02 janvier 2013

p16 family

Six CDKN2A families had pancreatic cancer . They also show that families with the CDKN2A 113insArg mutation have an increased risk not only of multiple melanomas and pancreatic carcinoma but also of breast cancer. We previously described CDKN2A exon 2 mutations in a pilot study of 43 esophageal cancers.
Posté par tnfalpha à 02:26 - Commentaires [0] - Permalien [#]

02 janvier 2013

Disease relevance of CDKN2A

Although germline CDKN2A coding mutations cosegregate with melanoma in 25-60% of families predisposed to the disease, there remains a number of mutation-negative families that demonstrate linkage of inherited melanoma to 9p21 markers. High frequency of multiple melanomas and breast and pancreas carcinomas in CDKN2A mutation-positive melanoma families.
Posté par tnfalpha à 02:26 - Commentaires [0] - Permalien [#]
02 janvier 2013

Interactions about p16

CDKN2A (gene) has been shown to interact with SERTAD1, CCNG1, Death associated protein 6, P53, E4F1, Cyclin-dependent kinase 4, Cyclin-dependent kinase 6, Mdm2, RPL11 and PPP1R9B. In spite of their structural and functional differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in control of the G1 phase of the cell cycle. This gene is frequently mutated or deleted in a wide variety of tumors and is known... [Lire la suite]
Posté par tnfalpha à 02:25 - Commentaires [0] - Permalien [#]
01 janvier 2013

BCHE in UniProtKB/Swiss-Prot

Function: BCHE Esterase with broad substrate specificity. Contributes to the inactivation of the neurotransmitter acetylcholine. Can degrade neurotoxic organophosphate esters.
Posté par tnfalpha à 01:51 - Commentaires [0] - Permalien [#]
01 janvier 2013

Entrez Gene summary for BCHE

Mutant alleles at the BCHE locus are responsible for suxamethonium sensitivity. Homozygous persons sustain prolonged apnea after administration of the muscle relaxant suxamethonium in connection with surgical anesthesia. The activity of pseudocholinesterase in the serum is low and its substrate behavior is atypical. In the absence of the relaxant, the homozygote is at no known disadvantage.
Posté par tnfalpha à 01:51 - Commentaires [0] - Permalien [#]
01 janvier 2013

Drug interaction sites of BCHE

Overlapping drug interaction sites of human butyrylcholinesterase dissected by site-directed mutagenesis. Enzyme-linked immunosorbent assays for acetylcholinesterase (AChE) and for butyrylcholinesterase (BCHE) were markedly more specific than conventional assays using selective enzyme inhibitors. Butyrylcholinesterase in human brain and acetylcholinesterase in human plasma: trace enzymes measured by two-site immunoassay.
Posté par tnfalpha à 01:50 - Commentaires [0] - Permalien [#]