loss-of-function

A team at Britain's Wellcome Trust Sanger Institute is developing a new catalogue of so-called "loss-of-function" LoF gene variants to help identify new disease-causing mutations, and say their work will help scientists better understand the normal function of human genes.

Reuters: Press Release 2012

That said, many small duplications do not show much effect because the amount of gene product is regulated to produce homeostatic levels also why most loss-of-function mutations are recessive.

An egregiously stupid remark by an IDiot (redux) - The Panda's Thumb 2009

As the workers note: Heterozygosity for partial or complete loss-of-function alleles . . . may have little negative effect on overall fitness including transmission of mutant alleles, while providing a modest but significant protective effect against malaria.

Scientists' Responses Solicited James F. McGrath 2008

Just like in model organisms, identifying the phenotypic consequences of loss-of-function mutations gives a somewhat clearer picture of what processess that gene is involved in.

Rant: Human Research... Carlo Artieri 2006

Hemophilia A is defined by loss-of-function mutations in factor VIII, and there are greater than 40,000 registered patients in the U.S. and E.U. Hemophilia B, defined by loss-of-function mutations in factor IX, affects greater than 9,500 registered patients in the U.S. and E.U. Standard treatment for hemophilia patients involves replacement of the missing clotting factor either as prophylaxis or on-demand therapy.

unknown title 2011

Hemophilia A is defined by loss-of-function mutations in factor VIII and Hemophilia B is defined by loss-of-function mutations in factor IX.

unknown title 2011

Here we report that heterozygosity for tomato loss-of-function alleles of

Naturejobs - All Jobs Uri Krieger 2010

Figure 1: Heterozygosity for loss-of-function mutations in

Naturejobs - All Jobs Uri Krieger 2010

These results are consistent with the loss-of-function disease model, in which the repeat expansions compromise ZNF9 function.

PLoS ONE Alerts: New Articles Morgan A. Sammons et al. 2010

DDIT4 promoter (pRTP) or of the promoter with a loss-of-function mutation within the

Naturejobs - All Jobs Toshinori Yoshida 2010