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Maternal factors increase risk of orofacial cleft: a meta-analysis.
Sci Rep
November 2024
Centre for Translational Medicine, Semmelweis University, Budapest, Hungary.
Orofacial clefts are among the most prevalent birth defects, with severe medical and psychosocial consequences. Cleft lip with or without cleft palate (CL ± P) and cleft palate only (CPO) affect on average nearly 1/700 births worldwide. The cause of most non-syndromic cases is unknown.
View Article and Find Full Text PDFCharting Peptide Shared Sequences Between 'Diabetes-Viruses' and Human Pancreatic Proteins, Their Structural and Autoimmune Implications.
Bioinform Biol Insights
November 2024
Department of Community Medicine, College of Medicine, Kaduna State University, Kaduna, Nigeria.
Diabetes mellitus (DM) is a metabolic syndrome characterized by hyperglycaemia, polydipsia, polyuria, and weight loss, among others. The pathophysiology for the disorders is complex and results in pancreatic abnormal function. Viruses have also been implicated in the metabolic syndrome.
View Article and Find Full Text PDFDYNC2H1 splicing variants causing severe prenatal short-rib polydactyly syndrome and postnatal orofaciodigital syndrome.
Ann Hum Genet
January 2025
Genetics Service, São João Universitary Hospital Center, Porto, Portugal.
Article Synopsis
- The DYNC2H1 gene is linked to short-rib polydactyly syndrome (SRPS) and other skeletal ciliopathies, with two unique cases highlighting distinct phenotypes caused by splicing variants.
- The first case involved a 14-week-old fetus with severe malformations and two compound heterozygous variants that were initially uncertain but later deemed likely pathogenic after further testing.
- The second case presented an 11-year-old boy with various physical abnormalities and identified variants in DYNC2H1, underscoring the gene's role in conditions like SRPS and orofaciodigital syndrome, enhancing understanding of splicing variants' impacts.
Effects of selective serotonin reuptake inhibitors on endocrine system (Review).
Biomed Rep
September 2024
Department of Biotechnology, Faculty of Chemistry, Universidad Autónoma de Coahuila, Saltillo Coahuila 25280, México.
Selective serotonin reuptake inhibitors (SSRIs) are typically prescribed for treating major depressive disorder (MDD) due to their high efficacy. These drugs function by inhibiting the reuptake of serotonin [also termed 5-hydroxytryptamine (5-HT)], which raises the levels of 5-HT in the synaptic cleft, leading to prolonged activation of postsynaptic 5-HT receptors. Despite the therapeutic benefits of SSRIs, this mechanism of action also disturbs the neuroendocrine response.
View Article and Find Full Text PDFTGFβ2 Promotes the Construction of Fibrotic and Immunosuppressive Tumor Microenvironment in Pancreatic Adenocarcinoma: A Comprehensive Analysis.
Mol Biotechnol
July 2024
Department of Plastic and Burns Surgery, The Second Affiliated Hospital of Shantou University Medical College, Shantou, China.
Pancreatic adenocarcinoma (PAAD) was characterized by dense fibrotic stroma and immunosuppressive tumor microenvironment (TME). TGFβ signaling pathways are highly activated in human cancers. However, the role of TGFβ2 in TME of PAAD remains to be elucidated.
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