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mouse RIM3 proteins carrying amino acid substitutions that correspond to mutations associated with autism (E176A and M259V) modify RIM3 interaction with VDCC beta-subunits
The Gsdma3 may play a role in the proliferation and differentiation of epidermal cells and hair follicles through negatively regulating beta-catenin (zeige CTNNB1 Proteine) expression.
in mouse skin keratinocytes, Gsdma3 expression could be regulated by TNF-alpha (zeige TNF Proteine).
Gsdma3 gene mutation interfered with catagen formation during mouse hair follicle cycle and, by upregulation of Caspase-3 (zeige CASP3 Proteine) expression and promotion of apoptosis, Gsdma3 gene could play an essential role in normal catagen induction.
These results suggest that Gsdma3 is necessary in hair shaft differentiation, and involved in Msx2 regulatory pathway.
Gsdm3 reflects a mutation hotspot and that Gsdm3 mutations cause alopecia in Rco2, Re(den), and Bsk (zeige EPHA5 Proteine) mice.
We identified four novel CNVs in three different genes (one duplication in USH2A gene, two duplications in CEP290 gene, and one duplication in RIMS2 (zeige RIMS2 Proteine) gene) in total four families, at a detection rate of 8% (4/50).
Western blot analysis shows increased piccolo protein expression in the amygdala in schizophrenia.
Plays a role in the transition from catagen to telogen at the end of hair follicle morphogenesis.
regulating synaptic membrane exocytosis 3
, bare skin
, gasdermin 3
, recombination induced mutation 3
, regulating synaptic membrane exocytosis protein 3
, RIM 3
, RIM3 gamma
, Rab-3 interacting molecule 3
, rab-3-interacting molecule 3