Embryonic lethality
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Molecular autopsy refers to DNA-based identification of the cause of death. Despite recent attempts to broaden its scope, the term remains typically reserved to sudden unexplained death in young adults. In this study, we aim to showcase the utility of molecular autopsy in defining lethal variants in humans.
11p vibransone 28-03-2024 3 2 Download
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Neural tube defects (NTDs) are the second most common birth defect in humans. Dietary folic acid (FA) supplementation effectively and safely reduces the incidence of these often debilitating congenital anomalies. FA plays an established role in folate and homocysteine metabolism, but the means by which it suppresses occurrence of NTDs is not understood.
9p vinarcissa 21-03-2023 3 1 Download
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Lethal recessive variation can cause prenatal death of homozygous offspring. Although usually present at low-frequency in populations, the impact on individual fitness can be substantial. Until recently, the presence of recessive embryonic lethal variation could only be measured indirectly through reduced fertility. In this study, we estimate the presence of genetic loci associated with both early and late termination of development during gestation in pigs from the wealth of genome data routinely generated by a commercial breeding company.
12p vilarryellison 29-10-2021 7 1 Download
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Cytoplasmic incompatibility (CI) is the most common phenotype induced by endosymbiont Wolbachia and results in embryonic lethality when Wolbachia-modified sperm fertilize eggs without Wolbachia. However, eggs carrying the same strain of Wolbachia can rescue this embryonic death, thus producing viable Wolbachia-infected offspring. Hence Wolbachia can be transmitted mainly by hosts’ eggs.
14p visilicon2711 20-08-2021 10 1 Download
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Because ribosomes are ubiquitously required for protein production, it was long assumed that any inherited defect in ribosome manufacture would be embryonically lethal. However, several human congenital diseases have been found to be associated with mutations in ribosome biogenesis factors.
13p viwyoming2711 16-12-2020 15 1 Download
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Outside these junctions, p120ctn is actively involved in the regulation of small GTPases of the Rho family, in actomyosin dynamics and in transcription regulation. We and others reported that loss of p120ctn in mouse embryos results in an embryonic lethal phenotype, but the exact developmental role of p120ctn during brain formation has not been reported.
18p viwyoming2711 16-12-2020 11 1 Download
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The present study investigated the effect of gamma irradiation and NaCl treatment on the embryonic calli of indica rice variety Kuliyadichan and CO43. Embryonic calli obtained from both the varieties were exposed to gamma irradiation (0, 20, 30, 40 and 50 Gy) and lethal dose LD50 based on calli survival and regeneration capacity was determined.
13p trinhthamhodang1216 19-11-2020 10 1 Download
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Cdx-2 is a transactivator for the proglucagon gene in pancreatic and intes-tinal endocrine cells. Cdx-2 is also expressed in differentiated intestinal epi-thelia of nonendocrine origin. Cdx-2 –⁄ – mice are embryonic lethal, while Cdx-2 +⁄ – mutants show multiple malfunctions including the formation of intestinal polyps.
14p awards 06-04-2013 47 3 Download
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The lipolysis stimulated receptor (LSR) recognizes apo-lipoprotein B/E-containing lipoproteins in the presence of free fattyacids, and is thought tobe involved in the clearance of triglyceride-rich lipoproteins (TRL). The distribution of LSR in mice was studied by Northern blots, quantitative PCR and immunofluorescence. In the adult,LSRmRNA was detectable in all tissues tested except muscle and heart, and was abundant in liver, lung, intestine, kidney, ovaries and testes. During embryogenesis, LSR mRNA was detectable at 7.
12p awards 05-04-2013 42 3 Download
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Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Wertheim cung cấp cho các bạn kiến thức về ngành y đề tài: Synthetic lethal analysis of Caenorhabditis elegans posterior embryonic patterning genes identifies conserved genetic interactions...
8p thulanh19 09-11-2011 35 1 Download