Candidate modifier genes for immune function in 22q11.2 deletion syndrome.

Catherina T PinnaroTravis HenryHeather J MajorMrutyunjaya ParidaLucy E DesJardinJohn R ManakBenjamin W Darbro

Published in: Molecular genetics & genomic medicine (2019)

The expression of TBX1, which seems to confer the major phenotypic features of 22q11.2DS, is regulated via retinoic acid signaling, and alterations in retinoic acid signaling during embryonic development can lead to phenocopies of 22q11.2DS. These observations support the hypothesis that genetic modifiers outside the microdeletion locus may influence the immune function in 22q11.2DS patients.

Keyphrases

end stage renal disease
ejection fraction
genome wide
chronic kidney disease
newly diagnosed
poor prognosis
prognostic factors
peritoneal dialysis
transcription factor
patient reported outcomes
binding protein
copy number
long non coding rna
genome wide identification