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1.
Nat Commun ; 15(1): 3889, 2024 May 08.
Artigo em Inglês | MEDLINE | ID: mdl-38719796

RESUMO

There is a growing demand for adsorption technologies for recovering and recycling precious metals (PMs) in various industries. Unfortunately, amine-functionalized polymers widely used as metal adsorbents are ineffective at recovering PMs owing to their unsatisfactory PM adsorption performance. Herein, a star-shaped, hydrazide-functionalized polymer (S-PAcH) is proposed as a readily recoverable standalone adsorbent with high PM adsorption performance. The compact chain structure of S-PAcH containing numerous hydrazide groups with strong reducibility promotes PM adsorption by enhancing PM reduction while forming large, collectable precipitates. Compared with previously reported PM adsorbents, commercial amine polymers, and reducing agents, S-PAcH exhibited significantly higher adsorption capacity, selectivity, and kinetics toward three PMs (gold, palladium, and platinum) with model, simulated, and real-world feed solutions. The superior PM recovery performance of S-PAcH was attributed to its strong reduction capability combined with its chemisorption mechanism. Moreover, PM-adsorbed S-PAcH could be refined into high-purity PMs via calcination, directly utilized (upcycled) as catalysts for dye reduction, or regenerated for reuse, demonstrating its high practical feasibility. Our proposed PM adsorbents would have a tremendous impact on various industrial sectors from the perspectives of environmental protection and sustainable development.

2.
Genes Genomics ; 2024 May 11.
Artigo em Inglês | MEDLINE | ID: mdl-38733518

RESUMO

BACKGROUND: Marine mammals, which have evolved independently into three distinct lineages, share common physiological features that contribute to their adaptation to the marine environment. OBJECTIVE: To identify positively selected genes (PSGs) for adaptation to the marine environment using available genomic data from three taxonomic orders: cetaceans, pinnipeds, and sirenians. METHODS: Based on the genomes within each group of Artiodactyla, Carnivora and Afrotheria, we performed selection analysis using the branch-site model in CODEML. RESULTS: Based on the branch-site model, 460, 614, and 359 PSGs were predicted for the cetaceans, pinnipeds, and sirenians, respectively. Functional enrichment analysis indicated that genes associated with hemostasis were positively selected across all lineages of marine mammals. We observed positive selection signals for the hemostasis and coagulation-related genes plasminogen activator, urokinase (PLAU), multimerin 1 (MMRN1), gamma-glutamyl carboxylase (GGCX), and platelet endothelial aggregation receptor 1 (PEAR1). Additionally, we found out that the sodium voltage-gated channel alpha subunit 9 (SCN9A), serine/arginine repetitive matrix 4 (SRRM4), and Ki-ras-induced actin-interacting protein (KRAP) are under positive selection pressure and are associated with cognition, neurite outgrowth, and IP3-mediated Ca2 + release, respectively. CONCLUSION: This study will contribute to our understanding of the adaptive evolution of marine mammals by providing information on a group of candidate genes that are predicted to influence adaptation to aquatic environments, as well as their functional characteristics.

3.
PLoS One ; 19(5): e0303433, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38743676

RESUMO

Triple-negative breast cancer (TNBC) demands urgent attention for the development of effective treatment strategies due to its aggressiveness and limited therapeutic options [1]. This research is primarily focused on identifying new biomarkers vital for immunotherapy, with the aim of developing tailored treatments specifically for TNBC, such as those targeting the PD-1/PD-L1 pathway. To achieve this, the study places a strong emphasis on investigating Ig genes, a characteristic of immune checkpoint inhibitors, particularly genes expressing Ig-like domains with altered expression levels induced by "cancer deformation," a condition associated with cancer malignancy. Human cells can express approximately 800 Ig family genes, yet only a few Ig genes, including PD-1 and PD-L1, have been developed into immunotherapy drugs thus far. Therefore, we investigated the Ig genes that were either upregulated or downregulated by the artificial metastatic environment in TNBC cell line. As a result, we confirmed the upregulation of approximately 13 Ig genes and validated them using qPCR. In summary, our study proposes an approach for identifying new biomarkers applicable to future immunotherapies aimed at addressing challenging cases of TNBC where conventional treatments fall short.


Assuntos
Biomarcadores Tumorais , Imunoterapia , Neoplasias de Mama Triplo Negativas , Humanos , Neoplasias de Mama Triplo Negativas/genética , Neoplasias de Mama Triplo Negativas/imunologia , Neoplasias de Mama Triplo Negativas/terapia , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/metabolismo , Imunoterapia/métodos , Linhagem Celular Tumoral , Feminino , Regulação Neoplásica da Expressão Gênica , Antígeno B7-H1/metabolismo , Antígeno B7-H1/genética , Receptor de Morte Celular Programada 1/antagonistas & inibidores , Receptor de Morte Celular Programada 1/metabolismo
4.
Head Neck ; 2024 May 07.
Artigo em Inglês | MEDLINE | ID: mdl-38712471

RESUMO

BACKGROUND: Despite advances in treatment, residual or recurrent tumors after definitive (chemo) radiotherapy for laryngeal and hypopharyngeal squamous cell carcinoma (SCC) remain a challenge in clinical management and require accurate and timely detection for optimal salvage therapy. This study aimed to compare the diagnostic value of Fluorine 18 (18F) fluorodeoxyglucose (FDG) positron emission tomography (PET)/computed tomography (CT) and diffusion-weighted magnetic resonance imaging (DW-MRI) in detecting residual or recurrent tumors after definitive (chemo) radiotherapy for laryngeal and hypopharyngeal SCC. METHODS: A prospective study was conducted on 30 patients who presented with new symptoms after definitive (chemo) radiotherapy for laryngeal (n = 21) and hypopharyngeal (n = 9) carcinoma. Both 18F-FDG PET/CT and DW-MRI were performed and histopathologic analysis served as the standard of reference. RESULTS: Histopathology showed 20 patients as positive and 10 as negative for tumors. 18F-FDG PET/CT detected all tumors correctly but was falsely positive in one case. DW-MRI detected tumors in 18 out of 20 positive patients and correctly excluded tumors in all negative patients. The sensitivity and specificity of 18F-FDG PET/CT were 100% and 90%, respectively, while the values for DW-MRI were 90% and 100%, respectively. CONCLUSIONS: The study concludes that 18F-FDG PET/CT is slightly superior to DW-MRI in detecting residual or recurrent tumors after definitive (chemo) radiotherapy for laryngeal and hypopharyngeal SCC. The combined use of 18F-FDG PET/CT and DW-MRI can potentially improve specificity in therapy response evaluation.

5.
Neurol Clin Pract ; 14(3): e200293, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38596779

RESUMO

Background and Objectives: In health care, large language models such as Generative Pretrained Transformers (GPTs), trained on extensive text datasets, have potential applications in reducing health care disparities across regions and populations. Previous software developed for lesion localization has been limited in scope. This study aims to evaluate the capability of GPT-4 for lesion localization based on clinical presentation. Methods: GPT-4 was prompted using history and neurologic physical examination (H&P) from published cases of acute stroke followed by questions for clinical reasoning with answering for "single or multiple lesions," "side," and "brain region" using Zero-Shot Chain-of-Thought and Text Classification prompting. GPT-4 output on 3 separate trials for each of 46 cases was compared with imaging-based localization. Results: GPT-4 successfully processed raw text from H&P to generate accurate neuroanatomical localization and detailed clinical reasoning. Performance metrics across trial-based analysis for specificity, sensitivity, precision, and F1-score were 0.87, 0.74, 0.75, and 0.74, respectively, for side; 0.94, 0.85, 0.84, and 0.85, respectively, for brain region. Class labels within the brain region were similarly high for all regions except the cerebellum and were also similar when considering all 3 trials to examine metrics by case. Errors were due to extrinsic causes-inadequate information in the published cases, and intrinsic causes-failures of logic or inadequate knowledge base. Discussion: This study reveals capabilities of GPT-4 in the localization of acute stroke lesions, showing a potential future role as a clinical tool in neurology.

6.
Environ Toxicol ; 39(6): 3500-3511, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38456238

RESUMO

Urban Particulate Matter (UPM) induces skin aging and inflammatory responses by regulating skin cells through the transient receptor potential vanilloid 1 (TRPV1). Although oleic acid, an unsaturated free fatty acid (FFA), has some functional activities, its effect on UPM-induced skin damage has not been elucidated. Here, we investigated signaling pathways on how oleic acid is involved in attenuating UPM induced cell damage. UPM treatment increased XRE-promoter luciferase activity and increased translocation of AhR to the nucleus, resulting in the upregulation of CYP1A1 gene. However, oleic acid treatment attenuated the UPM effects on AhR signaling. Furthermore, while UPM induced activation of TRPV1 and MAPKs signaling which activated the downstream molecules NFκB and AP-1, these effects were reduced by cotreatment with oleic acid. UPM-dependent generation of reactive oxygen species (ROS) and reduction of cellular proliferation were also attenuated by the treatment of oleic acid. These data reveal that cell damage induced by UPM treatment occurs through AhR signaling and TRPV1 activation which in turn activates ERK and JNK, ultimately inducing NFκB and AP-1 activation. These effects were reduced by the cotreatment of oleic acid on HaCaT cells. These suggest that oleic acid reduces UPM-induced cell damage through inhibiting both the AhR signaling and activation of TRPV1 and its downstream molecules, leading to a reduction of pro-inflammatory cytokine and recovery of cell proliferation.


Assuntos
Poluentes Atmosféricos , Ácido Oleico , Material Particulado , Espécies Reativas de Oxigênio , Receptores de Hidrocarboneto Arílico , Transdução de Sinais , Canais de Cátion TRPV , Canais de Cátion TRPV/metabolismo , Canais de Cátion TRPV/genética , Material Particulado/toxicidade , Ácido Oleico/farmacologia , Ácido Oleico/toxicidade , Humanos , Receptores de Hidrocarboneto Arílico/metabolismo , Transdução de Sinais/efeitos dos fármacos , Poluentes Atmosféricos/toxicidade , Espécies Reativas de Oxigênio/metabolismo , Linhagem Celular , Citocromo P-450 CYP1A1/metabolismo , Citocromo P-450 CYP1A1/genética , Fatores de Transcrição Hélice-Alça-Hélice Básicos/metabolismo , Fatores de Transcrição Hélice-Alça-Hélice Básicos/genética , NF-kappa B/metabolismo , Células HaCaT , Proliferação de Células/efeitos dos fármacos , Fator de Transcrição AP-1/metabolismo
7.
J Neurosci ; 44(16)2024 Apr 17.
Artigo em Inglês | MEDLINE | ID: mdl-38413232

RESUMO

Amyotrophic lateral sclerosis (ALS) is a debilitating neurodegenerative disorder marked by progressive motor neuron degeneration and muscle denervation. A recent transcriptomic study integrating a wide range of human ALS samples revealed that the upregulation of p53, a downstream target of inflammatory stress, is commonly detected in familial and sporadic ALS cases by a mechanism linked to a transactive response DNA-binding protein 43 (TDP-43) dysfunction. In this study, we show that prolonged interferon-gamma (IFNγ) treatment of human induced pluripotent stem cell-derived spinal motor neurons results in a severe cytoplasmic aggregation of TDP-43. TDP-43 dysfunction resulting from either IFNγ exposure or an ALS-associated TDP-43 mutation was associated with the activation of the p53 pathway. This was accompanied by the hyperactivation of neuronal firing, followed by the complete loss of their electrophysiological function. Through a comparative single-cell transcriptome analysis, we have identified significant alterations in ALS-associated genes in motor neurons exposed to IFNγ, implicating their direct involvement in ALS pathology. Interestingly, IFNγ was found to induce significant levels of programmed death-ligand 1 (PD-L1) expression in motor neurons without affecting the levels of any other immune checkpoint proteins. This finding suggests a potential role of excessive PD-L1 expression in ALS development, given that PD-L1 was recently reported to impair neuronal firing ability in mice. Our findings suggest that exposing motor neurons to IFNγ could directly derive ALS pathogenesis, even without the presence of the inherent genetic mutation or functional glia component. Furthermore, this study provides a comprehensive list of potential candidate genes for future immunotherapeutic targets with which to treat sporadic forms of ALS, which account for 90% of all reported cases.


Assuntos
Esclerose Lateral Amiotrófica , Células-Tronco Pluripotentes Induzidas , Animais , Humanos , Camundongos , Esclerose Lateral Amiotrófica/genética , Esclerose Lateral Amiotrófica/metabolismo , Esclerose Lateral Amiotrófica/patologia , Antígeno B7-H1/metabolismo , Biomarcadores , Proteínas de Ligação a DNA/genética , Células-Tronco Pluripotentes Induzidas/metabolismo , Interferon gama/metabolismo , Interferon gama/farmacologia , Neurônios Motores/efeitos dos fármacos , Neurônios Motores/metabolismo , Neurônios Motores/patologia , Proteína Supressora de Tumor p53/metabolismo
8.
9.
Exp Mol Med ; 56(1): 110-117, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38182654

RESUMO

Hair follicles, which are connected to sebaceous glands in the skin, undergo cyclic periods of regeneration, degeneration, and rest throughout adult life in mammals. The crucial function of hair follicle stem cells is to maintain these hair growth cycles. Another vital aspect is the activity of melanocyte stem cells, which differentiate into melanin-producing melanocytes, contributing to skin and hair pigmentation. Sebaceous gland stem cells also have a pivotal role in maintaining the skin barrier by regenerating mature sebocytes. These stem cells are maintained in a specialized microenvironment or niche and are regulated by internal and external signals, determining their dynamic behaviors in homeostasis and hair follicle regeneration. The activity of these stem cells is tightly controlled by various factors secreted by the niche components around the hair follicles, as well as immune-mediated damage signals, aging, metabolic status, and stress. In this study, we review these diverse stem cell regulatory and related molecular mechanisms of hair regeneration and disease conditions. Molecular insights would provide new perspectives on the disease mechanisms as well as hair and skin disorder treatment.


Assuntos
Folículo Piloso , Cabelo , Animais , Folículo Piloso/fisiologia , Pele , Melanócitos/metabolismo , Células-Tronco/metabolismo , Mamíferos
10.
Mitochondrial DNA B Resour ; 9(1): 123-127, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38259356

RESUMO

Quercus turbinella (section Quercus; Fagaceae) is an evergreen shrub characteristic in central Arizona and it concerns one of the most abundant and economically important genera of Quercus in the Northern Hemisphere. Here, we have sequenced the complete chloroplast genome to provide insight into the phylogenetic relationship of Q. turbinella. The whole genome is 161,208 bp in length with two inverted repeat regions of 25,827 bp each, which separate a large single-copy region of 90,552 bp and a small single-copy region of 19,002 bp. A total of 136 genes were annotated, including 88 protein-coding genes, eight ribosomal RNAs, and 40 transfer RNAs. The result of the maximum-likelihood phylogenetic analysis strongly suggested that Quercus turbinella had a close relationship to Quercus macrocarpa with strong bootstrap support.

11.
Heliyon ; 10(1): e23521, 2024 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-38173534

RESUMO

Approximately 50% of Merkel cell carcinoma (MCC) patients facing this highly aggressive skin cancer initially respond positively to PD-1-based immunotherapy. Nevertheless, the recurrence of MCC post-immunotherapy emphasizes the pressing need for more effective treatments. Recent research has highlighted Cyclin-dependent kinases 4 and 6 (CDK4/6) as pivotal cell cycle regulators gaining prominence in cancer studies. This study reveals that the CDK4/6 inhibitor, palbociclib can enhance PD-L1 gene transcription and surface expression in MCC cells by activating HIF2α. Inhibiting HIF2α with TC-S7009 effectively counteracts palbociclib-induced PD-L1 transcription and significantly intensifies cell death in MCC. Simultaneously, co-targeting CDK4/6 and HIF2α boosts ROS levels while suppressing SLC7A11, a key regulator of cellular redox balance, promoting ferroptosis- a form of immunogenic cell death linked to iron. Considering the rising importance of immunogenic cell death in immunotherapy, this strategy holds promise for improving future MCC treatments, markedly increasing immunogenic cell death various across various MCC cell lines, thus advancing cancer immunotherapy.

12.
Int J Stem Cells ; 17(1): 15-29, 2024 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-37879853

RESUMO

The development and differentiation of endothelial cells (ECs) are fundamental processes with significant implications for both health and disease. ECs, which are found in all organs and blood vessels, play a crucial role in facilitating nutrient and waste exchange and maintaining proper vessel function. Understanding the intricate signaling pathways involved in EC development holds great promise for enhancing vascularization, tissue engineering, and vascular regeneration. Hematopoietic stem cells originating from hemogenic ECs, give rise to diverse immune cell populations, and the interaction between ECs and immune cells is vital for maintaining vascular integrity and regulating immune responses. Dysregulation of vascular development pathways can lead to various diseases, including cancer, where tumor-specific ECs promote tumor growth through angiogenesis. Recent advancements in single-cell genomics and in vivo genetic labeling have shed light on EC development, plasticity, and heterogeneity, uncovering tissue-specific gene expression and crucial signaling pathways. This review explores the potential of ECs in various applications, presenting novel opportunities for advancing vascular medicine and treatment strategies.

13.
New Solut ; 33(4): 220-235, 2024 02.
Artigo em Inglês | MEDLINE | ID: mdl-38112404

RESUMO

Concerns about chemical exposure in the electronics manufacturing industry have long been recognized, but data are lacking in Southeast Asia. We conducted a study in Batam, Indonesia, to evaluate chemical exposures in electronics facilities, using participatory research and biological monitoring approaches. A convenience sample of 36 workers (28 exposed, 8 controls) was recruited, and urine samples were collected before and after shifts. Five solvents (acetone, methyl ethyl ketone, toluene, benzene, and xylenes) were found in 46%-97% of samples, and seven metals (arsenic, cadmium, cobalt, tin, antimony, lead, and vanadium) were detected in 60%-100% of samples. Biological monitoring and participatory research appeared to be useful in assessing workers' exposure when workplace air monitoring is not feasible due to a lack of cooperation from the employer. Several logistical challenges need to be addressed in future biomonitoring studies of electronics workers in Asia in factories where employers are reluctant to track workers' exposure and health.


Assuntos
Poluentes Ocupacionais do Ar , Exposição Ocupacional , Humanos , Solventes/análise , Exposição Ocupacional/análise , Monitoramento Biológico , Indonésia , Monitoramento Ambiental
14.
PLoS One ; 18(11): e0294602, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37972082

RESUMO

PURPOSE: This study aimed to identify the association between physical activity and health-related quality of life (HRQoL) in middle-aged and elderly individuals with musculoskeletal disorders. METHODS: This study used data from the 2016-2020 Korea National Health and Nutrition Examination Survey (KNHANES). We included only those over 40 years of age diagnosed with one or more of the following: osteoarthritis, rheumatism, and osteoporosis. In total, 4,731 participants (783 men and 3,948 women) were included as the study population. Multiple logistic regression analysis was performed to examine the association between physical activity and HRQoL. RESULTS: In the case of middle-aged and elderly individuals with musculoskeletal disorders, the likelihood of HRQoL worsening was significantly lower for those who regularly engaged in physical activity compared with that of those who did not engage in physical activity at all (men: OR 0.58, 95% CI 0.37-0.90; women: OR 0.64, 95% CI 0.53-0.79). Stratified analysis by the type and intensity of physical activity revealed that the possibility of poor HRQoL was lowest when leisure-related moderate-intensity physical activities were performed (men: OR 0.44, 95% CI 0.22-0.89; Women: OR 0.50, 95% CI 0.36-0.69). CONCLUSIONS: Our findings suggest that engaging in regular physical activity contributes to preventing exacerbation of HRQoL, even if the individual suffers from musculoskeletal disorders. It is necessary to provide an appropriate type and intensity of physical activity in consideration of the patients' pain and severity.


Assuntos
Osteoartrite , Qualidade de Vida , Masculino , Idoso , Pessoa de Meia-Idade , Humanos , Feminino , Adulto , Estudos Transversais , Inquéritos Nutricionais , Exercício Físico , República da Coreia/epidemiologia
15.
Front Microbiol ; 14: 1279544, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37933250

RESUMO

Acetogenic bacteria can utilize C1 compounds, such as carbon monoxide (CO), formate, and methanol, via the Wood-Ljungdahl pathway (WLP) to produce biofuels and biochemicals. Two novel acetogenic bacteria of the family Eubacteriaceae ES2 and ES3 were isolated from Eulsukdo, a delta island in South Korea. We conducted whole genome sequencing of the ES strains and comparative genome analysis on the core clusters of WLP with Acetobacterium woodii DSM1030T and Eubacterium limosum ATCC8486T. The methyl-branch cluster included a formate transporter and duplicates or triplicates copies of the fhs gene, which encodes formyl-tetrahydrofolate synthetase. The formate dehydrogenase cluster did not include the hydrogenase gene, which might be replaced by a functional complex with a separate electron bifurcating hydrogenase (HytABCDE). Additionally, duplicated copies of the acsB gene, encoding acetyl-CoA synthase, are located within or close to the carbonyl-branch cluster. The serum bottle culture showed that ES strains can utilize a diverse range of C1 compounds, including CO, formate, and methanol, as well as CO2. Notably, ES2 exhibited remarkable resistance to high concentrations of C1 substrates, such as 100% CO (200 kPa), 700 mM formate, and 500 mM methanol. Moreover, ES2 demonstrated remarkable growth rates under 50% CO (0.45 h-1) and 200 mM formate (0.34 h-1). These growth rates are comparable to or surpassing those previously reported in other acetogenic bacteria. Our study introduces novel acetogenic ES strains and describes their genetic and physiological characteristics, which can be utilized in C1-based biomanufacturing.

16.
Clin Psychopharmacol Neurosci ; 21(4): 686-692, 2023 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-37859441

RESUMO

Objective: : As dopamine is closely linked to locomotor activities, animal studies on locomotor activities using dopaminergic agents were widely done. However, most of animal studies were performed for a short period that there is a lack of longitudinal study on the effects of dopaminergic agents on locomotor activities. This study aimed to examine the longterm effect of a dopamine D2, D3 agonist quinpirole on locomotor activities in mice using a home-cage monitoring system. Methods: : The locomotor activities of Institute Cancer Research mice were measured by infrared motion detectors in home-cages under the 12-hour dark and 12-hour light condition for three days after the quinpirole injection. Quinpirole was injected at a concentration of 0.5 mg/kg intraperitoneally in the beginning of the dark phase. The locomotor activities before and after the quinpirole administration were compared by the Wilcoxon signed-rank test and one-way repeated measures ANOVA. Results: : After the quinpirole administration, the 24-hour total locomotor activity did not change (p = 0.169), but activities were significantly increased in the 12-hour dark phase sum (p = 0.013) and decreased in the 12-hour light phase sum (p = 0.009). Significant increases in the activities were observed in the dark-light difference (p = 0.005) and dark-light ratio (p = 0.005) as well. Conclusion: : This study suggests that quinpirole injection entrains the circadian rest-activity rhythm of locomotor activities. Therefore, quinpirole can be a drug that mediates locomotor activity as a dopamine agonist as well as a modulator of the circadian rhythms.

17.
Ann Clin Lab Sci ; 53(4): 667-670, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37625843

RESUMO

X-linked adrenal hypoplasia congenita (AHC) is caused predominantly by mutations in the NR0B1 (DAX1) gene. Among these, X-linked AHC due to a large deletion of NR0B1 is extremely rare. In Korea, the first case was reported in 2005, and there have been no further documented cases since then. Herein, we report a unique case of X-linked AHC caused by an entire gene deletion that includes the NR0B1 gene and seven other genes. A seven-day-old boy presented to a pediatric endocrine clinic with prolonged postnatal jaundice, skin hyperpigmentation, hyponatremia, and hyperkalemia, suggestive of an adrenal crisis. In genetic analysis, next-generation sequencing panel for congenital adrenal hyperplasia (CAH) showed no variants. However, chromosomal microarray results revealed large deletion of Xp21.2 (29,655,007_30,765,126) including eight protein-coding genes (NR0B1, IL1RAPL1, GK, MAGEB1-4, TASL). In cases of atypical adrenal insufficiency and genetically undiagnosed CAH, NR0B1-related AHC should be suspected, as Xp21 deletion is very rare and not detected in NGS, making microarray the best option for genetic diagnosis.


Assuntos
Sequenciamento de Nucleotídeos em Larga Escala , Masculino , Criança , Humanos , Hipoadrenocorticismo Familiar/genética , Deleção de Genes , Mutação , Receptor Nuclear Órfão DAX-1/genética
18.
J Hazard Mater ; 460: 132278, 2023 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-37619273

RESUMO

NOX rarely binds with labile oxygens of catalytic solids, whose Lewis acidic (LA) species possess higher binding strengths with NH3 (ENH3) and H2O than Brönsted acidic counterparts (BA--H+; -OH), oftentimes leading to elevate energy barrier (EBARRIER) and weaken H2O tolerance, respectively. These limit NH3-assisted wet NOX reduction via Langmuir-Hinshelwood-type or Eley-Rideal (ER)-type model on LA species, while leaving ER-type analogue on BA--H+ species proper to reduce wet NOX. Given hard-to-regulate strength/amount of -OH species and occasional association between ENH3 and EBARRIER, Ni1V2O6 (Ni1) was rationally chosen as a platform to isolate mono-dentate SO32-/SO42- species for use as BA--H+ bonds via protonation to increase collision frequency (k'APP,0) alongside with disclosure of advantages of SO32-/SO42--functionalized Ni1V2O6 (Ni1-S) over Ni1 in reducing wet NOX. Ni1-S outperformed Ni1 in achieving a larger BA--H+ quantity (k'APP,0↑), increasing H2O tolerance, and elevating oxygen mobility, thus promoting NOX reduction activity/consequences under SO2-excluding gases. V2O5-WO3 composite simulating a commercial catalyst could isolate mono-dentate SO32-/SO42- species and served as a control (V2O5-WO3-S) for comparison. Ni1-S was superior to V2O5-WO3-S in evading ammonium (bi-)sulfate (AS/ABS) poison accumulation and expediting AS/ABS pyrolysis efficiency, thereby improving AS/ABS resistance under SO2-including gases, while enhancing resistance against hydro-thermal aging.

19.
J Microbiol ; 61(7): 693-702, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37646922

RESUMO

Fibroblast growth factor 11 (FGF11) is a member of the intracellular FGF family, which shows different signal transmission compared with other FGF superfamily members. The molecular function of FGF11 is not clearly understood. In this study, we identified the inhibitory effect of FGF11 on hepatitis B virus (HBV) gene expression through transcriptional suppression. FGF11 decreased the mRNA and protein expression of HBV genes in liver cells. While the nuclear receptor FXRα1 increased HBV promoter transactivation, FGF11 decreased the FXRα-mediated gene induction of the HBV promoter by the FXRα agonist. Reduced endogenous levels of FXRα by siRNA and the dominant negative mutant protein (aa 1-187 without ligand binding domain) of FXRα expression indicated that HBV gene suppression by FGF11 is dependent on FXRα inhibition. In addition, FGF11 interacts with FXRα protein and reduces FXRα protein stability. These results indicate that FGF11 inhibits HBV replicative expression through the liver cell-specific transcription factor, FXRα, and suppresses HBV promoter activity. Our findings may contribute to the establishment of better regimens for the treatment of chronic HBV infections by including FGF11 to alter the bile acid mediated FXR pathway.


Assuntos
Ácidos e Sais Biliares , Vírus da Hepatite B , Vírus da Hepatite B/genética , Fatores de Crescimento de Fibroblastos/genética , Expressão Gênica , Hepatócitos
20.
Ecol Evol ; 13(7): e10252, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37404698

RESUMO

Similar to the global phenomenon, many plant species endemic to Korean limestone karst forests are at risk of extinction due to human intervention. Zabelia tyaihyonii is a familiar shrub, called "Hardy abelia" and "Fragrant abelia" growing in the karst forests of Korea, where it is one of the most threatened species. We investigated the genetic structure and demographic history of Z. tyaihyonii, which allow us to develop appropriate conservation and management strategies. The genetic structure was evaluated using a total of 187 samples from 14 populations, covering the entire distribution of Z. tyaihyonii in South Korea. We utilized 254 and 1753 SNP loci obtained via MIG-seq (Multiplexed ISSR Genotyping by sequencing) for structure and demographic analyses, respectively. The population demographic modeling was performed with site frequency spectrum. To gain further historical insights, we also employed ENM (Ecological Niche Modeling). We found two distinct clusters (CLI and CLII) of ancient origin (ca. 490 ka). Despite CLII experiencing a more severe bottleneck, both clusters showed similar levels of genetic diversity, indicating mutual historical gene flow. Their historical distribution range seems to have changed very little. We proposed a historical distribution scenario for Z. tyaihyonii, taking into account its intrinsic factors, and emphasized a more complex response to Quaternary climate change beyond simple allopatric speciation models. These findings provide valuable insights for conservation and management strategies for Z. tyaihyonii.

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