Results 261 to 270 of about 234,487 (302)
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Reproductive BioMedicine Online, 2012
The aim of this study was to develop and perform a preimplantation genetic diagnosis (PGD) assay discriminating between wild-type and mutant alleles in two families with germline mosaicism. Family 1 had two children affected with severe myoclonic epilepsy (SCNA1A del exons 1-22).
Gheona, Altarescu +6 more
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The aim of this study was to develop and perform a preimplantation genetic diagnosis (PGD) assay discriminating between wild-type and mutant alleles in two families with germline mosaicism. Family 1 had two children affected with severe myoclonic epilepsy (SCNA1A del exons 1-22).
Gheona, Altarescu +6 more
openaire +2 more sources
Germline Epimutation in Humans
Pharmacogenomics, 2008Epigenetic modifications provide all multicellular organisms with a system of gene regulation that allows clonally heritable yet reversible alterations in gene transcription. Errors in this complex system can give rise to abnormal gene silencing, termed 'epimutation'; importantly, this can occur in the absence of any underlying genetic defect ...
Jennifer E, Cropley +2 more
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Epigenetic germline inheritance
Current Opinion in Genetics & Development, 2004Our increased knowledge of epigenetic reprogramming supports the idea that epigenetic marks are not always completely cleared between generations. Incomplete erasure at genes associated with a measurable phenotype can result in unusual patterns of inheritance from one generation to the next.
Chong, SY, Whitelaw, E
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2013
Stem cells support tissue maintenance by balancing self-renewal and differentiation. Germline stem cells (GSCs) belong to a kind of stem cells that are crucial to development and tissue homeostasis with their ability to both differentiate into gametes and maintain an undifferentiated state by their self-renewal property.
Ji, Wu, Huacheng, Luo, Hu, Wang
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Stem cells support tissue maintenance by balancing self-renewal and differentiation. Germline stem cells (GSCs) belong to a kind of stem cells that are crucial to development and tissue homeostasis with their ability to both differentiate into gametes and maintain an undifferentiated state by their self-renewal property.
Ji, Wu, Huacheng, Luo, Hu, Wang
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An Introduction to Male Germline Development
2017In this introductory chapter, we describe male germline development in plants taking Arabidopsis thaliana as a reference species. We first describe the transition from sporophytic to germline development, then microsporogenesis including meiosis, followed by male gametophyte development prior to pollination, and finally the progamic phase culminating ...
Vogler, Hannes +2 more
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Germline Transgenesis in Ciona
2018Transgenesis is an indispensable method for elucidating the cellular and molecular mechanisms underlying biological phenomena. In Ciona, transgenic lines that have a transgene insertion in their genomes have been created. The transgenic lines are valuable because they express reporter genes in a nonmosaic manner.
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Modern developments in germline pharmacogenomics for oncology prescribing
Ca-A Cancer Journal for Clinicians, 2022Natalie Reizine, Peter H O'Donnell
exaly
2006
Abstract The issue of germline mosaicism has generated a great deal of uncertainty in the provision of genetic risks over the past 10–15 years. Previously, this was not perceived to be a major concern. Rare reports of siblings with conditions such as campomelic dysplasia, severe osteogenesis imperfecta, and pseudoachondroplasia, born to ...
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Abstract The issue of germline mosaicism has generated a great deal of uncertainty in the provision of genetic risks over the past 10–15 years. Previously, this was not perceived to be a major concern. Rare reports of siblings with conditions such as campomelic dysplasia, severe osteogenesis imperfecta, and pseudoachondroplasia, born to ...
openaire +1 more source
Germline genetic contribution to the immune landscape of cancer
Immunity, 2021Mohamad Saad, Francesco Marincola
exaly