#haploinsufficiency — top 20, last 30d
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Suppressive genetic interactions between haploinsufficient mitochondrial genes encoded in the 22q11.2 microdeletion locus define brain and cardiac phenotypes.
(academic.oup.com)
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Human Molecular Genetics 2026-08-10 | #mitochondria #haploinsufficiency #neurodevelopment #microdeletion #cardiogenesis | |
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Failed metabolic adaptation to stress contributes to epidermal cell adhesion defects in Darier disease.
(science.org)
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Science Advances 2026-08-05 | #oxidative stress #keratinocytes #calcium signaling #haploinsufficiency #dermatology | |
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Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.
(linkinghub.elsevier.com)
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American Journal of Human Genetics 2026-08-05 | #neurodevelopmental #haploinsufficiency #rna binding #intellectual disability #autism |