Related to Gain of function:genetic mutation,mutation,Conditional mutation,Loss of function mu·ta·tion (myo͞o-tā′shən) n. 1.The act or process of being altered or changed. 2.An alteration or change, as in nature, form, or quality. ...
Controversial COVID study that promoted unproven treatment retracted after four-year saga News18 DEC 24 Small-molecule inhibition of SARS-CoV-2 NSP14 RNA cap methyltransferase Article11 DEC 24 Virtual lab powered by ‘AI scientists’ super-charges biomedical research ...
of this study is available from the corresponding authors upon request. Publicly available datasets/databases used in this study include the COSMIC database (https://cancer.sanger.ac.uk/cosmic), Kinase.com (http://www.kinase.com/human/kinome/) and the RCSB Protein Databank (PDB,https://www...
Gain-of-function strategy to study LmaPA2G4.Brianna, NorrisMullinsKaitlin, VanderKolkPaola, VacchinaMichelle V., JoyceMiguel, A. Morales
摘要: Gain of function mutations describes mutations that result in new (protein) functions in heterozygous individuals. Huntington's DiseaseLoss of Function MutationMendelian Forms of Human Hypertension... DOI: 10.1007/3-540-29623-9_7112 被引量: 69 年份: 2005 收藏...
Recently, the zebrafish has become a popular system used to study vertebrate development, as it is accessible to such manipulations by both genetic and mol... M Hammerschmidt,P Blader,Uwe Strhle - 《Methods in Cell Biology》 被引量: 62发表: 1998年 Evolution of New Hormone Function: Loss ...
This study evaluates the use of vectors based on adeno-associated viruses (AAVs) to noninvasively deliver genes to airway epithelial cells as a means for a... A Auricchio,E O'Connor,D Weiner,... - 《Journal of Clinical Investigation》 被引量: 279发表: 2002年 Expression of human factor ...
Moreover, our results indicate that allosteric modulators can restore the activity of the loss-and gain-of-function mutant CASRs, identified in this study. 展开 关键词: FAMILIAL HYPOCALCIURIC HYPERCALCEMIA AUTOSOMAL-DOMINANT HYPOCALCEMIA EXTRACELLULAR CA2+-SENSING RECEPTOR ACTIVATING MUTATIONS GENE ...
Our previous study found that activation of the Notch signaling in osteoblasts promotes cell proliferation and inhibits differentiation, leading to an osteosclerotic phenotype in transgenic mice. In this study we report a longer-lived mouse model that also develops osteosclerosis and a genetic ...
The retinitis pigmentosa GTPase regulator (RPGR) is essential in the maintenance of photoreceptor viability. Mutations in the X-linked RPGR gene have generally been assumed to be recessive. This study was undertaken to investigate whether certain mutant RPGR alleles may act dominantly.An RPGR trans...