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Berardinelli-Seip congenital lipodystrophy type 2

Disease

1 paper studies it1 more mentions it2 findings

  • Humans1

Associations

2

DUSP22 promoter DNA methylation

downin humans1

1 study

  1. Berardinelli-Seip congenital lipodystrophy type 2 is associated with DUSP22 promoter DNA methylation in humans.

    “We could also observe significant hypomethylation in the promoter of the dual specificity phosphatase 22 gene when comparing CGL2 patients versus controls.”

    HumansCGL2 patients versus controlsblood

    Accelerated epigenetic aging and DNA methylation alterations in Berardinelli-Seip congenital lipodystrophy

    Human molecular genetics

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Epigenetic age

upin humans1

1 study

  1. Berardinelli-Seip congenital lipodystrophy type 2 is associated with epigenetic age in humans.

    “This analysis revealed significant age acceleration in blood DNA of CGL2 patients using both first- and second-generation epigenetic clocks.”

    HumansCGL2 patients with BSCL2 mutationsblood

    Accelerated epigenetic aging and DNA methylation alterations in Berardinelli-Seip congenital lipodystrophy

    Human molecular genetics

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