American Journal of Medical Genetics Part A
- Cover Image, Volume 179A, Number 11, November 2019Cover Image © Andrey Prokhorov/iStockphoto.
G3: .Genes, Genomes, Genetics Mission - Online First Articles
- Loss of rps9 in Zebrafish Leads to p53-Dependent AnemiaRibosome is a vital molecular machine for protein translation in the cell. Defects in several ribosomal proteins including PRS19, RPL11 and RPS14 have been observed in two types of anemia: Diamond Blackfan Anemia and 5q- syndrome. In zebrafish, deficiency of these ribosomal proteins shows similar anemia phenotype. It remains to be determined if any other ribosome proteins are similarly involved in regulating erythropoiesis. Here we generated muta
- An Atlas of Transcription Factors Expressed in Male Pupal Terminalia of Drosophila melanogasterDuring development, transcription factors and signaling molecules govern gene regulatory networks to direct the formation of unique morphologies. As changes in gene regulatory networks are often implicated in morphological evolution, mapping transcription factor landscapes is important, especially in tissues that undergo rapid evolutionary change. The terminalia (genital and anal structures) of Drosophila melanogaster and its close relatives exhi
- Transcriptome Characterization of Reverse Development in Turritopsis dohrnii (Hydrozoa, Cnidaria)Medusae of Turritopsis dohrnii undergo reverse development in response to physical damage, adverse environmental conditions, or aging. Senescent, weakened or damaged medusae transform into a cluster of poorly differentiated cells (known as the cyst stage), which metamorphose back into a preceding life cycle stage, the polyp. During the metamorphosis, cell transdifferentiation occurs. The cyst represents the intermediate stage between a reverting
Human Genetics
- Legacy samples in Finnish biobanks: social and legal issues related to the transfer of old sample collections into biobanksAbstract Biobank operations started officially in Finland in 2013 when the Biobank Act defining and regulating biobank operations came into force. Since then, ten biobanks have been established and they have started to collect new prospective samples with broad consent. The main corpus of biobank samples, however, consists of approximately 10 million “legacy samples”. These are old diagnostic or research samples that were trans
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