Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease. by Magdaléna Neřoldová, Elżbieta Ciara, Janka Slatinská, Soňa Fraňková, Petra Lišková, Radana Kotalová, Janka Globinovská, Markéta Šafaříková, Lucie Pfeiferová, Hana Zůnová, Lenka Mrázová, Viktor Stránecký, Alena Vrbacká, Ondřej Fabián, Eva Sticová, Daniela Skanderová, Jan Šperl, Marta Kalousová, Tomáš Zima, Milan Macek, Joanna Pawlowska, A S Knisely, Stanislav Kmoch, Milan Jirsa

“…<h4>Results</h4>WES revealed biallelic variation in 3 ciliopathy genes (PKHD1, TMEM67 and IFT172) in 4 clinically unrelated index subjects (3 children and 1 adult), heterozygosity for a known variant in PPOX in one adult index subject, and homozygosity for an unreported splice-site variation in F11R in one child. Whereas phenotypes of the index patients with mutated PKHD1, TMEM67, and PPOX corresponded with those elsewhere reported, how F11R variation underlies liver disease remains unclear. …”
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Rapid Detection of Hybrid Maize Parental Lines Using Stacking Ensemble Machine Learning by M. Aqil, M. Azrai, M. J. Mejaya, N. A. Subekti, F. Tabri, N. N. Andayani, Rahma Wati, S. Panikkai, S. Suwardi, Z. Bunyamin, E. Roy, M. Muslimin, M. Yasin, E. Prakasa

“…The developed modern plant phenotyping model can be used to assist breeders/technicians in maintaining the quality of large-scale hybrid maize seed production activities in Indonesia.…”
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Comparison of Community-Associated and Health Care-Associated Methicillin-Resistant Staphylococcus aureus in Canada: Results from CANWARD 2007 by Kimberly A Nichol, Melissa McCracken, Melanie R DeCorby, Kristjan Thompson, Michael R Mulvey, James A Karlowsky, Daryl J Hoban, George G Zhanel

“…BACKGROUND: Community-associated methicillin-resistant Staphylococcus aureus (CA-MRSA) differ from health care-associated MRSA (HA-MRSA) in their genotypic and phenotypic characteristics. The purpose of the present study was to compare the demographics, antimicrobial susceptibilities and molecular epidemiology of CA-MRSA and HA-MRSA in Canada. …”
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Enabling regulatory policy globally will promote realization of the potential of animal biotechnology by Eric Hallerman, Justin Bredlau, Luiz Sergio A. Camargo, Maria Lucia Zaidan Dagli, Margaret Karembu, Daniel Kovich, Anne Ndanu Muia, Mariana L. Murrone, Pedro Jesus Rocha-Salavarrieta, Rhodora Romero-Aldemita, Mark Tizard, Mark Walton, Diane Wray-Cahen

“…Advances in animal biotechnology, especially genome editing, can accelerate the incorporation of valued phenotypes in animals, including enhanced yield, disease resistance, resilience to changing climate, and improved animal welfare, as well as food qualities valued by consumers. …”
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Factors influencing the natural history of non-IgE-mediated gastrointestinal food allergies in paediatric age: a prospective multicentre cohort study by Giorgio Bedogni, Roberto Berni Canani, Laura Carucci, Rita Nocerino, Serena Coppola, Pasqualina Capasso, Veronica Giglio

“…At 24-month follow-up, the rate of patients with allergic march was 0.46 (95% CI 0.38 to 0.55, n=57/123), without differences comparing the four phenotypes. The presence of multiple FAs at baseline was associated with an increased risk of developing allergic march (OR=2.22, 95% CI 1.07 to 4.61) at 24-month follow-up.Conclusions The results of the study suggest the potential role of modifiable and non-modifiable risk factors influencing the natural history of paediatric patients affected by non-IgE-GIFA.…”
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Mapping and Validation of Quantitative Trait Loci on Yield-Related Traits Using Bi-Parental Recombinant Inbred Lines and Reciprocal Single-Segment Substitution Lines in Rice (<i>Or... by Ghulam Ali Manzoor, Changbin Yin, Luyan Zhang, Jiankang Wang

“…., AIS and IAS, were genotyped by SSR markers and phenotyped in four environments with two replications. …”
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A bacterial membrane-disrupting protein stimulates animal metamorphosis by Kyle E. Malter, Tiffany L. Dunbar, Carl Westin, Emily Darin, Josefa Rivera Alfaro, Nicholas J. Shikuma

“…MACs can also deliver Mif1 to human cell lines and cause parallel phenotypes, including cell surface binding, membrane disruption, calcium flux, and mitogen-activated protein kinase activation. …”
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SUMO modified ETV1 promotes M2-polarized tumor-associated macrophage infiltration and cancer progression by facilitating CCL2 transcription in esophageal squamous cell carcinoma ce... by Tianci Han, Xiaoqi Guo, Junwei Xie, Wei Tong, Liang Zhang

“…Cell growth was detected by CCK-8 and colony formation assays. Macrophage phenotypes were determined using flow cytometry. Immunofluorescence double staining was used to detect the tumor-associated macrophage (TAM) infiltration. …”
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Polymorphisms and dental age in non-syndromic cleft lip and palate: a cross-sectional study by Gabriela Fonseca-Souza, Lhorrany Alves-Souza, Maria Angélica Hueb de Menezes-Oliveira, Nikolaos Daratsianos, Svenja Beisel-Memmert, Christian Kirschneck, Rafaela Scariot, Juliana Feltrin-Souza, Erika Calvano Küchler

“…The Student T-test was used to compare the variations in DA between the phenotypes “with CL ± P” and “without CL ± P”, and the ANOVA two-way test was performed to compare the variations in DA among the genotypes (α = 0.05). …”
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A leap forward: exploring the advantages of single-step genome evaluation in Italian Mediterranean buffalo by Stefano Biffani, Mayra Gómez, Roberta Cimmino, Dario Rossi, Gianluigi Zullo, Riccardo Negrini, Alberto Cesarani, Giuseppe Campanile, Gianluca Neglia

“…The aim of this study was to test the feasibility of ssGBLUP and to present the first results of the implementation of a genomic evaluation for production and type traits in the IMB. Phenotypic information on production (270-day milk, mozzarella yield (MY), protein and fat kg and %, respectively) and morphology: feet and legs (FL) and mammary system (MS) were used for this study. …”
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Correlation Analysis of Twig and Leaf Characteristics and Leaf Thermal Dissipation of <i>Hippophae rhamnoides</i> in the Riparian Zone of the Taohe River in Gansu Province, China by Qun Li, Min Ma, Yurui Tang, Tingting Zhao, Chengzhang Zhao, Bo Li

“…The co-variation of plant branches and leaves and the timely adjustment of thermal dissipation in photoheterogeneous habitats reflect the phenotypic plasticity mechanism and self-protection strategy of riparian plants in adapting to heterogeneous environments.…”
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Investigation of <i>ITGB3</i> Heterogeneity to Overcome Trastuzumab Resistance in HER2-Positive Breast Cancer by Asiye Busra Boz Er

“…Tumour heterogeneity, describing genetic, epigenetic, and phenotypic differences within and between tumours, complicates tumour treatment and contributes to drug resistance. …”
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The saprotrophic Pleurotus ostreatus species complex: late Eocene origin in East Asia, multiple dispersal, and complex speciation by Jing Li, Li-Hong Han, Xiao-Bin Liu, Zhi-Wei Zhao, Zhu L. Yang

“…However, species delimitation has long been problematic because of phenotypic plasticity and morphological stasis. In addition, the evolutionary history is poorly understood due to limited sampling and insufficient gene fragments employed for phylogenetic analyses. …”
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Genetic Profile and Associated Characteristics of 150 Korean Patients with Retinitis Pigmentosa by You Na Kim, Yoon Jeon Kim, Chang Ahn Seol, Eul-Ju Seo, Joo Yong Lee, Young Hee Yoon

“…Retinitis pigmentosa (RP) shows great diversity between genotypes and phenotypes, and it is important to identify the causative genes. …”
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Multi-ancestry genome-wide association analyses: a comparison of meta- and mega-analyses in the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study by Alan Kuang, Marie-France Hivert, M. Geoffrey Hayes, William L. Lowe, Denise M. Scholtens

“…Maternal fasting and 1-hr glucose and metabolomics measured during a 2-hr 75-gram oral glucose tolerance test during early third trimester pregnancy were evaluated as phenotypes. Results For the homogeneous ancestry meta-analysis pipeline, variant data were prepared by identifying sets of individuals with similar ancestry and imputing to ancestry-specific reference panels. …”
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Relationship between CTF1 gene expression and prognosis and tumor immune microenvironment in glioma by Hongqing Cai, Shen Tian, Angsi Liu, Guanchao Xie, Hongsheng Zhang, Xiaogang Wu, Jinghai Wan, Sai Li

“…Abstract Objective This study aimed to evaluate CTF1 expression in glioma, its relationship to patient prognosis and the tumor immune microenvironment, and effects on glioma phenotypes to identify a new therapeutic target for treating glioma precisely. …”
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Dissemination of clinical Escherichia coli harboring the mcr-1 gene in Pakistan by Sabahat Abdullah, Sabahat Abdullah, Muhammad Ahmad Mushtaq, Kalim Ullah, Brekhna Hassan, Mariya Azam, Mariya Azam, Muhammad Asif Zahoor, Juan Wang, Jianzhen Xu, Mark A. Toleman, Mashkoor Mohsin

“…This study aimed to determine the molecular characteristics of colistin-resistant Escherichia coli isolates in clinical settings in Pakistan.MethodsA total of 240 clinical E. coli strains isolated from urine and pus cultures were collected from two hospitals in Faisalabad and analyzed for phenotypic resistance to colistin by cultivation on CHROMagar plates supplemented with colistin 2 ug/ml. …”
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The role of inflammatory system genes in individual differences in nonverbal intelligence by R. F. Enikeeva, A. V. Kazantseva, Yu. D. Davydova, R. N. Mustafin, Z. R. Takhirova, S. B. Malykh, Y. V. Kovas, E. K. Khusnutdinova

“…As a result of a statistical analysis, rs1041981 and rs1800629 in the tumor necrosis factor gene (TNF) were shown to be associated with a phenotypic variance in nonverbal intelligence at the haplotype level (for АА-haplotype: βST = 1.19; p = 0.033; pperm = 0.047) in carriers of the “risky” APOE ε4 allele. …”
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Simplified Outcome Prediction in Patients Undergoing Transcatheter Tricuspid Valve Intervention by Survival Tree-Based Modelling by Vera Fortmeier, MD, Mark Lachmann, MD, Lukas Stolz, MD, Jennifer von Stein, MD, Karl-Philipp Rommel, MD, Mohammad Kassar, MD, Muhammed Gerçek, MD, Anne R. Schöber, MD, Thomas J. Stocker, MD, Hazem Omran, MD, Michelle Fett, Jule Tervooren, Maria I. Körber, MD, Amelie Hesse, Gerhard Harmsen, PhD, Kai Peter Friedrichs, MD, Shinsuke Yuasa, MD, PhD, Tanja K. Rudolph, MD, Michael Joner, MD, Roman Pfister, MD, Stephan Baldus, MD, Karl-Ludwig Laugwitz, MD, Stephan Windecker, MD, Fabien Praz, MD, Philipp Lurz, MD, Jörg Hausleiter, MD, Volker Rudolph, MD

“…The prognostic value of risk phenotypes was confirmed by external validation. Conclusions: This simple survival tree-based model effectively stratifies patients with severe TR into distinct risk categories, demonstrating significant differences in 2-year survival after TTVI.…”
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Exploring the genotypic potential of perilla (Perilla frutescens L.) for climate-resilient agriculture in the North Eastern Himalayas by Meraj Alam Ansari, Meraj Alam Ansari, Amit Kumar, T. P. Ahammed Shabeer, Alok Kumar, Subhra Saikat Roy, Subhra Saikat Roy, Majhrool Hak Ansari, Raghavendra Singh, Raghavendra Singh, Moirangthem Sangeeta, Jayanta Layek, Narendra Prakash, Vinay K. Mishra

“…To dissect the genetic basis, we evaluated 28 diverse genotypes of perilla across three growing seasons for eight agronomic traits and 16 biochemical traits, which revealed substantial phenotypic and biochemical variation. Agronomic traits displayed significant variability, with seed yield showing the highest coefficient of variation (CV), while leaf length showed the lowest CV. …”
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