Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 34
Filtrar
Mais filtros








Base de dados
Intervalo de ano de publicação
1.
Cogn Affect Behav Neurosci ; 24(3): 491-504, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38351397

RESUMO

Capacity-limited visual working memory (VWM) requires that individuals have sufficient memory space and the ability to filter distractors. Negative emotional states are known to impact VWM storage, yet their influence on distractor filtering within VWM remains underexplored. We conducted direct neural measurement of participants (n = 56) who conducted a lateralized change detection task with distractors, while manipulating the emotional state by presenting neutral or negative images before each trial. We found a detrimental effect of distractors on memory accuracy under both neutral and negative emotional states. Using the event-related potential (ERP) component, contralateral delay activity (CDA; sensitive to VWM load), to observe the VWM load in each condition, we found that in the neutral state, the participants showed significantly higher late CDA amplitudes when remembering 4 targets compared with 2 targets and 2 targets with 2 distractors but no significant difference when remembering 2 targets compared with 2 targets with 2 distractors. In the negative state, no significant CDA amplitude differences were evident when remembering 4 targets and 2 targets, but CDA was significantly higher when remembering 2 targets with 2 distractors compared with 2 targets. These results suggest that the maximum number of items participants could store in VWM was lower under negative emotional states than under neutral emotional states. Importantly, the participants could filter out distractors when in a neutral emotional state but not in a negative emotional state, indicating that negative emotional states impair their ability to filter out distractors in VWM.


Assuntos
Eletroencefalografia , Emoções , Potenciais Evocados , Memória de Curto Prazo , Humanos , Feminino , Masculino , Memória de Curto Prazo/fisiologia , Emoções/fisiologia , Adulto Jovem , Potenciais Evocados/fisiologia , Adulto , Atenção/fisiologia , Encéfalo/fisiologia , Adolescente
2.
Hortic Res ; 11(1): uhad231, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38288253

RESUMO

Flavonoids are important compounds in tea leaves imparting bitter and astringent taste, which also play key roles in tea plants responding to environmental stress. Our previous study showed that the expression level of CsMYB67 was positively correlated with the accumulation of flavonoids in tea leaves as exposed to sunlight. Here, we newly reported the function of CsMYB67 in regulating flavonoid biosynthesis in tea leaves. CsMYB67 was localized in the nucleus and responded to temperature. The results of transient expression assays showed the co-transformation of CsMYB67 and CsTTG1 promoted the transcription of CsANS promoter in the tobacco system. CsTTG1 was bound to the promoter of CsANS based on the results of yeast one-hybrid (Y1H) and transient expression assays, while CsMYB67 enhanced the transcription of CsANS through protein interaction with CsTTG1 according to the results of yeast two-hybrid (Y2H) and bimolecular fluorescence complementation (BiFC). Thus, CsMYB67-CsTTG1 module enhanced the anthocyanin biosynthesis through up-regulating the transcription of CsANS. Besides, CsMYB67 also enhanced the transcription of CsFLS and CsUFGT through forming transcription factor complexes. The function of CsMYB67 on flavonoid biosynthesis in tea leaves was validated by gene suppression assay. As CsMYB67 was suppressed, the transcriptional level of CsFLS was greatly reduced, leading to a significant increase in the contents of total catechins and total anthocyanidins. Hence, CsMYB67 plays an important role in regulating the downstream pathway of flavonoid biosynthesis in summer tea leaves.

3.
Environ Sci Pollut Res Int ; 31(8): 11543-11558, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38212564

RESUMO

Microplastics (MPs) have attracted much attention in recent years, due to the difficulty of degradation and threats to ecological systems and humans. Based on the analysis of 1429 articles on MPs in soil, we found that we know little about the behavior and fate of manure-born MPs from the livestock and poultry production systems to agriculture soils. This review summarizes the analytical methods for sampling, separation, and identification and the occurrence of MPs in livestock and poultry manure, mainly based on 7 surveys related to manure-born MPs. Then, the sources, fate, and environmental risks of MPs in livestock and poultry manure are discussed. MPs, heavy metals, pathogens, antibiotic resistance genes, and persistent organic pollutants are common pollutants in livestock and poultry manure. Worse, manure-born MPs will become smaller, rougher, and more numerous and could easily form more toxic compound pollution after complicated processes of manure treatment, which seriously threatens agricultural soil safety. Finally, an outlook is offered for future research. We hope this article to attract attention to the risks of MPs in livestock and poultry manure and provide a reference for future research.


Assuntos
Aves Domésticas , Solo , Humanos , Animais , Microplásticos , Plásticos , Gado , Esterco , Agricultura
4.
Food Chem ; 441: 138341, 2024 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-38176147

RESUMO

The key components dominating the quality of green tea and black tea are still unclear. Here, we respectively produced green and black teas in March and June, and investigated the correlations between sensory quality and chemical compositions of dry teas by multivariate statistics, bioinformatics and artificial intelligence algorithm. The key chemical indices were screened out to establish tea sensory quality-prediction models based on the result of OPLS-DA and random forest, namely 4 flavonol glycosides of green tea and 8 indices of black tea (4 pigments, epigallocatechin, kaempferol-3-O-rhamnosyl-glucoside, ratios of caffeine/total catechins and epi/non-epi catechins). Compared with OPLS-DA and random forest, the support vector machine model had good sensory quality-prediction performance for both green tea and black tea (F1-score > 0.92), even based on the indices of fresh tea leaves. Our study explores the potential of artificial intelligence algorithm in classification and prediction of tea products with different sensory quality.


Assuntos
Camellia sinensis , Catequina , Chá/química , Inteligência Artificial , Cafeína/análise , Camellia sinensis/química , Catequina/análise , Algoritmos
5.
Stat Med ; 43(2): 315-341, 2024 01 30.
Artigo em Inglês | MEDLINE | ID: mdl-38010193

RESUMO

The two-stage preference design (TSPD) enables inference for treatment efficacy while allowing for incorporation of patient preference to treatment. It can provide unbiased estimates for selection and preference effects, where a selection effect occurs when patients who prefer one treatment respond differently than those who prefer another, and a preference effect is the difference in response caused by an interaction between the patient's preference and the actual treatment they receive. One potential barrier to adopting TSPD in practice, however, is the relatively large sample size required to estimate selection and preference effects with sufficient power. To address this concern, we propose a group sequential two-stage preference design (GS-TSPD), which combines TSPD with sequential monitoring for early stopping. In the GS-TSPD, pre-planned sequential monitoring allows investigators to conduct repeated hypothesis tests on accumulated data prior to full enrollment to assess study eligibility for early trial termination without inflating type I error rates. Thus, the procedure allows investigators to terminate the study when there is sufficient evidence of treatment, selection, or preference effects during an interim analysis, thereby reducing the design resource in expectation. To formalize such a procedure, we verify the independent increments assumption for testing the selection and preference effects and apply group sequential stopping boundaries from the approximate sequential density functions. Simulations are then conducted to investigate the operating characteristics of our proposed GS-TSPD compared to the traditional TSPD. We demonstrate the applicability of the design using a study of Hepatitis C treatment modality.


Assuntos
Preferência do Paciente , Projetos de Pesquisa , Humanos , Tamanho da Amostra , Resultado do Tratamento
6.
Small ; 20(3): e2304892, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37691021

RESUMO

Layered indium selenide (InSe) is a new 2D semiconductor material with high carrier mobility, widely adjustable bandgap, and high ductility. However, its ion storage behavior and related electrochemical reaction mechanism are rarely reported. In this study, InSe nanoflakes encapsulated in conductive polypyrrole (InSe@PPy) are designed in consideration of restraining the severe volume change in the electrochemical reaction and increasing conductivity via in situ chemical oxidation polymerization. Density functional theory calculations demonstrate that the construction of heterostructure can generate an internal electric field to accelerate electron transfer via additional driving forces, offering synergistically enhanced structural stability, electrical conductivity, and Na+ diffusion process. The resulting InSe@PPy composite shows outstanding electrochemical performance in the sodium ion batteries system, achieving a high reversible capacity of 336.4 mA h g-1 after 500 cycles at 1 A g-1 and a long-term cyclic stability with capacity of 274.4 mA h g-1 after 2800 cycles at 5 A g-1 . In particular, the investigation of capacity fluctuation within the first cycling reveals the alternating significance of intercalation and conversion reactions and evanescent alloying reaction. The combined reaction mechanism of insertion, conversion, and alloying of InSe@PPy is revealed by in situ X-ray diffraction, ex situ electrochemical impedance spectroscopy, and transmission electron microscopy.

7.
Angew Chem Int Ed Engl ; 63(4): e202312534, 2024 Jan 22.
Artigo em Inglês | MEDLINE | ID: mdl-37968890

RESUMO

Currently, purely organic compounds showing ambient phosphorescence with high efficiency (ΦP ) and ultra-long lifetime (τP ) are quite rare and often need to be achieved in hydrophilic poly(vinyl alcohol)-based hosts. This severely limits their applications. Here, we provide a solution to this issue by constructing an ortho-linked donor-acceptor (D-A) dyad whose D moiety has not only a long-lived T1 state to achieve a long τP , but also a Tn state that is close to the S1 state of the dyad to trigger effective spin-orbit charge transfer intersystem crossing (SOCT-ISC). The rationality of this strategy was validated by a new phosphor OF-BCz that is able to show a τP of 1.92 s and a ΦP of 30 % even in a less rigid matrix of poly(methyl methacrylate) (PMMA). Excitingly, OF-BCz exhibited its potential as both a photocuring initiator and an in situ quality indicator, allowing for the visual detection of defects in photolithographic patterning.

8.
Development ; 150(24)2023 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-37997706

RESUMO

Sperm with normal morphology and motility are essential for successful fertilization, and the strong attachment of the sperm head-tail coupling apparatus to the nuclear envelope during spermatogenesis is required to ensure the integrity of sperm for capacitation and fertilization. Here, we report that Arrdc5 is associated with spermatogenesis. The Arrdc5 knockout mouse model showed male infertility characterized by a high bent-head rate and reduced motility in sperm, which led to capacitation defects and subsequent fertilization failure. Through mass spectrometry, we found that ARRDC5 affects spermatogenesis by affecting NDC1 and SUN5. We further found that ARRDC5 might affect the vesicle-trafficking protein SEC22A-mediated transport and localization of NDC1, SUN5 and other head-tail coupling apparatus-related proteins that are responsible for initiating the attachment of the sperm head and tail. We finally performed intracytoplasmic sperm injection as a way to explore therapeutic strategies. Our findings demonstrate the essential role and the underlying molecular mechanism of ARRDC5 in anchoring the sperm head to the tail during spermatogenesis.


Assuntos
Infertilidade Masculina , Sêmen , Humanos , Animais , Camundongos , Masculino , Sêmen/metabolismo , Espermatogênese/genética , Espermatozoides/metabolismo , Cabeça do Espermatozoide/metabolismo , Proteínas/metabolismo , Infertilidade Masculina/genética , Infertilidade Masculina/metabolismo , Camundongos Knockout , Proteínas de Membrana/metabolismo
9.
Hum Genet ; 142(11): 1621-1631, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37768355

RESUMO

Oocyte maturation defects are major phenotypes resulting in female infertility. Although many genetic factors have been found to be responsible for these phenotypes, the underlying pathogenic genes and variants remain to be identified. The anaphase promoting complex or cyclosome (APC/C) is known to be essential in the metaphase-to-anaphase transition. In this study, we identified two homozygous missense variants (c.986A > G, p.Y329C and c.988C > T, p.R330C) in CDC23 that are responsible for female infertility characterized by oocyte maturation defects in three infertile individuals. CDC23 (cell division cycle 23) is one of the core subunits of the APC/C. In vitro experiments showed that the variant c.986A > G (p.Y329C) led to a decrease in CDC23 protein level and the variant c.988C > T (p.R330C) changed the localization of CDC23 in HeLa cells and mouse oocytes. In vivo studies showed that Cdc23Y329C/Y329C mice successfully mimicked the patients' phenotype by causing low expression of CDC23 and APC4 and the accumulation of securin and cyclin B1 in oocytes. AZ3146 treatment was able to rescue the phenotype. Taken together, our findings reveal the important roles of CDC23 in human oocyte maturation and provide a new genetic marker for female infertility.


Assuntos
Proteínas de Ciclo Celular , Infertilidade Feminina , Humanos , Feminino , Animais , Camundongos , Proteínas de Ciclo Celular/genética , Proteínas de Ciclo Celular/metabolismo , Células HeLa , Infertilidade Feminina/genética , Ciclossomo-Complexo Promotor de Anáfase , Oócitos
11.
J Vis ; 23(5): 13, 2023 05 02.
Artigo em Inglês | MEDLINE | ID: mdl-37191630

RESUMO

In visual working memory (VWM) tasks, participants' performances can be improved through the use of dimension-based retro-cues, which direct internal attention to prioritize a particular dimension (e.g., color or orientation) of VWM representations even after the stimuli disappear. This phenomenon is known as the dimension-based retro-cue benefit (RCB). The present study investigates whether sustained attention is required for the dimension-based RCB by inserting interference or interruption between the retro-cue and the test array to distract attention. We tested the effects of perceptual interference or cognitive interruption on dimension-based RCB when the interference (Experiments 1 and 2 with masks) or interruption (Experiments 3 and 4 with an odd-even task) occurred concurrently with the stages for the maintenance of prioritized information (long cue-and-interference/interruption interstimulus interval, e.g., Experiments 1 and 3) or the deployment of attention (short cue-and-interference/interruption interstimulus interval, e.g., Experiments 2 and 4). Our results demonstrate that perceptual interference or cognitive interruption attenuates the dimension-based RCB. These findings suggest that sustained attention is necessary for the effective prioritization of a specific dimension of VWM representations.


Assuntos
Sinais (Psicologia) , Memória de Curto Prazo , Humanos , Percepção Visual
13.
Hum Mol Genet ; 32(14): 2326-2334, 2023 07 04.
Artigo em Inglês | MEDLINE | ID: mdl-37133443

RESUMO

Fertilization is a fundamental process of development, and the blocking mechanisms act at the zona pellucida (ZP) and plasma membrane of the egg to prevent any additional sperm from binding, permeating and fusing after fertilization. In clinical practice, some couples undergoing recurrent IVF failures that mature oocytes had abnormal fertilization for unknown reason. Ovastacin encoded by ASTL cleave the ZP protein ZP2 and play a key role in preventing polyspermy. Here, we identified bi-allelic variants in ASTL that are mainly characterized by fertilization problems in humans. All four independent affected individuals had bi-allelic frameshift variants or predicted damaging missense variants, which follow a Mendelian recessive inheritance pattern. The frameshift variants significantly decreased the quantity of ASTL protein in vitro. And all missense variants affected the enzymatic activity that cleaves ZP2 in mouse egg in vitro. Three knock-in female mice (corresponding to three missense variants in patients) all show subfertility due to low embryo developmental potential. This work presents strong evidence that pathogenic variants in ASTL cause female infertility and provides a new genetic marker for the diagnosis of fertilization problems.


Assuntos
Infertilidade Feminina , Sêmen , Humanos , Masculino , Feminino , Camundongos , Animais , Glicoproteínas da Zona Pelúcida/genética , Glicoproteínas da Zona Pelúcida/metabolismo , Sêmen/metabolismo , Oócitos/metabolismo , Infertilidade Feminina/genética , Fertilização/genética , Metaloproteases/genética
14.
Chem Commun (Camb) ; 59(46): 7036-7039, 2023 Jun 06.
Artigo em Inglês | MEDLINE | ID: mdl-37204427

RESUMO

γCbPhAP, a D-A dyad with γ-carboline as the D unit and 3-phenylacenaphtho[1,2-b]pyrazine-8,9-dicarbonitrile as the A moiety and phosphorescence core, was designed and synthesized. The doping system of 1 wt% γCbPhAP in PMMA shows red ambient phosphorescence-dominated afterglow with long lifetime of 0.5 s and decent efficiency over 12%.

15.
Development ; 150(12)2023 06 15.
Artigo em Inglês | MEDLINE | ID: mdl-37218508

RESUMO

The accumulation and storage of maternal mRNA is crucial for oocyte maturation and embryonic development. PATL2 is an oocyte-specific RNA-binding protein, and previous studies have confirmed that PATL2 mutation in humans and knockout mice cause oocyte maturation arrest or embryonic development arrest, respectively. However, the physiological function of PATL2 in the process of oocyte maturation and embryonic development is largely unknown. Here, we report that PATL2 is highly expressed in growing oocytes and couples with EIF4E and CPEB1 to regulate maternal mRNA expression in immature oocytes. The germinal vesicle oocytes from Patl2-/- mice exhibit decreasing maternal mRNA expression and reduced levels of protein synthesis. We further confirmed that PATL2 phosphorylation occurs in the oocyte maturation process and identified the S279 phosphorylation site using phosphoproteomics. We found that the S279D mutation decreased the protein level of PATL2 and led to subfertility in Palt2S279D knock-in mice. Our work reveals the previously unrecognized role of PATL2 in regulating the maternal transcriptome and shows that phosphorylation of PATL2 leads to the regulation of PATL2 protein levels via ubiquitin-mediated proteasomal degradation in oocytes.


Assuntos
Fator de Iniciação 4E em Eucariotos , Proteínas Nucleares , RNA Mensageiro Estocado , Proteínas de Ligação a RNA , Animais , Feminino , Humanos , Camundongos , Gravidez , Fator de Iniciação 4E em Eucariotos/metabolismo , Homeostase , Camundongos Knockout , Fatores de Poliadenilação e Clivagem de mRNA/metabolismo , Proteínas Nucleares/metabolismo , Oócitos/metabolismo , RNA Mensageiro/metabolismo , RNA Mensageiro Estocado/metabolismo , Proteínas de Ligação a RNA/metabolismo , Fatores de Transcrição/metabolismo
16.
Clin Genet ; 104(4): 461-465, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37211617

RESUMO

Normal oocyte maturation is an important requirement for the success of human reproduction, and defects in this process will lead to female infertility and repeated IVF/ICSI failures. In order to identify genetic factors that are responsible for oocyte maturation defect, we used whole exome sequencing in the affected individual with oocyte maturation defect from a consanguineous family and identified a homozygous variant c.853_861del (p.285_287del) in ZFP36L2. ZFP36L2 is a RNA-binding protein, which regulates maternal mRNA decay and oocyte maturation. In vitro studies showed that the variant caused decreased protein levels of ZFP36L2 in oocytes due to mRNA instability and might lead to the loss of its function to degrade maternal mRNAs. Previous study showed that the pathogenic variants in ZFP36L2 were associated with early embryonic arrest. In contrast, we identified a novel ZFP36L2 variant in the affected individual with oocyte maturation defect, which further broadened the mutational and phenotypic spectrum of ZFP36L2, suggesting that ZFP36L2 might be a genetic diagnostic marker for the affected individuals with oocyte maturation defect.


Assuntos
Infertilidade Feminina , Feminino , Humanos , Infertilidade Feminina/genética , Infertilidade Feminina/patologia , Oócitos/metabolismo , Oogênese/genética , Mutação , Homozigoto , Fatores de Transcrição/genética
17.
Crit Rev Food Sci Nutr ; : 1-22, 2023 Apr 03.
Artigo em Inglês | MEDLINE | ID: mdl-37009832

RESUMO

Matcha, a powder processed from tea leaves, has a unique green tea flavor and appealing color, in addition to many other sought after functional properties for a wide range of formulated food applications (e.g., dairy products, bakery products, and beverage). The properties of matcha are influenced by cultivation method and processing post-harvest. The transition from drinking tea infusion to eating whole leaves provides a healthy option for the delivery of functional component and tea phenolics in various food matrix. The aim of this review is to describe the physico-chemical properties of matcha, the specific requirements for tea cultivation and industrial processing. The quality of matcha mainly depends on the quality of fresh tea leaves, which is affected by preharvest factors including tea cultivar, shading treatment, and fertilization. Shading is the key measure to increase greenness, reduce bitterness and astringency, and enhance umami taste of matcha. The potential health benefits of matcha and the gastrointestinal fate of main phenolics in matcha are covered. The chemical compositions and bioactivities of fiber-bound phenolics in matcha and other plant materials are discussed. The fiber-bound phenolics are considered promising components which endow matcha with boosted bioavailability of phenolics and health benefits through modulating gut microbiota.

18.
Hum Genet ; 142(6): 735-748, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-36995441

RESUMO

Asthenozoospermia is one of the main factors leading to male infertility, but the genetic mechanisms have not been fully elucidated. Variants in the androglobin (ADGB) gene were identified in an infertile male characterized by asthenozoospermia. The variants disrupted the binding of ADGB to calmodulin. Adgb-/- male mice were infertile due to reduced sperm concentration (< 1 × 106 /mL) and motility. Spermatogenesis was also abnormal, with malformation of both elongating and elongated spermatids, and there was an approximately twofold increase in apoptotic cells in the cauda epididymis. These exacerbated the decline in sperm motility. It is surprising that ICSI with testicular spermatids allows fertilization and eventually develops into blastocyst. Through mass spectrometry, we identified 42 candidate proteins that are involved in sperm assembly, flagella formation, and sperm motility interacting with ADGB. In particular, CFAP69 and SPEF2 were confirmed to bind to ADGB. Collectively, our study suggests the potential important role of ADGB in human fertility, revealing its relevance to spermatogenesis and infertility. This expands our knowledge of the genetic causes of asthenozoospermia and provides a theoretical basis for using ADGB as an underlying genetic marker for infertile males.


Assuntos
Astenozoospermia , Infertilidade Masculina , Animais , Humanos , Masculino , Camundongos , Astenozoospermia/genética , Infertilidade Masculina/genética , Infertilidade Masculina/metabolismo , Sêmen/metabolismo , Motilidade dos Espermatozoides/genética , Espermatozoides/metabolismo
19.
Plant Dis ; 107(8): 2335-2345, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-36627805

RESUMO

Temperature and humidity play an important role in plant-pathogen interactions. However, regulating the temperature and humidity specifically to inhibit the development of plant diseases remains unclear. In this study, we explored the influence of intermittent temperature and humidity variation on tomato gray mold. Intermittent regulation of temperature and humidity (increasing temperature with decreasing humidity for different periods within 24 h) inhibited the disease severity of plants and the infection process of Botrytis cinerea. The 4-h treatment (increasing temperature accompanied by decreasing humidity for 4 h and recovering for 4 h, and so on) effectively inhibited the development of tomato gray mold, reduced the biomass of B. cinerea, delayed the differentiation time of mycelia, and inhibited the accumulation of hydrogen peroxide in tomato leaves at the later stage of infection. The increased expressions of heat-shock protein (HSP) genes HSP20, HSP70, HSP90, BAG6, and BAG7 in tomato were mainly caused by environmental changes and environment-plant-pathogen interactions, and the increased expression of the latter was greater than that of the former in the 2-h (increasing temperature accompanied by decreasing humidity for 2 h and recovering for 2 h, and so on) and 4-h treatments. Pathogen infection induced the expression of defense-related genes in tomato, and the increase in the expressions of FLS2, FEI1, PI2, Pti5, and WRKY75 induced by B. cinerea in the 4-h treatment was greater than that under unregulated temperature and humidity conditions. In general, intermittent temperature and humidity variation can effectively inhibit the development of tomato gray mold, and the 4-h treatment had the best inhibitory effect.


Assuntos
Solanum lycopersicum , Umidade , Solanum lycopersicum/genética , Temperatura , Fungos
20.
Clin Genet ; 103(3): 352-357, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36373164

RESUMO

Ovarian dysfunction, including premature ovarian insufficiency and decreased ovarian reserve, affects the ovarian reserve and is one of the leading causes of female infertility. More and more cases of ovarian dysfunction are associated with genetic factors. Here, we identified eight potential variants in five genes (MSH4, HFM1, SYCE1, FSHR, and C14orf39) from six independent families by exome sequencing. The splice-site variants in SYCE1 and MSH4 affected canonical splicing isoforms, leading to missing protein domains or premature termination. Our findings expand the mutational spectrum of ovarian dysfunction and provide potential biomarkers for future genetic counseling and for more personalized treatments. Exome sequencing was shown to be a useful tool to better dissect the genetic basis for ovarian dysfunction and yielded a genetic diagnosis in about 5.0% (6/124) of cases in a cohort of 124 patients with ovarian dysfunction.


Assuntos
Menopausa Precoce , Insuficiência Ovariana Primária , Humanos , Feminino , Insuficiência Ovariana Primária/diagnóstico , Insuficiência Ovariana Primária/genética , Menopausa Precoce/genética , Mutação , Testes Genéticos
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA