Development of a Model Mutagenesis System for Snapdragon by Zhaoyuan Lian, Heqiang Huo, Sandra B. Wilson, Jianjun Chen

“…Furthermore, snapdragon has a mechanism by which transposable mutations can be regulated into active and inactive states through temperature control (Hashida et al., 2006). …”
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Genomic and Computational Analysis of Novel SNPs in TNP1 Gene Promoter Region of Bos indicus Breeding Bulls by Kashif Hameed Anjum, Asif Nadeem, Maryam Javed, Hafiz Ishfaq Ahmad, Amjad Riaz, Wasim Shehzad, Jahanzaib Azhar, Muhammad Fahad Bhutta

“…The CpG islands in the TNP1 promoter region were predicted to be absent by the MethPrimer program before and after SNP site mutations. These findings pave the way for more research into the TNP1 gene’s promoter activity and the links between these SNPs and reproductive attributes in the Sahiwal breeding bulls.…”
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The zebrafish moonshine gene encodes transcriptional intermediary factor 1gamma, an essential regulator of hematopoiesis. by David G Ransom, Nathan Bahary, Knut Niss, David Traver, Caroline Burns, Nikolaus S Trede, Noelle Paffett-Lugassy, Walter J Saganic, C Anthoney Lim, Candace Hersey, Yi Zhou, Bruce A Barut, Shuo Lin, Paul D Kingsley, James Palis, Stuart H Orkin, Leonard I Zon

“…Hematopoiesis is precisely orchestrated by lineage-specific DNA-binding proteins that regulate transcription in concert with coactivators and corepressors. Mutations in the zebrafish moonshine (mon) gene specifically disrupt both embryonic and adult hematopoiesis, resulting in severe red blood cell aplasia. …”
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Human SLC26A1 Gene Variants: A Pilot Study by Paul A. Dawson, Pearl Sim, David W. Mudge, David Cowley

“…DNA sequence analyses showed missense mutations in seven patients: one individual was heterozygous R372H; 4 individuals were heterozygous Q556R; one patient was homozygous Q556R; and one patient with severe nephrocalcinosis (requiring nephrectomy) was homozygous Q556R and heterozygous M132T. …”
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BONE MARROW MICROENVIRONMENT INVOLVEMENT IN T-MN: FOCUS ON MESENCHYMAL STEM CELLS by Maria Teresa Voso, Giulia Falconi, Emiliano Fabiani

“…However, we now know that treatment-induced mutations in HSC are not the only players involved in t-MN development but additional factors may contribute to the onset of t-MN. …”
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Microsporidian Nosema bombycis secretes serine protease inhibitor to suppress host cell apoptosis via Caspase BmICE. by Maoshuang Ran, Jialing Bao, Boning Li, Yulian Shi, Wenxin Yang, Xianzhi Meng, Jie Chen, Junhong Wei, Mengxian Long, Tian Li, Chunfeng Li, Guoqing Pan, Zeyang Zhou

“…Knocking out of BmICE or mutating the BmICE-interacting P1 site of NbSPN14, eliminated the localization of NbSPN14 into the host nucleus and prevented the apoptosis-inhibiting effect of NbSPN14, which also proved that the interaction between BmICE and NbSPN14 occurred in host cytoplasm and the NbSPN14 translocation into host cell nucleus depends on BmICE. …”
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PD-1 Blockade in Advanced Melanoma in Patients with Hepatitis C and/or HIV by Diwakar Davar, Melissa Wilson, Chelsea Pruckner, John M. Kirkwood

“…On the basis of remarkable antitumor activity, programmed death receptor-1 (PD-1) inhibitors pembrolizumab and nivolumab were approved for the treatment of advanced melanoma in the second-line setting following progression on either CTLA-4 inhibitor ipilimumab or BRAF/MEK inhibitors (for BRAF mutated melanoma). Given hypothesized risk of triggering exacerbations of autoimmune diseases and/or chronic viral infections, clinical trials (including regulatory studies) evaluating checkpoint blocking antibodies PD-1 and CTLA-4 have excluded patients with autoimmune diseases, chronic hepatitis B/C virus (HBV/HCV), and/or human immunodeficiency virus (HIV) infections. …”
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The continually evolving landscape of novel therapies in oncogene-driven advanced non-small-cell lung cancer by Barbara Melosky, Rosalyn A. Juergens, Shantanu Banerji, Adrian Sacher, Paul Wheatley-Price, Stephanie Snow, Ming-Sound Tsao, Natasha B. Leighl, Ilidio Martins, Parneet Cheema, Geoffrey Liu, Quincy S. C. Chu

“…Advances in molecular diagnostics and drug development have facilitated the targeting of novel alterations such that the majority of NSCLC patients have driver mutations that are now clinically actionable. The goal of this review is to gain insights into clinical research and development principles by summary, analysis, and discussion of data on agents targeting known alterations in oncogene-driven, advanced NSCLC beyond those in the epidermal growth factor receptor (EGFR) and the anaplastic lymphoma kinase (ALK) . …”
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Vaccines for cancer interception in familial adenomatous polyposis by David E. Johnson, Mary L. Disis

“…Familial adenomatous polyposis (FAP) is an inherited autosomal dominant disorder caused by germline mutations in the adenomatous polyposis coli (APC) gene. …”
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Improved production strain maintenance technique for Burkholderia mallei 5584 (Master seed) used for glander diagnostic agent production by E. A. Artemeva, L. A. Melnikova, L. I. Zaynullin, N. K. Bukova

“…The previous strain maintenance technique involved its storage in its native state, which facilitated accumulation of genetic mutations and, ultimately modification of bacterial cell properties. …”
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TRIM25: A Global Player of Cell Death Pathways and Promising Target of Tumor-Sensitizing Therapies by Wolfgang Eberhardt, Usman Nasrullah, Josef Pfeilschifter

“…., acquired by random mutations, cancer cells typically escape from certain treatments (“acquired resistance”) by a large variety of means, including suppression of apoptosis and other cell death pathways via upregulation of anti-apoptotic factors or through inhibition of tumor-suppressive proteins. …”
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DICER1: The Argonaute Endonuclease Family Member and Its Role in Pediatric and Youth Pathology by Consolato M. Sergi, Fabrizio Minervini

“…Numerous studies have determined the full range of DICER1 functions and the corresponding relationship to tumorigenic and non-neoplastic diseases. In fact, genetic mutations (somatic and germline) have been detected in <i>DICER1</i> and are genetically associated with at least two clinical syndromes: DICER1 syndrome and GLOW syndrome. …”
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Interaction of Cu(II) and Ni(II) with Ypk9 Protein Fragment via NMR Studies by Massimiliano Francesco Peana, Serenella Medici, Alessia Ledda, Valeria Marina Nurchi, Maria Antonietta Zoroddu

“…Ypk9 showed manganese detoxification role, preventing a Mn-induced Parkinsonism (PD) besides mutations in Park9, linked to a juvenile form of the disease. …”
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Prenatal Identification and Molecular Characterization of Two Simultaneous De Novo Interstitial Duplications of Chromosomal Regions 7p22.1p21.1 and 15q24.1 by Sabrina C. Burn, Kali Swift, Maria Palmquist

“…Parental chromosomal analysis did not identify any heritable changes, suggesting both mutations were de novo in nature. Postnatal examination of the neonate was significant for low set ears, thick helices, flat nasal bridge, ankyloglossia, and aberrant head shape and size concerning for craniosynostosis. …”
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Improved constructs for bait RNA display in a bacterial three-hybrid assay by Linh D. Nguyen, Hannah LeBlanc, Katherine E. Berry

“…This system offers a straightforward path to identify and assess the consequences of mutations in RBPs with molecular phenotypes of interest. …”
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The impact of PD-L1 polymorphisms on the efficacy of immune checkpoint inhibitors depends on the tumor proportion score: a retrospective study by Keiichiro Suminaga, Takashi Nomizo, Hironori Yoshida, Hiroaki Ozasa

“…We retrospectively extracted data on age, sex, smoking history, driver mutations, TPS, progression-free survival (PFS), and best response to ICI from medical records. …”
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Generation of IgM+ B cell-deficient Atlantic salmon (Salmo salar) by CRISPR/Cas9-mediated IgM knockout by Mari Raudstein, Ma. Michelle D. Peñaranda, Erik Kjærner-Semb, Søren Grove, H. Craig Morton, Rolf Brudvik Edvardsen

“…High-throughput sequencing revealed an average mutagenesis efficiency of 97% across both loci, with a predominance of frameshift mutations (78%). Gene expression analyses demonstrated significantly reduced membrane-bound IgM mRNA levels in head kidney and spleen tissues. …”
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Genetic Analysis of Sodium Channel Genes in Pediatric Epilepsy Patients of Pakistan by Aqsa Ashfaq, Tayyaba Saleem, Nadeem Sheikh, Hafsa Maqbool

“…The polymorphic sites rs794726754, rs1057518252, rs121918809, rs12191792, rs121917932, c.730 G > T, c.735 G > T, c.736 A > T, rs10167228, and rs2298771 of the SCN1A gene and rs17183814 of SCN2A gene were selected for mutational analysis. The DNA was isolated, amplified by PCR, and then, was run through 1% agarose gel. …”
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Second-generation BRAF inhibitor Encorafenib resistance is regulated by NCOA4-mediated iron trafficking in the drug-resistant malignant melanoma cells by Ceyda Colakoglu Bergel, Isil Ezgi Eryilmaz, Gulsah Cecener, Unal Egeli

“…Abstract The current study established the first in vitro Encorafenib resistance protocol in BRAF-mutated malignant melanoma (MM) cells and investigated the resistance-related mechanisms. …”
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Aweak phenotype associated with novel ABO*A allele variant c.106delinsGG by Sanmukh Ratilal Joshi, Glenda Millard, Mayuri Vekariya, Priya Radadiya, Manisha Rajapara, Hiren Dhanani, Gaurav Shastri, Prabhat Sharma, Brett Wilson, Yew-Wah Liew

“…BACKGROUND AND OBJECTIVES: Discrepancy between forward and reverse ABO grouping could be due to several reasons including genetic mutations of the alleles encoding group specific transferase. …”
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