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  • variants
  • Germline variants that affect the expression or function of proteins contribute to phenotypic variation in humans and likely determine individual characteristics and susceptibility to diseases including cancer. (diva-portal.org)
  • A number of high penetrance germline variants that increase cancer risk have been identified and studied, but germline functional polymorphisms are not typically considered in the context of cancer biology, where the focus is primarily on somatic mutations. (diva-portal.org)
  • Yet, there is evidence from familial cancers indicating that specific cancer subtypes tend to arise in carriers of high-risk germline variants (e.g., triple negative breast cancers in mutated BRCA carriers), which suggests that pre-existing germline variants may determine which complementary somatic driver mutations are needed to drive tumorigenesis. (diva-portal.org)
  • Germline variants in MC1R , the gene encoding the melanocortin-1 receptor, and sun exposure increase risk for melanoma in Caucasians. (sciencemag.org)
  • Although the molecular basis for the crosstalk between tumor and immune cells is an area of active investigation, whether host-specific germline variants can dictate immunosuppressive mechanisms has remained a challenge to address. (jci.org)
  • Furthermore, using knock-in transgenic mouse models for lung and breast cancers, we establish the host-specific tumor-extrinsic functions of STAT3-enhancing germline variants in impeding the tumor infiltration of CD8 T cells. (jci.org)
  • Thus, STAT3-enhancing germline receptor variants contribute to immune evasion through their pleiotropic functions in immune cells. (jci.org)
  • Germline BCL-2 sequence variants and inherited predisposition to prostate cancer. (nih.gov)
  • genome
  • Different germline mutations can affect an individual differently depending on the rest of their genome. (wikipedia.org)
  • Given this morning's reports of infants possibly born in China whose genomes were edited by CRISPR-based technology, the American Society of Human Genetics (ASHG) reaffirms the cautious but proactive approach recommended in its 2017 position statement on human germline genome editing, published in The American Journal of Human Genetics. (news-medical.net)
  • Piwi-interacting RNAs (piRNAs) have emerged as central players in transposon silencing and genome maintenance during germline development. (rupress.org)
  • NEW YORK (GenomeWeb) - As they've begun to dig into the available data on He Jiankui's germline genome editing experiment, CRISPR researchers have continued to condemn the work. (genomeweb.com)
  • The system comprises two transgenic strains: one expressing Cas9 protein from the germline-specific nanos promoter and the other ubiquitously expressing a custom guide RNA (gRNA) that targets a unique site in the genome. (genetics.org)
  • diseases
  • Various diseases are now being re-examined for presence of mutant alleles in the germline of the parents in order to further our understanding of how they can be passed-on. (wikipedia.org)
  • Germline gene therapy presents the prospect of reducing and eventually even completely eradicating certain inherited diseases in the future generations to come. (bio.net)
  • expression
  • Founder animals stably expressing Cas9-gRNA transmitted germline mutations to an average of 60% of their progeny, a dramatic improvement in efficiency over the previous methods based on transient Cas9 expression. (genetics.org)
  • human
  • Human GLGT (Germline Gene Therapy) is today's utilitarian coinage. (emutagen.com)
  • This makes ES cells prime candidates for vectors in Embryonic gene therapy, one of the doorways into the human germline which we shall discuss soon. (emutagen.com)
  • Should we stop manipulating the human germline? (snf.ch)
  • But shouldn't researchers everywhere respect the human germline until more is known about the possible ramifications? (snf.ch)
  • This book will contribute to this important discussion by providing an up-to-date summary and analysis of key issues in human germline gene therapy with the intention of laying the foundation for further debates and public policy decisions. (ebooks.com)
  • Without denigrating or glorifying the new technology, the authors offer a sober assessment of its promises and delusions, its dreams and nightmares by presenting potential benefits and harms of human germline gene therapy from a scientific, ethical and political standpoint. (ebooks.com)
  • The second part of the book considers the possible medical, evolutionary, economic, military, and psychosocial benefits and harms of human germline gene therapy and also considers the procedure from the perspective of human rights, justice, and interference with nature. (ebooks.com)
  • mice
  • The potential application of germline gene therapy was first illustrated by the shiverer mice which suffer from tremors, convulsions and early death as a result of an abnormal myelination of their CNS. (bio.net)
  • function
  • Here, we propose that germline polymorphisms can function as oncogenic modifiers, or co-oncogenes, and these determine what complementary subsequent somatic events are required for full malignant transformation. (diva-portal.org)