Hyperbaric Oxygen Therapy in Branch Retinal Artery Occlusion in a 15-Year-Old Boy with Methylenetetrahydrofolate Reductase Mutation by Ali Riza Cenk Celebi, Sibel Kadayifcilar, Bora Eldem

“…Laboratory evaluation disclosed hyperhomocysteinemia and methylenetetrahydrofolate reductase (MTHFR) mutation. The visual acuity 0.05 at presentation improved to 0.8 after 20 days of HBO therapy. …”
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Ductal Carcinoma In Situ (DCIS) Diagnosed by MRI-Guided Biopsy among BRCA1/BRCA2 Mutation Carriers by Renata Faermann, Eitan Friedman, Orit Kaidar-Person, Jonathan Weidenfeld, Malka Brodsky, Anat Shalmon, Osnat Halshtok Neiman, Michael Gotlieb, Yael Yagil, David Samoocha, Dana Madorsky Feldman, Miri Sklair-Levy

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Effects of D128N Mutation on OsSERK2 in Xa21-Mediated Immune Complex: An In Silico Study by Raghib Ishraq Alvy, M. H. M. Mubassir, Mohd Firdaus Abdul-Wahab, Salehhuddin Hamdan

“…This study focuses on the effect of a substitution mutation of aspartate128 with asparagine128 (D128N) in OsSERK2 on the interdependent binding pattern of the Xa21, RaxX21-sY, and OsSERK2 D128N proteins. …”
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Mutation analysis of SHP2, SOS1, and SOS2 related to dysregulation of Ras/MAPK pathway in Noonan syndrome by Nihayatul Karimah

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Utilizing TP53 hotspot mutations as effective predictors of gemcitabine treatment outcome in non-small-cell lung cancer by Yen-Han Tseng, Trieu Thi My Tran, Jinghua Tsai Chang, Yu-Tang Huang, Anh Thuc Nguyen, Ian Yi‑Feng Chang, Yi-Tung Chen, Hao-Wen Hsieh, Yue-Li Juang, Peter Mu-Hsin Chang, Tzu-Yi Huang, Ying-Chih Chang, Yuh-Min Chen, Hsuan Liu, Chi-Ying F. Huang

“…Abstract TP53 mutations are recognized to correlate with a worse prognosis in individuals with non-small cell lung cancer (NSCLC). …”
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PIK3CA mutational status in tissue and plasma as a prognostic biomarker in HR+/HER2− breast cancer by Eduardo Terán, Rebeca Lozano, César A. Rodríguez, Mar Abad, Luis Figuero, José Antonio Muñoz, Belén Cigarral, Aline Rodrígues, Magdalena Sancho, M. Asunción Gómez, Daniel Morchón, Juan Carlos Montero, José María Sayagués, M. Dolores Ludeña, Emilio Fonseca

“…Our aim was to correlate tissue and plasma approaches and to analyze the prognostic impact of PIK3CA mutations (PIK3CAm) in HR+/HER2− BC. Methods A retrospective and unicentric analysis of PIK3CA mutational status in tissue and plasma samples by Cobas®PIK3CA Mutation Kit in patients with HR+/HER2− BC. …”
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Severe Combined Immunodeficiency Disorder due to a Novel Mutation in Recombination Activation Gene 2: About 2 Cases by Ibtihal Benhsaien, Fatima Ailal, Khadija Elazhary, Jalila El bakkouri, Abdallah Badou, Ahmed Aziz Bousfiha

“…The novel mutation in the RAG2 gene identified in our study may help the early diagnosis of SCID.…”
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Analysis of a Family with Brugada Syndrome and Sudden Cardiac Death Caused by a Novel Mutation of SCN5A by Yao-Bin Zhu, Jian-Hui Zhang, Yuan-Yuan Ji, Ya-Nan Hu, Han-Lu Wang, Dan-Dan Ruan, Xiao-Rong Meng, Xin-Fu Lin, Jie-Wei Luo, Wei Chen

“…Brugada syndrome is a hereditary cardiac disease associated with mutations in ion channel genes. The clinical features include ventricular fibrillation, syncope, and sudden cardiac death. …”
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Heterogeneous phenotype of a Chinese Familial WHIM syndrome with CXCR4V340fs gain-of-function mutation by Yu Huang, Yu Huang, Yu Huang, Lu Li, Lu Li, Ran Chen, Ran Chen, Lang Yu, Lang Yu, Shunkai Zhao, Yanjun Jia, Yanjun Jia, Ying Dou, Ying Dou, Ying Dou, Zhiyong Zhang, Zhiyong Zhang, Yunfei An, Yunfei An, Xuemei Tang, Xuemei Tang, Xiaodong Zhao, Xiaodong Zhao, Lina Zhou

“…It is caused mainly by heterozygous mutations at the C-terminus of the C-X-C chemokine receptor type 4 (CXCR4) gene.MethodsWe described the detailed clinical, genetic, immunological and treatment characteristic of four WHIM patients from a single Chinese family.ResultsHere, we report four patients from a family carrying a variant of CXCR4 (c.1016_1017dupCT), which introduces a frameshift at codon V340, resulting in an extension of 14 amino acids (p.V340L fs*27). …”
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Management of Neonatal Diabetes due to a KCNJ11 Mutation with Automated Insulin Delivery System and Remote Patient Monitoring by Ming Yeh Lee, Anna L. Gloyn, David M. Maahs, Priya Prahalad

“…We present a case of NDM in a proband initially presenting with focal seizures and diabetic ketoacidosis due to a pathologic mutation in the beta cell potassium ATP channel gene KCNJ11 c.679G > A (p.E227K). …”
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Analysis of KRAS Mutations of Exon 2 Codons 12 and 13 by SNaPshot Analysis in Comparison to Common DNA Sequencing by Rica Zinsky, Servet Bölükbas, Holger Bartsch, Joachim Schirren, Annette Fisseler-Eckhoff

“…The more frequent mutation detection by the SNaPshot analysis shows that this method has a high probability of accuracy in the detection of KRAS mutations compared to sequencing.…”
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GENDER-SPECIFIC INFLUENCE OF Aу MUTATION ON PROGENY METABOLIC PHENOTYPE, FETAL GROWTH AND PLACENTAL GENE EXPRESSION IN MICE by E. N. Makarova, E. I. Denisova, V. V. Kozhevnikova, A. E. Kuleshova

Subjects: “…ау mutation…”
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Characterizing microbial communities and their correlation with genetic mutations in early-stage lung adenocarcinoma: implications for disease progression and therapeutic targets by Hao-Shuai Yang, Jin Zhang, Hong-Xiang Feng, Fei Qi, Fan-Jia Kong, Wei-Jie Zhu, Chao-Yang Liang, Zhen-Rong Zhang

“…Whole exome sequencing was performed to identify somatic mutations and genetic variants. Bioinformatics analysis, including taxonomic annotation with Kraken2 and de novo assembly with MEGAHIT, was conducted to process metagenomic data. …”
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Evaluating the droplet digital PCR and direct Sanger sequencing for the detection of the BRAFV600E mutation in papillary thyroid carcinoma by Akankshya Dash, Chinnasamy Ragavendran

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Determination of mutagenicity of chemical compounds, physical factors and environmental pollutants by the Drosophila melanogaster wing somatic mutation and recombination test by L. P. Zakharenko, I. K. Zakharov

“…A somatic mutation and recombination test (SMART) on the wing cells of Drosophila melanogaster is described in this article in detail. …”
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Diploid aposporous sunflower forms triploid BIII progeny displaying increased apospory levels and non-random genetic mutations by Silvina Pessino, Graciela Nestares, Marta B. Bianchi, Iara Katzaroff, Lucía Amato, Marika Bocchini, Gianpiero Marconi, Emidio Albertini, Ana C. Ochogavía

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Hepatocyte Nuclear Factor 1 Beta Mutation-associated Newborn Onset of Glomerulocystic Kidney Disease: A Case Presentation by Nilüfer Göknar, Melda Ekici Avcı, Diana Üçkardeş, Emre Keleşoğlu, Kübra Tekkuş Ermiş, Cengiz Candan

“…Mutations in hepatocyte nuclear factor-1 beta (HNF1B) are the most commonly identified genetic cause of renal malformations. …”
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Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects by Débora de Paula Michelatto, Leif Karlsson, Ana Letícia Gori Lusa, Camila D’Almeida Mgnani Silva, Linus Joakim Östberg, Bengt Persson, Gil Guerra-Júnior, Sofia Helena Valente de Lemos-Marini, Michela Barbaro, Maricilda Palandi de Mello, Svetlana Lajic

“…We present the functional and structural effects of seven novel (p.Leu12Met, p.Arg16Cys, p.Ser101Asn, p.Ser202Gly, p.Pro267Leu, p.Gln389_Ala391del, and p.Thr450Met) and two previously reported but not studied (p.Ser113Phe and p.Thr450Pro) CYP21A2 mutations. Functional analyses were complemented with in silico prediction of mutation pathogenicity based on the recently crystallized human CYP21A2 structure. …”
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Integrative multiomics reveals common endotypes across PSEN1, PSEN2, and APP mutations in familial Alzheimer’s disease by Phoebe Valdes, Andrew B. Caldwell, Qing Liu, Michael Q. Fitzgerald, Srinivasan Ramachandran, Celeste M. Karch, Dominantly Inherited Alzheimer Network (DIAN), Douglas R. Galasko, Shauna H. Yuan, Steven L. Wagner, Shankar Subramaniam

“…PSEN1 mutations are more common and generally have an earlier AAO; however, certain PSEN1 mutations cause a later AAO, similar to those observed in PSEN2 and APP. …”
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Effects of Tp53 Gene Mutations on the Survival of Non-Small Cell Lung Cancer (NSCLC); A Short Review by Zhang C, Yang C, Shi Q

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