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1.
Int J Behav Med ; 28(2): 250-258, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33730347

RESUMO

BACKGROUND: Test anxiety may be better thought of as a biopsychosocial process affecting academic performance during the days leading up to an exam, rather than a static appraisal of attitudes related to test taking. This was a passive observational study following students 2 days before a midterm exam and was designed to test the Sleep Anxiety Performance Process (SAPP) model in the context of a psychology statistics exam. METHODS: Undergraduates (N = 167) enrolled in a statistics class, January-November 2015. Participants completed an electronic battery of measures and Sleep Mood Study Diaries (SMS) during the mornings, 2 days before a statistics exam. Instructors confirmed exam scores. RESULTS: A path model showed a reciprocal bi-directional relationship between Sleep Quality and restfulness (Q&R) and test anxiety 2 days before a scheduled exam, with test anxiety measured in the morning, before the exam predicting exam performance. Prior exam performance, being a non-native English speaker (ESL), and class performance motivation also predicted exam performance. CONCLUSIONS: These data support the SAPP model's premise that that sleep and anxiety feed one another, as a reciprocal process, that collectively impairs academic performance, with direct effects on academic performance, but with implications for overall student health.


Assuntos
Distúrbios do Início e da Manutenção do Sono , Ansiedade , Humanos , Sono , Estudantes
3.
PLoS One ; 16(3): e0247806, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33770091

RESUMO

Upon discovery of the first archaeal species in the 1970s, life has been subdivided into three domains: Eukarya, Archaea, and Bacteria. However, the organization of the three-domain tree of life has been challenged following the discovery of archaeal lineages such as the TACK and Asgard superphyla. The Asgard Superphylum has emerged as the closest archaeal ancestor to eukaryotes, potentially improving our understanding of the evolution of life forms. We characterized the transportomes and their substrates within four metagenome-assembled genomes (MAGs), that is, Odin-, Thor-, Heimdall- and Loki-archaeota as well as the fully sequenced genome of Candidatus Prometheoarchaeum syntrophicum strain MK-D1 that belongs to the Loki phylum. Using the Transporter Classification Database (TCDB) as reference, candidate transporters encoded within the proteomes were identified based on sequence similarity, alignment coverage, compatibility of hydropathy profiles, TMS topologies and shared domains. Identified transport systems were compared within the Asgard superphylum as well as within dissimilar eukaryotic, archaeal and bacterial organisms. From these analyses, we infer that Asgard organisms rely mostly on the transport of substrates driven by the proton motive force (pmf), the proton electrochemical gradient which then can be used for ATP production and to drive the activities of secondary carriers. The results indicate that Asgard archaea depend heavily on the uptake of organic molecules such as lipid precursors, amino acids and their derivatives, and sugars and their derivatives. Overall, the majority of the transporters identified are more similar to prokaryotic transporters than eukaryotic systems although several instances of the reverse were documented. Taken together, the results support the previous suggestions that the Asgard superphylum includes organisms that are largely mixotrophic and anaerobic but more clearly define their metabolic potential while providing evidence regarding their relatedness to eukaryotes.

4.
Chaos ; 31(1): 013107, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33754749

RESUMO

Identification of complex networks from limited and noise contaminated data is an important yet challenging task, which has attracted researchers from different disciplines recently. In this paper, the underlying feature of a complex network identification problem was analyzed and translated into a sparse linear programming problem. Then, a general framework based on the Bayesian model with independent Laplace prior was proposed to guarantee the sparseness and accuracy of identification results after analyzing influences of different prior distributions. At the same time, a three-stage hierarchical method was designed to resolve the puzzle that the Laplace distribution is not conjugated to the normal distribution. Last, the variational Bayesian was introduced to improve the efficiency of the network reconstruction task. The high accuracy and robust properties of the proposed method were verified by conducting both general synthetic network and real network identification tasks based on the evolutionary game dynamic. Compared with other five classical algorithms, the numerical experiments indicate that the proposed model can outperform these methods in both accuracy and robustness.

5.
Sci Total Environ ; 775: 145830, 2021 Feb 14.
Artigo em Inglês | MEDLINE | ID: mdl-33621885

RESUMO

The levels and accumulation characteristics of polychlorinated dibenzo-p-dioxins and dibenzofurans (PCDD/Fs) and polychlorinated biphenyls (PCBs) were investigated in nine pools of representative plant-origin foodstuffs randomly collected from markets located in five regions of the Chinese mainland during 2018-2019. The collected foodstuffs consisted of cereals, beans, potatoes, leafy vegetables, root and stem vegetables, melon vegetables, legume vegetables, edible fungi, and mixed vegetable oil. In the fresh plant food pools, the concentrations of toxic equivalency (WHO-TEQ) were in the ranges of 0.9-14.5 pg/kg in upperbound (UB) scenario and 0.002-7.3 pg/kg in lowerbound (LB) scenario on a fresh weight basis; and TriCDFs and TeCBs were the predominant PCDD/F and PCB homologues, respectively. In the mixed vegetable oil, the WHO-TEQ concentrations were 129.4 pg/kg and 103.6 pg/kg on a lipid weight basis in UB and LB scenarios, respectively; and high-chlorinated PCDD/F and PCB homologues were much more abundant. The estimated plant food-borne dietary intakes of WHO-TEQ by a standard adult in the five surveyed regions were in the ranges of 3.39-4.20 and 1.57-2.13 pg WHO-TEQ/kg body weight/month in UB and LB scenarios, respectively. Among all surveyed regions, consumption of cereals and vegetable oil made up the primary contributions to the estimated dietary intakes of WHO-TEQ. TriCDFs accounted for 41.1-83.9% of the PCDD/Fs dietary intakes via consumption of plant foods, and TeCBs made up 61.2-73.0% of the PCBs dietary intakes via consumption of plant foods, suggesting that the potential toxic effects of TriCDFs and TeCBs on human health should be concerned.

6.
J Vis Exp ; (168)2021 02 02.
Artigo em Inglês | MEDLINE | ID: mdl-33616117

RESUMO

This protocol describes the allotransplantation of tumors in Drosophila melanogaster using an auto-nanoliter injection apparatus. With the use of an autoinjector apparatus, trained operators can achieve more efficient and consistent transplantation results compared to those obtained using a manual injector. Here, we cover topics in a chronological fashion: from the crossing of Drosophila lines, to the induction and dissection of the primary tumor, transplantation of the primary tumor into a new adult host and continued generational transplantation of the tumor for extended studies. As a demonstration, here we use Notch intracellular domain (NICD) overexpression induced salivary gland imaginal ring tumors for generational transplantation. These tumors can first be reliably induced in a transition-zone microenvironment within larval salivary gland imaginal rings, then allografted and cultured in vivo to study continued tumor growth, evolution, and metastasis. This allotransplantation method can be useful in potential drug screening programs, as well as for studying tumor-host interactions.


Assuntos
Aloenxertos/transplante , Drosophila melanogaster/fisiologia , Nanotecnologia/instrumentação , Transplante de Neoplasias , Neoplasias/patologia , Abdome/patologia , Animais , Dissecação , Injeções , Glândulas Salivares/patologia , Microambiente Tumoral
7.
Nat Commun ; 12(1): 690, 2021 01 29.
Artigo em Inglês | MEDLINE | ID: mdl-33514739

RESUMO

Lamins and transmembrane proteins within the nuclear envelope regulate nuclear structure and chromatin organization. Nuclear envelope transmembrane protein 39 (Net39) is a muscle nuclear envelope protein whose functions in vivo have not been explored. We show that mice lacking Net39 succumb to severe myopathy and juvenile lethality, with concomitant disruption in nuclear integrity, chromatin accessibility, gene expression, and metabolism. These abnormalities resemble those of Emery-Dreifuss muscular dystrophy (EDMD), caused by mutations in A-type lamins (LMNA) and other genes, like Emerin (EMD). We observe that Net39 is downregulated in EDMD patients, implicating Net39 in the pathogenesis of this disorder. Our findings highlight the role of Net39 at the nuclear envelope in maintaining muscle chromatin organization, gene expression and function, and its potential contribution to the molecular etiology of EDMD.


Assuntos
Proteínas de Membrana/deficiência , Músculo Esquelético/patologia , Distrofia Muscular de Emery-Dreifuss/genética , Membrana Nuclear/patologia , Proteínas Nucleares/metabolismo , Fosfatidato Fosfatase/metabolismo , Animais , Linhagem Celular , Cromatina/metabolismo , Sequenciamento de Cromatina por Imunoprecipitação , Modelos Animais de Doenças , Regulação para Baixo , Feminino , Humanos , Lamina Tipo A/genética , Masculino , Proteínas de Membrana/genética , Camundongos , Camundongos Knockout , Músculo Esquelético/citologia , Distrofia Muscular de Emery-Dreifuss/patologia , Proteínas Nucleares/genética , Fosfatidato Fosfatase/genética , RNA-Seq , Estudos Retrospectivos
8.
Sci Rep ; 11(1): 2675, 2021 Jan 29.
Artigo em Inglês | MEDLINE | ID: mdl-33514804

RESUMO

Prunus mume (also known as Mei) is an important ornamental plant that is popular with Asians. The weeping trait in P. mume has attracted the attention of researchers for its high ornamental value. However, the formation of the weeping trait of woody plants is a complex process and the molecular basis of weeping stem development is unclear. Here, the morphological and histochemical characteristics and transcriptome profiles of upright and weeping stems from P. mume were studied. Significant alterations in the histochemical characteristics of upright and weeping stems were observed, and the absence of phloem fibres and less xylem in weeping stems might be responsible for their inability to resist gravity and to grow downward. Transcriptome analysis showed that differentially expressed genes (DEGs) were enriched in phenylpropanoid biosynthesis and phytohormone signal transduction pathways. To investigate the differential responses to hormones, upright and weeping stems were treated with IAA (auxin) and GA3 (gibberellin A3), respectively, and the results revealed that weeping stems had a weaker IAA response ability and reduced upward bending angles than upright stems. On the contrary, weeping stems had increased upward bending angles than upright stems with GA3 treatment. Compared to upright stems, interestingly, DEGs associated with diterpenoid biosynthesis and phenylpropanoid biosynthesis were significantly enriched after being treated with IAA, and expression levels of genes associated with phenylpropanoid biosynthesis, ABC transporters, glycosylphosphatidylinositol (GPI)-anchor biosynthesis were altered after being treated with GA3 in weeping stems. Those results reveal that multiple molecular mechanisms regulate the formation of weeping trait in P. mume, which lays a theoretical foundation for the cultivation of new varieties.

9.
Stem Cell Res Ther ; 12(1): 30, 2021 Jan 07.
Artigo em Inglês | MEDLINE | ID: mdl-33413675

RESUMO

BACKGROUND: Ulcerative colitis (UC) is a chronic and recurrent disease without satisfactory treatment strategies. Dental pulp stem cell (DPSC) transplantation has been proposed as a potential therapy for UC. This study aimed to investigate the therapeutic effects of the rat hepatocyte growth factor (HGF) gene transduced into DPSCs for UC. METHODS: The therapeutic effects of HGF-DPSCs transplanted intravenously into a rat model of UC induced by 5% dextran sulphate sodium (DSS) were compared with the other treatment groups (LV-HGF group, DPSCs group and GFP-DPSCs group). Immunofluorescence and immunohistochemistry were used to observe the localization and proliferation of HGF-DPSCs at the site of colon injury. The expression levels of inflammatory factors were detected by real-time quantitative PCR (RT-PCR) and western blotting. The oxidative stress markers were detected by ELISA. DAI scores and body weight changes were used to macroscopically evaluate the treatment of rats in each group. RESULTS: Immunofluorescence and immunohistochemistry assays showed that HGF-DPSCs homed to colon injury sites and colocalized with intestinal stem cell (ISC) markers (Bmi1, Musashi1 and Sox9) and significantly promoted protein expression (Bmi1, Musashi1, Sox9 and PCNA). Anti-inflammatory cytokine (TGF-ß and IL-10) expression was the highest in the HGF-DPSCs group compared with the other treatment groups, while the expression of pro-inflammatory cytokines (TNF-α and INF-γ) was the lowest. Additionally, the oxidative stress response results showed that malondialdehyde (MDA) and myeloperoxidase (MPO) expression decreased while superoxide dismutase (SOD) expression increased, especially in the HGF-DPSCs group. The DAI scores showed a downward trend with time in the five treatment groups, whereas body weight increased, and the changes were most prominent in the HGF-DPSCs group. CONCLUSIONS: The study indicated that HGF-DPSCs can alleviate injuries to the intestinal mucosa by transdifferentiating into ISC-like cells, promoting ISC-like cell proliferation, suppressing inflammatory responses and reducing oxidative stress damage, which provides new ideas for the clinical treatment of UC.

10.
bioRxiv ; 2020 Dec 04.
Artigo em Inglês | MEDLINE | ID: mdl-33300001

RESUMO

Coronavirus disease 2019 (COVID-19) includes the cardiovascular complications in addition to respiratory disease. SARS-CoV-2 infection impairs endothelial function and induces vascular inflammation, leading to endotheliitis. SARS-CoV-2 infection relies on the binding of Spike glycoprotein (S protein) to angiotensin converting enzyme 2 (ACE2) in the host cells. We show here that S protein alone can damage vascular endothelial cells (ECs) in vitro and in vivo, manifested by impaired mitochondrial function, decreased ACE2 expression and eNOS activity, and increased glycolysis. The underlying mechanism involves S protein downregulation of AMPK and upregulation of MDM2, causing ACE2 destabilization. Thus, the S protein-exerted vascular endothelial damage via ACE2 downregulation overrides the decreased virus infectivity.

11.
J Agric Food Chem ; 2020 Dec 04.
Artigo em Inglês | MEDLINE | ID: mdl-33274636

RESUMO

Broflanilide, a novel insecticide, is classified as a negative allosteric modulator (NAM) of insect γ-aminobutyric acid (GABA) receptors (GABARs) as desmethyl-broflanilide (DMBF) allosterically inhibits the GABA-induced responses. The G277M mutation of the Drosophila melanogaster GABAR subunit has been reported to abolish the inhibitory activity of DMBF. The binding mode of DMBF in insect GABARs needs to be clarified to understand the underlying mechanism of this mutation and to develop novel, efficient NAMs of insect GABARs. Here, we found that a hydrogen bond formed between DMBF and G277 of the D. melanogaster GABAR model might be the key interaction for the antagonism of DMBF by in silico simulations. The volume increase induced by the G277M mutation blocks the entrance of the binding pocket, making it difficult for DMBF to enter the binding pocket and thereby decreasing its activity. The following virtual screening and bioassay results identified a novel NAM candidate of insect GABARs. Overall, we reported a possible binding mode of DMBF in insect GABARs and proposed the insensitivity mechanism of the G277M mutant GABAR to DMBF using molecular simulations. The identified NAM candidates might provide more alternatives or potentials for the design of GABAR-targeting insecticides.

12.
Br J Ophthalmol ; 2020 Nov 26.
Artigo em Inglês | MEDLINE | ID: mdl-33243828

RESUMO

PURPOSE: To estimate the disease burden due to intraocular foreign bodies (IOFBs) and evaluate contributions of various risk factors to IOFB-associated disability-adjusted life-years (DALYs). METHODS: Global, regional and country-level number, rate and age-standardised rate of DALYs due to IOFBs were acquired from the Global Burden of Disease Study 2017 database. The Human Development Index (HDI) and other region and country-level data were obtained from open databases. Time trends for number, rate and age-standardised rate of DALYs due to IOFBs were calculated. Regression analysis was used to evaluate associations between age-standardised rate of DALYs and potential predictors. RESULTS: Global DALYs due to IOFBs rose by 43.7% between 1990 (139 (95% CI 70.8 to 233) thousand) and 2017 (202 (95% CI 105 to 335) thousand). The DALY rate remained stable while the age-standardised rate decreased during this period. Higher disease burden due to IOFBs was associated with higher glaucoma prevalence (ß=0.006, 95% CI 0.003 to 0.09, p<0.001), lower refractive error prevalence (ß=-0.0005, 95% CI -0.0007 to -0.0002, p<0.001), and lower income (ß=-0.020, 95% CI -0.035 to -0.006, p=0.007). CONCLUSION: Predictors of a greater burden of IOFB disability generally point to lower socioeconomic level. The association with glaucoma may reflect a complication of IOFB, increasing risk of vision loss and disability.

13.
Nucleic Acids Res ; 2020 Nov 10.
Artigo em Inglês | MEDLINE | ID: mdl-33170213

RESUMO

The Transporter Classification Database (TCDB; tcdb.org) is a freely accessible reference resource, which provides functional, structural, mechanistic, medical and biotechnological information about transporters from organisms of all types. TCDB is the only transport protein classification database adopted by the International Union of Biochemistry and Molecular Biology (IUBMB) and now (October 1, 2020) consists of 20 653 proteins classified in 15 528 non-redundant transport systems with 1567 tabulated 3D structures, 18 336 reference citations describing 1536 transporter families, of which 26% are members of 82 recognized superfamilies. Overall, this is an increase of over 50% since the last published update of the database in 2016. This comprehensive update of the database contents and features include (i) adoption of a chemical ontology for substrates of transporters, (ii) inclusion of new superfamilies, (iii) a domain-based characterization of transporter families for the identification of new members as well as functional and evolutionary relationships between families, (iv) development of novel software to facilitate curation and use of the database, (v) addition of new subclasses of transport systems including 11 novel types of channels and 3 types of group translocators and (vi) the inclusion of many man-made (artificial) transmembrane pores/channels and carriers.

14.
Sensors (Basel) ; 20(21)2020 Oct 30.
Artigo em Inglês | MEDLINE | ID: mdl-33142985

RESUMO

The 3 × 3 demodulation algorithm has been widely used in retrieving the phase information in the optical fiber sensing system, while the asymmetry of the 3 × 3 coupler can introduce some distortions. In this situation, the parameters of the 3 × 3 coupler can be calibrated by the ellipse fitting method to remove the distortions. Conducting a frequency modulation on the laser, together with an unbalanced Michelson interferometer, makes the ellipse fitting method implemented, which is more appropriate for all-optical sensing. Unexpectedly, the auxiliary amplitude modulation of the laser induced by the frequency modulation is inevitable, leading to the deterioration of the calibration. In this paper, the influence of the auxiliary amplitude modulation on the calibration of the asymmetric parameters is analyzed theoretically and verified experimentally, on the basis of which a convenient but highly efficient method for acquiring the output of the laser and removing related items from the interferometric signals is put forward. The feasibility and robustness of the proposed solution is tested experimentally, and the results show that the mean square errors of the fittings and the variation coefficients of the calibrated parameter sequences are at the scale of 10-5 and 10-4, respectively, indicating that the method performs very well.

16.
Sensors (Basel) ; 20(19)2020 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-33019593

RESUMO

In this paper, we propose a data fusion algorithm based on the weighted histogram statistics (DF-WHS) to improve the performance of direction-of-arrival (DOA) estimation for the vector hydrophone vertical array (VHVA). The processing frequency band is firstly divided into multiple sub-bands, and the high-resolution multiple signal classification (MUSIC) algorithm is applied to estimate the azimuth of each sub-band for each vector hydrophone. Then, the weighted least square (WLS) data fusion technique is used to fuse the sub-band estimation results of multiple sensors. Finally, the weighted histogram statistics method is employed to obtain the synthesis results in the frequency domain. We carried out a simulation and sea trial of the 16-element VHVA to evaluate the performance of the proposed algorithm. Compared to several traditional processing algorithms, the beam width of the proposed approach is significantly narrower, the side lobes are considerably lower, and the mean square error (MSE) is effectively smaller. In addition, the DF-WHS method is more suitable to accurately estimate the target azimuth with a low signal-to-noise ratio (SNR) because the noise sub-band is suppressed in the weighted histogram statistics step. The DF-WHS method in this article provides a new approach to improve the performance of deep-sea target detection for the VHVA.

17.
Sci Rep ; 10(1): 17400, 2020 10 15.
Artigo em Inglês | MEDLINE | ID: mdl-33060809

RESUMO

Smoking has been identified as a risk factor for atopic dermatitis and hand eczema, but less is known about the association of exposure to second-hand smoke (SHS) with hand eczema. The study aimed to investigate the association of SHS exposure with hand eczema and atopic dermatitis in a group of adolescents. We conducted a cross-sectional study among first-year college students. SHS exposure was measured by a self-administered questionnaire. Skin diseases were diagnosed by dermatologists in the field survey. Mixed models were used to estimate the associations. A total of 20,129 participants that underwent skin examination and a questionnaire survey were included in the analyses. The prevalence rates of atopic dermatitis and hand eczema were 3.86% and 3.35%, respectively. Crude and adjusted estimates consistently showed that exposure to SHS was significantly associated with atopic dermatitis and hand eczema in a dose-response manner. Attention deficit/hyperactivity disorder mediated minimal or no effect of SHS on hand eczema and atopic dermatitis. Subgroup analysis by type of hand eczema, and sensitivity analysis by excluding data with center effect showed consistent results. Exposure to SHS is an independent but modifiable risk factor for hand eczema and atopic dermatitis in adolescents.

18.
Sci Total Environ ; 755(Pt 2): 142419, 2020 Sep 21.
Artigo em Inglês | MEDLINE | ID: mdl-33049525

RESUMO

Vegetation is a crucial component of terrestrial ecosystems, and its changes are driven mainly by a combination of climate change and human activities. This paper aims to reveal the relationship between vegetation and climate change by using the normalized difference vegetation index (NDVI) and standardized precipitation evapotranspiration index (SPEI), and to find the cause of vegetation change by performing residual analysis on the Loess Plateau during the period from 2000 to 2016. The results showed that the NDVI on the Loess Plateau exhibited an increase of 0.086 per decade, and an increasing trend was observed across 94.86% of the total area. The relationship between the NDVI and SPEI was mainly positive, and the correlation increased as the time scale of the SPEI lengthened, indicating that long-term water availability was the major climate factor affecting vegetation growth. Residual analysis indicated that climate change was responsible for 45.78% of NDVI variation, while human activities were responsible for 54.22%. In areas with degraded vegetation, the relative roles of climate change and human activities were 28.11% and 72.89%, respectively. In addition, the relative role of climate change increased with an increase in the time scales, implying that the long-term NDVI trend was more sensitive to climate change then the short-term trend. The results of this study are expected to enhance our understanding of vegetation changes under climate change and human activities and provide a scientific basis for future ecological restoration in arid regions.

19.
J Neurol ; 2020 Oct 29.
Artigo em Inglês | MEDLINE | ID: mdl-33123777

RESUMO

BACKGROUND AND PURPOSE: There is an ongoing debate about whether a direct aspiration first-pass technique (ADAPT) or stent retriever should be used as the first-pass mechanical thrombectomy device for patients with acute ischemic stroke (AIS). This meta-analysis aimed to compare the safety and efficacy of ADAPT versus stent retriever in patients with AIS. METHODS: Structured searches on the PubMed, Embase, and Cochrane Library databases were conducted through July 2020. The primary outcomes of this study were: successful and complete recanalization; excellent and favorable outcomes; all-cause mortality at 90 days; and symptomatic intracerebral hemorrhage (sICH). The secondary outcomes of this study were: successful recanalization by primary chosen device; additional therapy; occurrence of emboli in a new territory; hemorrhagic complication; hemorrhagic infarction; parenchymatous hematoma; and subarachnoid hemorrhage. The odds ratios (ORs) with 95% confidence intervals (CIs) of the primary and secondary outcomes were calculated using a random-effects model. I2 statistics were used to assess the heterogeneity for each outcome among the included studies. RESULTS: Finally, 20 studies with a total of 6311 patients were included in our meta-analysis. There were no significant differences between the ADAPT group and the stent retriever group of the primary and secondary outcomes except additional therapy. Our pooled results indicated that patients in the ADAPT group needed more additional therapy than those in the stent retriever group (OR 2.24, 95% CI 1.41-3.57). CONCLUSION: In conclusion, our meta-analysis showed similar clinical outcomes of ADAPT and stent retriever. However, patients in the ADAPT group had higher additional therapy rates than those in the stent retriever group. Due to several inevitable limitations of this meta-analysis, more large-scale randomized controlled trials are required to further investigate this topic.

20.
Stem Cell Res ; 48: 102002, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32979630

RESUMO

Thrombocytopenia 2 (THC2) is a major type of inherited thrombocytopenia caused by the persistent ANKRD26 expression during the late stage of megakaryocytopoiesis. For the first time, we generated a human induced pluripotent stem cell (hiPSC) line SHAMUi001-A from the bone marrow hematopoietic progenitor cells of a THC2 patient, who has a heterozygous mutation (c.-128G>T) in the 5'-UTR of ANKRD26 gene. SHAMUi001-A cells retain the mutation, display pluripotent stem cell characteristics, and have a normal female karyotype. This disease-specific hiPSC line will be a useful model for THC2 research.

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