Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study identified four novel mutations in the C2orf37 gene among Woodhouse–Sakati syndrome patients, doubling known mutations, and found no significant link between isolated symptoms like deafness and dystonia and these mutations.

This study found that mice with a mutant CDP/Cux protein lacking the homeodomain showed severely impaired growth, high postnatal mortality, and reduced fertility, highlighting CDP/Cux's role in developmental regulation.

This study found that the ablation of Esrp1 and Esrp2 disrupts epithelial tight junctions by affecting Arhgef11 isoform expressions, highlighting a potential mechanistic link between splicing alterations and epithelial barrier defects.

This study found that late embryonic skin injuries can regenerate multiple tissue types, but this ability is hindered postnatally due to fibroblast-driven hyperinnervation, which can be mitigated to enable regeneration.

This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.