#haploinsufficiency — Wednesday, August 05, 2026 (2 items)
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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 | |
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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 |