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2.
Chem Asian J ; 2022 Jan 18.
Artigo em Inglês | MEDLINE | ID: mdl-35043595

RESUMO

Phenanthridines are a class of useful heterocycles in the fields of drug development. In this work, a method via electrochemical decarboxylative cyclization of α-amino-oxy acids to access phenanthridine derivatives was developed. This reaction proceeded through iminyl radical formation cascade intramolecular cyclization from readily available materials under environmentally friendly conditions. A wide range of phenanthridine derivatives were obtained in moderate to high yields.

3.
BMC Genomics ; 23(1): 51, 2022 Jan 13.
Artigo em Inglês | MEDLINE | ID: mdl-35026984

RESUMO

BACKGROUND: High-grade serous ovarian carcinoma is highly heterogeneous, and although many studies have been conducted to identify high-grade serous ovarian carcinoma molecular subtypes that are sensitive to immunotherapy, no precise molecular subtype has been proposed to date. Immune cell infiltration and immune checkpoints are highly correlated with immunotherapy. Here, we investigated immune cell infiltration and immune checkpoint values for prognosis and precise immunotherapy for high-grade serous ovarian carcinoma based on molecular subtype classification. RESULTS: "High antigen-presenting cells infiltration molecular subtype of high-grade serous ovarian carcinoma" was identified in immune cell infiltration profiles. Each of the three immune cell infiltration clusters (A, B, and C) demonstrated distinct immune cell characterization, with immune cell infiltration cluster C exhibiting high antigen-presenting cell infiltration, improved prognosis, and higher sensitivity to immunotherapy. Programmed death-1/programmed death ligand 1 has a prognostic and predictive role that can help classify molecular subtypes. CONCLUSIONS: Our findings redefined a unique molecular subtype of high-grade serous ovarian carcinoma, suggesting that high-grade serous ovarian carcinoma patients with higher antigen-presenting cell infiltration and programmed death-1/programmed death ligand 1 expression can benefit from precise immunotherapy.


Assuntos
Cistadenocarcinoma Seroso , Neoplasias Ovarianas , Antígeno B7-H1/genética , Cistadenocarcinoma Seroso/genética , Feminino , Humanos , Linfócitos do Interstício Tumoral , Neoplasias Ovarianas/genética , Prognóstico , Receptor de Morte Celular Programada 1/genética
4.
Hortic Res ; 92022 Jan 05.
Artigo em Inglês | MEDLINE | ID: mdl-35031799

RESUMO

Caffeine is an important functional substance and is abundant in tea plant, but little is known about how its biosynthesis is regulated by transcription factors. In this study, the NAC-like transcription factor-encoding gene CsNAC7, which is involved in caffeine synthesis, was isolated from a Yinghong 9 cDNA library using a yeast one-hybrid assay; this gene comprises 1371 bp nucleotides and is predicted to encode 456 amino acids. The expression of CsNAC7 at the transcriptional level in tea shoots shared a similar pattern with that of the caffeine synthase gene yhNMT1 in the spring and summer, and its expressed protein was localized in the nucleus. Assays of gene activity showed that CsNAC7 has self-activation activity in yeast, that the active region is at the N-terminus, and that the transient expression of CsNAC7 could significantly promote the expression of yhNMT1 in tobacco leaves. In addition, overexpression or silencing of CsNAC7 significantly increased or decreased the expression of yhNMT1 and the accumulation of caffeine in transgenic tea calli, respectively. Our data suggest that the isolated transcription factor CsNAC7 positively regulates the caffeine synthase gene yhNMT1 and promotes caffeine accumulation in tea plant.

5.
Se Pu ; 40(1): 17-27, 2022 Jan.
Artigo em Chinês | MEDLINE | ID: mdl-34985212

RESUMO

As unique biomarkers, protein C-termini are involved in various biological processes such as protein trafficking, subcellular relocation, and signal transduction. Dysregulation of protein C-terminal status is critical during the development of various diseases, including cardiovascular, neurodegenerative, and metabolic diseases and cancer. Thus, global profiling of protein C-termini is of great value in providing mechanistic insight into biological or pathological processes, as well as for identifying potential new targets for therapeutic treatment. Polymer-based negative enrichment is a prominent C-terminomics strategy with advantages of universal applicability and parallel sample preparation. Compared with other methods of such a strategy, the profiling depth of the approaches based on enzymatic cleavage of Arg residues still needs to be improved. This greatly limits our understanding of the physiological functions and molecular mechanisms of C-termini. To add a more powerful tool for C-terminomics, Arg cleavage-based negative enrichment C-terminomics was optimized and evaluated. First, the sample preparation process was optimized. A one-pot enrichment platform based on a V-shaped filter was established, which reduced sample loss, avoided cross-contamination between reactions, and shortened sample preparation time. In addition, the protein-level acetylation conditions were investigated with the optimal labeling conditions as follows: triple coupling using 5 mmol/L Ac-NHS at pH 7.0 and 500 mmol/L ammonium for 15 min provided minimized acetylation rates (acetylation labeling efficiencies of Ser, Thr, and Tyr were lower than 4%, 2%, and 1%, respectively), along with the highest peptide-spectrum match number and satisfactory Lys labeling efficiency (up to 98%). These optimized conditions would not only minimize acetylation, but also facilitate the identification of C-terminal peptides. Second, it was speculated that the unexpected low identification rate was primarily caused by the interference of the large number of organic compounds accumulated during the peptide-level reactions, including reagents, organic buffering agents, and their complex side-reaction products. Therefore, the conditions for StageTip-based fractionation, including pH, the amount of Empore C18 beads, and the number of fractions, were optimized. As a result, by separating the sample enriched from 300 µg proteome into seven fractions, sample complexity was largely decreased and a total of 696 C-termini were identified in duplicates from strict data filtration, that is, percolator false discovery rate (FDR)<0.01, ion score≥20, and C-terminal amidation by ethanolamine. If only peptide FDR<0.01 was considered, the identified C-termini further increased to 933, which was among the largest C-terminome datasets obtained from the polymer-based strategy. Furthermore, compared with the results of a previous study, the optimized method would be a practical strategy for broader C-terminome coverage. Finally, to further broaden the coverage of the sub-C-terminome generated by Arg-specific cleavage, this study explored a new method in which ArgN-specific cleavage (cleavage at the N-terminal of Arg by LysargiNase) was combined with different N-terminal protections (dimethylation and acetylation). Among all the combinations, the additional use of the "LysargiNase+N-terminal acetylation" method increased 47% more identifications of unique C-termini on the basis of "trypsin+N-terminal demethylation" and the two covered 87% of the total C-termini. Therefore, the parallel use of the two methods would further expand the coverage of Arg-cleaved C-terminal peptides. With the analysis of the physicochemical properties of the peptides identified by the two methods, the reason why the C-terminal peptides identified by different strategies are complementary was explained. In conclusion, in this study, the optimized C-terminomics platform can deeply profile Arg cleavage-generated C-terminal peptides using a polymer-based approach. This method provides a powerful tool for the global characterization of protein C-termini.


Assuntos
Arginina , Proteína C , Peptídeos , Processamento de Proteína Pós-Traducional , Proteoma/metabolismo
6.
Org Biomol Chem ; 2022 Jan 07.
Artigo em Inglês | MEDLINE | ID: mdl-34994375

RESUMO

An efficient Pd-catalyzed direct C-H arylation of pyrrolo[1,2-a]quinoxalines with aryl iodides is described, providing a selective route toward a series of 1-arylated and 1,3-diarylated pyrrolo[1,2-a]quinoxalines in good yields. This method features a broad substrate scope, good functional group tolerance and gram-scale synthesis. Furthermore, the C3-thiocyanation of the arylated product is also achieved. We believe that these novel aryl-substituted pyrrolo [1,2-a]quinoxalines will have a variety of applications in organic synthesis and medicinal chemistry.

7.
J Med Chem ; 65(1): 838-856, 2022 Jan 13.
Artigo em Inglês | MEDLINE | ID: mdl-34967623

RESUMO

The leucine-rich repeat kinase 2 (LRRK2) protein has been genetically and functionally linked to Parkinson's disease (PD), a disabling and progressive neurodegenerative disorder whose current therapies are limited in scope and efficacy. In this report, we describe a rigorous hit-to-lead optimization campaign supported by structural enablement, which culminated in the discovery of brain-penetrant, candidate-quality molecules as represented by compounds 22 and 24. These compounds exhibit remarkable selectivity against the kinome and offer good oral bioavailability and low projected human doses. Furthermore, they showcase the implementation of stereochemical design elements that serve to enable a potency- and selectivity-enhancing increase in polarity and hydrogen bond donor (HBD) count while maintaining a central nervous system-friendly profile typified by low levels of transporter-mediated efflux and encouraging brain penetration in preclinical models.

8.
J Proteomics ; 253: 104457, 2022 Feb 20.
Artigo em Inglês | MEDLINE | ID: mdl-34933133

RESUMO

Salt stress is the major abiotic stress worldwide, adversely affecting crop yield and quality. Utilizing salt tolerance genes for the genetic breeding of crops is one of the most effective measures to withstand salinization. Sophora alopecuroides is a well-known saline-alkaline and drought-tolerant medicinal plant. Understanding the underlying molecular mechanism for Sophora alopecuroides salt tolerance is crucial to identifying the salt-tolerant genes. In this study, we performed tandem mass tag (TMT) based proteomic profiling of S. alopecuroides leaves under 150 mM NaCl induced salt stress condition for 3 d and 7 d. Data are available on ProteomeXchange (PXD027627). Furthermore, the proteomic findings were validated through parallel reaction monitoring (PRM). We observed that the expression levels of several transporter proteins related to the secondary messenger signaling pathway were altered under salt stress conditions induced for 3 d. However, the expression of the certain transferase, oxidoreductase, dehydrogenase, which are involved in the biosynthesis of flavonoids, alkaloids, phenylpropanoids, and amino acid metabolism, were mainly alerted after 7 d post-salt-stress induction. Several potential genes that might be involved in salt stress conditions were identified; however, it demands further investigation. Although salt stress affects the level of secondary metabolites, their correlation needs to be investigated further. SIGNIFICANCE: Salinization is the most severe abiotic adversity, which has had a significant negative effect on world food security over the time. Excavating salt-tolerant genes from halophytes or medicinal plants is one of the important measures to cope with salt stress. S. alopecuroides is a well-known medicinal plant with anti-tumor, anti-inflammatory, and antibacterial effects, anti-saline properties, and resistance to drought stress. Currently, only a few studies have explored the S. alopecuroides' gene function, and regulation and these studies are mostly related to the unpublished genome sequence information of S. alopecuroides. Recently, transcriptomics and metabolomics studies have been carried on the abiotic stress in S. alopecuroides roots. Multiple studies have shown that altered gene expression at the transcript level and altered metabolite levels do not correspond to the altered protein levels. In this study, TMT and PRM based proteomic analyses of S. alopecuroides leaves under salt stress condition induced using 150 mM NaCl for 3 d and 7 d was performed. These analyses elucidated the activation of different mechanisms in response to salt stress. A total of 434 differentially abundant proteins (DAPs) in salt stress conditions were identified and analyzed. For the first time, this study utilized proteomics technology to dig out plentiful underlying salt-tolerant genes from the medicinal plant, S. alopecuroides. We believe that this study will be of great significance to crop genetics and breeding.

9.
J Hazard Mater ; 422: 126849, 2022 01 15.
Artigo em Inglês | MEDLINE | ID: mdl-34416688

RESUMO

Dichlorvos (DDVP) is an insecticide with neurotoxicity that is widely used in agricultural production and life. However, the effects of acute DDVP poisoning on brain tissue remain underinvestigated. The purpose of this study was to evaluate the differences within 15 min-6 h in plasma biochemical indexes, brain histology and metabolites among three groups of commercial broilers orally administered different dosages of DDVP one time: (1) high-dose group (11.3 mg/kg), (2) low-dose group (2.48 mg/kg) and (3) control group (0 mg/kg). The results of biochemical indexes showed that acute DDVP poisoning could cause hyperglycemia and oxidative stress in poisoned broilers. Histological examination showed that DDVP could induce brain edema, abnormal expression of glial fibrillary acidic protein (GFAP) and neuronal mitochondrial damage in broilers. Whole-brain metabolism showed that DDVP could significantly change the secretion of neurotransmitters, energy metabolism, amino acid metabolism and nucleotide metabolism. Correlation analysis showed that metabolites such as hypoxanthine, acetylcarnitine and glucose 6-phosphate were significantly correlated with blood glucose, biomarkers of oxidative stress and brain injury pathology. The results of this study provide new insights into the molecular mechanism of brain tissue responses to acute DDVP exposure in broilers and deliver important information for clinical research on neurodegenerative diseases caused by acute DDVP poisoning.


Assuntos
Lesões Encefálicas , Venenos , Animais , Encéfalo , Galinhas , Diclorvós/toxicidade , Metabolômica
10.
Prostate ; 82(1): 26-40, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34591337

RESUMO

BACKGROUND: Androgen receptor (AR) is an essential transcriptional factor that contributes to the development and progression of prostate cancer (PCa). NCAPD3 is a component of the condensin II complex and plays a critical role in cell mitosis by regulating chromosome condensation; however, the relationship between NCAPD3 and AR remains unknown. METHODS: Transcriptome sequencing assay is carried out to analyze the expression of the NCAP family in clinic samples. Chromatin immunoprecipitation (ChIP) sequencing, ChIP assay, and dual-luciferase assay are used to identify the androgen-responsive element in NCAPD3 enhancer. Immunohistochemistry, quantitative reverse transcription-polymerase chain reaction, and western-blot assay are employed to check the expression of genes in PCa tissues and in PCa cells. Confocal immunofluorescence microscopy analysis is used for identifying the regulation of AR on NCAPD3-mediated chromosome condensation. Colony formation, cell cycle assay, wound healing assay, and transwell experiments are used to explore the regulation of AR on the functions of NCAPD3. In vivo experiment is employed to identify in vitro experimental results. RESULTS: NCAPD3 is an androgen/AR axis-targeted gene and is involved in AR-induced PCa cell proliferation, migration, and invasion in vitro and in vivo. Androgen treatment and AR overexpression increase the expression of NCAPD3 in PCa cell lines. The canonical exist in the enhancer region of NCAPD3. Androgen/AR axis regulates NCAPD3-invovled chromosome condensation during cell mitosis. CONCLUSIONS: Our report demonstrated that NCAPD3 is an androgen-responsive gene and upregulated by androgen/AR axis and involved in AR-promoted progression of PCa, suggesting a potential role of NCAPD3 in the PCa development.

11.
J Affect Disord ; 296: 126-129, 2022 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-34601299

RESUMO

AIMS: This study aimed to investigate the prevalence of anxiety, depression and PTSD symptoms, and associated risk factors among a large-scale sample of adolescents from China after the pandemic and lockdown. METHOD: A total of 57,948 high school students took part in an online survey from July 13 to 29, 2020. The mental health outcomes included anxiety, depression and PTSD symptoms. Risk factors included negative family relationships, COVID-19 related exposure, and a lack of social support. RESULTS: The prevalence of anxiety, depression and PTSD symptoms was 7.1%, 12.8%, and 16.9%, respectively. COVID-19 related exposure significantly linked to the mental health outcomes (all p < .001). The most important predictors for the mental health outcomes were family relationship and social support (all p < .001). CONCLUSION: The pandemic may have long-term adverse mental health consequences among adolescents. Adverse family relationships and lack of social support could be the major risk factors for the post-pandemic mental health outcomes of adolescents.


Assuntos
COVID-19 , Transtornos de Estresse Pós-Traumáticos , Adolescente , Ansiedade/epidemiologia , China/epidemiologia , Controle de Doenças Transmissíveis , Estudos Transversais , Depressão/epidemiologia , Humanos , Pandemias , SARS-CoV-2 , Instituições Acadêmicas , Transtornos de Estresse Pós-Traumáticos/epidemiologia , Estresse Psicológico , Estudantes
12.
Bioact Mater ; 10: 207-221, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34901540

RESUMO

The complex pathogenesis of osteoporosis includes excessive bone resorption, insufficient bone formation and inadequate vascularization, a combination which is difficult to completely address with conventional therapies. Engineered exosomes carrying curative molecules show promise as alternative osteoporosis therapies, but depend on specifically-functionalized vesicles and appropriate engineering strategies. Here, we developed an exosome delivery system based on exosomes secreted by mesenchymal stem cells (MSCs) derived from human induced pluripotent stem cells (iPSCs). The engineered exosomes BT-Exo-siShn3, took advantage of the intrinsic anti-osteoporosis function of these special MSC-derived exosomes and collaborated with the loaded siRNA of the Shn3 gene to enhance the therapeutic effects. Modification of a bone-targeting peptide endowed the BT-Exo-siShn3 an ability to deliver siRNA to osteoblasts specifically. Silencing of the osteoblastic Shn3 gene enhanced osteogenic differentiation, decreased autologous RANKL expression and thereby inhibited osteoclast formation. Furthermore, Shn3 gene silencing increased production of SLIT3 and consequently facilitated vascularization, especially formation of type H vessels. Our study demonstrated that BT-Exo-siShn3 could serve as a promising therapy to kill three birds with one stone and implement comprehensive anti-osteoporosis effects.

13.
Drug Deliv ; 29(1): 161-173, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34967262

RESUMO

A major impediment in the development of nanoplatform-based ovarian cancer therapy is endo/lysosome entrapment. To solve this dilemma, a hollow mesoporous organosilica-based nanoplatform (HMON@CuS/Gd2O3) with a mild-temperature photothermal therapeutic effect and multimodal imaging abilities was successfully synthesized. HMON@CuS/Gd2O3 exhibited an appropriate size distribution, L-glutathione (GSH)-responsive degradable properties, and high singlet oxygen generation characteristics. In this study, the nanoplatform specifically entered SKOV-3 cells and was entrapped in endo/lysosomes. With a mild near infrared (NIR) power density (.5 W/cm2), the HMON@CuS/Gd2O3 nanoplatform caused lysosome vacuolation, disrupted the lysosomal membrane integrity, and exerted antitumour effects in ovarian cancer. Additionally, our in vivo experiments indicated that HMON@CuS/Gd2O3 has enhanced T1 MR imaging, fluorescence (FL) imaging (wrapping fluorescent agent), and infrared thermal (IRT) imaging capacities. Using FL/MRI/IRT imaging, HMON@CuS/Gd2O3 selectively caused mild phototherapy in the cancer region, efficiently inhibiting the growth of ovarian cancer without systemic toxicity in vivo. Taken together, the results showed that these well-synthesized nanoplatforms are likely promising anticancer agents to treat ovarian cancer and show great potential for biomedical applications.

14.
J Hazard Mater ; 423(Pt B): 127132, 2022 02 05.
Artigo em Inglês | MEDLINE | ID: mdl-34537652

RESUMO

The abuse of antibiotics has triggered the rise of drug-resistance bacteria, which has seriously threatened public health globally. As a result, carrying out efficient and accurate antibiotic and bacteria identification are quite significant but challenge. Herein, an unprecedented Cd-MOF-based sensor, [CdL]n [1, H2L = 4-(2-methyl-1H-benzo[d]imidazol-1-yl) isophthalic acid] with multiple fluorescence response behaviours towards antibiotics and bacteria was developed. Single-crystal X-ray diffraction revealed that 1 is a mesomeric 2D bilayer, which is comprised of two opposite chiral mono-layers, each assembled by left-handed or right-handed helixes. More interestingly, 1 represented multiplex detection capability towards antibiotics and bacteria through two detection behaviors: toward nitro-antibiotics and chlortetracycline (CTC) via fluorescent quenching, while toward Staphylococcus albus (S. albus) via fluorescent enhancement. Remarkably, 1 showed a low limit of detection (LOD, 47 CFU/mL) accompanied with specificity in the detection of S. albus compared to other bacteria, such as Staphylococcus aureus, Acinetobacter baumannii, Klebsiella pneumonia, Pseudomonas aeruginosa and Escherichia coli. In addition, the LOD could reach to ppm level for nitro-antibiotics and CTC. Moreover, the practical application of 1 was further reinforced through the detection of nitro-antibiotics and CTC, as well as S. albus in fetal calf serum and river water.


Assuntos
Antibacterianos , Cádmio , Antibacterianos/uso terapêutico , Testes de Sensibilidade Microbiana , Staphylococcus aureus , Staphylococcus epidermidis
15.
Mol Med Rep ; 25(1)2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-34779503

RESUMO

Efferocytosis, the phagocytosis of apoptotic cells performed by both specialized phagocytes (such as macrophages) and non­specialized phagocytes (such as epithelial cells), is involved in tissue repair and homeostasis. Effective efferocytosis prevents secondary necrosis, terminates inflammatory responses, promotes self­tolerance and activates pro­resolving pathways to maintain homeostasis. When efferocytosis is impaired, apoptotic cells that could not be cleared in time aggregate, resulting in the necrosis of apoptotic cells and release of pro­inflammatory factors. In addition, defective efferocytosis inhibits the intracellular cholesterol reverse transportation pathways, which may lead to atherosclerosis, lung damage, non­alcoholic fatty liver disease and neurodegenerative diseases. The uncleared apoptotic cells can also release autoantigens, which can cause autoimmune diseases. Cancer cells escape from phagocytosis via efferocytosis. Therefore, new treatment strategies for diseases related to defective efferocytosis are proposed. This review illustrated the mechanisms of efferocytosis in multisystem diseases and organismal homeostasis and the pathophysiological consequences of defective efferocytosis. Several drugs and treatments available to enhance efferocytosis are also mentioned in the review, serving as new evidence for clinical application.

16.
Int J Cancer ; 150(3): 521-531, 2022 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-34655477

RESUMO

Increasing evidence has elucidated the clinicopathological significance of tumor microenvironment (TME) cells. However, TME differences associated with human papillomavirus (HPV) infection in oropharyngeal squamous cell carcinoma (OPSCC) have not been well characterized. In our study, we comprehensively determined the TME infiltration patterns in 315 OPSCC patients, and systematically correlated the TME phenotypes with genomic characteristics and clinical features of OPSCCs. In this way, we observed the enrichment of high endothelial cells and adaptive immune cells in HPV-positive (HPV+) OPSCCs, in contrast to the enrichment of fibroblasts and capillary endothelial cells in HPV- negative (HPV-) OPSCCs. By focusing on immune checkpoint genes, we constructed a coexpression network using genes that were differentially expressed between HPV+ and HPV- OPSCCs. Functional analysis of the network indicated that HPV+ OPSCCs had elevated immune activities by promoting adaptive immune response and suppressing activities related to extracellular matrix organization. Subsequently, clinical analysis showed that identified TME-relevant genes were closely associated with the prognosis and therapy response in OPSCC. Importantly, results from the TME analysis were further validated using an independent OPSCC cohort.

17.
Neural Regen Res ; 17(7): 1576-1581, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34916443

RESUMO

Although some short-term follow-up studies have found that individuals recovering from coronavirus disease 2019 (COVID-19) exhibit anxiety, depression, and altered brain microstructure, their long-term physical problems, neuropsychiatric sequelae, and changes in brain function remain unknown. This observational cohort study collected 1-year follow-up data from 22 patients who had been hospitalized with COVID-19 (8 males and 11 females, aged 54.2 ± 8.7 years). Fatigue and myalgia were persistent symptoms at the 1-year follow-up. The resting state functional magnetic resonance imaging revealed that compared with 29 healthy controls (7 males and 18 females, aged 50.5 ± 11.6 years), COVID-19 survivors had greatly increased amplitude of low-frequency fluctuation (ALFF) values in the left precentral gyrus, middle frontal gyrus, inferior frontal gyrus of operculum, inferior frontal gyrus of triangle, insula, hippocampus, parahippocampal gyrus, fusiform gyrus, postcentral gyrus, inferior parietal angular gyrus, supramarginal gyrus, angular gyrus, thalamus, middle temporal gyrus, inferior temporal gyrus, caudate, and putamen. ALFF values in the left caudate of the COVID-19 survivors were positively correlated with their Athens Insomnia Scale scores, and those in the left precentral gyrus were positively correlated with neutrophil count during hospitalization. The long-term follow-up results suggest that the ALFF in brain regions related to mood and sleep regulation were altered in COVID-19 survivors. This can help us understand the neurobiological mechanisms of COVID-19-related neuropsychiatric sequelae. This study was approved by the Ethics Committee of the Second Xiangya Hospital of Central South University (approval No. 2020S004) on March 19, 2020.

18.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 39(1): 85-88, 2022 Jan 10.
Artigo em Chinês | MEDLINE | ID: mdl-34964975

RESUMO

OBJECTIVE: To determine the origin of a mosaicism small supernumerary marker chromosome (sSMC) by cytogenetic and molecular analysis. METHODS: Karyotype analysis, fluorescence in situ hybridization (FISH) and SNP-array were carried out. RESULTS: The karyotype of the patient was mos47,XX,+mar[45]/48,XX,+2mar[3]/46,XX[52]; the SNP-array result was arr[hg19]15q11.1q11.2 (20 161 372-24 314 675)×3, and the repeat fragment was about 4.15 Mb. FISH showed that approximately 50% of the cells have contained a sSMC with double D15Z1 probe site segments derived from abnormal idic(15). This sSMC did not contain SNRPN and PML probe fragments of Prader-Willi syndrome/Angelman syndrome. CONCLUSION: When the patient's karyotype and phenotype are inconsistent, cytogenetic and molecular biology technologies should be combined to clarify the karyotype and gene location, so as to provide more accurate genetic consultation for the follow-up treatments.


Assuntos
Mosaicismo , Transtornos Cromossômicos , Cromossomos Humanos Par 15 , Hibridização Genômica Comparativa , Humanos , Hibridização in Situ Fluorescente , Cariótipo
19.
Mol Ecol Resour ; 2021 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-34854556

RESUMO

Portunus trituberculatus (Crustacea: Decapoda: Brachyura), commonly known as the swimming crab, is of major ecological importance, as well as being important to the fisheries industry. P. trituberculatus is also an important farmed species in China due to its rapid growth rate and high economic value. Here, we report the genome sequence of the swimming crab, which was assembled at the chromosome scale, covering ~1.2 Gb, with 79.99% of the scaffold sequences assembled into 53 chromosomes. The contig and scaffold N50 values were 108.7 kb and 15.6 Mb, respectively, with 19,981 protein-coding genes. Based on comparative genomic analyses of crabs and shrimps, the C2H2 zinc finger protein family was found to be the only gene family expanded in crab genomes, suggesting it was closely related to the evolution of crabs. The combination of transcriptome and bulked segregant analysis provided insights into the genetic basis of salinity adaptation and rapid growth in P. trituberculatus. In addition, the specific region of the Y chromosome was located for the first time in the genome of P. trituberculatus, and three genes were preliminarily identified as candidate genes for sex determination in this region. Decoding the swimming crab genome not only provides a valuable genomic resource for further biological and evolutionary studies, but is also useful for molecular breeding of swimming crabs.

20.
Infect Drug Resist ; 14: 5035-5040, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34876822

RESUMO

The patient had several close contacts with friends from Wuhan, the epicenter of the epidemic. His mother and father had close contact with him. His father was later diagnosed with COVID-19 infection after a positive reverse transcription PCR test for SARS-CoV-2 RNA. The patient and his mother were diagnosed as suspected cases of COVID-19 based on a history of exposure, clinical manifestation, and imaging examination. However, the patient was tested more than three times with the reverse transcription PCR test for SARS-CoV-2 RNA, and the results were negative each time. COVID-19 should be suspected, regardless of SARS-CoV-2 test negativity, for recent close contact with a confirmed case and respiratory symptoms.

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