Involvement of HLADQA1*05 in Patients with Inflammatory Bowel Disease Treated with Anti-TNF Drugs by Anna Pau, Ilaria Galliano, Elisa Barnini, Maddalena Dini, Antonio Pizzol, Alice Ponte, Stefano Gambarino, Pier Luigi Calvo, Massimiliano Bergallo

“…Pharmacogenomics is increasingly applied in IBD to personalise treatment, especially since genetic factors like the HLA-DQA1*05 variant heighten the immunogenicity risk with IFX. …”
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Morphological, Physiological, and Molecular Responses to Heat Stress in Brassicaceae by Iram Batool, Ahsan Ayyaz, Tongjun Qin, Xiaofen Wu, Weiqi Chen, Fakhir Hannan, Zafar Ullah Zafar, Muhammad Shahbaz Naeem, Muhammad Ahsan Farooq, Weijun Zhou

“…This review summarizes recent research on the genetic and physiological impact of heat stress in the Brassicaceae family, as well as in model plants <i>Arabidopsis</i> and rice. …”
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Impact of elexacaftor-tezacaftor-ivacaftor in lung transplantation for cystic fibrosis in the United States by Tahuanty A. Pena, MD, MS, Brittany Wright, PharmD, Kalpaj R. Parekh, MBBS, Julia Kleney-Tait, MD, PhD

“…These findings underscore the transformative impact of CFTR modulators like ETI on the natural history of CF, highlighting the importance of continued advancements in precision medicine for genetic disorders. Future studies should investigate long-term outcomes and sustained trends in lung transplantation needs among pwCF.…”
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Protocol of a randomised trial of teriparatide followed by zoledronic acid to reduce fracture risk in adults with osteogenesis imperfecta by Jennifer Walsh, Catriona Keerie, Stuart H Ralston, Christopher J Weir, Muhammad K Javaid, WAYNE LAM, Bente L Langdahl, Jannie D Hald, Patricia Osborne

“…Introduction Osteogenesis imperfecta (OI) is a rare genetic disease associated with multiple fractures throughout life. …”
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Breast Cancer: Epidemiology, Risk Factors and Survival Analysis in the Pakistani Population by Shumaila Zaib, Nosheen Masood, Jahangeer Sarwar Khan, Iqra, Azra Yasmin

“… Objective: To find out the association of genetic, reproductive and socio demographic factors with breast cancer in Pakistani women along with the sur- vival percentage of patients having breast cancer. …”
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The Global Burden of Emerging and Re-Emerging Orbiviruses in Livestock: An Emphasis on Bluetongue Virus and Epizootic Hemorrhagic Disease Virus by Shanta Barua, Eaftekhar Ahmed Rana, M. Asaduzzaman Prodhan, Syeda Hasina Akter, Jully Gogoi-Tiwari, Subir Sarker, Henry Annandale, Debbie Eagles, Sam Abraham, Jasim M. Uddin

“…This review summarizes the global distribution, genetic diversity, and key factors driving their spread along with the existing knowledge gaps and recommendations to mitigate their impact. …”
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Contralateral Prophylactic Mastectomy among Women with Pathogenic Variants in BRCA1/2: Overall Survival, Racial, and Ethnic Differences by Sukh Makhnoon, Angelica M. Gutierrez Barrera, Roland Bassett, Aimaz Afrough, Isabelle Bedrosian, Banu K. Arun

“…We retrospectively reviewed the medical records of women with a personal history of unilateral breast cancer carrying pathogenic variants in BRCA1/2 who were diagnosed between 1996 and 2012. Genetic test results, self-reported demographic characteristics, and clinical factors were abstracted from electronic medical records. …”
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Analysis of the relationship between environmental particulate matter exposure and congenital diseases, as well as the epidemiological trends and burden of impact on newborns by Mulati Julaiti, Dilixiati Wubuli, Tingting Cui, Nadire Nijiati, Pengfei Huang, Bowen Hu

“…Despite the observed decline in disease burden, the potential future risks underscore the necessity for continued air quality management and the need for further research to understand the complex interactions between environmental particulate, genetic factors, and fetal development.…”
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Integrative analysis of metabolite and transcriptome reveals the biosynthetic pathway and candidate genes for iridoid glycoside biosynthesis in Neopicrorhiza scrophulariiflora (Pen... by Ke Rao, Ke Rao, Siyu Liu, Siyu Liu, Xiaohui Tang, Guofu Jia, Shaohua Yang, Chaoxiang Ren, Chaoxiang Ren, Jin Pei, Jin Pei

“…These findings provide important genetic and metabolomic information for an in-depth understanding of the biosynthetic mechanisms of iridoids and lay the foundation for the protection and sustainable utilization of N. scrophulariiflora.…”
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Observational study protocol: the faecal microbiome in the acute stage of new-onset paediatric type 1 diabetes in an Irish cohort by Eugene Dempsey, Catherine Stanton, Paul Ross, Colin Patrick Hawkes, Aonghus Lavelle, Carol-Anne O’Shea, Elaine Catherine Kennedy, Fiona Catherine Ross

“…Although there is an underlying genetic predisposition to developing T1D, the trigger is multifactorial and likely includes environmental factors. …”
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Association of vitamin D receptor gene polymorphisms with rheumatoid arthritis by Noelia Marquez Pete, Cristina Perez Ramirez, Maria del Mar Maldonado Montoro, Fernando Martinez Martinez, Fernando Fernández-Llimos, Antonio Sánchez Pozo, María del Carmen Ramirez Tortosa, Alberto Jiménez Morales

“…FokI (rs2228570), BsmI (rs1544410), TaqI (rs731236), ApaI (rs7975232) and Cdx2 (rs11568820) gene polymorphisms were analyzed by TaqMan Results The recessive logistic regression model showed that the VDR FokIAA genotype was associated with lower risk of RA (p = 0.0255; OR = 0.58; 95% CI: 0.35–0.92). No other genetic polymorphism showed any association with RA in any of the models tested. …”
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Mathematical modelling and optimization of cutting conditions in turning operation on MDN 350 steel with carbide inserts by Syed Adil, A. Krishnaiah, D. Srinivas Rao

“…Artificial neural networks technique, which is well known for its versatility to model linear as well as non-linear data, is used to express the surface roughness as a function of tool geometrical variables. Genetic Algorithm, which is an advanced optimization technique known for its intricate search for optimal solutions, is used for optimizing surface roughness with optimal combination of the geometrical parameters. …”
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Sex-specific differences in recurrence and progression following cytostatic intravesical chemotherapy for non-muscle invasive urothelial bladder cancer (NMIBC) by Laila Schneidewind, Bernhard Kiss, Thomas Neumann, Jennifer Kranz, Friedemann Zengerling, Sebastian Graf, Annabel Graser, Annemarie Uhlig

“…Future research should prioritize gender-focused analyses and explore the molecular and genetic basis of potential differences to inform precision medicine and equitable care.…”
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Identifying novel heterozygous PI4KA variants in fetal abnormalities by Chen Cheng, Fan Yang, Xinlin Chen, Sheng Zhao

“…Conclusions This study extended the mutational spectrum of PI4KA and may provide guidance for genetic counseling. Functional studies confirmed that the identified variant induces alterations in RNA splicing and impairs enzyme activity.…”
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Lung adenocarcinoma metastasis within a pituitary neuroendocrine tumor: a case report with review of literature by Koji Suzuki, Shigeyuki Tahara, Yujiro Hattori, Shinichiro Teramoto, Eitaro Ishisaka, Chie Inomoto, Robert Yoshiyuki Osamura, Akio Morita, Yasuo Murai

“…Thus, the patient was diagnosed with lung adenocarcinoma metastasis within a gonadotroph PitNET. Genetic testing revealed the presence of an EGFR (Ex-19del) mutation, after which chemotherapy was initiated. …”
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Short-term evolution and dispersal patterns of fluconazole-resistance in Candida auris clade III by Irving Cancino-Muñoz, Juan Vicente Mulet-Bayona, Carme Salvador-García, Nuria Tormo-Palop, Remedios Guna, Concepción Gimeno-Cardona, Fernando González-Candelas

“…We have identified three subgroups within clade III, among which two are genetically most closely related. Moreover, we have estimated the evolutionary rate of clade III to be 2.25e-7 s/s/y (2.87 changes per year). …”
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Human Neutrophil Defensins Disrupt Liver Interendothelial Junctions and Aggravate Sepsis by QiXing Chen, Yang Yang, YiHang Pan, LiHua Shen, Yan Zhang, Fei Zheng, Qiang Shu, XiangMing Fang

“…The injection of high dose of HNP-1 did not directly induce liver endothelial cell death but destroyed interendothelial junctions in the liver. Moreover, genetic deficiency of nucleotide-binding oligomerization domain-like receptor protein-3 or caspase-1 abrogated the high mortality and disrupted liver interendothelial junctions caused by high dose of HNP-1 during sepsis. …”
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Liver transplantation for homozygous familial hypercholesterolemia: a retrospective analysis from Chinese experience by Hao-Su Zhan, Lin Wei, Wei Qu, Zhi-Gui Zeng, Ying Liu, Yu-Le Tan, Jun Wang, Liang Zhang, En-Hui He, Guang-Peng Zhou, Hai-Ming Zhang, Zhi-Jun Zhu, Li-Ying Sun

“…HoFH was confirmed in all cases by genetic and biochemical assays. Initial treatments administered to these patients consisted of low-fat diets and lipid-lowering drugs with poor outcomes. …”
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Disease resistance traits of IPB-D2 chickens: Characterization of IgY concentrations, Newcastle disease antibody titers, and leukocyte profiles by Dwi Lestari, Sri Murtini, Niken Ulupi, Asep Gunawan, Isyana Khaerunnisa, Anneke Anggraeni, Cece Sumantri

“…Future research should focus on molecular selection through transcriptomic analysis to identify candidate genes associated with disease resistance traits, enabling further genetic improvements.…”
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Effect of custom-designed transfection buffer on delivery of genome modification components into primary cells of buffalo, cattle, goats, and sheep by Shreya Malhotra, Priyanka Singh, Aseem Tara, Bosco Jose, Devika Gautam, Ram Prasad, Gaurav Tripathi, Sacchinandan De, Naresh L. Selokar

“…Previously, we custom-designed a transfection buffer to deliver exogenous genetic components into mammalian cells. In the present study, we examined the effect of the developed buffer on transfection rates and cell viability of primary somatic cells from buffalo, cattle, goats, and sheep. …”
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