Genetic variation reveals the therapeutic potential of BRSK2 in idiopathic pulmonary fibrosis by Zhe Chen, Mingyang Tang, Nan Wang, Jiangjiang Liu, Xiaoyan Tan, Haitao Ma, Jing Luo, Kai Xie

“…Colocalization analysis and phenotype scan deepened the pathogenic association of BRSK2 with IPF, while methylation MR analysis highlighted the critical role of epigenetic regulation in BRSK2-driven IPF pathogenesis. …”
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Genome-wide association study identifies four pan-ancestry loci for suicidal ideation in the Million Veteran Program. by Allison E Ashley-Koch, Nathan A Kimbrel, Xue J Qin, Jennifer H Lindquist, Melanie E Garrett, Michelle F Dennis, Lauren P Hair, Jennifer E Huffman, Daniel A Jacobson, Ravi K Madduri, Hilary Coon, Anna R Docherty, Jooeun Kang, Niamh Mullins, Douglas M Ruderfer, VA Million Veteran Program (MVP), MVP Suicide Exemplar Workgroup, International Suicide Genetics Consortium, Philip D Harvey, Benjamin H McMahon, David W Oslin, Elizabeth R Hauser, Michael A Hauser, Jean C Beckham

“…Suicidal ideation (SI) often precedes and predicts suicide attempt and death, is the most common suicidal phenotype and is over-represented in veterans. The genetic architecture of SI in the absence of suicide attempt (SA) is unknown, yet believed to have distinct and overlapping risk with other suicidal behaviors. …”
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MADS-box encoding gene Tunicate1 positively controls maize yield by increasing leaf number above the ear by Yan Li, Jian Wang, Shuyang Zhong, Qiang Huo, Qun Wang, Yunlu Shi, Hangqin Liu, Jiacheng Liu, Yang Song, Xiaojian Fang, Zhongwei Lin

“…The causative gene is the previously reported MADS-box domain-encoding gene Tunicate1 (Tu1), which is responsible for the phenotype of pod corn or Tunicate maize. We show that Tu1 can substantially increase the leaf number above the ear while maintaining the source‒sink balance. …”
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Marker-assisted selection in the development of advanced apple-tree forms and donors combining scab resistance with increased fruit storability by I. I. Suprun, E. A. Egorov, A. I. Nasonov, E. V. Lobodina, S. V. Tokmakov, I. V. Stepanov

“…The results of the phenotypic resistance assessment confirmed the correspondence of the resistant phenotype / dominant allele of the gene for most plants. …”
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Fetal and neonatal cardiac tumor diagnosed as Tuberous Sclerosis associated rhabdomyomas resulting from novel pathogenic missense variant detected in TSC2 gene: A case report by Aya Kawasaki, MD, Hidefumi Tonoki, MD, PhD, Osamu Sasaki, MD, PhD, Yoko Matsushita, MD, PhD, Michiko Watari, MD, PhD, Nobuhiro Takahashi, MD, Satoko Fujieda, MD

“…We speculate that this new missense variant in TSC2 gene with 30% mosaicism will be associated to the milder phenotype of TS since the regression of the rhabdomyomas is the only manifestation in this patient. …”
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Synergic Involvements of Microorganisms in the Biomedical Increase of Polyphenols and Flavonoids during the Fermentation of Ginger Juice by Christian Aimé Kayath, Armel Ibala Zamba, Saturnin Nicaise Mokémiabeka, Meddy Opa-Iloy, Paola Sandra Elenga Wilson, Moïse Doria Kaya-Ongoto, Rodd Jurah Mouellet Maboulou, Etienne Nguimbi

“…Using one-step PCR, multiplex techniques with specific primers, with yeast-like phenotype 27.27% (6), have been assigned among 22 isolates to Saccharomyces cerevisiae. …”
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Mutational Analysis of KCNQ1 Gene in Type 2 Diabetes Mellitus: A Case-control Study by Ankush Ganjewar, Ishwar B Bagoji, Sharan Badiger, Rudragouda B Bulagouda, Gurushnatappa Kadakol

“…All these mutations were observed in 3’ untranslated region and exhibited a benign phenotype. Conclusion: KCNQ1 gene is not associated with Type 2 DM. …”
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The challenge of a late diagnosis of Autism Spectrum Disorder: co-occurring trajectories and camouflage tendencies. a case report of a young Autistic female with Avoidant Restricti... by Sara Passarini, Sara Passarini, Silvia Guerrera, Maria Picilli, Maria Picilli, Elisa Fucà, Laura Casula, Deny Menghini, Sabine Pirchio, Valeria Zanna, Giovanni Valeri, Stefano Vicari, Stefano Vicari

“…After the diagnosis of ASD, L. underwent multiple evaluations to address emerging psychiatric co-occurrences and symptom exacerbation, and in order to develop the most effective integrated treatment.ConclusionThe case of L. expands the knowledge on the phenotype of Autistic females and exemplifies how delayed diagnosis may exacerbate functioning differences and increase the camouflage phenomenon. …”
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Aminoguanidine hemisulfate improves mitochondrial autophagy, oxidative stress, and muscle force in Duchenne muscular dystrophy via the AKT/FOXO1 pathway in mdx mice by Shiyue Sun, Tongtong Yu, Joo Young Huh, Yujie Cai, Somy Yoon, Hafiz Muhammad Ahmad Javaid

“…Although antioxidant treatments may improve the mdx phenotype, the precise molecular mechanisms remain unclear. …”
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Human parietal epithelial cells as Trojan horses in albumin overload by Giovanna Priante, Monica Ceol, Lisa Gianesello, Claudia Maria Radu, Rachele Mantese, Lucia Federica Stefanelli, Martina Cacciapuoti, Francesca K. Martino, Lorenzo Arcangelo Calò, Franca Anglani, Federico Nalesso, Dorella Del Prete

“…Due to several stimuli, PECs can change to a progenitor (CD24+ and CD133/2+) or a pro-sclerotic (CD44+) phenotype. In addition, PECs, which are constantly exposed to filtered albumin, are known to be involved in albumin internalization, but how this mechanism occurs is unknown. …”
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Imaging Flow Cytometric Identification of Chromosomal Defects in Paediatric Acute Lymphoblastic Leukaemia by Ana P. A. Simpson, Carly E. George, Henry Y. L. Hui, Ravi Doddi, Rishi S. Kotecha, Kathy A. Fuller, Wendy N. Erber

“…Copy number alterations and translocations could be detected even when the cell population comprised less than 1% of cells and included cells with a mature B-cell phenotype, i.e., CD19-positive, lacking CD34 and CD10. …”
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Molecular Detection of EMT Markers in Circulating Tumor Cells from Metastatic Non-Small Cell Lung Cancer Patients: Potential Role in Clinical Practice by Annalisa Milano, Francesca Mazzetta, Sabatino Valente, Danilo Ranieri, Laura Leone, Andrea Botticelli, Concetta Elisa Onesti, Salvatore Lauro, Salvatore Raffa, Maria Rosaria Torrisi, Paolo Marchetti

“…The RT-PCR-based approach for the evaluation of CTCsEMT phenotype could be a promising and inexpensive tool to predict the prognosis and the therapeutic response in NSCLC patients.…”
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HIV Progression Perturbs the Balance of the Cell-Mediated and Anti-Inflammatory Adaptive and Innate Mycobacterial Immune Response by Andrew R. DiNardo, Anna M. Mandalakas, Gugu Maphalala, Godwin Mtetwa, Temhlanga Mndzebele, Piluca Ustero, Makhosazana Hlatshwayo, Emily M. Mace, Jordan S. Orange, George Makedonas

“…As HIV disease progresses, both the adaptive and innate branches skew away from an inflammatory and towards anti-inflammatory phenotype.…”
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Discovery of robust and highly specific microbiome signatures of non-alcoholic fatty liver disease by Emmanouil Nychas, Andrea Marfil-Sánchez, Xiuqiang Chen, Mohammad Mirhakkak, Huating Li, Weiping Jia, Aimin Xu, Henrik Bjørn Nielsen, Max Nieuwdorp, Rohit Loomba, Yueqiong Ni, Gianni Panagiotou

“…Moreover, using these signatures coupled with further mediation analysis and metabolic dependency modeling, we propose synergistic defined microbial consortia associated with NAFLD phenotype in overweight and lean individuals, respectively. …”
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Estrogen Induces Metastatic Potential of Papillary Thyroid Cancer Cells through Estrogen Receptor α and β by Wenwu Dong, Hao Zhang, Jing Li, Haixia Guan, Liang He, Zhihong Wang, Zhongyan Shan, Weiping Teng

“…The effects of E2, PPT (a potent ERα-selective agonist), and DPN (a potent ERβ-selective agonist) on modulation of metastatic phenotype were determined by using in vitro scratch wound assay and invasion assay. …”
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Profiles of Killer Systems and Volatile Organic Compounds of Rowanberry and Rosehip-Inhabiting Yeasts Substantiate Implications for Biocontrol by Iglė Vepštaitė-Monstavičė, Juliana Lukša-Žebelovič, Violeta Apšegaitė, Raimondas Mozūraitis, Robertas Lisicinas, Ramunė Stanevičienė, Laima Blažytė-Čereškienė, Saulius Serva, Elena Servienė

“…This study identified dsRNA-encoded killer phenotypes in <i>S. cerevisiae</i>, <i>S. paradoxus</i>, and <i>Torulaspora delbrueckii</i>, revealing multiple distinct killer toxin types. …”
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Is Rhodamine 123 an Appropriate Fluorescent Probe to Assess P-Glycoprotein Mediated Multidrug Resistance in Vinblastine-Resistant CHO Cells? by Jordi Pétriz, José Enrique O’Connor, Mercè Carmona, Joan García‐López

“…It has been reported that functional assessment of the cationic dye rhodamine 123 (Rho123) efflux reveals accurately the drug‐resistant phenotype. To study cellular drug resistance, we have obtained a CHO‐K1 derived cell line resistant to vinblastine by means of multistep selection. …”
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A novel case of glial transdifferentiation in renal medullary carcinoma brain metastasis by Maria A. Gubbiotti, Ian E. McCutcheon, Priya Rao, Giannicola Genovese, Linghua Wang, Artem Tarasov, Vladislav Putintsev, Amber Berlinski, Danil Stupichev, Kirill Kriukov, Suren Davitavyan, Basim Salem, Alexander Sarachakov, Dmitry Lebedev, Michael Hensley, Alexander Bagaev, Francesca Paradiso, Vladimir Kushnarev, Gleb Khegai, Nizar M. Tannir, Pavlos Msaouel

“…The metastatic brain lesion harbored morphologic, immunohistochemical, and methylation profile supportive of a primary CNS phenotype with loss of the trimethylated lysine 27 residue of histone 3 while maintaining INI1 loss and a specific gene fusion shared with the patient’s tumor prior to initiation of tazemetostat therapy. …”
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The vestibular and oculomotor dysfunction in Fabry disease: a cohort study in China by Yinglin Leng, Yawen Zhao, Hong Zhou, Xia Ling, Xia Wang, Guiping Zhao, Wei Zhang

“…Therefore, we seek to evaluate these quantitatively and analyze their relationship with disease phenotype and biomarkers in FD.Methods This cohort study enrolled 37 Chinese FD patients registered in our center. …”
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Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families by Elisa Fermo, Cristina Vercellati, Anna Paola Marcello, Anna Zaninoni, Richard van Wijk, Nadia Mirra, Cristina Curcio, Agostino Cortelezzi, Alberto Zanella, Wilma Barcellini, Paola Bianchi

“…The concomitant defects did not aggravate the clinical phenotype; however, in one patient, the initial diagnosis of pyruvate kinase deficiency delayed the correct diagnosis of HX for many years and resulted in splenectomy followed by thrombotic complications. …”
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