Smoking, DNA Adducts and Number of Risk DNA Repair Alleles in Lung Cancer Cases, in Subjects with Benign Lung Diseases and in Controls by Marco Peluso, Armelle Munnia, Sara Piro, Alessandra Armillis, Marcello Ceppi, Giuseppe Matullo, Riccardo Puntoni

“…Smoke constituents can induce DNA adducts that cause mutations and lead to lung cancer. We have analyzed DNA adducts and polymorphisms in two DNA repair genes, for example, XRCC1 Arg194Trp and Arg399Gln genes and XRCC3 Thr241Met gene, in 34 lung cancer cases in respect to 30 subjects with benign lung cancer disease and 40 healthy controls. …”
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Movements and Its In-Process Control of Ground and Built Structures due to Tunnelling in Urban Areas by Dingli Zhang, Liqiang Cao, Jianbo Fei, Huangcheng Fang, Lin Yu, Xuefei Hong

“…The cumulative and mutational characteristics of the displacements are considered, which can be the main basis for distinguishing the occurrence of two types of disasters. …”
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Orthopedic Manifestations of Bruck Syndrome: A Case Series with Intermediate to Long-term Follow-Up by Adolfredo Santana, Geovanny Oleas-Santillán, Jeanne M. Franzone, L. Reid Nichols, J. Richard Bowen, Richard W. Kruse

“…All had contractures at birth and genotypic findings including mutations in PLOD2 or FPKB10. Three cases were treated with bisphosphonates with improvement in bone density verified by DEXA. …”
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Molecular characterization of mixed-histology endometrial carcinoma provides prognostic and therapeutic value over morphologic findings by Paulina J. Haight, Ashwini Esnakula, Courtney J. Riedinger, Adrian A. Suarez, Jessica Gillespie, Ashley Patton, Alexis Chassen, David E. Cohn, Casey M. Cosgrove

“…Tumors were classified as: POLE-mutated (13.9%), microsatellite instability (MSI)-high/mismatch repair deficient (MMRd) (26.4%), TP53/p53 abnormal (p53abnl) (48.6%), no specific molecular profile (NSMP) (11.1%). …”
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CDC20‐Mediated Selective Autophagy Degradation of PBRM1 Affects Immunotherapy for Renal Cell Carcinoma by Yizeng Fan, Weichao Dan, Taotao Que, Yi Wei, Bo Liu, Zixi Wang, Yulin Zhang, Yuzhao Wang, Tianjie Liu, Yanxin Zhuang, Mengxing Li, Chendong Guo, Jin Zeng, Bohan Ma, Lei Li

“…Abstract Polybromo 1 (PBRM1) inactivating mutations are associated with clinical benefit from immune checkpoint inhibitor treatments in clear cell renal cell carcinoma (ccRCC). …”
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An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial Dysmorphisms by Ivan Y. Iourov, Svetlana G. Vorsanova, Oxana S. Kurinnaia, Yuri B. Yurov

“…The phenotype of the index patient was found to resemble the mildest cases of Bohring-Opitz syndrome that is caused by ASXL1 mutations. An in silico evaluation of the deleted genomic region has shown that benign genomic variations have never been observed to affect the ASXL1 gene, in contrast to the other disease-causing genes. …”
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Evidence for the Involvement of Lipid Rafts and Plasma Membrane Sphingolipid Hydrolases in Pseudomonas aeruginosa Infection of Cystic Fibrosis Bronchial Epithelial Cells by Domitilla Schiumarini, Nicoletta Loberto, Giulia Mancini, Rosaria Bassi, Paola Giussani, Elena Chiricozzi, Maura Samarani, Silvia Munari, Anna Tamanini, Giulio Cabrini, Giuseppe Lippi, Maria Cristina Dechecchi, Sandro Sonnino, Massimo Aureli

“…Cystic fibrosis (CF) is the most common autosomal genetic recessive disease caused by mutations of gene encoding for the cystic fibrosis transmembrane conductance regulator. …”
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Development of a Portable Rapid Detection Method for Porcine Epidemic Diarrhea Virus Using Reverse Transcription-Recombinase-Aided Amplification Technology by Yiran Zhao, Weijie Yi, Qicheng Yang, Jiahao Li, Yanke Shan, Fei Liu

“…The continuous genetic mutations of PEDV have compromised the effectiveness of classical strain vaccines. …”
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Podocyturia: A Clue for the Rational Use of Amiloride in Alport Renal Disease by H. Trimarchi, R. Canzonieri, A. Muryan, A. Schiel, A. Araoz, M. Paulero, J. Andrews, T. Rengel, M. Forrester, F. Lombi, V. Pomeranz, R. Iriarte, E. Zotta

“…No specific or efficient treatment exists for Alport syndrome, an X-linked hereditary disease caused by mutations in collagen type IV, a crucial component of the glomerular basement membrane. …”
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Longitudinal characterization reveals behavioral impairments in aged APP knock in mouse models by Lisa Blackmer-Raynolds, Lyndsey D. Lipson, Isabel Fraccaroli, Ian N. Krout, Jianjun Chang, Timothy Robert Sampson

“…The APPSAA mouse model (containing the humanized APP with three familial Alzheimer’s disease mutations) and the APPWT control (containing wildtype humanized APP) are the first commercially available APP KI mice within the United States. …”
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Structural basis for assembly and function of the Salmonella flagellar MS-ring with three different symmetries by Miki Kinoshita, Fumiaki Makino, Tomoko Miyata, Katsumi Imada, Keiichi Namba, Tohru Minamino

“…A combination of cryoEM structure and structure-based mutational analyses demonstrates that the well-conserved DQxGxxL motif in the RBM2-RBM3 hinge loop allows RBM2 to take two different orientations relative to RBM3. …”
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Enterocyte-like differentiation defines metabolic gene signatures of CMS3 colorectal cancers and provides therapeutic vulnerability by Arezo Torang, Aleksandar B. Kirov, Veerle Lammers, Kate Cameron, Valérie M. Wouters, Rene F. Jackstadt, Tamsin R. M. Lannagan, Joan H. de Jong, Jan Koster, Owen Sansom, Jan Paul Medema

“…CMS3-like, metabolic signature-positive, organoids are induced by KRAS mutations. Interestingly, metabolic signatures are subsequently shown to result from enterocyte-like differentiation both in organoids and human cancers. …”
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FusOn-pLM: a fusion oncoprotein-specific language model via adjusted rate masking by Sophia Vincoff, Shrey Goel, Kseniia Kholina, Rishab Pulugurta, Pranay Vure, Pranam Chatterjee

“…FusOn-pLM uniquely predicts drug-resistant mutations, providing insights for therapeutic design that anticipates resistance mechanisms. …”
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Antibiotic-associated changes in Akkermansia muciniphila alter its effects on host metabolic health by Yumin Han, Teh Min Teng, Juwon Han, Heenam Stanley Kim

“…Results In this study, we discovered that variants of the key beneficial gut microbe, Akkermansia muciniphila, were selected upon exposure to penicillin. These variants had mutations in the promoter of a TEM-type β-lactamase gene or pur genes encoding the de novo purine biosynthesis pathway, and they exhibited compromised abilities to mitigate host obesity in a murine model. …”
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Malignant melanoma of the ear - a literature review of a rare otological tumor by Nicol Dardzińska, Marta Dziedziak, Aleksandra Grzegorczyk, Natalia Hopej, Justyna Korus

“…The tumor develops from mutated melanocytes. External ear melanoma contributes for only about 1% of all cutaneous melanoma and occurs mostly to people over the age of 60. …”
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RCSD1-ABL1 Translocation Associated with IKZF1 Gene Deletion in B-Cell Acute Lymphoblastic Leukemia by Shawana Kamran, Gordana Raca, Kamran Nazir

“…The use of CMA resulted in detection of an approximately 70 kb deletion at 7p12.2, which caused a disruption of the IKZF1 gene. Deletions and mutations of IKZF1 are recurring abnormalities in B-ALL and are associated with a poor prognosis. …”
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Small fiber neuropathy: clinical presentation, diagnostic methods, possibly causes and treatment by E. Paulėkas, D. Garšvienė, K. Petrikonis

“…There is a plethora of possible SFN causes, such as metabolic, immune system mediated or neurotoxic factors, although in about 50% of cases, the precise etiology remains unknown. In recent years, mutations in genes SCN9A and SCN10A that encode voltage-gated sodium channels Nav1.7 and Nav1.8, respectively, have been linked to nearly a third of SFN cases that previously were thought of as idiopathic. …”
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Synthetic Gene Drives in Plants: Development Strategies, Potential Applications, and Ethical Considerations by Yawen Liu, Bingke Jiao, Wenfeng Qian

“…We explore various factors that influence the effectiveness of gene drives, including the emergence of suppressor mutations and life‐history traits such as sexual and asexual reproduction patterns, seed and pollen dispersal methods, and the variability in plant generation times. …”
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Development of RNA interference-based therapy for rare genetic diseases by Milya Urfa Ahmad, Syarifah Dewi

“…These diseases, often congenital, are linked to genetic inheritance or mutations, leading to structural or functional defects. …”
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Dysfunction of G Protein-Coupled Receptor Kinases in Alzheimer's Disease by William Z. Suo, Longxuan Li

“…Although mutations and variations of several genes have been identified to be involved in Alzheimer's disease (AD), the efforts towards understanding the pathogenic mechanisms of the disease still have a long journey to go. …”
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