Aplasia cutis congenita pathomechanisms reveal key regulators of skin and skin appendage morphogenesis
AG Marneros - Journal of Investigative Dermatology, 2024 - Elsevier
Aplasia cutis congenita (ACC) manifests at birth as a defect of the scalp skin. New findings
answer 2 longstanding questions: why ACC forms and why it affects mainly the midline scalp …
answer 2 longstanding questions: why ACC forms and why it affects mainly the midline scalp …
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome
KA Miller, DAC Walma, DM Pinkas, RS Tooze… - Journal of Medical …, 2024 - jmg.bmj.com
Introduction KCTD15 encodes an oligomeric BTB domain protein reported to inhibit neural
crest formation through repression of Wnt/beta-catenin signalling, as well as transactivation …
crest formation through repression of Wnt/beta-catenin signalling, as well as transactivation …
A Comprehensive Analysis of the Structural Recognition between KCTD Proteins and Cullin 3
N Balasco, L Esposito, G Smaldone… - International Journal of …, 2024 - mdpi.com
KCTD ((K) potassium Channel Tetramerization Domain-containing) proteins constitute an
emerging class of proteins involved in fundamental physio-pathological processes. In these …
emerging class of proteins involved in fundamental physio-pathological processes. In these …
Structural studies of KCTD1 and its disease-causing mutant P20S provide insights into the protein function and misfunction
N Balasco, A Ruggiero, G Smaldone… - International Journal of …, 2024 - Elsevier
Members of the KCTD protein family play key roles in fundamental physio-pathological
processes including cancer, neurodevelopmental/neuropsychiatric, and genetic diseases …
processes including cancer, neurodevelopmental/neuropsychiatric, and genetic diseases …
AP-2α/AP-2β transcription factors are key regulators of epidermal homeostasis
H Zhang, JR Raymundo, KE Daly, W Zhu… - Journal of Investigative …, 2024 - Elsevier
AP-2 transcription factors regulate ectodermal development, but their roles in epidermal
homeostasis in adult skin are unknown. We find that AP-2α is the predominant AP-2 family …
homeostasis in adult skin are unknown. We find that AP-2α is the predominant AP-2 family …
A BTB extension and ion-binding domain contribute to the pentameric structure and TFAP2A binding of KCTD1
DM Pinkas, JC Bufton, AE Hunt, CE Manning… - bioRxiv, 2024 - biorxiv.org
KCTD family proteins typically assemble into Cullin-RING E3 ligases. KCTD1 is an atypical
member that functions instead as a transcriptional repressor. Mutations in KCTD1 cause …
member that functions instead as a transcriptional repressor. Mutations in KCTD1 cause …