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mutated mutiert
mutated mutierte
mutated verändert
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Mutation definition: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
mutation definition: Any change in the DNA of a cell. Mutations may be caused by mistakes during cell division, or they may be caused by exposure to DNA-damaging agents in the environment. Mutations can be harmful, beneficial, or have no effect. If they occur in cells that make eggs or sperm, they can be inherited; if mutations occur in other types of cells, they are not inherited. Certain mutations may lead to cancer or other diseases.
Mutation definition: Permanent, transmissible changes in the genetic material of an organism. Mutations can range from a single base change to the loss of a significant portion of a chromosome. These occur when DNA is not repaired prior to replication. Mutations in germ cells can be inherited. However, in somatic cells, they are not inherited. Somatic mutations can arise via exposure to chemical mutagens or ionizing radiation. These fixed changes in the genetic material can, in some cases, lead to cancer or other diseases.
Genes, MCC definition: Tumor suppressor genes located in the 5q21 region on the long arm of human chromosome 5. The mutation of these genes is associated with the formation of colorectal cancer (MCC stands for mutated in colorectal cancer).
MCC Gene definition: This gene plays a role in the negative regulation of cell cycle progression.
Ataxia Telangiectasia Mutated Protein definition: Ataxia Telangiectasia Mutated Protein, encoded by the ATM gene, belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates and functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, which results in a defect in cell cycle regulation and DNA repair. Mutations are also associated with sensitivity to DNA damaging agents such as ionizing radiation. At least 3 alternatively spliced transcript variants encoding distinct isoforms, have been identified. (from LocusLink)
Ataxia Telangiectasia Mutated Protein definition: The ATM protein has several functions and its PI3 kinase motif is required for maintaining telomere length, chromosome stability, mitogenic signal transduction, meiotic recombination, and cell cycle checkpoint control. Ionizing radiation enhances p53-directed kinase activity of ATM, contributing to activation of p53 and transcription of p21, and to cell cycle arrest. IR also promotes p53 binding of 14-3-3 proteins and increased p53 affinity for DNA. ATM is part of the BASC multi-subunit complex, which may sense abnormal DNA structures and/or regulate the post-replication repair process. The ATM gene is defective in Ataxia Telangiectasia, due to defects in cell cycle regulation and DNA repair. (from OMIM 208900 and NCI)
ARMET Protein definition: Encoded by human oncogene ARMET Gene, ARMET Protein is a highly conserved arginine-rich putative secreted product that belongs to the ARMET family. (Swiss-Prot, OMIM, and NCI)
PTEN Gene definition: This gene plays a role in signal transduction and apoptosis. It is also involved in the regulation of cell cycle progression.
GTPase-Deficient Dynamin definition: Dynamins that contain an alanine in position 44 instead of lysine. The amino acid substitution causes the protein to be GTPase-deficient and unable to function normally in the cell. GTPase-deficient dynamins are used experimentally to study dynamin function.
9 further definitions >>

Association of Ataxia Telangiectasia Mutated (ATM) gene mutation/deletion with Rhabdomyosarcoma

Peilin Zhang et al.

Molecular Cancer , 03 Jan 2003

A recessive genetic screen for host factors required for retroviral infection in a library of insertionally mutated Blm -deficient embryonic stem cells

Wei Wang et al.

Genome Biology , 2007

Induction of a mutant phenotype in human repair proficient cells after overexpression of a mutated human DNA repair gene.

P B Belt et al.

Nucleic Acids Research , 25 Oct 1991

A human gastric carcinoma contains a single mutated and an amplified normal allele of the Ki-ras oncogene.

J L Bos et al.

Nucleic Acids Research , 11 Feb 1986

Development of a single-chain, quasi-dimeric zinc-finger nuclease for the selective degradation of mutated human mitochondrial DNA

Michal Minczuk et al.

Nucleic Acids Research , 01 Jul 2008

Increased Sp1 binding mediates erythroid-specific overexpression of a mutated (HPFH) gamma-globulin promoter.

A Ronchi et al.

Nucleic Acids Research , 25 Dec 1989

Genome wide SNP comparative analysis between EGFR and KRAS mutated NSCLC and characterization of two models of oncogenic cooperation in non-small cell lung carcinoma

Hélène Blons et al.

BMC Medical Genomics , 12 Jun 2008

Increased erythroid-specific expression of a mutated HPFH gamma-globin promoter requires the erythroid factor NFE-1.

S Nicolis et al.

Nucleic Acids Research , 25 Jul 1989

Development of an inducible pol III transcription system essentially requiring a mutated form of the TATA-binding protein

Wolfgang Meissner et al.

Nucleic Acids Research , 15 Apr 2001

Antibodies to mutated citrullinated vimentin and disease activity score in early arthritis: a cohort study

Jennie Ursum et al.

Arthritis Research & Therapy , 2008

775 further publications >>