Dimerization-dependent serine protease activity of FAM111A prevents replication fork stalling at topoisomerase 1 cleavage complexes by Sowmiya Palani, Yuka Machida, Julia R. Alvey, Vandana Mishra, Allison L. Welter, Gaofeng Cui, Benoît Bragantini , Maria Victoria Botuyan, Anh T. Q. Cong, Georges Mer, Matthew J. Schellenberg, Yuichi J. Machida

“…Missense mutations in the catalytic domain cause hyper-autocleavage and are associated with genetic disorders with developmental defects. Despite the enzyme’s biological significance, the molecular architecture of the FAM111A serine protease domain (SPD) is unknown. …”
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The role of polymorphism (rs1800566) of NAD(F)H quinone oxidoreductase-1 in development of acute pancreatitis by T. A. Samgina, Y. V. Kanishchev, S. N. Grigor’Yev, P. M. Nazarenko, A. V. Polonikov

“…To estimate the role of genetic polymorphism (rs1800566) of NAD(F)H quinone oxidoreductase-1 in development of acute pancreatitis in the Russian population. …”
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Advancements in the Treatment of Mucopolysaccharidoses: From Established Therapies to Gene Therapy by Joanna Wanat, Wojciech Homa, Aleksandra Warunek, Gabriela Gronowicz, Izabela Dzikowska, Agata Siejka, Daria Stefaniak, Weronika Zielińska, Michał Chról

“… Introduction and purpose Mucopolysaccharidoses (MPS), a subset of inborn errors of metabolism (IEM), are genetic disorders requiring pediatricians to recognize non-specific symptoms and carefully monitor newborns. …”
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Eye development under the control of SRp55/B52-mediated alternative splicing of eyeless. by Weronika Fic, François Juge, Johann Soret, Jamal Tazi

“…The genetic programs specifying eye development are highly conserved during evolution and involve the vertebrate Pax-6 gene and its Drosophila melanogaster homolog eyeless (ey). …”
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Synthetic augmentation of cancer cell line multi-omic datasets using unsupervised deep learning by Zhaoxiang Cai, Sofia Apolinário, Ana R. Baião, Clare Pacini, Miguel D. Sousa, Susana Vinga, Roger R. Reddel, Phillip J. Robinson, Mathew J. Garnett, Qing Zhong, Emanuel Gonçalves

“…The synthetically enhanced data increases statistical power, uncovering less studied mechanisms associated with drug resistance, and refines the identification of genetic associations and clustering of cancer cell lines. …”
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Elevated levels of neutrophils with a pro-inflammatory profile in Turner syndrome across karyotypes by Jesper Just, Lukas Ochsner Reynaud Ridder, Emma Bruun Johannsen, Jens Magnus Bernth Jensen, Mikkel Steen Petersen, Helene Viborg Christensen, Kenneth Kjærgaard, Jacob Redder, Simon Chang, Kirstine Stochholm, Anne Skakkebæk, Claus Højbjerg Gravholt

“…The increase in neutrophils was linked to TS clinical traits and to increased expression of the X-Y homologous gene TBL1X, suggesting a genetic basis, which may lead to neutrophil-driven inflammatory stress in TS. …”
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Sedum alfredii Hance: A cadmium and zinc hyperaccumulating plant by Mingying Liu, Ying Feng, Miao Wang, Xinglin Sun, Chen Yinfei Qi, Xiaoe Yang, Dayi Zhang

“…This also encourages studies on functional genes involved in metal transport, antioxidant, transcription regulation and stress response, providing candidates for genetic modification. Moreover, researchers have focused on the practical application and optimal managements in phytoremediation. …”
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Annotation-free deep learning for predicting gene mutations from whole slide images of acute myeloid leukemia by Bo-Han Wei, Xavier Cheng-Hong Tsai, Kuo-Jui Sun, Min-Yen Lo, Sheng-Yu Hung, Wen-Chien Chou, Hwei-Fang Tien, Hsin-An Hou, Chien-Yu Chen

“…Using a dataset of 572 WSIs, the largest database with both WSI and genetic mutation information, our model achieved an AUC of 0.90 ± 0.08 for NPM1 and 0.80 ± 0.10 for FLT3-ITD in the testing cohort. …”
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HPRNA: Predicting synergistic drug combinations for angina pectoris based on human pathway relationship network algorithm. by Mengyao Zhou, Mengfan Xu, Xiangling Zhang, Xiaochun Xing, Yang Li, Guanghui Wang, Guiying Yan

“…We first reconstruct a novel angina pectoris drug dataset, which include drug name, drug metabolism, chemical formula, targets and pathways, then construct a comprehensive human pathway network based on the genetic similarity of the pathways which contain information about the targets. …”
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Lipedema: Clinical Features, Diagnosis, and Management by Hatan Hisham Mortada, Abdulmalek W. Alhithlool, Nouf Z. AlBattal, Rashika K. Shetty, Ghaleb A. AL-Mekhlafi, Joon Pio Hong, Feras Alshomer

“…The current research indicates that lipedema appears to be a clinical entity related to genetic factors and fat distribution, although distinct from lymphedema and obesity. …”
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A comprehensive review on elucidating the host disease resistance mechanism from the perspective of the interaction between cotton and Verticillium dahliae by Yalin Zhang, Lihong Zhao, Dongpo Li, Ziming Li, Hongjie Feng, Zili Feng, Feng Wei, Jinglong Zhou, Zhiying Ma, Jun Yang, Heqin Zhu

“…In this review, we comprehensively discuss genetic inheritance associated with Verticillium wilt resistance in cotton, the advancements in molecular markers for disease resistance, the functional investigation of resistance genes in cotton, the analysis of pathogenicity genes in V. dahliae, as well as the intricate interplay between cotton and this fungus. …”
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Estrous Synchronization and Fixed-Time Artificial Insemination by Vitor R. G. Mercadante, Darren D. Henry, Francine M. Ciriaco, Pedro L. P. Fontes, Nicky Oosthuizen, G. Cliff Lamb

“…Over the last four decades, several advances in reproductive biotechnologies, such as artificial insemination (AI), synchronization of estrus, and fixed-time AI (TAI), have allowed producers to improve the genetic traits of their cattle and shorten the lengths of both the breeding season and subsequent calving season, which can lead to increased overall profitability of cow-calf production systems. …”
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Exploring the association between air pollution and the incidence of liver cancers by Xin Wu, Xin Zhang, Xiaopeng Yu, Hongyuan Liang, Shaoshan Tang, Yao Wang

“…Mechanistically, air pollutants may cause liver damage by inducing oxidative stress, inflammation, and genetic mutations, contributing to cancer development. …”
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Debatten i debatten by Jenny Eklöf

“… In the late 1970s, the media debate about recombinant DNA technology was Sweden’s first, but far from last, controversy about the risks and possibilities of genetic engineering. Based on the concept of knowledge cartographies, this study highlights how the main actors in the debate tried to make sense of what gene technology entailed, but also, and more importantly, how knowledge about the technology and its consequences should be communicated and disseminated in society. …”
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Gene function revealed at the moment of stochastic gene silencing by Shreyan Gupta, James J. Cai

“…Analysis of real data demonstrates that scSGS can reveal regulatory relationships up- and downstream of target genes, circumventing the survivorship bias that often affects gene knockout and perturbation studies. scSGS thus offers an efficient approach for gene function prediction, with significant potential to reduce the use of genetically modified animals in gene function research.…”
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Climate Change Adaptation: New Perspectives for Natural Resource Management and Conservation by Rebecca G. Harvey, Laura A. Brandt, Frank J. Mazzotti

“…The rate at which climate is projected to change in coming decades is likely too fast for many species to genetically adapt or to migrate to new suitable areas. …”
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Genomic characterization of chronic lymphocytic leukemia in patients of African ancestry by Cecilia Bonolo de Campos, Chantal E. McCabe, Laura A. Bruins, Daniel R. O’Brien, Sochilt Brown, Renee C. Tschumper, Cristine Allmer, Yuan Xiao Zhu, Kari G. Rabe, Sameer A. Parikh, Neil E. Kay, Huihuang Yan, James R. Cerhan, John N. Allan, Richard R. Furman, J. Brice Weinberg, Danielle M. Brander, Diane F. Jelinek, Marta Chesi, Susan L. Slager, Esteban Braggio

“…To begin to address this gap, we evaluated whether differences exist in the genetic and transcriptomic features of 157 AA and 440 EA individuals diagnosed with CLL. …”
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Esophageal adenocarcinoma: risk factors and modern screening strategy by I. V. Mayev, D. N. Andreyev, Yu. A. Kucheryavy, M. P. Scheglanova

“…Male gender, Caucasian race, obesity and metabolic syndrome, tobacco smoking, and series of genetic markers are considered to be significant EAC risk factors. …”
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Optimization of high-dimensional expensive multi-objective problems using multi-mode radial basis functions by Jiangtao Shen, Xinjing Wang, Ruixuan He, Ye Tian, Wenxin Wang, Peng Wang, Zhiwen Wen

“…Meanwhile, bi-population based on competitive swarm optimizer and genetic algorithm are applied for better exploration and exploitation in high-dimensional search space. …”
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Gene Therapy: A step toward advanced orthodontics – A narrative review by Monika Shukla, Shalu Jain, C. Munish Reddy, Pradeep Raghav, Kumar Amit, Rinchin Yangzom, Shivika Garg, Aastha Kamrani

“…After the introduction of gene therapy in dentistry, this field is also flourishing rapidly in the branch of orthodontics and dentofacial orthopedics as it can prevent many prenatal and postnatal dentofacial anomalies which have the genetical etiology. Despite various animal studies showing promising results, a lot more is left to be explored. …”
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