Molecular and Cellular Probes最新文献

{"title":"Reference data on estrogen metabolome in healthy pregnancy","authors":"Gellért Karvaly ,&nbsp;Krisztián Kovács ,&nbsp;Marcell Gyarmatig ,&nbsp;Dóra Gerszi ,&nbsp;Sándor Nagy ,&nbsp;Dlovan Ali Jalal ,&nbsp;Zoltán Tóth ,&nbsp;Barna Vasarhelyi ,&nbsp;Béla Gyarmati","doi":"10.1016/j.mcp.2024.101953","DOIUrl":"10.1016/j.mcp.2024.101953","url":null,"abstract":"<div><h3>Introduction</h3><p>Estrogen hormones and their metabolites are implicated in the maintenance of healthy pregnancy and adequate fetal development. Abnormal levels were related to increased risk of pregnancy complications, particularly preeclampsia. Our aims were (1) to develop a methodological platform for the comprehensive assessment of estrogen metabolome in pregnancy; (2) to collect healthy reference data for relevant elements of estrogen metabolome in each trimester; (3) to assess unconjugated fractions of the estrogen metabolome, (4) to assess the dominant metabolic pathways of estrogen compounds.</p></div><div><h3>Methods</h3><p>We enrolled healthy pregnant mothers between gestational week 5–15 (on the confirmation of pregnancy; 79 samples), gestational weeks 19–27 (70 samples), and gestational week 34–39 (54 samples). A method employing liquid chromatography-tandem mass spectrometry (LC-MS/MS) was developed to assess estrone, 17-beta-estradiol, estriol levels, and their metabolites as conjugated and unconjugated forms. Descriptive statistics were used to characterize the level of compounds in each trimester.</p></div><div><h3>Results</h3><p>Estrone, 17-beta-estradiol and estriol levels are dramatically increasing with the advancement of pregnancy. Measured levels were in a very wide range. 17-beta-estradiol is neither glucuronated nor sulphated. To the contrary, estriol and estrone are significantly conjugated; unconjugated fraction is &lt;15% of total hormone levels in any trimester. Regarding metabolism, 4-methoxy-estradiol and 17-epiestriol were not detected.</p></div><div><h3>Conclusion</h3><p>We concluded that (1) the levels of estrogen compounds and metabolites increase with advancing gestational age; (2) the wide ranges of levels challenge the establishment of a healthy reference range for clinical purposes; (3) 17-beta-estradiol is not conjugated significantly; (4) 4-methylation and 17-epimerization pathways of estrogens are negligible with our LC-MS/MS method.</p></div>","PeriodicalId":49799,"journal":{"name":"Molecular and Cellular Probes","volume":"74 ","pages":"Article 101953"},"PeriodicalIF":3.3,"publicationDate":"2024-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0890850824000057/pdfft?md5=ba410413cf027ee7cda25ae1cf16e4a1&pid=1-s2.0-S0890850824000057-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140023085","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of diagnostic potential of CD38 in rickets","authors":"Yongjie Xia ,&nbsp;Xiaoshuo Ye ,&nbsp;Wei Chen ,&nbsp;Chao You ,&nbsp;Chao Deng ,&nbsp;Yibiao Zhou","doi":"10.1016/j.mcp.2024.101950","DOIUrl":"10.1016/j.mcp.2024.101950","url":null,"abstract":"<div><h3>Background</h3><p>Rickets occurs in infants and children (aged 2 months to 3 years), compromising their skeletal development and damaging nervous, hematopoietic, immune, and other system functions. This study aimed to explore the significance of CD38 in rickets.</p></div><div><h3>Methods</h3><p>The microarray dataset GSE22523 was analyzed to obtain differentially expressed genes in rickets patients. A total of 36 rickets patients and healthy controls were recruited for the study, and their blood samples were collected, followed by detecting mRNA levels of CD38 using quantitative real-time polymerase chain reaction (qRT-PCR). Moreover, the significance of CD38 in rickets patients was analyzed by receiver operating characteristic (ROC) analysis, while the correlation between CD38 and 25-hydroxy-vitamin D (25OHD)/parathyroid hormone (PTH) was analyzed with Pearson's correlation.</p></div><div><h3>Results</h3><p>Results showed that CD38 mRNA levels and PTH contents were significantly increased in the rickets patients while 25OHD contents were decreased. Correlation analysis indicated that CD38 was positively correlated with PTH and negatively correlated with 25OHD in both serum and plasma samples of rickets patients. Moreover, ROC analysis showed that serum CD38 was 0.9005 (95 % CI: 0.8313–0.9696), and the AUCs of plasma CD38 was 0.7215 (95 % CI: 0.6031–0.8398) in differentiating rickets patients from healthy persons, advocating serum CD38 had better diagnostic value.</p></div><div><h3>Conclusion</h3><p>CD38 mRNA levels were upregulated in rickets patients and closely correlated with PTH and 25OHD contents, indicating CD38 might be a diagnostic marker of rickets patients. Further research on the diagnostic utility of CD38 is necessary for the diagnosis and treatment of ricketsin rickets in the future.</p></div>","PeriodicalId":49799,"journal":{"name":"Molecular and Cellular Probes","volume":"73 ","pages":"Article 101950"},"PeriodicalIF":3.3,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0890850824000021/pdfft?md5=d64d31238b2386f96b6b4ac05c51c6d1&pid=1-s2.0-S0890850824000021-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139491954","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Intrahepatic cholangiocarcinoma biomarkers: Towards early detection and personalized pharmacological treatments","authors":"Maurizio Capuozzo ,&nbsp;Mariachiara Santorsola ,&nbsp;Francesco Ferrara ,&nbsp;Claudia Cinque ,&nbsp;Stefania Farace ,&nbsp;Renato Patrone ,&nbsp;Vincenza Granata ,&nbsp;Andrea Zovi ,&nbsp;Guglielmo Nasti ,&nbsp;Alessandro Ottaiano","doi":"10.1016/j.mcp.2024.101951","DOIUrl":"https://doi.org/10.1016/j.mcp.2024.101951","url":null,"abstract":"<div><p>Cholangiocarcinoma (CCA) is a rare malignancy originating from the biliary tree and is anatomically categorized as intrahepatic (iCCA), perihilar, and extrahepatic or distal. iCCA, the second most prevalent hepatobiliary cancer following hepatocellular carcinoma (HCC), constitutes 5–20 % of all liver malignancies, with an increasing incidence. The challenging nature of iCCA, combined with nonspecific symptoms, often leads to late diagnoses, resulting in unfavorable outcomes. The advanced phase of this neoplasm is difficult to treat with dismal results. Early diagnosis could significantly reduce mortality attributed to iCCA but remains an elusive goal. The identification of biomarkers specific to iCCA and their translation into clinical practice could facilitate diagnosis, monitor therapy response, and potentially reveal novel interventions and personalized medicine. In this review, we present the current landscape of biomarkers in each of these contexts. In addition to CA19.9, a widely recognized biomarker for iCCA, others such as A1BG, CYFRA 21–1, FAM19A5, MMP-7, RBAK, SSP411, TuM2-PK, WFA, <em>etc.</em>, as well as circulating tumor DNA, RNA, cells, and exosomes, are under investigation. Advancing our knowledge and monitoring of biomarkers may enable us to improve diagnosis, prognostication, and apply treatments dynamically and in a more personalized manner.</p></div>","PeriodicalId":49799,"journal":{"name":"Molecular and Cellular Probes","volume":"73 ","pages":"Article 101951"},"PeriodicalIF":3.3,"publicationDate":"2024-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0890850824000033/pdfft?md5=34a9b1954e3ab966649bc816b4de14d2&pid=1-s2.0-S0890850824000033-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139503937","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Platelet-derived extracellular vesicles are associated with kidney injury in patients with urosepsis","authors":"Zepeng Zhu ,&nbsp;Xiaofeng Zhu ,&nbsp;Dong Wang ,&nbsp;Xun Lu ,&nbsp;Tiancheng Jiang ,&nbsp;Lei Zhang ,&nbsp;Ming Chen ,&nbsp;Aibing Yao ,&nbsp;Shuqiu Chen","doi":"10.1016/j.mcp.2024.101949","DOIUrl":"10.1016/j.mcp.2024.101949","url":null,"abstract":"<div><h3>Background</h3><p>There is increasing evidence that platelet-derived extracellular vesicles (PEVs) may be involved in the mechanisms of inflammatory storm and organ damage in sepsis. However, there are no available studies on PEVs and renal injury in patients with urosepsis.</p></div><div><h3>Methods</h3><p>We analyzed the concentration and ratio of PEVs in plasma by flow cytometry and measured plasma IL-1β/IL-6/TNF-α/NGAL levels by ELISA. Correlation analysis was also used to examine the concentration of PEVs in relation to levels of inflammatory factors and indicators of kidney damage, as well as the severity of the disease. Finally, the receiver operating characteristic curves were produced for PEVs concentrations as a diagnosis of S-AKI/AKI.</p></div><div><h3>Results</h3><p>We found significantly higher levels of IL-1β/IL-6/TNF-α/NGAL in patients with urogenital sepsis. Furthermore, the concentrations of PEVs in plasma were significantly elevated in patients with urosepsis, especially in patients with Gram-negative bacterial infections, which were significantly and positively correlated with IL-1β/IL-6/TNF-α/NGAL levels. The area under the curve for PEVs diagnosing S-AKI and AKI was 0.746 [0.484, 1.000] and 0.943 [0.874, 1.000] respectively.</p></div><div><h3>Conclusion</h3><p>Overall, the present study suggested that PEVs may mediate the release of inflammatory mediators in patients with urosepsis and participate in the mechanism of acute kidney injury, as well as having potential as diagnostic indicators of S-AKI and AKI and as early warning indicators of the severity of patients with urosepsis.</p></div>","PeriodicalId":49799,"journal":{"name":"Molecular and Cellular Probes","volume":"73 ","pages":"Article 101949"},"PeriodicalIF":3.3,"publicationDate":"2024-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S089085082400001X/pdfft?md5=1bddb040b14a76297370def6e3cf2f33&pid=1-s2.0-S089085082400001X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139433059","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pancancer analysis uncovers an immunological role and prognostic value of the m6A reader IGF2BP2 in pancreatic cancer","authors":"Hui Deng ,&nbsp;Hanming Yao ,&nbsp;Shurui Zhou ,&nbsp;Chong He ,&nbsp;Yuzhou Huang ,&nbsp;Yunlong Li ,&nbsp;Hanwei Chen ,&nbsp;Jianchang Shu","doi":"10.1016/j.mcp.2023.101948","DOIUrl":"10.1016/j.mcp.2023.101948","url":null,"abstract":"<div><h3>Introduction</h3><p>Pancreatic ductal adenocarcinoma (PDAC) is one of the most malignant gastrointestinal tumors worldwide with a dismal prognosis and high relapse rate. PDAC is considered a “cold cancer” for which immunotherapy is not effective. Therefore, to improve the prognosis for PDAC patients, it is urgent to explore the mechanism driving its insensitivity to immunotherapy.</p></div><div><h3>Materials and methods</h3><p>We conducted pancancer analyses to test IGF2BP family expression and survival in patients with different cancers via TCGA and GETx databases. Then, we determined the immunological role and prognostic value of IGF2BP2 in vitro, in vivo and in clinical specimens.</p></div><div><h3>Results</h3><p>In the present study, we found that the m6A reader IGF2BP2 was the most clinically relevant member of the IGF2BP family for pancreatic cancer. High expression of IGF2BP2 was most associated with poor prognosis and an immunosuppressive microenvironment in PDAC. By IGF2BP2 knockdown, we found that tumor cell proliferation and invasive ability were significantly diminished. Importantly, we found that IGF2BP2 expression was closely associated with high expression of immunosuppressive molecules such as PD-L1. IGF2BP2 modulated downstream PD-L1 expression by regulating its mRNA stability via m6A methylation control, and we obtained the same verification in animal experiments and human tissue specimens.</p></div><div><h3>Conclusion</h3><p>Our study contributes to existing knowledge regarding the IGF2BP2-regulated PD-L1 signaling pathway as a potential prognostic and immune biomarker in pancreatic cancer.</p></div>","PeriodicalId":49799,"journal":{"name":"Molecular and Cellular Probes","volume":"73 ","pages":"Article 101948"},"PeriodicalIF":3.3,"publicationDate":"2023-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0890850823000579/pdfft?md5=be2627aed2985fa7c6a7273fcd194d0a&pid=1-s2.0-S0890850823000579-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138832645","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recombinant Slit2 attenuates tracheal fibroblast activation in benign central airway obstruction by inhibiting the TGF-β1/Smad3 signaling pathway","authors":"Chunyan He ,&nbsp;Lei Gu ,&nbsp;Anmao Li ,&nbsp;Yishi Li ,&nbsp;Rui Xiao ,&nbsp;Jiaxin Liao ,&nbsp;Junhao Mu ,&nbsp;Yiling Gan ,&nbsp;Mingyu Peng ,&nbsp;Giri Mohan ,&nbsp;Wei Liu ,&nbsp;Li Xu ,&nbsp;Shuliang Guo","doi":"10.1016/j.mcp.2023.101947","DOIUrl":"10.1016/j.mcp.2023.101947","url":null,"abstract":"<div><p>Airway fibrosis is among the pathological manifestations of benign central airway obstruction noted in the absence of effective treatments and requires new drug targets to be developed. Slit guidance ligand 2–roundabout guidance receptor 1 (Slit2–Robo1) is involved in fibrosis and organ development. However, its significance in airway fibrosis has not yet been reported. The study explored how the recombinant protein Slit2 functions in transforming growth factor-β1 (TGF-β1)-mediated airway fibrosis <em>in vivo</em> and <em>in vitro</em>. In this study, Slit2 expression initially increased in the tracheal granulation tissues of patients with tracheobronchial stenosis but decreased in the fibrotic tissue. In primary rat tracheal fibroblasts (RTFs), recombinant Slit2 inhibited the expression of extracellular matrices such as Timp1, α-SMA, and COL1A2, whereas recombinant TGF-β1 promoted the expression of Robo1, α-SMA, and COL1A2. Slit2 and TGF-β1 played a mutual inhibitory role in RTFs. Slit2 supplementation and Robo1 downregulation inhibited excessive extracellular matrix (ECM) deposition induced by TGF-β1 in RTFs via the TGF-β1/Smad3 pathway. Ultimately, exogenous Slit2 and Robo1 knockdown-mediated attenuation of airway fibrosis were validated in a trauma-induced rat airway obstruction model. These findings demonstrate that recombinant Slit2 alleviated pathologic tracheobronchial healing by attenuating excessive ECM deposition. Slit2–Robo1 is an attractive target for further exploring the mechanisms and treatment of benign central airway obstruction.</p></div>","PeriodicalId":49799,"journal":{"name":"Molecular and Cellular Probes","volume":"73 ","pages":"Article 101947"},"PeriodicalIF":3.3,"publicationDate":"2023-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0890850823000567/pdfft?md5=cce6971073619e405574862ce424cc36&pid=1-s2.0-S0890850823000567-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138832646","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Real-time single-base specific detection of the Haemonchus contortus S168T variant associated with levamisole resistance using loop-primer endonuclease cleavage loop-mediated isothermal amplification","authors":"Alistair Antonopoulos ,&nbsp;Owen Higgins ,&nbsp;Stephen R. Doyle ,&nbsp;David Bartley ,&nbsp;Alison Morrison ,&nbsp;Maha Mansour Shalaby ,&nbsp;Julien Reboud ,&nbsp;Eileen Devaney ,&nbsp;Terry J. Smith ,&nbsp;Roz Laing ,&nbsp;Valentina Busin","doi":"10.1016/j.mcp.2023.101946","DOIUrl":"10.1016/j.mcp.2023.101946","url":null,"abstract":"<div><p><em>Haemonchus contortus</em> is a parasitic haematophagous nematode that primarily affects small ruminants and causes significant economic loss to the global livestock industry. Treatment of haemonchosis typically relies on broad-spectrum anthelmintics, resistance to which is an important cause of treatment failure. Resistance to levamisole remains less widespread than to other major anthelmintic classes, prompting the need for more effective and accurate surveillance to maintain its efficacy. Loop-primer endonuclease cleavage loop-mediated isothermal amplification (LEC-LAMP) is a recently developed diagnostic method that facilitates multiplex target detection with single nucleotide polymorphism (SNP) specificity and portable onsite testing. In this study, we designed a new LEC-LAMP assay and applied it to detect the levamisole resistance marker S168T in <em>H. contortus</em>. We explored multiplexing probes for both the resistant S168T and the susceptible S168 alleles in a single-tube assay. We then included a generic probe to detect the <em>acr-8</em> gene in the multiplex assay, which could facilitate the quantification of both resistance markers and overall genetic material from <em>H. contortus</em> in a single step. Our results showed promising application of these technologies, demonstrating a proof-of-concept assay which is amenable to detection of resistance alleles within the parasite population, with the potential for multiplex detection, and point-of-care application enabled by lateral flow end-point detection. However, further optimisation and validation is necessary.</p></div>","PeriodicalId":49799,"journal":{"name":"Molecular and Cellular Probes","volume":"73 ","pages":"Article 101946"},"PeriodicalIF":3.3,"publicationDate":"2023-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0890850823000555/pdfft?md5=3c7f110f86ae3d28b26553cb6d92c8b4&pid=1-s2.0-S0890850823000555-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138742578","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"USP5: Comprehensive insights into structure, function, biological and disease-related implications, and emerging therapeutic opportunities","authors":"Si-Ting Gao ,&nbsp;Xin Xin ,&nbsp;Zhuo-yuan Wang ,&nbsp;Yi-yang Hu ,&nbsp;Qin Feng","doi":"10.1016/j.mcp.2023.101944","DOIUrl":"https://doi.org/10.1016/j.mcp.2023.101944","url":null,"abstract":"<div><p>Ubiquitin specific protease 5 (USP5) is a vital deubiquitinating enzyme that regulates various physiological functions by removing ubiquitin chains from target proteins. This review provides an overview of the structural and functional characteristics of USP5. Additionally, we discuss the role of USP5 in regulating diverse cellular processes, including cell proliferation, apoptosis, DNA double-strand damage, methylation, heat stress, and protein quality control, by targeting different substrates. Furthermore, we describe the involvement of USP5 in several pathological conditions such as tumors, pathological pain, developmental abnormalities, inflammatory diseases, and virus infection. Finally, we introduce newly developed inhibitors of USP5. In conclusion, investigating the novel functions and substrates of USP5, elucidating the underlying mechanisms of USP5-substrate interactions, intensifying the development of inhibitors, and exploring the upstream regulatory mechanisms of USP5 in detail can provide a new theoretical basis for the treatment of various diseases, including cancer, which is a promising research direction with considerable potential. Overall, USP5 plays a critical role in regulating various physiological and pathological processes, and investigating its novel functions and regulatory mechanisms may have significant implications for the development of therapeutic strategies for cancer and other diseases.</p></div>","PeriodicalId":49799,"journal":{"name":"Molecular and Cellular Probes","volume":"73 ","pages":"Article 101944"},"PeriodicalIF":3.3,"publicationDate":"2023-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0890850823000531/pdfft?md5=4cb89efb6488575dc0b63e99441a4181&pid=1-s2.0-S0890850823000531-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138480194","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"MiR-486-5p inhibits the proliferation of leukemia cells and induces apoptosis through targeting FOXO1","authors":"Hui Liu,&nbsp;Zengfeng Ni,&nbsp;Lili Shi,&nbsp;Lijie Ma,&nbsp;Jianqiang Zhao","doi":"10.1016/j.mcp.2023.101943","DOIUrl":"10.1016/j.mcp.2023.101943","url":null,"abstract":"","PeriodicalId":49799,"journal":{"name":"Molecular and Cellular Probes","volume":"72 ","pages":"Article 101943"},"PeriodicalIF":3.3,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S089085082300052X/pdfft?md5=13e0653b14da557e1826a7b0995575a9&pid=1-s2.0-S089085082300052X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138296298","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prenatal and postnatal genetic testing toward personalized care: The non-invasive perinatal testing","authors":"Lilla Botos ,&nbsp;Erzsébet Szatmári ,&nbsp;Gyula Richárd Nagy","doi":"10.1016/j.mcp.2023.101942","DOIUrl":"10.1016/j.mcp.2023.101942","url":null,"abstract":"<div><p>This article investigates how non-invasive prenatal testing and the incorporation of genomic sequencing into newborn screening postnatally are transforming perinatal care. They improve the accuracy of prenatal and neonatal screening, allowing for early interventions and personalized therapies. Non-invasive prenatal testing before birth and saliva-sample-based newborn genomic sequencing after birth can be collectively referred to as non-invasive perinatal testing. Non-invasive prenatal testing is particularly useful for aneuploidy, whereas performance markers worsen as DNA abnormalities shrink in size. Screening for clinically actionable diseases in childhood would be crucial to personalized medical therapy, as the postnatal period remains appropriate for screening for the great majority of monogenic disorders. While genomic data can help diagnose uncommon diseases, challenges like ethics and equity necessitate joint approaches for appropriate integration in this revolutionary journey toward personalized care.</p></div>","PeriodicalId":49799,"journal":{"name":"Molecular and Cellular Probes","volume":"72 ","pages":"Article 101942"},"PeriodicalIF":3.3,"publicationDate":"2023-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0890850823000518/pdfft?md5=d67dd8049ca5e47bbe120d75f0c859e3&pid=1-s2.0-S0890850823000518-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89720267","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}