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1.
Cancer Sci ; 2021 Feb 20.
Artículo en Inglés | MEDLINE | ID: mdl-33609307

RESUMEN

Non-small-cell lung cancer (NSCLC), with an aggressive biological behavior, is one of the most diagnosed cancers. Tumor-associated inflammatory cells play important roles in the interaction between chronic inflammation and lung cancer. However, the mechanisms involved are far from defined. In the present study, by developing an orthotopic NSCLC mouse model on the basis of chronic inflammation, we proved that inflammatory microenvironment accelerated growth of orthotopic xenografts in vivo. Tumor associated macrophages (TAMs) the most abundant population of inflammatory cells were identified. Treatment of macrophage conditional medium (MCM) promoted growth and migration of NSCLC cells. By using bioinformatics analysis, we identified down-regulated PP2Ac expression in NSCLC cells upon treatment of MCM. We further confirmed that this down-regulation was executed through NF-κB pathway dependent manner. Since IKK has been proved to be a substrate of PP2Ac, inhibition on PP2Ac could result in an amplification of NF-κB pathway signaling. Overexpression of PP2Ac, or the dominant negative forms of IKK or IκB, attenuated the acceleration on growth and metastasis by MCM. By using bioinformatics analysis, we further identified CXCL1 and COL6A1 could be downstreams of NF-κB/PP2Ac pathway. Luciferase assay and ChIP assay further confirmed location of response elements on the promoter regions of CXCL1 and COL6A1. Elevated CXCL1 facilitated angiogenesis, while up-regulated COL6A1 promoted proliferation and migration.

2.
G3 (Bethesda) ; 11(2)2021 Feb 09.
Artículo en Inglés | MEDLINE | ID: mdl-33585868

RESUMEN

Bamboos are important nontimber forest plants widely distributed in the tropical and subtropical regions of Asia, Africa, America, and Pacific islands. They comprise the Bambusoideae in the grass family (Poaceae), including approximately 1700 described species in 127 genera. In spite of the widespread uses of bamboo for food, construction, and bioenergy, the gene repertoire of bamboo still remains largely unexplored. Raddia distichophylla (Schrad. ex Nees) Chase, belonging to the tribe Olyreae (Bambusoideae, Poaceae), is a diploid herbaceous bamboo with only slightly lignified stems. In this study, we report a draft genome assembly of the ∼589 Mb whole-genome sequence of R. distichophylla with a contig N50 length of 86.36 Kb. Repeat sequences account for ∼49.08% of the genome assembly, of which LTR retrotransposons occupy ∼35.99% of the whole genome. A total of 30,763 protein-coding genes were annotated in the R. distichophylla genome with an average transcript size of 2887 bp. Access to this herbaceous bamboo genome sequence will provide novel insights into biochemistry, molecular marker-assisted breeding programs, and germplasm conservation for bamboo species worldwide.

3.
Protein Eng Des Sel ; 342021 Feb 15.
Artículo en Inglés | MEDLINE | ID: mdl-33586761

RESUMEN

In vitro display technologies based on phage and yeast have a successful history of selecting single-chain variable fragment (scFv) antibodies against various targets. However, single-chain antibodies are often unstable and poorly expressed in Escherichia coli. Here, we explore the feasibility of converting scFv antibodies to an intrinsically fluorescent format by inserting the monomeric, stable fluorescent protein named thermal green, between the light- and heavy-chain variable regions. Our results show that the scTGP format maintains the affinity and specificity of the antibodies, improves expression levels, allows one-step fluorescent assay for detection of binding and is a suitable reagent for epitope binning. We also report the crystal structure of an scTGP construct that recognizes phosphorylated tyrosine on FcεR1 receptor of the allergy pathway.

5.
Alcohol Clin Exp Res ; 2021 Feb 15.
Artículo en Inglés | MEDLINE | ID: mdl-33587293

RESUMEN

BACKGROUND: Alcohol abuse disrupts gut epithelial integrity, leading to increased permeability of the gastrointestinal tract and subsequent translocation of microbes. Regenerating islet-derived protein 3α (REG3α) and Trefoil factor 3 (TFF3) are mainly secreted to the gut lumen by Paneth and Goblet cells, respectively, and are functionally linked to gut barrier integrity. Circulating levels of REG3α and TFF3 have been identified as biomarkers for gut damage in several human diseases. We aimed to identify whether plasma levels of REG3α and TFF3 were dysregulated and correlated with conventional markers of microbial translocation (MT) and pro-inflammatory mediators in heavy drinkers with and without alcoholic hepatitis (AH). METHODS: Cross-sectional and longitudinal studies were performed to monitor plasma levels of REG3α and TFF3 in 79 AH patients, 66 heavy drinkers without liver disease (HDC), and 46 healthy controls (HC) at enrollment, 6- and 12-month follow-ups. Spearman correlation was carried out to study the relationships of REG3α and TFF3 levels with MT, disease severity, inflammation, and alcohol abstinent effects. RESULTS: At enrollment, AH patients had significantly higher levels of REG3α and TFF3 than HDC and HC. The elevated REG3α levels positively correlated to the 30-day fatality rate. Plasma levels of REG3α and TFF3 in AH patients differentially correlated with conventional MT markers (sCD14, sCD163, and LBP) and several highly up-regulated inflammatory cytokines/chemokines/growth factors. At follow-ups, REG3α and TFF3 levels were decreased in AH patients with alcohol abstinence, but did not fully return to baseline levels. CONCLUSIONS: Circulating levels of REG3α and TFF3 were highly elevated in AH patients and differentially correlated with AH disease severity, MT, and inflammation, thereby serving as potential biomarkers of MT and gut epithelial damage in AH patients.

6.
J Virol ; 2021 Feb 24.
Artículo en Inglés | MEDLINE | ID: mdl-33627394

RESUMEN

Macrophages are one of the major targets of Human Immunodeficiency virus 1 (HIV-1) and play crucial roles in viral dissemination and persistence during AIDS progression. Here, we reveal the dynamic podosome-mediated entry of HIV-1 into macrophages. Inhibition of podosomes prevented HIV-1 entry into macrophages, while stimulation of podosome formation promoted viral entry. Single-virus tracking revealed the temporal and spatial mechanism of the dynamic podosome-mediated viral entry process. The core and ring structures of podosomes played complex roles in viral entry. The HIV coreceptor, CCR5, was recruited to form specific clusters at the podosome ring, where it participated in viral entry. The podosome facilitated HIV-1 entry with a rotation mode triggered by dynamic actin. Our discovery of this novel HIV-1 entry route into macrophages, mediated by podosomes critical for cell migration and tissue infiltration, provides a new view of HIV infection and pathogenesis, which may assist in the development of new antiviral strategies.IMPORTANCEMacrophages are motile leukocytes and play critical roles in HIV-1 infection and AIDS progression. Podosomes, as small dynamic adhesion microdomains driven by the dynamic actin cytoskeleton, are mainly involved in cell migration of macrophages. Herein, we found that HIV-1 uses dynamic podosomes to facilitate its entry into macrophages. Single-virus imaging coupled with drug assays revealed the mechanism underlying the podosome-mediated route of HIV-1 entry into macrophages, including the dynamic relationship between the viral particles and the podosome core and ring structures, the CCR5 coreceptor. The dynamic podosome-mediated entry of HIV-1 into macrophages will be very significant for HIV-1 pathogenesis, especially for viral dissemination via macrophage migration and tissue infiltration. Thus, we report a novel HIV-1 entry route into macrophages mediated by podosomes, which extends our understanding of HIV infection and pathogenesis.

7.
Autophagy ; 2021 Feb 22.
Artículo en Inglés | MEDLINE | ID: mdl-33618632

RESUMEN

In humans, TDRD7 (tudor domain containing 7) mutations lead to a syndrome combining congenital cataracts (CCs) and non-obstructive azoospermia (NOA), characterized by abnormal lens development and spermiogenesis. However, the molecular mechanism underlying TDRD7's functions in eye and testicular development are still largely unknown. Here, we show that the depletion of this gene in mice and humans resulted in the accumulation of autophagosomes and the disruption of macroautophagic/autophagic flux. The disrupted autophagic flux in tdrd7-deficient mouse embryonic fibroblasts (MEFs) was caused by a failure of autophagosome fusion with lysosomes. Furthermore, transcriptome analysis and biochemical assays showed that TDRD7 might directly bind to Tbc1d20 mRNAs and downregulate its expression, which is a key regulator of autophagosome maturation, resulting in the disruption of autophagosome maturation. In addition, we provide evidence to show that TDRD7-mediated autophagosome maturation maintains lens transparency by facilitating the removal of damaged proteins and organelles from lens fiber cells and the biogenesis of acrosome. Altogether, our results showed that TDRD7 plays an essential role in the maturation of autophagosomes and that tdrd7 deletion results in eye defects and testicular abnormalities in mice, implicating disrupted autophagy might be the mechanism that contributes to lens development and spermiogenesis defects in human.

8.
Artículo en Inglés | MEDLINE | ID: mdl-33619018

RESUMEN

BACKGROUND: Modern Western diets are rich in acidogenic foods. Human and in vitro studies suggest a potential link between dietary acid load and cancer risk. However, no epidemiological studies have investigated the association of dietary acid load with the risk of pancreatic cancer. Therefore, we conducted a prospective cohort study to fill this gap. METHODS: A population-based cohort of 95708 American adults was identified. Potential renal acid load (PRAL) and net endogenous acid production (NEAP) were used to assess dietary acid load of each subject, with greater values indicating greater dietary acid load. Cox regression was used to estimate risk estimates for pancreatic cancer incidence. Predefined subgroup analysis was used to identify the potential effect modifiers. RESULTS: A total of 337 pancreatic cancer cases were observed during 848534.0 person-years of follow-up. PRAL score was found to be positively associated with the risk of pancreatic cancer (fully adjusted hazard ratioquartile 4 vs. 1: 1.73; 95% confidence interval: 1.21, 2.48; Ptrend=0.001) in a nonlinear dose-response pattern (Pnonlinearity=0.012). Subgroup analysis found that the positive association of PRAL score with the risk of pancreatic cancer was more pronounced in subjects aged <65 years than in those {greater than or equal to}65 years (Pinteraction=0.018). Similar results were obtained for NEAP score. CONCLUSIONS: Higher dietary acid load is associated with a higher risk of pancreatic cancer. Future studies should validate our findings in other populations and settings. IMPACTS: This is the first epidemiological study suggesting that reducing dietary acid load may be useful in primary prevention of pancreatic cancer.

9.
Jpn J Clin Oncol ; 2021 Feb 23.
Artículo en Inglés | MEDLINE | ID: mdl-33619550

RESUMEN

BACKGROUND: The addition of pertuzumab to trastuzumab plus standard chemotherapy as adjuvant therapy following surgery significantly improved invasive disease-free survival (IDFS) in patients with HER2-positive early breast cancer in the multinational randomized APHINITY trial (NCT01358877, BIG 4-11/BO25126/TOC4939G). We analyzed clinical outcomes in the subgroup of patients recruited at Chinese sites. METHODS: Patients were randomized to standard adjuvant chemotherapy plus 1 year of trastuzumab with pertuzumab or placebo. Patients recruited in mainland China, Hong Kong and Taiwan are included in this descriptive analysis. RESULTS: Chinese patients had similar demographic characteristics to the global population, but a higher proportion had nodal involvement. Although this subgroup analysis was not powered to detect statistical significance, a numerical improvement in IDFS was observed with the addition of pertuzumab to trastuzumab in Chinese patients (hazard ratio, 0.69; 95% confidence interval: 0.39-1.19; 3-year IDFS event-free estimates 92.5% [pertuzumab] and 91.7% [placebo]), which was consistent with the primary analysis of the global population. Further subgroup analyses showed numerical improvements in the Chinese node-positive, hormone receptor-negative and -positive subgroups, although confidence intervals were wide due to the low number of events. The incidence of diarrhea was higher in the pertuzumab arm, and no primary cardiac events occurred in Chinese patients in either arm. CONCLUSIONS: Pertuzumab, used in combination with trastuzumab and chemotherapy in APHINITY, is effective as an adjuvant treatment regimen for Chinese patients with HER2-positive early breast cancer in a setting with curative intent. The safety profile in Chinese patients was consistent with that of the global population.

10.
Nano Lett ; 2021 Feb 16.
Artículo en Inglés | MEDLINE | ID: mdl-33591207

RESUMEN

Monolayer transition metal dichalcogenides bear great potential for photodetection and light harvesting due to high absorption coefficients. However, these applications require dissociation of strongly bound photogenerated excitons. The dissociation can be achieved by vertically stacking different monolayers to realize band alignment that favors interlayer charge transfer. In such heterostructures, the reported recombination times vary strongly, and the charge separation and recombination mechanisms remain elusive. We use two color pump-probe microscopy to demonstrate that the charge separation in a MoSe2/WSe2 heterostructure is ultrafast (∼200 fs) and virtually temperature independent, whereas the recombination accelerates strongly with temperature. Ab initio quantum dynamics simulations rationalize the experiments, indicating that the charge separation is temperature-independent because it is barrierless, involves dense acceptor states, and is promoted by higher-frequency out-of-plane vibrations. The strong temperature dependence of the recombination, on the other hand, arises from a transient indirect-to-direct bandgap modulation by low-frequency shear and layer breathing motions.

11.
Neuroimage Clin ; 30: 102576, 2021 Jan 26.
Artículo en Inglés | MEDLINE | ID: mdl-33561695

RESUMEN

Primary dysmenorrhea (PDM) refers to menstrual pain of which the pathological cause(s) are unknown. This study examined the associations among BDNF Val66Met polymorphisms, menstrual pain severity, and hippocampal volume among young PDM subjects. We recruited 115 PDM subjects, including severe cases (n = 66) and moderate cases (n = 44), and 117 young females (aged 20-30 years) as a control group (CON) for BDNF Val66Met genotyping and MRI examination. The assessment of hippocampal volume involved analysis at various anatomical resolutions, i.e., whole hippocampal volume, hippocampal subfields, and voxel-based morphometry (VBM) volumetric analysis. Two-way ANOVA analyses with planned contrasts and Bonferroni correction were conducted for the assessment of hippocampal volume. Linear regression was used to test for BDNF Val66Met Val allele dosage-dependent effects. We observed no main effects of group, genotype, or group-genotype interactions on bilateral whole hippocampal volumes. Significant interactions between PDM severity and BDNF Val66Met genotype were observed in the right whole hippocampus, subiculum, and molecular layer. Post-hoc analysis revealed that the average hippocampal volume of Val/Val moderate PDM subjects was greater than that of Val/Val severe PDM subjects. Note that right hippocampal volume was greater in the Val/Val group than in the Met/Met group, particularly in the right posterior hippocampal region. Dosage effect analysis revealed a positive dosage-dependent relationship between the Val allele and volume of the right whole hippocampus, subiculum, molecular layer, and VBM-defined right posterior hippocampal region in the moderate PDM subgroup only. These findings indicate that Val/Val PDM subjects are resistant to intermittent moderate pain-related stress, whereas Met carrier PDM subjects are susceptible. When confronted with years of repeated PDM stress, the hippocampus can undergo differential structural changes in accordance with the BDNF genotype and pain severity. This triad study on PDM (i.e., combining genotype with endophenotype imaging results and clinical phenotypes), underscores the potential neurobiological consequences of PDM, which may prefigure in neuroimaging abnormalities associated with various chronic pain disorders. Our results provide evidence for Val allele dosage-dependent protective effects on the hippocampal structure; however, in cases of the Val variant, these effects were modulated in accordance with the severity of menstrual pain.

12.
Biosci Rep ; 41(2)2021 Feb 26.
Artículo en Inglés | MEDLINE | ID: mdl-33564846

RESUMEN

To develop a screening kit for detecting mutation hotspots of the phenylalanine hydroxylase (PAH) gene. Thirteen exons of the PAH gene were sequenced in 84 cases with phenylketonuria (PKU) diagnosed during neonatal genetic and metabolic disease screening in Shaanxi province, and their mutations were analyzed. We designed and developed a screening kit to detect nine mutation sites covering more than 50% of the PAH mutations found in Shaanxi province (c.728G>A, c.1197A>T, c.331C>T, c.1068C>A, c.611A>G, c.1238G>C, c.721C>T, c.442-1G>A, and c.158G>A) by using amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) combined with fluorescent probe technology. Peripheral blood and dried blood samples from PKU families were used for clinical verification of the newly developed kit. PAH gene mutations were detected in 84 children diagnosed with PKU. A total of 159 mutant alleles were identified, consisting of 100 missense mutations, 28 shear mutations, 24 nonsense mutations, and 7 deletion mutations. Exon 7 had the highest mutation frequency (32.08%). Among them, the mutation frequency of p.R243Q was the highest, accounting for 20.13% of all mutations, followed by p.R111X, IVS4-1G>A, EX6-96A>G, and p.R413P; these five loci accounted for 47.17% (75/159) of all mutations. In addition, we identified three previously unreported PAH gene mutations (p.C334X, p.G46D, and p.G256D). Fifteen mutation sites were identified in the 47 PAH carriers identified by next-generation sequencing (NGS), which were verified by the newly developed kit, with an agreement rate of 100%. This newly developed kit based on ARMS-PCR combined with fluorescent probe technology can be used to detect common PAH gene mutations.

13.
Ann Palliat Med ; 10(1): 425-433, 2021 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-33545774

RESUMEN

BACKGROUND: Midline catheters (MCs) have been widely applied in clinical settings as they can provide painless venous access, thus improving the quality of life and reducing medical costs. Nursing-sensitive indicators (NSIs) are real and effective measures of nursing quality. Using evidence-based methods, we established the NSIs of MC care, with an attempt to provide a basis for evaluating and monitoring nursing quality for MC use. METHODS: An electronic search was performed in 5 databases including China National Knowledge Infrastructure (CNKI), Chinese Scientific Journal Database (VIP), Wanfang Data, PubMed, and Web of Science to identify studies that evaluated nursing quality during MC use. Two evaluators independently selected literature, extracted data, and evaluated the risk of bias. According to the Donabedian's structure-process-outcome model, we divided the NSIs into 3 levels. RESULTS: The established NSIs for MC use included 3 indicators (i.e., structure indicators, process indicators, and outcome indicators), among which there were 3 level-2 indicators and 7 level-3 indicators at the structure level, 2 level-2 indicators and 9 level-3 indicators at the process level, and 5 level-2 indicators and 17 level-3 indicators at the outcome level. CONCLUSIONS: The established NSIs for MC use offer a set of objective criteria for evaluating nursing performance during MC use and will help to improve nursing quality control.

14.
Nat Genet ; 53(2): 127, 2021 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-33547446
15.
Chem Commun (Camb) ; 2021 Feb 01.
Artículo en Inglés | MEDLINE | ID: mdl-33524086

RESUMEN

Here, we introduce two Au23 nanoclusters to unveil the significance of metal-ligand binding-induced assembly. The Au23 cluster protected by the thiolate ligand is packed in the shell-by-shell arrangement, while the Au23 cluster capped by dual ligands of thiolate and PPh3 is constructed from the assembly of Au4 tetrahedra. Furthermore Au23 from Au4 tetrahedron-based assembly is capable of converting absorbed visible light into more excitons, compared to Au23 from shell-by-shell assembly, thus exhibiting more efficient photocatalysis.

16.
Sensors (Basel) ; 21(3)2021 Jan 28.
Artículo en Inglés | MEDLINE | ID: mdl-33525633

RESUMEN

This paper introduces a real-time processing and classification of raw sensor data using a convolutional neural network (CNN). The established system is a microcontroller-unit (MCU) implementation of an intelligent gripper for shape identification of grasped objects. The pneumatic gripper has two embedded accelerometers to sense acceleration (in the form of vibration signals) on the jaws for identification. The raw data is firstly transferred into images by short-time Fourier transform (STFT), and then the CNN algorithm is adopted to extract features for classifying objects. In addition, the hyperparameters of the CNN are optimized to ensure hardware implementation. Finally, the proposed artificial intelligent model is implemented on a MCU (Renesas RX65N) from raw data to classification. Experimental results and discussions are introduced to show the performance and effectiveness of our proposed approach.

17.
Opt Lett ; 46(4): 868-871, 2021 Feb 15.
Artículo en Inglés | MEDLINE | ID: mdl-33577534

RESUMEN

A photonic method to generate and transmit quadruple bandwidth dual-band dual-chirp microwave waveforms with immunity to fiber chromatic dispersion induced power fading is proposed and experimentally demonstrated, which is suitable for Doppler blind-speed elimination, small target detection, and multiband detection in multiband radar systems. A dual-polarization dual-parallel Mach-Zehnder modulator is utilized to realize carrier-suppressed harmonic single-sideband modulation of a radio frequency carrier and carrier-suppressed DSB modulation of a baseband single-chirped waveform at two orthogonal polarization states. After photoelectronic conversion, dual-band bandwidth-quadrupling dual-chirp waveforms are generated. Moreover, different from traditional DSB-based dual-chirp signal generation, the generated dual-chirp microwave waveforms can be transmitted over fiber without power fading, which is significant in dual-band radars for one to multiple base station transmissions.

18.
Int J Infect Dis ; 2021 Feb 09.
Artículo en Inglés | MEDLINE | ID: mdl-33578019

RESUMEN

OBJECTIVE: To investigated the epidemiological dynamics, transmission patterns and the clinical outcomes of Coronavirus disease 2019 (COVID-19) in familial cluster patients in Wuhan, China. METHODS: Between January 22, 2020 and February 4, 2020, we enrolled 214 families for this retrospective study. The COVID-19 cases were diagnosed using Real-time reverse-transcriptase polymerase chain reaction (RT-PCR). Number of COVID-19 subjects in a family, their relationship with index patients, the key time-to-event, exposure history, and the clinical outcomes were obtained through telephone calls. RESULTS: Overall 96 families (44.9%) met the criteria of a familial cluster, which is at least one confirmed case in addition to the index patient in the same household. The secondary attack rate was 42.9%, and nearly 95% of index patients transmitted the infection to ≤2 other family members. High transmission pattern was noted between couples (51.0%) and among multi-generations (27.1%). The median serial interval distribution in familial clusters was 5 days (95% CI, 4 to 6). The case fatality rate was 8.7% in index patients and 1.7% in non-familial clusters patients (p = 0.023). CONCLUSIONS: There is an related higher attack rate and the worse clinical outcomes in COVID-19 family clusters.

19.
Clin Nutr ; 2021 Jan 29.
Artículo en Inglés | MEDLINE | ID: mdl-33579553

RESUMEN

BACKGROUND & AIMS: The Global Leadership Initiative on Malnutrition (GLIM) released new universal criteria for diagnosing and grading malnutrition, and calls for further investigations not only in different clinical setting but also in GLIM itself including reference value, combination and weight of different GLIM criteria. This study aimed to weigh the GLIM criteria and develop a scored-GLIM system, and then validate as well as evaluate its application in nutritional assessment and survival prediction for patients with cancer. DESIGN: A total of 3547 patients in the primary cohort and 415 patients in the validation cohort were included in the study. Patients' nutritional status were retrospectively assessed using the GLIM criteria. Kaplan-Meier survival curves and multivariate Cox regression analyses were performed to analyze the association between nutritional status and overall survival (OS). A nomogram was produced to quantify the GLIM criteria and develop the scored-GLIM system. C-index, receiver operating characteristic (ROC) curve and calibration curve analyses were performed to validate the predictive accuracy and discriminatory capacity of the scored-GLIM. Finally, a decision curve was applied to assess the clinical utility of the scored-GLIM system. RESULTS: In the primary cohort, 70.3% of patients were diagnosed as malnutrition. The malnutrition severity grading according to the GLIM criteria were associated with the prognosis of patients with cancer (HR 1.42, 1.23 to 1.65 for moderate malnutrition; HR 1.80,1.84 to 2.09 for severe malnutrition). The weight of each GLIM criteria was calculated, and unintentional weight loss was the most determining factor acting upon mortality (HR 1.82, 1.64 to 2.10 for stage II and HR 1.50, 1.31 to 1.73 for stage I). A nomogram was constructed by four factors of GLIM to weigh the GLIM criteria. The areas under the ROC curve were 65.3 (1-year ROC) and 65.5 (3-year ROC), and the C-index was 0.62, and the calibration curves fitted well. Decision curve analysis demonstrated the clinical usefulness of the scored-GLIM system. CONCLUSION: The accuracy and net clinical benefit of scored-GLIM system were similar to scored-PG-SGA but higher than GLIM both in nutrition assessment and in survival prediction for patients with cancer. These findings, along with its time-savings advantages over scored-PG-SGA, suggest scored-GLIM be a better nutritional assessment tool.

20.
BMC Med Genomics ; 14(1): 46, 2021 Feb 10.
Artículo en Inglés | MEDLINE | ID: mdl-33568133

RESUMEN

BACKGROUND: Graves' disease(GD) has a tendency for familial aggregation, but it is uncommon to occur in more than two generations. However, little is known about susceptibility genes for GD in the three-generation family. METHODS: DNA were extracted from three-generation familial GD patient with a strong genetic background in a Chinese Han population. The Whole Exome Sequencing (WES) was utilized to screen the genome for SNVs associated with GD and the Sanger Sequencing was used to confirm the potential disease-causing genes. RESULTS: In the case study, there were five patients with Graves' disease(GD) from a three-generation family. The SNVs of MAP7D2(c. 452C > T: p. A151V), SLC1A7(c. 1204C > T: p. R402C), TRAF3IP3(c. 209A > T: p. N70I), PTPRB(c. 3472A > G: p. S1158G), PIK3R3(c. 121C > T: p. P41S), DISC1(c. 1591G > C: p. G531R) were found to be associated with the familial GD and the Sanger sequencing had confirmed these variations. Furthermore, PolyPhen-2 score showed that the variants in TRAF3IP3, PTPRB, PIK3R3 are more likely to change protein functions. CONCLUSION: The MAP7D2, SLC1A7, TRAF3IP3, PTPRB, PIK3R3, DISC1 may be the candidate susceptibility genes for familial GD from a three generations family.

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