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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Pathogenicity of germline VHL variants is associated with renal cell carcinoma size in von Hippel-Lindau disease by Gustavo H. Mori, Gustavo F. C. Fagundes, Lucas S. Santana, Felipe Freitas-Castro, Ana Caroline F. Afonso, Delmar M. Lourenço Jr., Maria Adelaide A. Pereira, Fabio Y. Tanno, Victor Srougi, Jose L. Chambo, Mauricio D. Cordeiro, William C. Nahas, Ana O. Hoff, Maria Candida B. V. Fragoso, Berenice B. Mendonca, Ana Claudia Latronico, Madson Q. Almeida

“…ABSTRACT Objective: In this study, our aim was to search for new genotype-phenotype correlations in patients with Von Hippel-Lindau (VHL) disease. …”
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Magnitude of Multidrug Resistance among Bacterial Isolates from Surgical Site Infections in Two National Referral Hospitals in Asmara, Eritrea by Eyob Yohannes Garoy, Yacob Berhane Gebreab, Oliver Okoth Achila, Nobiel Tecklebrhan, Hermon Michael Tsegai, Alex Zecarias Hailu, Abrehet Marikos Buthuamlak, Tewelde Ghide Asfaga, Mohammed Elfatih Hamida

“…All the Staphylococcus aureus isolates were resistant to penicillin. MRSA phenotype was observed in 70% of the isolates. Vancomycin, clindamycin, and erythromycin resistance were observed in 60%, 25%, and 25% of the isolates, respectively. …”
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Antimicrobials profiling, biofilm formation, and clonal lineage of methicillin-resistant Staphylococcus aureus isolated from cockroaches by Yasin Saberi, Mehrdad Halaji, Mohsen Karami, Jalal Jafarzadeh, Kasra Javadi, Hoda Shirafkan, Abazar Pournajaf

“…However, 96 % of the isolates displayed inducible clindamycin resistance (iMLSB phenotype) when tested using the D-test. The prevalence of icaA, icaB, icaC, and icaD genes were 34 %, 8 %, 0 %, and 0 %, respectively. …”
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Physiological responses to water deficiency in bread wheat (Triticum aestivum L.) lines with genetically different leaf pubescence by S. V. Osipova, A. V. Rudikovskii, A. V. Permyakov, E. G. Rudikovskaya, M. D. Permyakova, V. V. Verkhoturov, T. A. Pshenichnikova

“…The aim of the work was to assess resistance of common wheat genotypes with different composition and allelic state of genes that determine the leaf pubescence phenotype. We compared the drought resistance wheat variety Saratovskaya 29 (S29) with densely pubescent leaves, carrying the dominant alleles of the Hl1 and Hl3 genes, and two near isogenic lines, i: S29 hl1, hl3 and i: S29 Hl2aesp, with the introgression of the additional pubescence gene from diploid species Aegilops speltoides. …”
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Chemerin-9 is neuroprotective in APP/PS1 transgenic mice by inhibiting NLRP3 inflammasome and promoting microglial clearance of Aβ by Jiawei Zhang, Yaxuan Zhang, Lan Liu, Mengyuan Zhang, Xiaojie Zhang, Jiangshan Deng, Fei Zhao, Qing Lin, Xue Zheng, Bing Fu, Yuwu Zhao, Xiuzhe Wang

“…Conclusions Collectively, our data demonstrate that chemerin-9 ameliorates cognitive deficits in APP/PS1 transgenic mice by boosting a neuroprotective microglial phenotype. Graphical Abstract…”
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Expression of Leptin Receptor and Effects of Leptin on Papillary Thyroid Carcinoma Cells by Marilena Celano, Valentina Maggisano, Saverio Massimo Lepore, Marialuisa Sponziello, Valeria Pecce, Antonella Verrienti, Cosimo Durante, Marianna Maranghi, Piernatale Lucia, Stefania Bulotta, Giuseppe Damante, Diego Russo

“…These results demonstrate leptin’s role in mildly increasing the aggressive phenotype of PTC cells but without influencing the action of lenvatinib. …”
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Arctiin alleviates knee osteoarthritis by suppressing chondrocyte oxidative stress induced by accumulated iron via AKT/NRF2/HO-1 signaling pathway by Junzheng Yang, Delong Chen, Qi He, Baihao Chen, Zhaofeng Pan, Gangyu Zhang, Miao Li, Shaocong Li, Jiacong Xiao, Haibin Wang, Peng Chen, Zhantian An

“…Micro-CT and Safranin O-Fast Green staining were used to detect the phenotype of the knee joints. ARC increased cell viability and inhibited chondrocyte apoptosis. …”
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A Plasma Proteomic Approach in Rett Syndrome: Classical versus Preserved Speech Variant by Alessio Cortelazzo, Roberto Guerranti, Claudio De Felice, Cinzia Signorini, Silvia Leoncini, Alessandra Pecorelli, Claudia Landi, Luca Bini, Barbara Montomoli, Claudia Sticozzi, Lucia Ciccoli, Giuseppe Valacchi, Joussef Hayek

“…Aim of the study was to unveil possible relationships between plasma proteome and phenotypic expression in two cases of familial RTT represented by two pairs of sisters, harbor the same MECP2 gene mutation while being dramatically discrepant in phenotype, that is, classical RTT versus PSV. …”
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Can growth in captivity alter the calcaneal microanatomy of a wild ungulate? by Cottereau, Romain, Ortiz, Katia, Locatelli, Yann, Houssaye, Alexandra, Cucchi, Thomas

“…Using the calcaneus as a phenotypic marker through qualitative and quantitative 3D microanatomical analyses, we relied on a comparative study across wild boars (Sus scrofa) populations from controlled experimental conditions with different mobility patterns (natural habitat, large pen, and stall) and archaeological specimens collected from middle and late Mesolithic as surrogate for the norm of reaction in European wild boar phenotype before the spread of agriculture and domestic pigs. …”
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The role of the C5a-C5aR pathway in iron metabolism and gastric cancer progression by Qinxue Ni, Hong Yang, Hang Rao, Liyong Zhang, Mengyuan Xiong, Xiao Han, Boshao Deng, Lulu Wang, Jian Chen, Yan Shi

“…First, it drives macrophage polarization toward the M2 phenotype, which has a strong iron-release capability. …”
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Correlations among PPAR𝜸, DNMT1, and DNMT3B Expression Levels and Pancreatic Cancer by Valerio Pazienza, Francesca Tavano, Giorgia Benegiamo, Manlio Vinciguerra, Francesca Paola Burbaci, Massimiliano Copetti, Fabio Francesco di Mola, Angelo Andriulli, Pierluigi di Sebastiano

“…In conclusion, in vitro and in vivo PPARγ and DNMTs appear interrelated in PC, and this interaction might influence cell phenotype and disease behavior.…”
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Co-modulation of a circular form of PCDH11Y during neuroendocrine differentiation of prostate cancer by Giovanni Pecoraro, Ilaria Leone, Silvia Nuzzo, Santiago Negueruela, Giovanni Smaldone, Lorena Buono

“…Among them, a novel circRNA, circPCDH11Y, was highly upregulated during the transition of LNCaP cells from an epithelial to neuroendocrine phenotype, while its levels remained unchanged in DU145 cells. …”
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Long-Term Follow-Up, Association between CARD15/NOD2 Polymorphisms, and Clinical Disease Behavior in Crohn’s Disease Surgical Patients by Francesco Giudici, Tiziana Cavalli, Cristina Luceri, Edda Russo, Daniela Zambonin, Stefano Scaringi, Ferdinando Ficari, Marilena Fazi, Amedeo Amedei, Francesco Tonelli, Cecilia Malentacchi

“…CARD15/NOD2 is the most significant genetic susceptibility in Crohn’s disease (CD) even though a relationship between the different polymorphisms and clinical phenotype has not been described yet. The study is aimed at analyzing, in a group of CD patients undergoing surgery, the relationship between CARD15/NOD2 polymorphisms and the clinical CD behavior after a long-term follow-up, in order to identify potential clinical biomarkers of prognosis. …”
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Impact of eggshell membrane on metabolism and cell adhesion in oxidatively stressed canine chondrocytes by Juraj Vozar, Nikola Hudakova, Natalia Nosalova, Mykhailo Huniadi, Dana Marcincakova, Slavomir Hornak, Lubica Hornakova, Petra Majerova, Dasa Cizkova, Dasa Cizkova

“…In addition, the expression of key cartilage markers, including collagen types II and IX, and aggrecan, confirmed the retention of the chondrocyte phenotype. Under in vitro conditions, post-treatment with ESM improved chondrocyte viability, indicating that ESM may have a reparative role in mitigating oxidative damage. …”
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Brain glucose metabolism as a neuronal substrate of the abnormal behavioral response to stress in the mdx mouse, a model of Duchenne muscular dystrophy by Sébastien Goutal, Marion Lancien, François Rivier, Nicolas Tournier, Cyrille Vaillend

“…However, the neural substrates of this phenotype are still unknown. Here, we undertook the first functional imaging study of the mdx mouse brain, following expression of the typical unconditioned fear response expressed by mdx mice after a short scruff restraint and one week later after recovery from stress. …”
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The role of natural exosomes from SHED-MSC in immunoregulation of M0/M1 polarized macrophage cells by Ali Fallah, Abasalt Hosseinzadeh Colagar, Ayyoob Khosravi, Ayyoob Khosravi, Azadeh Mohammad-Hasani, Azadeh Mohammad-Hasani, Mohsen Saeidi, Mohsen Saeidi

“…In contrast, there was a reduction in pro-inflammatory and pro-oxidant markers, including CD80, CD81, IL-6R, IL-12, TNF-α, MDA, and NO, which act as immunostimulatory macromolecules (P < 0.05).DiscussionThe findings suggest that exosomes derived from SHED-MSC can skew M0/M1 macrophages to the M2 phenotype and inhibit M1 polarization. These nanovesicles, with their distinct physical properties and ability to penetrate target cells, may prove beneficial in conditions involving the depletion of M2 macrophages and M1 macrophage-induced diseases, potentially aiding in the reduction of inflammation and tissue injury.…”
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Soil warming increases the active antibiotic resistome in the gut of invasive giant African snails by Yiyue Zhang, Hong-Zhe Li, Martin Breed, Zhonghui Tang, Li Cui, Yong-Guan Zhu, Xin Sun

“…Results We show a significant increase in beta-lactam phenotypic resistance of active ARBs with rising soil temperatures, mirrored by a surge in beta-lactamase genes such as SHV, TEM, OCH, OKP, and LEN subtypes. …”
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Differential gene expression profile in Porphyromonas gingivalis treated human gingival keratinocytes and their role in the development of HNSCC by Dakshinya M, Anitha P, A.S. Smiline Girija, Paramasivam A, Vijayashree Priyadharsini J

“…Further investigations are warranted to confirm the functional role of these genes in establishing the cancer phenotype in patients with chronic infection with Pg.…”
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Dissecting Causal Relationships Between Antihypertensive Drug, Gut Microbiota, and Type 2 Diabetes Mellitus and Its Complications: A Mendelian Randomization Study by He Zheng, Shiping Wu, Wenbin Wang, Weida Qiu, Yingqing Feng

“…Sensitivity analysis, including reverse causality detection, horizontal pleiotropy, phenotype scanning, and Bayesian colocalization, was used to validate our findings. …”
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