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Publications associées (30)
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles
Giovanna Ambrosini, Nicolas Jean Philippe Guex, Christian Iseli
Background: We previously described the KINSSHIP syndrome, an autosomal dominant disorder associated with intellectual disability (ID), mesomelic dysplasia and horseshoe kidney,caused by de novo variants in the degron of AFF3. Mouse knock-ins and overexpre ...
BMC2024The Detection of Early Epigenetic Inheritance of Mitochondrial Stress in C. Elegans with a Microfluidic Phenotyping Platform
Johan Auwerx, Martinus Gijs, Matteo Cornaglia, Hüseyin Baris Atakan
Fluctuations and deterioration in environmental conditions potentially have a phenotypic impact that extends over generations. Transgenerational epigenetics is the defined term for such intergenerational transient inheritance without an alteration in the D ...
2019Mutations in VSX2, SOX2, and FOXE3 Identified in Patients with Micro-/Anophthalmia
Anophthalmia and microphthalmia (A/M) are rare distinct phenotypes that represent a continuum of structural developmental eye defects. Here, we describe three probands from an Egyptian population with various forms of A/M: two patients with bilateral anoph ...
2019