In offspring production, with whom are the maternally derived (madumnal), paternally derived (padumnal), and maternal genes in conflict? I developed a model, in which those genes independently regulate resource absorption of developing offspring, and offspring with a high realized resource absorption rate may become large, but may suffer abortion due to overgrowth. I analyzed two cases: maternal control is weak (maternal genes cannot completely inhibit the resource demand by the madumnal or the padumnal genes) and is strong (maternal genes can completely inhibit it). I found that, under weak maternal control, the maternal genes inhibit resource absorption, but the madumnal and padumnal genes enhance it if the abortion cost of overgrowth is low. The maternal and madumnal genes inhibit resource absorption, but the padumnal genes enhance it if the cost is high. Under strong maternal control, the maternal genes inhibit resource absorption, but the madumnal and padumnal genes enhance it irrespective of the degree of abortion cost. I also found that the effects of offspring abortion on an ESS size and number of offspring when independent are large under weak maternal control, but are moderated under strong maternal control.
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http://dx.doi.org/10.1016/j.jtbi.2010.07.001 | DOI Listing |
Hum Mol Genet
January 2025
Department of Pediatric Surgery, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, No. 1095 Jiefang Avenue, Qiaokou District, Wuhan, Hubei 430030, China.
Hirschsprung's disease (HSCR) is a congenital enteric neuropathic disorder characterized by high heritability (>80%) and polygenic inheritance (>20 genes). The previous genome-wide association studies (GWAS) identified several common variants associated with HSCR and demonstrated increased predictive performance for HSCR risk in Europeans using a genetic risk score, there remains a notable gap in knowledge regarding Chinese populations. We conducted whole exome sequencing in a HSCR case cohort in Chinese.
View Article and Find Full Text PDFBMC Musculoskelet Disord
January 2025
Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, 18 Daoshan Road, Fuzhou, 350001, China.
Background: Congenital muscular dystrophies (CMDs) and myopathies (CMYOs) are a clinically and genetically heterogeneous group of neuromuscular disorders that share common features, such as muscle weakness, hypotonia, characteristic changes on muscle biopsy and motor retardation. In this study, we recruited eleven families with early-onset neuromuscular disorders in China, aimed to clarify the underlying genetic etiology.
Methods: Essential clinical tests, such as biomedical examination, electromyography and muscle biopsy, were applied to evaluate patient phenotypes.
Sci Rep
January 2025
Department of Gynecology and Obstetrics, First Hospital of Jilin University, Changchun, 130031, Jilin, China.
Preeclampsia (PE) is a major pregnancy-specific cardiovascular complication posing latent life-threatening risks to mothers and neonates. The contribution of immune dysregulation to PE is not fully understood, highlighting the need to explore molecular markers and their relationship with immune infiltration to potentially inform therapeutic strategies. We used bioinformatics tools to analyze gene expression data from the Gene Expression Omnibus (GEO) database using the GEOquery package in R.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Emergency, the Eighth Affiliated Hospital of Sun Yat-sen University, Shenzhen, Guangdong, China.
Hepatocellular carcinoma (HCC) is a predominant cause of cancer-related mortality globally, noted for its propensity towards late-stage diagnosis and scarcity of effective treatment modalities. The process of metabolic reprogramming, with a specific emphasis on lipid metabolism, is instrumental in the progression of HCC. Nevertheless, the precise mechanisms through which lipid metabolism impacts HCC and its viability as a therapeutic target have yet to be fully elucidated.
View Article and Find Full Text PDFPediatr Nephrol
January 2025
Department of Nephrology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Center), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.
Background: Steroid-resistant nephrotic syndrome (SRNS) is insensitive to steroid therapy and overwhelmingly progresses to kidney failure (KF), the known pathogenic genes of which include key subunits of the nuclear pore complex (NPC), a less-recognized contributor to glomerular podocyte injury.
Methods: After analyzing their clinical characterizations and obtaining parental consent, whole-exome sequencing (WES) was performed on patients with SRNS. Several nucleoporin (NUP) biallelic pathogenic variants were identified and further analyzed by cDNA-PCR sequencing from white cells of peripheral blood, minigene assay, immunohistochemical (IHC) staining, and electron microscopy (EM) ultrastructure observation of kidney biopsy, as well as multiple in silico prediction tools, including 3D protein modeling.
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