Publications by authors named "Hannah Schuenke"
Tumor necrosis factor receptor 1 (TNFR1) activates NF-κB-dependent pro-inflammatory gene expression, but also induces cell death by triggering apoptosis and necroptosis. Inhibition of inhibitor of NF-κB kinase (IKK)/NF-κB signaling in keratinocytes paradoxically unleashed spontaneous TNFR1-mediated skin inflammation in mice, but the underlying mechanisms remain poorly understood. Here, we show that TNFR1 causes skin inflammation in mice with epidermis-specific knockout of IKK2 by inducing receptor interacting protein kinase 1 (RIPK1)-dependent necroptosis, and to a lesser extent also apoptosis, of keratinocytes.
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- Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is a common birth defect with multiple causes, and a genome-wide study identified four new risk loci associated with it.
- The findings indicate that these genetic associations are concentrated in important genomic regions related to craniofacial development in both humans and mice.
- The research suggests that while common genetic variants significantly contribute to nsCL/P risk, they do not overlap with those causing nonsyndromic cleft palate only (nsCPO), indicating a different underlying genetic mechanism.
Article Synopsis
- Nonsyndromic cleft lip and palate (nsCL/P) and nonsyndromic cleft palate only (nsCPO) are the most common types of congenital orofacial clefts, with Van der Woude syndrome being a recognized associated condition, featuring mutations in the GRHL3 gene.
- Recent sequencing studies found that nsCPO patients had a significantly higher frequency of a specific mutation (rs41268753) linked to the GRHL3 gene compared to control groups, suggesting a strong association for nsCPO.
- Additional findings revealed four novel GRHL3 mutations, insinuating that genetic counseling may indicate these mutations are more influential in cases of nonsyndromic cleft palate over the syndromic forms like
Meta-analysis Reveals Genome-Wide Significance at 15q13 for Nonsyndromic Clefting of Both the Lip and the Palate, and Functional Analyses Implicate GREM1 As a Plausible Causative Gene.
PLoS Genet
March 2016
Nonsyndromic orofacial clefts are common birth defects with multifactorial etiology. The most common type is cleft lip, which occurs with or without cleft palate (nsCLP and nsCLO, respectively). Although genetic components play an important role in nsCLP, the genetic factors that predispose to palate involvement are largely unknown.
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