Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population by Mohamed H. Al‐Hamed, Alya Qari, Lamya Alrayes, Mohammed Alotaibi, Zainab Al Masseri, Afaf Alotaibi, Abdullah AlAshwal, Zuhair N. AlHassnan, Afaf Alsagheir

“…Conclusion In this cohort, ES detected a diagnostic molecular abnormality in 90% of patients with PAI phenotypes. X‐linked inheritance is the most common cause of PAI and founder mutations likely contributed to a high diagnostic yield.…”
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Current Approach of Functioning Head and Neck Paragangliomas: Case Report of a Young Patient with Multiple Asynchronous Tumors by Alejandro Terrones-Lozano, Alan Hernández-Hernández, Edgar Nathal Vera, Gerardo Yoshiaki Guinto-Nishimura, Jorge Luis Balderrama-Bañares, Claudia Ramírez-Rentería, Judith de la Serna-Soto, Alfredo Adolfo Reza-Albarran, Lesly Portocarrero-Ortiz

“…However, different phenotypes can be observed depending on such germline mutations. …”
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NIPAL1 as a prognostic biomarker associated with pancreatic adenocarcinoma progression and immune infiltration by Youlong Zhu, Zongze Qi, Shaoqi Zu, Fangchao Yang, Yanming Wang, Lei Zhu, Xintong Li, Ruixue Li, Hong Zhu

“…In pancreatic cancer cell lines, changes in phenotypes such as proliferation, migration, and invasion following the knockdown of NIPAL1 were assessed. …”
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Systematic literature review on Calcium Pyrophosphate Deposition (CPPD) nomenclature: condition elements and clinical states— A Gout, Hyperuricaemia and Crystal-Associated Disease... by Georgios Filippou, Antonella Adinolfi, Emilio Filippucci, Nicola Dalbeth, Robert Terkeltaub, Tristan Pascart, Edoardo Cipolletta, Silvia Sirotti, Charlotte Jauffret, Sara Tedeschi, Daniele Cirillo, Luca Ingrao, Alessandro Lucia

“…The most common abbreviation was ‘CPPD’ in 312/390 (80.0%), but with different meanings. CPPD clinical phenotypes were often described as ‘pseudo-form’ labels.Conclusion Those results demonstrate the heterogeneity of labels used to describe CPPD condition concepts, with wide variation in condition labels in the medical literature. …”
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Pleiotropic effects of mutant huntingtin on retinopathy in two mouse models of Huntington's disease by Hui Xu, Anakha Ajayan, Ralf Langen, Jeannie Chen

“…We found qualitatively similar phenotypes between R6/1 and zQ175KI retinae that include the presence of mHTT aggregates in retinal neurons, cone loss, downregulation of rod signaling proteins and abnormally elongated photoreceptor connecting cilia. …”
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UK Biobank MRI data can power the development of generalizable brain clocks: A study of standard ML/DL methodologies and performance analysis on external databases by Marco Capó, Silvia Vitali, Georgios Athanasiou, Nicole Cusimano, Daniel García, Garth Cruickshank, Bipin Patel

“…For our analysis we used T1-weighted MRI scans and processed de novo all images via FastSurfer, transforming them into a conformed space for deep learning and extracting image-derived phenotypes for our machine learning approaches. We rigorously evaluated these approaches both as robust age predictors for healthy individuals and as potential biomarkers for various neurodegenerative conditions, leveraging data from the UK Biobank, ADNI, and NACC datasets. …”
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Pan-cancer characterization of m6A-mediated regulation of T cell exhaustion dynamics and clinical relevancies in human cancers by Weiping Ji, Ye Fang, Liwei Chen, Yitong Zheng, Yifei Pei, Changqiu Mei, Meng Zhou

“…Based on m6A-TEX interactions, three pan-cancer subtypes were identified, each with unique molecular profiles, immune phenotypes, and survival outcomes. The TexLm6AL subtype, characterized by low m6A activity and low TEX, correlated with high immune infiltration, increased cytolytic activity, and favorable survival, whereas the TexLm6AH and TexHm6AH subtypes with higher m6A activity were associated with poorer survival. …”
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Population variation in fatty acid composition and response to climatic factors in Malania oleifera Chun et S.K. Lee by Hongguo Li, Ruizhen Wang, Zuwei Tian, Bingjiang Zhou, Runmei Duan, Ran He, Leiming Dong

“…FAC was positively correlated with NVA and NVA was negatively correlated with OEA and DSA at both the population and phenotypic levels. This pattern was significantly divergent from those documented in tree species with low NVA yields. …”
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The clinical value and most informative threshold of polygenic risk score in the Quebec City Case-Control Asthma Cohort by Martin Pariès, Stéphanie Bougeard, Aida Eslami, Zhonglin Li, Michel Laviolette, Louis-Philippe Boulet, Evelyne Vigneau, Yohan Bossé

“…PRS was derived using LDpred2 and integrated with other asthma phenotypes by means of Principal Component Analysis with Optimal Scaling (PCAOS). …”
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Breastfeeding and Neonatal Age Influence Neutrophil-Driven Ontogeny of Blood Cell Populations in the First Week of Human Life by Sebastiano Montante, Rym Ben-Othman, Nelly Amenyogbe, Asimenia Angelidou, Anita van den Biggelaar, Bing Cai, Yixuan Chen, Alansana Darboe, Joann Diray-Arce, Rebecca Ford, Olubukola Idoko, Amy Lee, Mandy Lo, Kerry McEnaney, Mehrnoush Malek, David Martino, Geraldine Masiria, Oludare A. Odumade, William Pomat, Casey Shannon, Kinga Smolen, The EPIC Consortium, Al Ozonoff, Peter Richmond, Scott Tebbutt, Ofer Levy, Beate Kampmann, Ryan Brinkman, Tobias Kollmann

“…To identify factors that may impact the trajectory of immune development, we conducted stringently standardized, high-throughput phenotyping of peripheral white blood cell (WBC) populations from 796 newborns across two distinct cohorts (The Gambia, West Africa; Papua New Guinea, Melanesia) in the framework of a Human Immunology Project Consortium (HIPC) study. …”
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Astrocyte-derived exosomes regulate sperm miR-34c levels to mediate the transgenerational effects of paternal chronic social instability stress by Alexandre Champroux, Mitra Sadat-Shirazi, Xuan Chen, Jonathan Hacker, Yongjie Yang, Larry A. Feig

“…The effects of chronically stressing male mice can be transmitted across generations by stress-specific changes in their sperm miRNA content, which induce stress-specific phenotypes in their offspring. However, how each stress paradigm alters the levels of distinct sets of sperm miRNAs is not known. …”
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Genetic Parameters of Semen Traits and Their Correlations with Conformation Traits in Chinese Holstein Bulls by Xiao Wang, Jian Yang, Jie Xue, Miao Zhang, Fan Zhang, Kun Wang, Yanqin Li, Yuanpei Zhang, Xiaoping Wu, Feng Wang, Xiuxin Zhao, Junqing Ni, Yabin Ma, Rongling Li, Lingling Wang, Guosheng Su, Yundong Gao, Jianbin Li

“…The highest genetic correlations were found between semen volume per ejaculation (SVPE), semen concentration per ejaculation (SCPE), total number of sperm (TNS), and TNMS traits that were 0.97, 0.98, 1.00, and 0.99, respectively. Phenotypic correlations between SC and SVPE, SCPE, TNS, and TNMS were 0.35, 0.35, 0.48, and 0.42, respectively. …”
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Isolation and Characterization of Colistin-Resistant <i>Enterobacteriaceae</i> from Foods in Two Italian Regions in the South of Italy by Rosa Fraccalvieri, Angelica Bianco, Laura Maria Difato, Loredana Capozzi, Laura Del Sambro, Stefano Castellana, Adelia Donatiello, Luigina Serrecchia, Lorenzo Pace, Donatella Farina, Domenico Galante, Marta Caruso, Maria Tempesta, Antonio Parisi

“…This study aimed to assess the prevalence of colistin-resistant <i>Enterobacteriaceae</i> in raw and ready-to-eat food samples collected from two regions of Italy (Apulia and Basilicata) and to evaluate their resistance phenotypes and genetic characteristics. A total of 1000 food samples were screened, with a prevalence of 4.4% of colistin-resistant <i>Enterobacteriaceae</i>. …”
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Assessing genetic diversity and population structure of f4:f5 wheat genotypes using morphological and microsatellite markers under heat stress by Md. Zahid Hassan, M. Hasanuzzaman, Md. Jalil Uddin, Md Badsha Alomgir, Most. Salma Akter, Amorish Chandra Mohanto, Md. Omar Kayess

“…Plant height had the most significant direct effect at the genotypic level, while grain weight had the highest impact at the phenotypic level. A total of 77 alleles were identified with an average of 4.53 alleles per locus. …”
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Development and validation of a LAMP-based method for rapid and reliable detection of Xanthomonas albilineans, the causal agent of sugarcane leaf scald by Moutoshi Chakraborty, Moutoshi Chakraborty, Shamsul Arafin Bhuiyan, Shamsul Arafin Bhuiyan, Simon Strachan, Simon Strachan, Muhammad J. A. Shiddiky, Nam-Trung Nguyen, Rebecca Ford, Rebecca Ford

“…The presence of irregular symptoms makes traditional phenotypic detection difficult, and molecular methods necessitate costly equipment, labor, and extended sample-to-answer processing times.MethodsThis study introduces an innovative rapid DNA isolation method requiring no reagents, combined with an isothermal amplification-based assay for efficient detection of Xalb DNA in sugarcane xylem sap, leaf tissue, and meristematic tissue samples. …”
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Omics-Based Interaction Analysis Reveals Interplay of Chemical Pollutant (Ozone) and Photoradiation (UVSSR) Stressors in Skin Damage by Hong Zhang, Yiying Dong, Xue Xiao, Xiao Cui, Xuelan Gu

“…In summary, exposure to ozone in combination with UVSSR showed a joint effect on UVSSR-induced phenotypic changes in the skin; the underlying mechanism was determined by using transcriptome analysis, showing the additive impacts of ozone on UVSSR-induced skin damage, such as cellular stress and inflammatory responses. …”
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Impact of sleep deprivation on colon cancer: Unraveling the KynA-P4HA2-HIF-1α axis in tumor lipid metabolism and metastasis by Zuojie Peng, Jia Song, Wenzhong Zhu, Haijun Bao, Yuan Hu, Yongping Shi, Xukai Cheng, Mi Jiang, Feifei Fang, Jinhuang Chen, Xiaogang Shu

“…Furthermore, HILPDA was screened by transcriptomics, and its potential mechanism was explored through ChIP, co-IP, ubiquitination experiments, phenotyping experiments, etc. Results: Sleep deprivation promotes liver metastases in colon cancer. …”
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Statistical analysis plan for the LAST ACT clinical trial; a Leukotriene A4 hydrolase Stratified non-inferiority Trial of Adjunctive Corticosteroids for HIV-negative adults with Tu... by Joseph Donovan, Dong Huu Khanh Trinh, Ronald B. Geskus, Marcel Wolbers, Guy E. Thwaites, Nguyen Thuy Thuong Thuong, Le Thanh Hoang Nhat

“…However, benefit from corticosteroids in TBM may depend upon host leukotriene A4 hydrolase (LTA4H) genotype and the corresponding inflammatory phenotypes. This article describes the planned analyses for the primary publication of the results of the LAST ACT clinical trial (NCT03100786): ‘Leukotriene A4 hydrolase Stratified Trial of Adjunctive Corticosteroids for HIV-negative adults with Tuberculous meningitis’. …”
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Efflux Pump Activity and Mutations Driving Multidrug Resistance in Acinetobacter baumannii at a Tertiary Hospital in Pretoria, South Africa by Noel-David Nogbou, Granny M. Nkawane, Khanyisa Ntshane, Charles K. Wairuri, Dikwata T. Phofa, Kagiso K. Mokgokong, Mbudzeni Ramashia, Maphoshane Nchabeleng, Lawrence C. Obi, Andrew M. Musyoki

“…Conventional PCR amplification of the AdeABC efflux pump (adeB, adeS, and adeR) and quinolone (parC and gyrA) resistance genes were performed, followed by quantitative real-time PCR of AdeABC efflux pump genes. Phenotypic evaluation of efflux pump expression was performed by determining the difference between the MIC of tigecycline before and after exposure to an efflux pump inhibitor. …”
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Intrahospital dissemination of multidrug-resistant Acinetobacter baumannii at a teaching hospital in Northeast of Mexico by Samantha Villarreal-Cruz, Adrián Camacho-Ortiz, Samantha Flores-Treviño, Licet Villarreal-Treviño, Paola Bocanegra-Ibarias

“…Aim: The aim of this study was to analyse the dissemination of A. baumannii in two hospital buildings in Mexico through phenotypic and genotypic characterization of clinical isolates obtained for three years. …”
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