress in Diseases Caused by STAT1 Gain-of-Function Mutations by LI Linpeng, MA Jing, GU Hao, SHU Zhou, MAO Huawei

Subjects: “…stat1 gain-of-function mutations…”
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Effect of lethal yellow (AY) mutation and photoperiod alterations on mouse behavior by E. Y. Bazhenova, D. V. Fursenko, N. V. Khotskin, I. E. Sorokin, A. V. Kulikov

“…The lethal yellow (AY) mutation causes ectopic expression of agouti protein in the brain. …”
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Marc Ferrez, un photographe témoin des mutations du Brésil by Confins

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Oncogenic RIT1 mutations confer ferroptosis vulnerability in lung adenocarcinoma by Ruilan Ma, Dian Yang, Peng Wang, Ziyi Zhang, Xuehong Zhang, Jialiang Song, Han Liu, Shuyan Liu, Yingqiu Zhang, Lijuan Zou

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Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach by Swati Chaturvedi, Ashok K. Singh, Amit K. Keshari, Siddhartha Maity, Srimanta Sarkar, Sudipta Saha

“…To sum up the causal factors of almost all the MED-associated disorders, we decided to embark on a less traveled but nonetheless relevant direction, by focusing our attention on associated gene family products, regulation of their expression, genetic mutation, and mutation types. In addition, the review also outlines the clinical presentations as well as diagnostic and therapeutic approaches.…”
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Serial Observations and Mutational Analysis of an Adoptee with Family History of Hypertrophic Cardiomyopathy by Bronwyn Harris, Jean P. Pfotenhauer, Cheri A. Silverstein, Larry W. Markham, Kim Schafer, Vernat J. Exil, Charles C. Hong

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A novel ALAS2 mutation causes congenital sideroblastic anemia by Kun Yang

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RNF43 Mutations in IPMN Cases: A Potential Prognostic Factor by Xiao Yan Chang, Yan Wu, Ying Jiang, Peng Yan Wang, Jie Chen

“…An intraductal papillary mucinous neoplasm (IPMN) is a common pancreatic precursor lesion, and it often harbors mutations in KRAS, GNAS, and RNF43. To clarify the molecular profiles of IPMNs, we conducted mutation analysis of KRAS, GNAS, and RNF43 in 61 IPMN formalin-fixed, paraffin-embedded (FFPE) specimens. …”
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The landscape of nucleotide diversity in Drosophila melanogaster is shaped by mutation rate variation by Barroso, Gustavo V, Dutheil, Julien Y

“…Here we present a new statistical method that jointly infers the genomic landscapes of genealogies, recombination rates and mutation rates. In doing so, our model captures the effects of genetic drift, linked selection and local mutation rates on patterns of genomic variation. …”
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De la vulnérabilité à la résilience : mutation ou bouleversement ? by Bruno Barroca, Maryline DiNardo, Irène Mboumoua

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