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  • Frontiers Media SA  (8)
  • 1
    In: Frontiers in Endocrinology, Frontiers Media SA, Vol. 14 ( 2023-8-9)
    Abstract: Neurodevelopmental disorders (NDDs) are a class of disorders affecting brain development and function, characterized by an inability to reach cognitive, emotional, and motor developmental milestones. The pathology of NDDs is complex. A recent study found that variants in the SRRM2 gene cause NDDs. However, genetic conditions play the most important role in the etiology of NDD. The genetic causes of NDD are extremely heterogeneous, leading to certain challenges in clinical diagnosis. Methods A pregnant woman with congenital intelligence disorder came to our hospital for genetic diagnosis to predict the status of her fetus. Her mother and a brother also suffer from congenital intelligence disorder. She has a daughter with speech delay. Whole exome sequencing was used to identify a mutation (c.1415C & gt;G) in the SRRM2 gene of this family that resulted in a change in the 472nd amino acid residue of the SRRM2 protein from serine to terminated. Conclusion We report a family with an autosomal dominant genetic disorder caused by variants in the SRRM2 gene causing NDDs. Prenatal diagnosis can help patients with this genetic disorder to have healthy offspring.
    Type of Medium: Online Resource
    ISSN: 1664-2392
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2023
    detail.hit.zdb_id: 2592084-4
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  • 2
    In: Frontiers in Genetics, Frontiers Media SA, Vol. 12 ( 2022-1-18)
    Abstract: Background: Fetal congenital heart disease (CHD) is the most common congenital defect, with an incidence of 0.6–0.8%, accounting for 30–50% of infant congenital disease deaths. The pathogenesis of CHD is still unclear, so an active and effective prenatal diagnosis is very important for the prevention and control of CHD. Herein, a Chinese CHD patient with rare compound heterozygous mutations in the DNAH9 gene was reported, and the 3D structure and functional changes of DNAH9 protein were predicted. Case presentation: A 23-year-old pregnant woman came to our hospital for prenatal diagnosis at 27 weeks of gestation. Both she and her partner were unaffected. Fetal CHD was detected by ultrasound screening. Copy number variation sequencing (CNV-seq) revealed an 81 kb deletion at chr17p12 (11,486,795–11,568,385), including exons 1–15 of DNAH9 gene, which plays a key role in cardiac development. Then, whole exome sequencing (WES) was used and identified a nonsense mutation (c.10975C & gt;T) in DNAH9 , which resulted in the mutation of amino acid 3,659 from glutamine to termination. The 3D mutant protein structures were predicted using SWISS-MODEL and showed structural changes from functional β-sheet and α-helix to termination, respectively. Conclusion: We describe a case of fetal CHD caused by DNAH9 mutations and provide an effective diagnostic technique for identifying intragenic deletions. This diagnostic process can be implicated in prenatal diagnosis of CHD.
    Type of Medium: Online Resource
    ISSN: 1664-8021
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2022
    detail.hit.zdb_id: 2606823-0
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  • 3
    Online Resource
    Online Resource
    Frontiers Media SA ; 2023
    In:  Frontiers in Bioengineering and Biotechnology Vol. 11 ( 2023-4-4)
    In: Frontiers in Bioengineering and Biotechnology, Frontiers Media SA, Vol. 11 ( 2023-4-4)
    Abstract: Ovarian cancer stands as the fifth most prevalent cancer among women, causing more mortalities than any other disease of the female reproductive system. There are numerous histological subtypes of ovarian cancer, each of which has distinct clinical characteristics, risk factors, cell origins, molecular compositions, and therapeutic options. Typically, it is identified at a late stage, and there is no efficient screening method. Standard therapies for newly diagnosed cancer are cytoreductive surgery and platinum-based chemotherapy. The difficulties of traditional therapeutic procedures encourage researchers to search for other approaches, such as nanotechnology. Due to the unique characteristics of matter at the nanoscale, nanomedicine has emerged as a potent tool for creating novel drug carriers that are more effective and have fewer adverse effects than traditional treatments. Nanocarriers including liposomes, dendrimers, polymer nanoparticles, and polymer micelles have unique properties in surface chemistry, morphology, and mechanism of action that can distinguish between malignant and normal cells, paving the way for targeted drug delivery. In contrast to their non-functionalized counterparts, the development of functionalized nano-formulations with specific ligands permits selective targeting of ovarian cancers and ultimately increases the therapeutic potential. This review focuses on the application of various nanomaterials to the treatment and diagnosis of ovarian cancer, their advantages over conventional treatment methods, and the effective role of controlled drug delivery systems in the therapy of ovarian cancer.
    Type of Medium: Online Resource
    ISSN: 2296-4185
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2023
    detail.hit.zdb_id: 2719493-0
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  • 4
    In: Frontiers in Endocrinology, Frontiers Media SA, Vol. 12 ( 2021-10-20)
    Abstract: PCOS has a wide range of negative impacts on women’s health and is one of the most frequent reproductive systemic endocrine disorders. PCOS has complex characteristics and symptom heterogeneity due to the several pathways that are involved in the infection and the absence of a comm14on cause. A recent study has shown that the main etiology and endocrine aspects of PCOS are the increased level of androgen, which is also known as “hyperandrogenemia (HA)” and secondly the “insulin resistance (IR)”. The major underlying cause of the polycystic ovary is these two IR and HA, by initiating the disease and its severity or duration. As a consequence, study on Pathogenesis is crucial to understand the effect of “HA” and “IR” on the pathophysiology of numerous symptoms linked to PCOS. A deep understanding of the pattern of the growth in PCOS for HA and IR can help ameliorate the condition, along with adjustments in nutrition and life, as well as the discovery of new medicinal products. However, further research is required to clarify the mutual role of IR and HA on PCOS development.
    Type of Medium: Online Resource
    ISSN: 1664-2392
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2021
    detail.hit.zdb_id: 2592084-4
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  • 5
    Online Resource
    Online Resource
    Frontiers Media SA ; 2021
    In:  Frontiers in Oncology Vol. 11 ( 2021-6-3)
    In: Frontiers in Oncology, Frontiers Media SA, Vol. 11 ( 2021-6-3)
    Abstract: Prostate cancer (PCa) is a common aggressive disease worldwide which usually progresses into incurable castration-resistant prostate cancer (CRPC) in most cases after 18–24 months treatment. Androgen receptor (AR) has been considered as a crucial factor involved in CRPC and the study of AR as a potential therapeutic target in CRPC may be helpful in disease control and life-cycle management. In this study, we identified a potent small molecule compound, HG122, that suppressed CRPC cells proliferation and metastasis, and inhibited tumor growth both in subcutaneous and orthotopic tumor model. In addition, HG122 reduced the mRNA expression of PSA and TMPRSS2 which are target genes of AR, resulting in cell growth inhibition and metastasis suppression of CRPC, without affecting the expression of AR mRNA level. Mechanically, HG122 promoted AR protein degradation through the proteasome pathway impairing the AR signaling pathway. In conclusion, HG122 overcomes enzalutamide (ENZ) resistance in CRPC both in vitro and in vivo , thus suggesting HG122 is a potential candidate for the clinical prevention and treatment of CRPC.
    Type of Medium: Online Resource
    ISSN: 2234-943X
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2021
    detail.hit.zdb_id: 2649216-7
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  • 6
    In: Frontiers in Oncology, Frontiers Media SA, Vol. 12 ( 2022-10-10)
    Abstract: Cervical cancer is one of the women-associated tumors that affects numerous people yearly. It is the fourth most common malignancy in women worldwide. Following early diagnosis, this cancer can be cured mainly by traditional methods such as surgery, tumor resection, and chemotherapy; nonetheless, it becomes more challenging to treat in advanced and metastatic stages. With the advent of novel treatments such as angiogenesis inhibitors or immuno-checkpoint blockers in recent years, the survival rate of patients with advanced cervical cancer has significantly increased. However, it has not yet reached a satisfactory level. It has been revealed that human papillomavirus (HPV) infection is responsible for more than 90% of cervical cancer cases. However, evidence revealed that monotherapy with anti-HPV vaccines such as ISA101 could not affect tumor growth and progression in patients with HPV-induced cervical cancer. Therefore, combining ISA101 and immune checkpoint blockers or other immunotherapeutic approaches may be more robust and effective than monotherapy with ISA101 or immune checkpoint blockers for treating cervical cancer. This review summarizes the ISA101 properties, advantages and disadvantages. Furthermore, various conducted combination therapies with ISA101 and the effectiveness and challenges of this treatment have been discussed.
    Type of Medium: Online Resource
    ISSN: 2234-943X
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2022
    detail.hit.zdb_id: 2649216-7
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  • 7
    In: Frontiers in Pharmacology, Frontiers Media SA, Vol. 12 ( 2021-7-19)
    Abstract: Exendin-4 (Ex4), a long-lasting glucagon-like peptide-1 analog, was reported to exert favourable actions on inhibiting cocaine-associated rewarding and reinforcing effects of drug in animal models of addiction. However, the therapeutic potential of different dose of GLP-1 receptor agonist Ex4 in different behavioral paradigms and the underlying pharmacological mechanisms of action are incompletely understood. Herein, we firstly investigated the effects of Ex4 on cocaine-induced condition place preference (CPP) as well as extinction and reinstatement in male C57BL/6J mice. Additionally, we sought to elucidate the underlying pharmacological mechanism of these actions of Ex4. The paradigm of cocaine-induced CPP was established using 20 mg/kg cocaine or saline alternately during conditioning, while the reinstatement paradigm was modeled using 10 mg/kg cocaine on the reinstatement day. Different dose of Ex4 was administrated intraperitoneally either during conditioning or during extinction state or only on the test day. To elucidate the molecular mechanism underlying the potential effects of Ex4 on maladaptive behaviors of cocaine, the TLR4-related inflammation within the hippocampus was observed by immunofluorescence staining, and the expression levels of toll-like receptor 4 (TLR4), tumor necrosis factor (TNF)-α, and interleukin (IL)-1β were detected by Western blotting. As a consequence, systemic administration of different dose of Ex4 was sufficient to inhibit the acquisition and expression of cocaine-induced CPP, facilitate the extinction of cocaine-associated reward and attenuate reinstatement of cocaine-induced behavior. Furthermore, Ex4 treatment diminished expression levels of TLR4, TNF-α, and IL-1β, which were up-regulated by cocaine exposure. Altogether, our results indicated that Ex4 effectively ameliorated cocaine-induced behaviors likely through neurobiological mechanisms partly attributable to the inhibition of TLR4, TNF-α and IL-1β in mice. Consequently, our findings improved our understanding of the efficacy of Ex4 for the amelioration of cocaine-induced behavior and suggested that Ex4 may be applied as a drug candidate for cocaine addiction.
    Type of Medium: Online Resource
    ISSN: 1663-9812
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2021
    detail.hit.zdb_id: 2587355-6
    SSG: 15,3
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  • 8
    In: Frontiers in Pharmacology, Frontiers Media SA, Vol. 11 ( 2020-5-19)
    Type of Medium: Online Resource
    ISSN: 1663-9812
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2020
    detail.hit.zdb_id: 2587355-6
    SSG: 15,3
    Location Call Number Limitation Availability
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