Identification of p53 and Its Isoforms in Human Breast Carcinoma Cells by Zorka Milićević, Vladan Bajić, Lada Živković, Jelena Kasapović, Uroš Andjelković, Biljana Spremo-Potparević

“…The observation that the p53 can express multiple protein isoforms adds a novel level of complexity to the outcome of p53 mutations. p53 expression was analysed by Western immunoblotting and immunohistochemistry using monoclonal antibodies DO-7, Pab240, and polyclonal antiserum CM-1. …”
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Diversity of VIr’s collection of <i>Lupinus angustifolius</i> L. in the inf lorescence color by E. V. Vlasova, G. P. Egorova

“…Descriptions of some biotypes failed to agree with the data on any known gene’s phenotypic expression, which attested to the presence of new mutations, recombinations, or unstudied gene associations.…”
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Genetic Polymorphisms of Interleukin-1 Alpha and the Vitamin D Receptor in Mexican Mestizo Patients with Intervertebral Disc Degeneration by Salvador Cervin Serrano, Dalia González Villareal, Maribel Aguilar-Medina, Jose Guillermo Romero-Navarro, Jose Geovanni Romero Quintana, Eliakym Arámbula Meraz, Ignacio Osuna Ramírez, Veronica Picos-Cárdenas, Julio Granados, Iris Estrada-García, Guzman Sánchez-Schmitz, Rosalío Ramos-Payán

“…Gene polymorphisms were analyzed by polymerase chain reaction followed by restriction fragment length polymorphism, in two groups matched by age and gender: patients with symptomatic lumbar IDD n=100 and subjects with normal lumbar-spine MRI-scans n=100. Distribution of the mutated alleles in patients and controls was 27.0% versus 28.0% P=0.455 for T of rs1800587 (IL1A); 53.0% versus 58.0% P=0.183 for V of rs2228570 (VDR); and 18.0% versus 21.0% P=0.262 for C of rs731236 (VDR). …”
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Pretreatment of Small-for-Size Grafts In Vivo by γ-Aminobutyric Acid Receptor Regulation against Oxidative Stress-Induced Injury in Rat Split Orthotopic Liver Transplantation by Tomohide Hori, Shinji Uemoto, Lindsay B. Walden, Feng Chen, Ann-Marie T. Baine, Toshiyuki Hata, Justin H. Nguyen

“…Immunohistological assessment for apoptotic induction and western blotting for 4-hydroxynonenal, ataxia-telangiectasia mutated kinase (ATM), histone H2AX, phosphatidylinositol-3 kinase (PI3K), Akt, and free radical scavenging enzymes were performed. …”
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Two complementing in vivo selection systems based on CCA-trimming exonucleases as a tool to monitor, select and evaluate enzymatic features of tRNA nucleotidyltransferases by Karolin Wellner, Josefine Gnauck, Dorian Bernier, Stephan H. Bernhart, Heike Betat, Mario Mörl

“…Furthermore, the combination of both RNase T and LCCR4 systems can be used to investigate and dissect the effects of pathogenic mutations on C- and A-addition.…”
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Smad1 Promotes Tumorigenicity and Chemoresistance of Glioblastoma by Sequestering p300 From p53 by Lingli Gong, Daxing Xu, Kaixiang Ni, Jie Li, Wei Mao, Bo Zhang, Zhening Pu, Xiangming Fang, Ying Yin, Li Ji, Jingjing Wang, Yaling Hu, Jiao Meng, Rui Zhang, Jiantong Jiao, Jian Zou

“…Disturbing the interface of Smad1 through amino acid mutations abolishes the Smad1‐p300 complex and promotes p53 acetylation. …”
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Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature by Emma Billington, Geneviève Bernard, William Gibson, Bernard Corenblum

“…She was subsequently found to have mutations in the POLR3B gene, which encodes the second largest subunit of RNA polymerase III. …”
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Characterization of the ZDSD Rat: A Translational Model for the Study of Metabolic Syndrome and Type 2 Diabetes by Richard G. Peterson, Charles V. Jackson, Karen Zimmerman, Willem de Winter, Norman Huebert, Michael K. Hansen

“…Many available animal models have monogenic leptin pathway mutations that are absent in the human population. …”
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An Unusually Short Latent Period of Therapy-Related Myeloid Neoplasm Harboring a Rare MLL-EP300 Rearrangement: Case Report and Literature Review by Reina Takeda, Kazuaki Yokoyama, Seiichiro Kobayashi, Toyotaka Kawamata, Sousuke Nakamura, Tomofusa Fukuyama, Mika Ito, Nozomi Yusa, Eigo Shimizu, Nobuhiro Ohno, Rui Yamaguchi, Seiya Imoto, Satoru Miyano, Kaoru Uchimaru, Arinobu Tojo

“…Next-generation sequencing analysis identified a rare chimeric transcript, MLL-EP300, without any additional somatic mutations. Although the patient underwent allogenic hematopoietic stem cell transplantation, she died of viral encephalomyelitis at 7 months after diagnosis of t-MN. …”
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Genomic Amplification of an Endogenous Retrovirus in Zebrafish T-Cell Malignancies by J. Kimble Frazer, Lance A. Batchelor, Diana F. Bradley, Kim H. Brown, Kimberly P. Dobrinski, Charles Lee, Nikolaus S. Trede

“…Somatically acquired mutations can disable some genes and inappropriately activate others. …”
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68Ga-NOTA-RM26 PET/CT in the evaluation of glioma: a pilot prospective study by Yilin Li, Rongxi Wang, Jingci Chen, Zhaohui Zhu, Yu Wang, Wenbin Ma

“…There was a positive correlation (P < 0.01) between GRPR expression level and SUVmax. P53 mutations caused significant differences in SUVmax (P = 0.03). …”
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Functional Stability of Plasminogen Activator Inhibitor-1 by Songul Yasar Yildiz, Pinar Kuru, Ebru Toksoy Oner, Mehmet Agirbasli

“…Environmental conditions, interaction with other proteins, mutations, and glycosylation are the main factors that have a significant impact on the stability of the PAI-1 structure. …”
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CHD6 has poly(ADP-ribose)- and DNA-binding domains and regulates PARP1/2-trapping inhibitor sensitivity via abasic site repair by Luc Provencher, Wilson Nartey, Peter M. Brownlee, Austin W. Atkins, Jean-Philippe Gagné, Lou Baudrier, Nicholas S. Y. Ting, Cortt G. Piett, Shujuan Fang, Dustin D. Pearson, Shaun Moore, Pierre Billon, Zachary D. Nagel, Guy G. Poirier, Gareth J. Williams, Aaron A. Goodarzi

“…Here, we demonstrate that mutating the CHD6 chromatin remodeler sensitizes cells to PARP1/2 inhibitors in a manner distinct from BRCA1, and that CHD6 recruitment to DNA damage requires cooperation between PAR- and DNA-binding domains essential for nucleosome sliding activity. …”
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Spondylocostal Dysplasia in a 7-Year-Old Sri Lankan Girl Causing Restrictive Lung Disease: A Case Report and Review of the Literature by Phirarthana Kamalanathan, Meranthi Fernando, Rohan Jayawardena, A. Upasena, Shaman Rajindrajith, Sachith Mettananda

“…It is a recessively inherited disorder, and commonly identified disease-causing mutations are in DLL3 gene. The reported prevalence is 1 : 200,000 worldwide, and none was reported from Sri Lanka. …”
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Generic residue numbering of the GAIN domain of adhesion GPCRs by Florian Seufert, Guillermo Pérez-Hernández, Gáspár Pándy-Szekeres, Ramon Guixà-González, Tobias Langenhan, David E. Gloriam, Peter W. Hildebrand

“…The GAIN domain is a hotspot for pathological mutations. However, the low primary sequence conservation of GAIN domains has thus far hindered the knowledge transfer across different GAIN domains in human receptors as well as species orthologs. …”
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Anti-Factor H Antibodies in Egyptian Children with Hemolytic Uremic Syndrome by Shereen Shawky, Hesham Safouh, Mona Gamal, Mohammed M. Abbas, Azza Aboul-Enein, Toshihiro Sawai, Yosra Fahmy, Heba Selim

“…It is primarily caused by dysregulation of the complement alternative pathway due to genetic mutations, mainly in complement factor H genes, or due to anti-factor H autoantibodies (anti-FH), leading to uncontrolled overactivation of the complement system. …”
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Programmed Cell Death, Proliferating Cell Nuclear Antigen and p53 Expression in Mouse Colon Mucosa during Diet-Induced Tumorigenesis by Mauro Risio, Ivana Sarotto, Francesco Paolo Rossini, Harold Newmark, Kan Yang, Martin Lipkin

“…A major finding was an irreversible, progressive, age‐related decline of PCD at the crypt base in both control and treated animals that occurred during the second half of the rodents  life span. p53 protein was not immunohistochemically detected, suggesting that neither overexpression of wild‐type nor mutated forms of the protein are involved in the above mentioned changes.…”
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Orthopaedic Aspects of Marfan Syndrome: The Experience of a Referral Center for Diagnosis of Rare Diseases by Fernando De Maio, Alessandro Fichera, Vincenzo De Luna, Federico Mancini, Roberto Caterini

“…Marfan syndrome is caused by mutations in the fibrillin-1 gene (FBN1). The most important features affect the cardiovascular system, eyes, and skeleton. …”
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MCM2-7 ring closure involves the Mcm5 C-terminus and triggers Mcm4 ATP hydrolysis by Sarah V. Faull, Marta Barbon, Audrey Mossler, Zuanning Yuan, Lin Bai, L. Maximilian Reuter, Alberto Riera, Christian Winkler, Indiana Magdalou, Matthew Peach, Huilin Li, Christian Speck

“…However, defective MCM2-7 ring closure, due to mutations at the Mcm2/Mcm5 interface, leads to MCM2-7 ring splitting and complex disassembly. …”
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Integrated gene expression and alternative splicing analysis in human and mouse models of Rett syndrome by Silvia Gioiosa, Silvia Gasparini, Carlo Presutti, Arianna Rinaldi, Tiziana Castrignanò, Cecilia Mannironi

“…Abstract Mutations of the MECP2 gene lead to Rett syndrome (RTT), a rare developmental disease causing severe intellectual and physical disability. …”
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