Vascular Transdifferentiation in the CNS: A Focus on Neural and Glioblastoma Stem-Like Cells by Sophie Guelfi, Hugues Duffau, Luc Bauchet, Bernard Rothhut, Jean-Philippe Hugnot

“…There is growing evidence to support the possibility that these cells are derived from the accumulation of mutations in adult neural stem cells (NSCs) as well as in oligodendrocyte progenitors. …”
Get full text

Comparison of differences in transcriptional and genetic profiles between intra-central nervous system and extra-central nervous system large B-cell lymphoma by Shu Wang, Hong Chen, Bo Dai, Kang Zheng, Jiajun Zheng, Yuqi Zhu, Yan Yuan, Tianling Ding, Qian Wang, Liqian Xie, Rui Feng, Fengping Zhu, Jianbin Xiang, Weiqun Ding, Hong Ding, Yuan Li, Xiaodong Gu, Kunpeng Wu, Yifan Yuan, Jianping Song, Dongxiao Zhuang, Haoshu Zhong, Hanfeng Wu, Ying Mao, Tong Chen

“…By performing whole-exome sequencing in 93 patients, mutations enriched in BCR-NFkB and TLR pathways and the cooperation of these two pathways were found to be predominant in PCNS-DLBCL comparing to nonGCB-ecDLBCL. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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%). …”
Get full text

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). …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

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. …”
Get full text

Congenital Chloride Diarrhea: Diagnosis by Easy-Accessible Chloride Measurement in Feces by C. Gils, M.-C. Eckhardt, P. E. Nielsen, M. Nybo

“…Congenital chloride diarrhea (CCD) is an autosomal recessive disorder caused by mutations in the genes encoding the intestinal Cl−/HCO3- exchanger and is clinically characterized by watery, profound diarrhea, electrolyte disturbances, and metabolic alkalosis. …”
Get full text