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1

Caliò, Anna, Diego Segala, Enrico Munari, Matteo Brunelli, and Guido Martignoni. "MiT Family Translocation Renal Cell Carcinoma: from the Early Descriptions to the Current Knowledge." Cancers 11, no. 8 (2019): 1110. http://dx.doi.org/10.3390/cancers11081110.

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The new category of MiT family translocation renal cell carcinoma has been included into the World Health Organization (WHO) classification in 2016. The MiT family translocation renal cell carcinoma comprises Xp11 translocation renal cell carcinoma harboring TFE3 gene fusions and t(6;11) renal cell carcinoma harboring TFEB gene fusion. At the beginning, they were recognized in childhood; nevertheless, it has been demonstrated that these neoplasms can occur in adults as well. In the nineties, among Xp11 renal cell carcinoma, ASPL, PRCC, and SFPQ (PSF) were the first genes recognized as partners
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2

Stoch, SA, and JA Wagner. "Cathepsin K Inhibitors: A Novel Target for Osteoporosis Therapy." Clinical Pharmacology & Therapeutics 83, no. 1 (2007): 172–76. http://dx.doi.org/10.1038/sj.clpt.6100450.

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3

Caliò, Anna, Matteo Brunelli, Stefano Gobbo, et al. "Cathepsin K: A Novel Diagnostic and Predictive Biomarker for Renal Tumors." Cancers 13, no. 10 (2021): 2441. http://dx.doi.org/10.3390/cancers13102441.

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Cathepsin K is a papain-like cysteine protease with high matrix-degrading activity. Among several cathepsins, cathepsin K is the most potent mammalian collagenase, mainly expressed by osteoclasts. This review summarizes most of the recent findings of cathepsin K expression, highlighting its role in renal tumors for diagnostic purposes and as a potential molecular target. Indeed, cathepsin K is a recognized diagnostic tool for the identification of TFE3/TFEB-rearranged renal cell carcinoma, TFEB-amplified renal cell carcinoma, and pure epithelioid PEComa/epithelioid angiomyolipoma. More recentl
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4

Marchand-Adam, Sylvain, Marion Pronost, Ahlame Saidi, Fabien Lecaille, and Gilles Lalmanach. "Cathepsin K: both a likely biomarker and a new therapeutic target in lymphangioleiomyomatosis?" Rare Disease and Orphan Drugs Journal 2, no. 1 (2023): 3. http://dx.doi.org/10.20517/rdodj.2022.24.

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Lymphangioleiomyomatosis (LAM) is a rare disease which is characterized by cystic lung destruction and lymphangiomas, and is associated with a high risk of osteoporosis-related bone fractures. Its diagnosis is based on pulmonary anatomopathological criteria combined with chest computed tomography. VEGF-D is the only serum diagnostic biomarker used in clinic, while inhibition of the mTOR pathway by rapamycin is currently the only reference therapy for LAM. Human cathepsin K (CatK), a potent collagenase predominantly found in osteoclasts, is considered as a valuable target for anti-osteoporosis
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5

Gao, B., W. Chen, L. Hao, et al. "Inhibiting Periapical Lesions through AAV-RNAi Silencing of Cathepsin K." Journal of Dental Research 92, no. 2 (2012): 180–86. http://dx.doi.org/10.1177/0022034512468757.

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Dental caries, one of the most prevalent infectious diseases worldwide, affects approximately 80% of children and the majority of adults. Dental caries may result in endodontic disease, leading to dental pulp necrosis, periapical inflammation and bone resorption, severe pain, and tooth loss. Periapical inflammation may also increase inflammation in other parts of the body. Although many studies have attempted to develop therapies for this disease, there is still an urgent need for effective treatments. In this study, we applied a novel gene therapeutic approach using recombinant adeno-associat
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6

Weicker, Sean, Wanda Cromlish, Sonia Lamontagne, et al. "Cathepsin S in a Murine Model of Allergic Asthma (B108)." Journal of Immunology 178, no. 1_Supplement (2007): LB22—LB23. http://dx.doi.org/10.4049/jimmunol.178.supp.b108.

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Abstract Cathepsin S (Cat S), expressed predominately on antigen presenting cells, has been proposed as a therapeutic target for asthma. We used genetic and pharmacological tools to investigate the role of Cat S in murine models of allergic asthma. Mice null for Cat S were protected from OVA-induced pulmonary inflammation, but exhibited no protection from OVA-induced airway hyper-reactivity. To determine the role of Cat S during the challenge phase, we identified a potent and selective Cat S inhibitor, Compound A (Cpd A, IC50 mCat S = 0.6 nM, ≥470 fold selective vs mCat B, K, L), which inhibit
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7

Tchetina, E., G. Markova та A. Satybaldyev. "AB0183 DOWNREGULATION OF TUMOUR NECROSIS FACTOR α GENE EXPRESSION IN CULTURED PERIPHERAL BLOOD MONONUCLEAR CELLS IN THE PRESENCE OF TOFACITINIB PRIOR TO THERAPY AS A PROGNOSTIC BIOMARKER OF CLINICAL REMISSION IN PATIENTS WITH RHEUMATOID ARTHRITIS TREATED WITH TOFACITINIB". Annals of the Rheumatic Diseases 81, Suppl 1 (2022): 1221.1–1221. http://dx.doi.org/10.1136/annrheumdis-2022-eular.2578.

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BackgroundRheumatoid arthritis (RA) is a chronic inflammatory disease characterized by synovial hyperplasia, mononuclear cell infiltration, bone erosion and joint destruction. Recently we have shown that changes in energy generation-related gene expressions in the peripheral blood of tofacitinib (TOFA)-naïve patients with RA are associated with clinical response to treatment [1]. Therefore, considering metabolic status of patients with RA, may be useful for identification of prognostic biomarkers for personal responsiveness to TOFA therapy in TOFA-naïve RA patients by baseline gene expression
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8

Wang, Tong, Yan Guo, Xiao-Wei Shi, et al. "Acupotomy Contributes to Suppressing Subchondral Bone Resorption in KOA Rabbits by Regulating the OPG/RANKL Signaling Pathway." Evidence-Based Complementary and Alternative Medicine 2021 (April 26, 2021): 1–17. http://dx.doi.org/10.1155/2021/8168657.

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Subchondral bone lesions, as the crucial inducement for accelerating cartilage degeneration, have been considered as the initiating factor and the potential therapeutic target of knee osteoarthritis (KOA). Acupotomy, the biomechanical therapy guided by traditional Chinese meridians theory, alleviates cartilage deterioration by correcting abnormal mechanics. Whether this mechanical effect of acupotomy inhibits KOA subchondral bone lesions is indistinct. This study aimed to investigate the effects of acupotomy on inhibiting subchondral bone resorption and to define the possible mechanism in immo
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9

Zeisbrich, Markus, Rolando E. Yanes, Hui Zhang, et al. "Hypermetabolic macrophages in rheumatoid arthritis and coronary artery disease due to glycogen synthase kinase 3b inactivation." Annals of the Rheumatic Diseases 77, no. 7 (2018): 1053–62. http://dx.doi.org/10.1136/annrheumdis-2017-212647.

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ObjectivesAccelerated atherosclerotic disease typically complicates rheumatoid arthritis (RA), leading to premature cardiovascular death. Inflammatory macrophages are key effector cells in both rheumatoid synovitis and the plaques of coronary artery disease (CAD). Whether both diseases share macrophage-dependent pathogenic mechanisms is unknown.MethodsPatients with RA or CAD (at least one myocardial infarction) and healthy age-matched controls were recruited into the study. Peripheral blood CD14+ monocytes were differentiated into macrophages. Metabolic profiles were assessed by Seahorse Analy
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10

Gai, Dongzheng, Stewart JP, Xuxing Shen, et al. "CST6 Is a Small Autocrine Molecule That Targets Myeloma Growth and Bone Destruction." Blood 136, Supplement 1 (2020): 21. http://dx.doi.org/10.1182/blood-2020-140568.

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Bone destruction is a major complication of multiple myeloma (MM). Healthy bone is constantly remodeled through bone resorption by osteoclasts and bone formation by osteoblasts. New bone formation in MM is virtually non-existent, because differentiation of osteoblasts is inhibited by DKK1, a Wnt-β-catenin signaling inhibitor secreted by MM cells, reported by our group in NEJM, 2003. MM in its early stages is totally dependent on its microenvironment and for the hyperdiploid type MM this dependence is perpetual. Based on concordant gene expression signatures, predominantly driven by recurrent t
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11

Fiedlerová, Katarína. "Quo vadis fluorescenčná in situ hybridizácia?" Laboratórna Diagnostika XXIX, no. 1/2024 (2024): 64–69. https://doi.org/10.5281/zenodo.12531861.

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<strong>S&uacute;hrn</strong> S&uacute;časn&aacute; genetick&aacute; laborat&oacute;rna diagnostika disponuje bohatou &scaron;k&aacute;lou vy&scaron;etrovac&iacute;ch postupov od tzv. &bdquo; klasick&yacute;ch &ldquo; cytogenetick&yacute;ch met&oacute;d vr&aacute;tane FISH až po sekvenovania najnov&scaron;&iacute;ch gener&aacute;ci&iacute;. Atraktivita nov&yacute;ch modern&yacute;ch met&oacute;d a&nbsp;predpoklad ich diagnostickej a ekonomickej efektivity sp&ocirc;sobuj&uacute;, že s&uacute; star&scaron;ie diagnostick&eacute; met&oacute;dy ods&uacute;van&eacute; do &uacute;zadia a&nbsp;niekedy
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12

Thieltges, S., T. Kalinina, A. Krohn, et al. "Identification of chromosomal regions that harbor novel genes important for pancreatic cancer pathogenesis by genome-wide screening methods." Journal of Clinical Oncology 27, no. 15_suppl (2009): e15609-e15609. http://dx.doi.org/10.1200/jco.2009.27.15_suppl.e15609.

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e15609 Background: Pancreatic adenocarcinoma is a genetically highly complex and heterogenous tumor type with strong genetic instability which makes it resistant to therapy. Known amplifications of oncogenes such as KRAS or MYC and deletions of tumor suppresor genes such as CDKN2A and SMAD4 have demonstrated the importance of genetic alteration in this tumor type. Methods: We report the use of an Affymetrix Genome-Wide Human single nucleotide polymorphism (SNP) Array 6.0 (906,600 SNPs) to screen for gene copy number changes and allelic imbalances in 8 microdissected primary pancreatic tumors a
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13

Breitkreutz, Iris, Marc S. Raab, Sonia Vallet, et al. "Lenalidomide and Bortezomib: Targeting Osteoclastogenesis, Osteoclast Survival Factors, and Bone Remodeling Markers in Multiple Myeloma." Blood 110, no. 11 (2007): 1184. http://dx.doi.org/10.1182/blood.v110.11.1184.1184.

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Abstract Osteolytic bone disease in Multiple Myeloma (MM) is caused by enhanced osteoclast (OCLs) activation and inhibition of osteoblast function. Lenalidomide and bortezomib have shown promising anti-MM effects, and bortezomib has inhibitory effects on OCLs. However, the effect of lenalidomide on OCLs in MM and how bortezomib interferes with osteoclastogenesis is unknown. Here we investigated the effect of lenalidomide and bortezomib on human OCLs. Peripheral blood mononuclear cells (PBMC) from MM patients were stimulated with receptor activator of NFk-B ligand (RANKL) (50ng/ml) and M-CSF (2
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14

Chapiro, Elise, Damien Roos-Weil, Nadia Bougacha, et al. "Genetic Characterization of B-Cell Prolymphocytic Leukemia (B-PLL): A Hierarchical Prognostic Model Involving MYC and TP53 Abnormalities. on Behalf of the Groupe Francophone De Cytogenetique Hematologique (GFCH) and the French Innovative Leukemia Organization (FILO) Group." Blood 132, Supplement 1 (2018): 943. http://dx.doi.org/10.1182/blood-2018-99-115085.

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Abstract B-PLL is defined by the presence of prolymphocytes in peripheral blood exceeding 55% of lymphoid cells. The diagnosis, mainly based on clinical and morphological data, can be difficult because of overlap with other B-cell malignancies. Because of the rarity of the disease, only case reports and small series describe its cytogenetic features. Few prognostic markers have been identified in this aggressive leukemia usually resistant to standard chemo-immuno therapy. We report here the cytogenetic and molecular findings in a large series of B-PLL. We also studied the in vitro response to
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15

Nadeem, Omar, Sarah Nikiforow, Kevin DeBraganca, et al. "Early Safety and Efficacy of CAR-T Cell Therapy in Precursor Myeloma: Results of the CAR-PRISM Study Using Ciltacabtagene Autoleucel in High-Risk Smoldering Myeloma." Blood 144, Supplement 1 (2024): 1027. https://doi.org/10.1182/blood-2024-202676.

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Introduction: CAR-T cell therapy has been used in relapsed multiple myeloma (MM) with deep and durable responses but some patients still eventually relapse. We hypothesized that the use of Ciltacabtagene Autoleucel (cilta-cel), a BCMA-directed CAR T-cell therapy, can be safe and highly effective in patients with high-risk smoldering myeloma (HR-SMM), where the tumor burden is lower with less genomic complexity and the immune system is more fit, potentially leading to less toxicity and improved durable remissions in this high risk precursor condition. To our knowledge, this is the first study t
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16

Jaber, Diana, Natalie K. Heater, Sarah Marini, et al. "Abstract 4708: FGFR gene amplification and response to HER2-directed therapy in patients with HER2+ metastatic breast cancer (MBC)." Cancer Research 85, no. 8_Supplement_1 (2025): 4708. https://doi.org/10.1158/1538-7445.am2025-4708.

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Introduction: Amplification of fibroblast growth factor receptor (FGFR) signaling has been implicated in driving resistance to endocrine therapies and, more recently, HER2-directed therapies in vitro. While FGFR pathway dysregulation is well-established as a poor prognostic marker in hormone-positive BC, its impact in HER2+ BC is less clear. This study aims to investigate the association between FGFR amplification and clinical response to HER2-directed therapy in patients with HER2+ MBC. Methods: This study retrospectively analyzed 73 patients with HER2+ MBC by IHC/FISH and/or HER2+ CTCs who r
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17

Erdmann, Robert, Heather Jorgensen, Alexander Schultze, et al. "Axl Represents a Therapeutic Target In T315I-Mutated and WT Chronic Myeloid Leukemia." Blood 122, no. 21 (2013): 1469. http://dx.doi.org/10.1182/blood.v122.21.1469.1469.

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Abstract BCR-ABL1 inhibitors have revolutionized treatment of CML patients. However several drawbacks remain, including therapy resistance of T315I-mutated CML and incapability of current drugs to eliminate quiescent CML stem cells warranting development of novel therapies. In addition, drugs with the potential to enhance efficacy of BCR-ABL1 targeting agents could improve treatment of CML patients. Members of the Tyro3, Axl, Mer receptor (TAMR) tyrosine kinase family are abundantly expressed in physiological and malignant hematopoiesis and their ligand Gas6 can support hematopoietic (progenit
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18

Guglielmelli, Tommasina, Susanna Cappia, Emilia Giugliano, et al. "The AKT/mTOR/P70S6K/4EB-P1 Signaling Pathway Is Activated in a Subset of Multiple Myeloma Patients and Correlates with High Serum Levels of Beta2-Microglobulin." Blood 112, no. 11 (2008): 2716. http://dx.doi.org/10.1182/blood.v112.11.2716.2716.

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Abstract Introduction: The mammalian target of rapamycin (mTOR) is a serine/threonine-specific protein kinase, downstream of the phoshatidylinositol 3-kinase (P13-K/AKT) pathway. Constitutive activation of the mTOR related upstream and downstream effectors including P13-K, AKT, P70S6K and 4E-BP1 have been found in numerous malignancies. Previous studies demonstrated that rapamycin has preclinical potential as therapy for multiple myeloma (MM), especially when associated with other drugs. Methods. We performed immunohistochemical analysis with p-AKT (Ser 473), p-mTOR (Ser2448), p-P70S6K (Thr389
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19

Rohini, P. "Effect of the drug Diclofenac on the brain tissue of Channa punctatus." Biolife 8, no. 4 (2022): 1–4. https://doi.org/10.5281/zenodo.7275472.

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<strong>Abstract</strong> Pharmaceuticals are the biologically active compounds that are designed to exert specific action on the target molecules of human and veterinary animals. The erroneous use of these drugs has resulted in aquatic pollution. Diclofenac is a non-steroidal anti- inflammatory drug that has been usually detected in surface waters worldwide. There are investigations on the toxicity of this drug in aquatic flora and fauna. The acute toxic studies on the histological alterations in fish are very rare. The brain is an important organ which controls all functions of the body. The
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20

Heintel, Daniel, Arnold Bolomsky, Martin Schreder, et al. "High Expression of the Thalidomide-Binding Protein Cereblon (CRBN) Is Associated with Improved Clinical Response in Patients with Multiple Myeloma Treated with Lenalidomide and Dexamethasone." Blood 118, no. 21 (2011): 2879. http://dx.doi.org/10.1182/blood.v118.21.2879.2879.

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Abstract Abstract 2879 Background: Immunomodulatory drugs (IMiDs) are highly active in the treatment of multiple myeloma (MM), but the mechanisms of action are still not completely understood. Recently, cereblon (CRBN) has been identified as the primary target of thalidomide teratogenicity (Ito K et al, 2010) and, moreover as an essential requirement for IMiD therapy (Zhu YX et al, 2011). We wanted to investigate, if expression levels of CRBN could serve as a predictor of response. Patients and Methods: We measured CRBN mRNA expression in bone marrow samples of 44 well characterized MM patient
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Bloehdorn, Johannes, Julia Krzykalla, Billy Michael Chelliah Jebaraj, et al. "MYC Pathway Activation Is Frequently Observed in Treatment-Naive CLL and Defines a Subgroup with Particular Benefit from the Addition of Rituximab to Chemotherapy." Blood 132, Supplement 1 (2018): 1866. http://dx.doi.org/10.1182/blood-2018-99-116937.

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Abstract Background: The MYC proto-oncogene encodes a DNA-binding factor that can induce widespread changes in gene expression profiles (GEP). Activation of MYC is a hallmark of aggressive lymphomas and frequently observed in Richter transformation of CLL. In contrast, the role of MYC-related pathogenic networks is less clearly defined in untransformed CLL. Aims: We hypothesized that MYC activation in CLL could lead to specific GEP associated with aggressive disease. We combined the analysis of genomic copy number alterations (CNA) and GEP involved in MYC pathway activation on specimens from p
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22

Caliò, Anna, Stefano Marletta, Giulio Settanni, et al. "mTOR eosinophilic renal cell carcinoma: a distinctive tumor characterized by mTOR mutation, loss of chromosome 1, cathepsin-K expression, and response to target therapy." Virchows Archiv, November 8, 2023. http://dx.doi.org/10.1007/s00428-023-03688-2.

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AbstractIn the spectrum of oncocytic renal neoplasms, a subset of tumors with high-grade-appearing histologic features harboring pathogenic mutations in mammalian target of rapamycin (mTOR) and hitherto clinical indolent behavior has been described. Three cases (2F,1 M) with histologically documented metastases (lymph node, skull, and liver) were retrieved and extensively investigated by immunohistochemistry, FISH, and next-generation sequencing. Tumors were composed of eosinophilic cells with prominent nucleoli (G3 by ISUP/WHO) arranged in solid to nested architecture. Additionally, there wer
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23

Li, Xiaosa, Chao Fan, Jiale Wang, et al. "Follicle-stimulating hormone accelerates osteoclast migration by enhancing methyltransferase-like 3-mediated m6A methylation of cathepsin K." Journal of Molecular Endocrinology, January 2024. http://dx.doi.org/10.1530/jme-23-0130.

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Follicle-stimulating hormone (FSH) accelerates osteoporosis in postmenopausal women, while the underlying mechanism remains uncharacterized. N6-methyladenosine (m6A) is one of the most important regulations in the development of osteoporosis. In this study, we aimed to investigate the role of FSH in m6A modification, and osteoclast function. Here, we showed that FSH upregulated m6A levels in osteoclasts via stimulating methyltransferase-like 3 (METTL3) protein expression. FSH enhanced osteoclast migration, while the knockdown of METTL3 eliminated this enhancement. Both MeRIP-seq and RNA sequen
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Prakash, Om, Ruchi Singh, Namrata Singh, et al. "Anticancer potential of Naringenin, Biosynthesis, Molecular target, and structural perspectives." Mini-Reviews in Medicinal Chemistry 21 (September 13, 2021). http://dx.doi.org/10.2174/1389557521666210913112733.

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: Numerous novel medicinal agents isolated from plant sources were used as indigenous remedies for the management and treatment of various types of cancer diseases. Naringenin is a naturally occurring flavanone glycoside and aglycone (genin) moiety of naringin, predominantly found in citrus and grapefruits, has emerged as a potential therapeutic agent for the management of a variety of diseases. A huge number of scientific papers have been published on naringenin describing its detailed studies and its therapeutic application in different diseases. The current study highlights, a comprehensive
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25

Pisaniello, Huai Leng, Samuel L. Whittle, Susan Lester, et al. "Using the derived 28-joint disease activity score patient-reported components (DAS28-P) index as a discriminatory measure of response to disease-modifying anti-rheumatic drug therapy in early rheumatoid arthritis." BMC Rheumatology 6, no. 1 (2022). http://dx.doi.org/10.1186/s41927-022-00299-3.

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Abstract Background The 28-joint disease activity score (DAS28) is a widely used measure to assess disease activity in rheumatoid arthritis (RA). The DAS28-P index, a derived proportion of the patient-reported components (joint tenderness and patient global assessment) within the DAS28, has been utilized as a discriminatory measure of non-inflammatory pain mechanisms in RA. This study aimed to evaluate the use of the DAS28-P index as a predictor of treatment response in early RA. Methods Patients with early RA enrolled in a supplemental fish oil clinical trial received a combination of disease
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Dolomatov, S.I., та W. Zukow. "Эпигенетика почек = Kidneys epigenetics". 7 липня 2019. https://doi.org/10.5281/zenodo.3270754.

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<strong>Dolomatov S.I., Zukow W. </strong><strong>Эпигенетика почек</strong><strong> = Kidney</strong><strong>s</strong><strong> epigenetics</strong><strong>. </strong><strong>RSW. Radom,</strong><strong> 144 </strong><strong>p. ISBN </strong><strong>9780359774524</strong><strong>.</strong><strong> DOI </strong><strong>http://dx.doi.org/10.5281/zenodo.3270699</strong><strong> PBN Poland </strong><strong>https://pbn.nauka.gov.pl/sedno-webapp/works/917606</strong> &nbsp; &nbsp; &nbsp; &nbsp; &nbsp; <strong>Radomska Szkoła Wyższa w Radomiu, Radom, Poland</strong> &nbsp; &nbsp; &nbsp; &nbsp; &nbsp
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