Interaction between MARK3 (rs11623869) PLCB4 (rs6086746) and GEMIN2 (rs2277458) variants with bone mineral density and serum 25-hidroxivitamin D levels in Mexican Mestizo women.
The Polymorphism at PLCB4 Promoter (rs6086746) Changes the Binding Affinity of RUNX2 and Affects Osteoporosis Susceptibility: An Analysis of Bioinformatics-Based Case-Control Study and Functional Validation.
Our observations of this case further delineate the phenotype of ACS associated with autosomal recessive PLCB4 loss-of-function mutations underscoring gastrointestinal dysfunction and severe sleep-related breathing abnormalities as additional features when compared to patients with heterozygous mutations with a presumed dominant negative effect.
Dysregulation of primary PLC signaling is linked to several brain disorders including epilepsy schizophrenia bipolar disorder Huntington's disease depression and Alzheimer's disease. (Review)
Auriculocondylar syndrome is caused by PLCB4 mutations inherited not only in an autosomal dominant manner (catalytic domain missense mutations) but also inherited as autosomal recessive (complete loss of function).
The phenotypic variability of auriculocondylar syndrome suggests that mutations in this pathway especially those affecting core signaling molecules such as PLCB4 and GNAI3 should be considered as potential candidates for other ear and jaw malformations.
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