Sentences with phrase «loss of function mutant»

There is a small human population of growth hormone receptor loss of function mutants, people with Laron syndrome.

There have been human trials of myostatin blockade via antibodies, for example, and there are even a few well - muscled natural human myostatin loss of function mutants.

Not exact matches

Moreover, ALS - linked Sig1R mutant proteins were unstable and non-functional, indicating a loss - of function mechanism in SIGMAR1 - linked ALS.

Finally we aim at identifying phenotype specific transcriptional targets of mutant HTT (mut - HTT) or HTT loss of function in relevant neuronal / glial populations.

Construction of genetic models continues to be a most effective measure in understanding gene functions because loss of functional mutants accurately reflects non-redundant protein functions and elucidates the cellular impact of a protein of interest.

In rice, CYP724B1, encoded by the bsl1 ortholog D11, and CYP90B, encoded by OsDwf4, are partially redundant for C - 22 hydroxylation and the loss - of - function double mutants in OsDwf4 and D11 exhibited severe dwarfism and malformed, erect leaves (Sakamoto et al., 2006).

The finding that bsl1 - 1 and bsl1 - 2 fail to complement and have SNP variation affecting dramatic changes in the coding capacities of the same gene demonstrate that loss of Sevir.7 G140700 function is responsible for the bsl1 mutant phenotypes.

In loss - of - function bd1 mutants, SMs take on BM fate and spikelets are replaced by indeterminate branches (Chuck et al., 2002).

Although the genetic basis of Huntington's disease (HD) is now well understood, a key question in understanding the mechanisms underlying the disorder is whether the disease results from a toxic gain - of - function in the mutant protein, and / or the loss of some key functions performed by the wild type protein.

Mutant mice maintained on a genetic background containing a contribution from C57BL / 6J have the potential to harbor a loss - of - function mutation in the nicotinamide (NAD) nucleotide transhydrogenase gene (Nnt, Chromosome 13).

Hence we conclude that Boule expression is completely disrupted in the mutant, and we have established a loss - of - function allele in the mouse Boule homolog.

While we can not rule out the possibility that the similar male gametogenic requirement in mice and Drosophila is a coincidence and both evolved independently, the striking similarity in the reproductive defects of loss - of - function mutants of Drosophila and mouse Boule homologs (male specific infertility, global arrest of spermatogenesis, absence of elongating spermatids and mature sperm) argue against such a possibility.

Zebrafish rad51 loss - of - function mutants developed key features of FA, including hypocellular kidney marrow, sensitivity to cross-linking agents, and decreased size.