haploinsufficiency
Look at other dictionaries:
Haploinsufficiency — occurs when a diploid organism only has a single functional copy of a gene (with the other copy inactivated by mutation) and the single functional copy of the gene does not produce enough of a gene product (typically a protein) to bring about a… … Wikipedia
Haploinsufficiency — A situation in which the total level of a gene product (a particular protein) produced by the cell is about half of the normal level and that is not sufficient to permit the cell to function normally. Haploinsufficiency can be due to a number of… … Medical dictionary
22q13 deletion syndrome — Infobox Disease Name = PAGENAME Caption = DiseasesDB = ICD10 = ICD9 = ICDO = OMIM = 606232 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = 22q13 Deletion Syndrome (spoken as twenty two q one three ), also known as Phelan McDermid Syndrome … Wikipedia
Marfan syndrome — Marfan redirects here. For the person after whom the syndrome is named, see Antoine Marfan. Marfan syndrome Classification and external resources Micrograph demonstrating myxomatous degeneration of the aorti … Wikipedia
Telomerase — is an enzyme that adds specific DNA sequence repeats ( TTAGGG in all vertebrates) to the 3 ( three prime ) end of DNA strands in the telomere regions, which are found at the ends of eukaryotic chromosomes. The telomeres contain condensed DNA… … Wikipedia
Carcinogenesis — For the scientific journal, see Carcinogenesis (journal). Cancers are caused by a series of mutations. Each mutation alters the behavior of the cell somewhat. Carcinogenesis or oncogenesis is literally the creation of cancer. It is a process by… … Wikipedia
Short stature homeobox gene — or SHOX is a gene on the X chromosome and Y chromosome which is associated with short stature in humans if mutated or present in only one copy (haploinsufficiency). PathologyThe gene was first found during a search for the cause of short stature… … Wikipedia
Desmoplakin — PDB rendering based on 1lm5 … Wikipedia
SUMO network — consists of enzymes and substrates involved in the dynamic posttranslational modification process of sumoylation (i.e. transfer of SUMO protein to substrates). Network membersThe SUMO network members (gene name and aliases) as published in the… … Wikipedia
RANBP2 — RAN binding protein 2 PDB rendering based on 1rrp … Wikipedia
