36. Identification and characterization of complete and partial MEF2C gene deletions in 3 individuals with developmental delay by whole genome microarray analysis

The MEF2 polypeptide C (MEF2C), a transcription factor, encodes for a protein that plays a key role in myogenesis, craniofacial development, and neurogenesis. In 2010, microarray studies identified a microdeletion of 5q14.3 region (critical region including the MEF2C gene) to be contributing to a phenotype including intellectual disability, epilepsy and other cerebral malformations. Both truncating single nucleotide variations and deletions of this gene demonstrate haploinsuffciency. Clinically, MEF2C-related disorders are characterized by severe intellectual disability with absent speech, autism, limited walking abilities, hypotonia, seizures, and a variety of minor brain anomalies as well as dysmorphic features.
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Source Type: research

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CONCLUSION: With the increased use of immunotherapeutic agents, increased awareness and early recognition are required for effective management of irAEs. Our experience as a single institution might be of use for health care providers in oncology. PMID: 32935638 [PubMed - as supplied by publisher]
Source: Tumori - Category: Cancer & Oncology Tags: Tumori Source Type: research
Authors: Wan S, Zhao H Abstract The present study aimed to explore the diagnostic and prognostic value of lncRNA maternally expressed 3 (MEG3) in cervical cancer. Eighty-four patients with cervical cancer from February 2013 to March 2014 were enrolled in the observation group (OG), and another 58 female subjects who underwent physical examination at Huangshi Central Hospital were enrolled as the control group (CG). The serum MEG3 expression of patients in the two groups was detected by RT-qPCR, and the ability of MEG3 to aid in the diagnosis of cervical cancer, lymph node metastasis and FIGO staging, as well as to ...
Source: Oncology Letters - Category: Cancer & Oncology Tags: Oncol Lett Source Type: research
In conclusion, SLC17A9 can be used as a new molecular marker to predict the poor prognosis of patients with HCC. PMID: 32934749 [PubMed]
Source: Oncology Letters - Category: Cancer & Oncology Tags: Oncol Lett Source Type: research
In conclusion, the present study revealed that linalool inhibits T-ALL cell survival with involvement of the MAPK signaling pathway. JNK activation and ERK inhibition may play a functional role in apoptosis induction of T-ALL cells. Linalool may be developed as a novel anti T-ALL agent. PMID: 32934748 [PubMed]
Source: Oncology Letters - Category: Cancer & Oncology Tags: Oncol Lett Source Type: research
In conclusion, psychological stress was more prominent in younger patients with stage IV breast cancer treated with hormonal therapy compared with elderly patients. Importantly, improving QOL within the 3 months after treatment initiation could lead to longer PFS rate. PMID: 32934747 [PubMed]
Source: Oncology Letters - Category: Cancer & Oncology Tags: Oncol Lett Source Type: research
Authors: Verma A, Najahi-Missaoui W, Cummings BS, Somanath PR Abstract Metastatic prostate cancer (PCa) has a very high mortality rate in men, in Western countries and lacks reliable treatment. The advanced-stage PCa cells overexpress P21 (RAC1) activated kinase-1 (PAK1) and secreted phospholipase A2 (sPLA2) suggesting the potential utility of pharmacologically targeting these molecules to treat metastatic PCa. The small molecule, inhibitor targeting PAK1 activation-3 (IPA3) is a highly specific allosteric inhibitor of PAK1; however, it is metabolically unstable once in the plasma thus, limiting its utility as a ch...
Source: Oncology Letters - Category: Cancer & Oncology Tags: Oncol Lett Source Type: research
In conclusion, high expression levels of eIF4A2 are associated with a poor prognosis and may be used as a potential prognostic indicator in patients with ESCC. PMID: 32934744 [PubMed]
Source: Oncology Letters - Category: Cancer & Oncology Tags: Oncol Lett Source Type: research
Authors: Li DK, Wang W Abstract Cluster of differentiation 40 (CD40) mediates many immune activities. Preclinical studies have shown that activation of CD40 can evoke massive antineoplastic effects in several tumour models in vivo, providing a rationale for using CD40 agonists in cancer immunotherapy. To date, several potential agonistic antibodies that target CD40 have been investigated in clinical trials. Early clinical trials have shown that the adverse events associated with agonists of CD40 thus far have been largely transient and clinically controllable, including storms of cytokine release, hepatotoxicity an...
Source: Oncology Letters - Category: Cancer & Oncology Tags: Oncol Lett Source Type: research
Authors: Yang N, Li C, Han X, Feng Z, Qiu F, Han J Abstract Associations of metastasis-associated protein 1 (MTA1) expression with computed tomography (CT) features, pathology and prognosis of elderly patients with non-small cell lung cancer (NSCLC), and its clinical significance were explored. A total of 98 elderly patients with NSCLC were selected and underwent CT examination. The expression of MTA1 in carcinoma tissues and para-carcinoma normal tissues was detected via immunohistochemistry, and its associations with CT features, pathology and prognosis were analyzed. The results manifested that the expression of...
Source: Oncology Letters - Category: Cancer & Oncology Tags: Oncol Lett Source Type: research
Authors: Chen F, Zhu L, Hu J, Jiang S, Liu H, Zheng J, Wang J, Wang F, Li Z Abstract Triple-negative breast cancer (TNBC) has the poorest prognosis among all types of breast cancer and there is yet no effective therapy. Chemotherapy is the traditional standard of care for patients with TNBC; however, treatment of TNBC with chemotherapy may lead to the enrichment of cancer stem cells (CSCs), which exhibitan enhanced capacity for self-renewal, tumor initiation and metastasis. The present study demonstrated that bufalin, a small molecular compound used in traditional Chinese medicine, exerted anticancer effects on a w...
Source: Oncology Letters - Category: Cancer & Oncology Tags: Oncol Lett Source Type: research
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