We confirmed that the double mutant devoid of these two peptide genes was a
phenocopy of the receptor mutant, and external application of the synthetic peptides restored contiguous Casparian strip formation in the mutant roots.
Recently, the term "Brugada
phenocopy" (BrP) has been used to describe these cases, provided they fulfill the following criteria: there is an identifiable trigger, BEP resolves after removal of said trigger (when possible), and the results of a provocative test with sodium channel blockers are negative [10].
Genetically confirming a clinical diagnosis of MEN1 in the proband is mandatory to assess other family members for the presence of the mutation so that they can be followed for potential endocrine problems and for avoiding unnecessary work-up due to "
phenocopy." In the present case, the 14-year-old brother of the proband had asymptomatic hyperparathyroidism.
Brugada
phenocopy: redefinition and updated classification.
In vitro differentiation does not completely "
phenocopy" the in vivo cell phenotype, however, it is unclear whether culture conditions are the sole limitation or whether epigenetic memory also contributes significantly.
Global Spns2 KO mice
phenocopy S1pr1 KO mice and exhibit a block in thymic egress and lymphopenia.
EBV exhibits complex regulatory interaction with the host genome during latency in part because the virus contains a
phenocopy of the host immunoglobulin gene locus and immune response regulatory transcription factors [2-4].
provide a timely review about PH associated with idiopathic pulmonary fibrosis and discuss the animal models used to
phenocopy and study the human condition.
Rhabdomyoma of the interventricular septum presenting as a Brugada
phenocopy. Cardiol Young.
With regard to ethanol and AUD, problems for translational progress include the presence of multiple sites of ethanol action (which make the research more complex and also increase associated costs), genetic variance in response to therapeutics (i.e., pharmacogenetics); variants of AUD with differing underlying mechanisms, but similar clinical signs (i.e.,
phenocopy); stigma of alcoholism that prevents people with AUD from seeking treatment; medication toxicity; competing strategies amongst clinicians endorsing psychosocial and/ or biological therapies; and uncertainty as to which animal models have greatest predictive validity for therapeutic responses in humans.
In contrast, ATG5 KO BMDMs
phenocopy cells treated with BAF, which also inhibits autophagic flux.