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1.
Nat Commun ; 15(1): 1961, 2024 Mar 04.
Artículo en Inglés | MEDLINE | ID: mdl-38438365

RESUMEN

Three-dimensional models of Earth's seismic structure can be used to identify temperature-dependent phenomena, including mineralogical phase and spin transformations, that are obscured in 1-D spherical averages. Full-waveform tomography maps seismic wave-speeds inside the Earth in three dimensions, at a higher resolution than classical methods. By providing absolute wave speeds (rather than perturbations) and simultaneously constraining bulk and shear wave speeds over the same frequency range, it becomes feasible to distinguish variations in temperature from changes in composition or spin state. We present a quantitative joint interpretation of bulk and shear wave speeds in the lower mantle, using a recently published full-waveform tomography model. At all depths the diversity of wave speeds cannot be explained by an isochemical mantle. Between 1000 and 2500 km depth, hypothetical mantle models containing an electronic spin crossover in ferropericlase provide a significantly better fit to the wave-speed distributions, as well as more realistic temperatures and silica contents, than models without a spin crossover. Below 2500 km, wave speed distributions are explained by an enrichment in silica towards the core-mantle boundary. This silica enrichment may represent the fractionated remains of an ancient basal magma ocean.

2.
Ophthalmol Sci ; 2(1): 100093, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-36246175

RESUMEN

Purpose: Crystallin protein mutations are associated with congenital cataract (CC), and several disease-causing mutations in the CRYGC gene have been identified. We present the location of a new mutation in CRYGC in members of a Chinese family who presented with CCs with or without microcornea. Design: Observational study. Participants: A Chinese family diagnosed with autosomal dominant (AD) CCs with or without microphthalmia. Methods: Because this was an observational study, it was not registered as a clinical trial. The proband and her 2 children were diagnosed with AD CCs and microcornea and were recruited for the study. Participants underwent complete ophthalmological examinations, and blood samples were used for genomic extraction. Main Outcome Measures: We detected 1 disease-associated variant using Exomiser analysis by matching the proband's phenotype and the inheritance pattern. The variant was determined to be pathogenic according to American College of Medical Genetics and Genomics (ACMG) guidelines. Results: We detected 1 disease-associated variant using Exomiser analysis by matching the proband's phenotype and the inheritance pattern. The variant was determined to be pathogenic according to the American College of Medical Genetics and Genomics guidelines. Next-generation sequencing was verified using Sanger sequencing, and we confirmed that the proband and her children carried the same mutation. We identified the heterozygous variant c.389_390insGCTG (p.C130fs), which includes a frameshift mutation. The residues in p.C130fs are all highly conserved across species. This disease-causing frameshift mutation in the CRYGC gene is not currently present in the ClinVar database. Conclusions: Our findings expand the repertoire of known mutations in the CRYGC gene that cause CCs and provide new insights into the etiology and molecular diagnosis of CCs; however, the molecular mechanism of this mutation warrants further investigation.

3.
PeerJ ; 10: e13981, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36193421

RESUMEN

The basic helix-loop-helix (bHLH) transcription factor gene family is one of the largest gene families and is extensively involved in plant growth, development, biotic and abiotic stress responses. Tung tree (Vernicia fordii) is an economically important woody oil plant that produces tung oil rich in eleostearic acid. However, the characteristics of the bHLH gene family in the tung tree genome are still unclear. Hence, VfbHLHs were first searched at a genome-wide level, and their expression levels in various tissues or under low temperature were investigated systematically. In this study, we identified 104 VfbHLHs in the tung tree genome, and these genes were classified into 18 subfamilies according to bHLH domains. Ninety-eight VfbHLHs were mapped to but not evenly distributed on 11 pseudochromosomes. The domain sequences among VfbHLHs were highly conserved, and their conserved residues were also identified. To explore their expression, we performed gene expression profiling using RNA-Seq and RT-qPCR. We identified five, 18 and 28 VfbHLH genes in female flowers, male flowers and seeds, respectively. Furthermore, we found that eight genes (VfbHLH29, VfbHLH31, VfbHLH47, VfbHLH51, VfbHLH57, VfbHLH59, VfbHLH70, VfbHLH72) were significant differential expressed in roots, leaves and petioles under low temperature stress. This study lays the foundation for future studies on bHLH gene cloning, transgenes, and biological mechanisms.


Asunto(s)
Aleurites , Aleurites/genética , Árboles/genética , Perfilación de la Expresión Génica , Semillas/genética , Flores
4.
Invest Ophthalmol Vis Sci ; 63(3): 3, 2022 Mar 02.
Artículo en Inglés | MEDLINE | ID: mdl-35238868

RESUMEN

PURPOSE: To determine the effect of obstructive sleep apnea syndrome (OSA) on lacrimal gland function and its mechanism. METHODS: Male mice aged seven to eight weeks were housed in cages with cyclic intermittent hypoxia to mimic OSA, and the control group was kept in a normal environment. Slit-lamp observation, fluorescein staining, and corneal sensitivity detection are used to assess cornea changes. Tear secretion was detected by phenol red cotton thread, and the pathological changes of lacrimal gland were observed by hematoxylin and eosin staining, oil red O staining, cholesterol and triglyceride kits, immunofluorescence staining, immunohistochemical staining, real-time polymerase chain reaction, transmission electron microscopy, and Western blot. RESULTS: Studies revealed a decreased tear secretion, corneal epithelial defects and corneal hypersensitivity. Myoepithelial cell damage, abnormal lipid accumulation, reduced cell proliferation, increased apoptosis and inflammatory cell infiltration in the lacrimal gland were also seen. Hifα and NF-κB signaling pathways, moreover, were activated, while Pparα was downregulated, in the lacrimal glands of OSA mice. Fenofibrate treatment significantly alleviated pathological changes of the lacrimal gland induced by OSA. CONCLUSION: OSA disturbs the Hifα/Pparα/NF-κB signaling axis, which affects lacrimal gland structure and function and induces dry eye.


Asunto(s)
Síndromes de Ojo Seco , Aparato Lagrimal , Apnea Obstructiva del Sueño , Animales , Síndromes de Ojo Seco/metabolismo , Aparato Lagrimal/metabolismo , Masculino , Ratones , FN-kappa B/metabolismo , PPAR alfa/metabolismo , Apnea Obstructiva del Sueño/metabolismo , Lágrimas/metabolismo
5.
Invest Ophthalmol Vis Sci ; 63(3): 14, 2022 03 02.
Artículo en Inglés | MEDLINE | ID: mdl-35289845

RESUMEN

Purpose: To investigate microenvironment changes of the lacrimal gland after obstruction of lacrimal gland ducts. Methods: The ducts of rat exorbital lacrimal gland were ligated by sutures for different durations. After that, the sutures in some animals were released, and they were observed for 21 days to evaluate the recovery of the lacrimal gland. Slit lamp and tear secretion test was performed to evaluate ocular surface and lacrimal gland function. The lacrimal gland and cornea were harvested and processed for hematoxylin and eosin staining, oil red O staining, LipidTOX staining, Masson staining, quantitative real time polymerase chain reaction, and immunofluorescence staining. Results: After the lacrimal gland ducts were blocked, tear secretion and the weight of the lacrimal gland were reduced. Incidence of corneal neovascularization increased after seven days. Intraglandular ducts dilated and acini destroyed. Long-term ligation induced fibrosis and lipid accumulation of the lacrimal glands. Inflammatory cell infiltrated and inflammatory factors upregulated. Proliferative and apoptotic cells increased. Structure of myoepithelial cells and basement membrane was destroyed. The p63 expression increased whereas Pax6 expression decreased. After suture release, tear secretion and structure of acini could recover in less than seven days after ligation, with a decrease in inflammatory cell infiltration and fibrosis relief. Apoptotic cells and proliferative cells increased at five days thereafter. The structure of the myoepithelial cells and basement membrane could not recover three days after ligation, and the number of mesenchymal cells increased in ligation after five to 14 days. Conclusions: Blockage of the lacrimal gland ducts results in dystrophy of lacrimal gland acini cells, inflammation, and lipid accumulation of the lacrimal gland microenvironment. Long-term duct blockage will cause irreversible lacrimal gland failure.


Asunto(s)
Aparato Lagrimal , Animales , Córnea , Fibrosis , Inflamación/metabolismo , Aparato Lagrimal/metabolismo , Lípidos , Ratas
6.
Front Genet ; 12: 685541, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34880896

RESUMEN

Wandong cattle are an autochthonous Chinese breed used extensively for beef production. The breed tolerates extreme weather conditions and raw feed and is resistant to tick-borne diseases. However, the genetic basis of testis development and sperm production as well as breeding management is not well established in local cattle. Therefore, improving the reproductive efficiency of bulls via genetic selection is crucial as a single bull can breed thousands of cows through artificial insemination (AI). Testis development and spermatogenesis are regulated by hundreds of genes and transcriptomes. However, circular RNAs (circRNAs) are the key players in many biological developmental processes that have not been methodically described and compared between immature and mature stages in Bovine testes. In this study, we performed total RNA-seq and comprehensively analyzed the circRNA expression profiling of the testis samples of six bulls at 3 years and 3 months of developmental age. In total, 17,013 circRNAs were identified, of which 681 circRNAs (p-adjust < 0.05) were differentially expressed (DE). Among these DE circRNAs, 579 were upregulated and 103 were downregulated in calf and bull testes. The Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analyses revealed that the identified target genes were classified into three broad functional categories, including biological process, cellular component, and molecular function, and were enriched in the lysine degradation, cell cycle, and cell adhesion molecule pathways. The binding interactions between DE circRNAs and microRNAs (miRNAs) were subsequently constructed using bioinformatics approaches. The source genes ATM, CCNA1, GSK3B, KMT2C, KMT2E, NSD2, SUCLG2, QKI, HOMER1, and SNAP91 were found to be actively associated with bull sexual maturity and spermatogenesis. In addition, a real-time quantitative polymerase chain reaction (RT-qPCR) analysis showed a strong correlation with the sequencing data. Moreover, the developed model of Bovine testes in the current study provides a suitable framework for understanding the mechanism of circRNAs in the development of testes and spermatogenesis.

7.
Animals (Basel) ; 11(7)2021 Jul 05.
Artículo en Inglés | MEDLINE | ID: mdl-34359134

RESUMEN

The mRNAs and long non-coding RNAs axes are playing a vital role in the regulating of post-transcriptional gene expression. Thereby, elucidating the expression pattern of mRNAs and long non-coding RNAs underlying testis development is crucial. In this study, mRNA and long non-coding RNAs expression profiles were investigated in 3-month-old calves and 3-year-old mature bulls' testes by total RNA sequencing. Additionally, during the gene level analysis, 21,250 mRNAs and 20,533 long non-coding RNAs were identified. As a result, 7908 long non-coding RNAs (p-adjust < 0.05) and 5122 mRNAs (p-adjust < 0.05) were significantly differentially expressed between the distinct age groups. In addition, gene ontology and biological pathway analyses revealed that the predicted target genes are enriched in the lysine degradation, cell cycle, propanoate metabolism, adherens junction and cell adhesion molecules pathways. Correspondingly, the RT-qPCR validation results showed a strong consistency with the sequencing data. The source genes for the mRNAs (CCDC83, DMRTC2, HSPA2, IQCG, PACRG, SPO11, EHHADH, SPP1, NSD2 and ACTN4) and the long non-coding RNAs (COX7A2, COX6B2, TRIM37, PRM2, INHBA, ERBB4, SDHA, ATP6VOA2, FGF9 and TCF21) were found to be actively associated with bull sexual maturity and spermatogenesis. This study provided a comprehensive catalog of long non-coding RNAs in the bovine testes and also offered useful resources for understanding the differences in sexual development caused by the changes in the mRNA and long non-coding RNA interaction expressions between the immature and mature stages.

8.
Ann Transl Med ; 7(23): 722, 2019 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-32042738

RESUMEN

BACKGROUND: Our study aimed to reveal the relationship of maternal pentraxin 3 (PTX3)'s serum concentrations in early pregnancy with gestational diabetes mellitus (GDM) and to explore its potential in the prediction of GDM. METHODS: Totally 824 pregnant women were enrolled and divided into a GDM group and a normal glucose tolerance (NGT) group, whose maternal fasting serum PTX3 levels, plasma glucose and insulin were collected. The beta cell function index and quantitative insulin sensitivity check index (QUICKI) was calculated and a homeostatic model assessment of insulin resistance (HOMA-IR) was used with SPSS 22 software used for statistical analysis. RESULTS: Of all subjects, 13.59% developed GDM. Compared to the NGT group, the PTX3 level was increased in the GDM group (1.48 vs. 1.52 ng/mL, P<0.05), and independently associated with the prediction of GDM (4.209, 95% CI, 1.756-10.091) (P=0.001). The area under receiver operating characteristic curve (AUROC) of the combined screening of PTX3 for GDM was incremented to 0.657 by the addition of maternal characteristics, and it reached a maximum of 0.743 in further combination with biochemical markers. CONCLUSIONS: Serum PTX3 levels in early pregnancy may provide a useful approach for early prediction of GDM.

9.
Int J Gynaecol Obstet ; 119(3): 221-3, 2012 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-22925820

RESUMEN

OBJECTIVE: To compare the difference in maternal outcomes between early and late use of transverse annular compression sutures (TACS) during cesarean delivery among women with complete placenta previa (CPP). METHODS: A retrospective study of 36 women with CPP was conducted. Percentiles of blood loss before TACS were calculated. The transfusion rate, sensitivity, specificity, Youden index, positive predictive value, and negative predictive value were also estimated. Patients were assigned to either the early TACS group or the late TACS group based on the highest Youden index. Maternal outcomes of the 2 groups were compared. RESULTS: The Youden index for transfusion rate was highest when blood loss before TACS reached 500 mL. Blood loss before intervention in the late TACS group was significantly higher than in the early TACS group (735.0 ± 123.7 mL versus 396.9 ± 76.3 mL; P<0.001). More women in the late TACS group than in the early TACS group required blood transfusion (60.0% versus 12.5%; P=0.004) and the volume of blood transfused was significantly lower in the early TACS group than in the late TACS group (137.5 ± 377.5 mL versus 806.7 ± 619.3 mL; P=0.001). CONCLUSION: Early implementation of TACS could lead to improved maternal outcomes.


Asunto(s)
Cesárea/métodos , Placenta Previa/cirugía , Hemorragia Posparto/prevención & control , Técnicas de Sutura , Adulto , Pérdida de Sangre Quirúrgica/prevención & control , Transfusión Sanguínea/métodos , Femenino , Humanos , Valor Predictivo de las Pruebas , Embarazo , Resultado del Embarazo , Estudios Retrospectivos , Sensibilidad y Especificidad , Factores de Tiempo , Resultado del Tratamiento , Adulto Joven
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