Publications by authors named "Haijun Ge"
Acute kidney injury (AKI) poses a significant global public health challenge. Current methods for detecting AKI rely on monitoring changes in serum creatinine (Scr), blood urea nitrogen (BUN), urinary output and some commonly employed biomarkers. However, these indicators are usually neither specific nor sensitive to AKI, especially in cases of mild kidney injury.
View Article and Find Full Text PDFPrimary ciliary dyskinesia (PCD) is a highly heterogeneous recessive inherited disorder. FAP54, the homolog of CFAP54 in Chlamydomonas reinhardtii, was previously demonstrated as the C1d projection of the central microtubule apparatus of flagella. A Cfap54 knockout mouse model was then reported to have PCD-relevant phenotypes.
View Article and Find Full Text PDFBackground: Primary ciliary dyskinesia (PCD) is a genetic ciliopathy characterized by dysfunction of motile cilia. Currently, approximately 50 causative genes accounting for 60%-70% of all PCD cases have been identified in PCD-affected individuals, but the etiology in approximately 30%-40% of PCD cases remains unknown.
Methods: We analyzed the clinical and genetic data of two PCD individuals who were suspected of having PCD.
Article Synopsis
- Primary familial brain calcification (PFBC), also known as Fahr's disease, is characterized by symmetric brain calcifications in specific brain regions and can manifests as movement disorders, cognitive impairment, and neuropsychiatric symptoms in middle-aged patients.
- Researchers studied a family with PFBC and two sporadic cases, discovering three novel mutations in causative genes that are linked to the disease, including two frameshift mutations and one splice donor site mutation.
- These mutations, identified in highly conserved regions and predicted to be pathogenic, broaden the known mutation spectrum for PFBC and improve understanding of its genetic basis.