2007) and a link between gain-of-function
AC gene polymorphisms and diabetes susceptibility (Nordman et al.
mutation of c-kit in human gastrointestinal stromal tumors.
The characterization of naturally occurring gain-of-function
and loss-of-function human PCSK9 variants has increased our understanding of the cell biology and function of this secreted glycoprotein.
RAS genes are the most common targets for somatic gain-of-function
mutations in human cancers.
This suggests that the outcome on cell fitness is determined by the relative contribution of aggregation formation, and its effect: either loss-of-function or gain-of-function
This study highlights a gain-of-function
experiment that occurred in nature and shows us there are avian flu viruses out there beyond H5N1 and H7N9 that could pose a threat to humans," said corresponding author Stacey Schultz-Cherry, Ph.
The first gain-of-function
mutation associated with venous thrombosis [the G1691A substitution in the F5  gene, coagulation factor V (proaccelerin, labile factor)] was also found by studying an abnormal plasma phenotype (resistance to activated protein C).
PART II PROTEIN MISFOLDING DISEASE: GAIN-OF-FUNCTION
AND LOSS-OF-FUNCTION DISEASES.
We will then use loss- and gain-of-function
strategies to define the individual miRNAs that impact Teff or Treg differentiation and disease pathogenesis; dissect the external cues and intracellular mechanisms that regulate miRNA expression; and identify the mRNA networks controlled by key miRNAs in Teff and Treg differentiation.
1] Exome sequencing identifies somatic gain-of-function
PPM1D mutations in brainstem gliomas,Liwei Zhang, Lee H Chen, Hong Wan, Rui Yang, Zhaohui Wang, Jie Feng, Shaohua Yang, Sian Jones, Sizhen Wang, Weixin Zhou, Huishan Zhu, Patrick J Killela, Junting Zhang, Zhen Wu, Guilin Li, Shuyu Hao, Yu Wang, Joseph B Webb, Henry S Friedman, Allan H Friedman, Roger E McLendon, Yiping He, Zachary J Reitman, Darell D Bigner, Hai Yan, Nature Genetics, Advance Online Publication, DOI: 10.
mutation of JAK2 in myeloproliferative disorders.
In a presentation titled "Myeloproliferative disease, autoimmunity and cancer in mice with targeted deletion of miR-146a gene" Regulus scientists and collaborators from the California Institute of Technology demonstrated the biological role of miR-146a by establishing loss- and gain-of-function
reduces canonical auxin signaling (Barbez et al.
Inherited erythromelalgia is caused by gain-of-function
mutations in Nav1.
Three loss-of-function alleles (G946A, A1513C, and T1729A) have been characterized in recombinant expression systems, and similar methods have recently been used to characterize a gain-of-function
allele (C489T) (20-23).