A gain-of-function mutation is a genetic lesion that causes the normal product of a gene to be expressed inappropriately (at abnormally high levels and/or at the wrong time or location), or to acquire a new abnormal function through alteration of the gene product itself. Gain-of-function ...
Related to gain-of-function mutation: back mutation, genetic mutation, gene mutation, conditional mutantmutation mutation, in biology, a sudden, random change in a gene, or unit of hereditary material, that can alter an inheritable characteristic. Most mutations are not beneficial, since any change...
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. ...
gain-of-function mutation A gain-of-function mutation is a type of genetic mutation that results in an alteration of a protein or gene, leading to an enhanced or abnormal function. In contrast to loss-of-function mutations, which usually result in a partial or complete loss of protein ...
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...
Mutations which affect an organism are often categorized into two basic types: loss-of-function mutations and gain-of-function mutations.1 A loss-of- function mutation is 'a mutation that results in reduced or abolished protein function'.2 A gain-of-function muta- tion has been defined as '...
National Institute of Hematology and Infectious Diseases, Department for Pediatric Hematology and Hemopoietic Stem Cell Transplantation, Central Hospital of Southern Pest, Budapest, Hungary Gergely Krivan & Vera Goda Division of Haematology/Oncology, Department of Pediatrics, Hospital for Sick Children, Toron...
loss-of-functionmutationsandgain-of-functionmutations.1Aloss-of-functionmutationis‘amutationthatresultsinreducedorabolishedproteinfunction’.2Again-of-functionmuta-tionhasbeende nedas‘amutationthatconfersneworenhancedactivityonaprotein’.3Agoodunderstandingofthesetwotypesofmutationscanbegainedbyexaminingmutations...
摘要: A gain-of-function mutation is any mutation of a gene that causes increased function and/or activity of its encoded protein or of a protein that is directly or indirectly regulated by the mutated... DOI: 10.1007/3-540-30683-8_620 被引量: 8 年份: 2001 收藏...
Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63. 来自 Oxford Univ Press 喜欢 0 阅读量: 7 摘要: The transcriptional co-activator p63 is of crucial importance for correct development of the limbs, ectodermal appendages (skin, nails, ...