Publications by authors named "Jia Yuexin"
Article Synopsis
- The study investigates how the protein p53 affects GAP-43 levels in cultured primary cortical neurons from newborn rats.
- Primary cortical neurons were isolated and cultured from Wistar rats, and techniques like real-time PCR and Western blot were used to measure GAP-43 levels after manipulating p53 expression.
- Results showed that increasing p53 levels led to higher GAP-43 expression, while blocking p53 reduced it, indicating that p53 plays a key role in regulating GAP-43 in these neurons.
Background: Williams syndrome is an autosomal dominant multisystem disorder caused by a 1.5-1.8 Mb deletion on chromosome 7q11.
View Article and Find Full Text PDFObjective: Gene mutation analysis was performed on a family with familial hemophagocytic lymphohistiocytosis (FHL) so as to provide an accurate etiological diagnosis, leading to genetic counseling for the family members.
Methods: The clinical data of two probands (siblings) with FHL in one family were analyzed, and eight genes related to the onset of the primary hemophagocytic lymphohistiocytosis (pHLH) () were detected and analyzed in the probands and their parents with whole exome sequencing.
Results: Proband 1 was a two-year-old male with the clinical manifestations of fever, hepatosplenomegaly, and a decreased peripheral blood cell count, sCD25: 12504pg/mL.
Background: The chromosomal 15q11-q13 regions are structurally complex, and their abnormalities are associated with various neuropsychiatric disorders, including autism spectrum disorder (ASD), epilepsy, Angelman syndrome, and Prader-Willi syndrome.
Case Description: A 6-year-old child was admitted to the hospital as a result of an "epileptic status" showing ASD, intractable epilepsy, and total developmental retardation. Chromosome gene detection showed repetitive variation in the 15q11-q13 regions, and the video electroencephalogram was abnormal.