Moreover, we argued that TR genes important for human evolution also show #haploinsufficiency and are involved in neurodevelopmental disorders #NDDs, incl. intellectual disability (ID), #autism, and #schizophrenia.

Recently, more evidence has been emerging that supports this hypothesis:
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Novel genotypes, phenotypes, and triggers in humans with #OTULIN #haploinsufficiency. Tristan van der Linden, András Spaan et al. characterize six unrelated patients in whom severe #necrosis followed infectious and/or traumatic triggers. rupress.org/jhi/article/...

#Staphylococcus #Ubiquitin

New in @jhumimmunity.org: Tristan van der Linden, András Spaan et al. describe and characterize six unrelated patients with #OTULIN #haploinsufficiency, in whom severe #necrosis followed infectious and/or traumatic triggers. rupress.org/jhi/article/...

#Staphylococcus #Ubiquitin

Tristan van der Linden, András Spaan et al. describe and characterize six unrelated patients with #OTULIN #haploinsufficiency, in whom severe #necrosis followed infectious and/or traumatic triggers. rupress.org/jhi/article/...

#Staphylococcus #Ubiquitin

Specifically, we decided to compare (i) #intact #aging (the baseline), (ii) #VCD injections 💉 starting up to middle-age, and (iii) #haploinsufficiency 🧬 of #Foxl2. Importantly, each model revealed specific aspects, distinct in each model, that are most reminiscent of human ovarian aging. 3/9