1.Digenic inheritance of PROKR2 and WDR11 mutations in Kallmann syndrome—A case report and literature review
Xin PAN ; Conghui CAO ; Xiaoli WANG ; Yaqiu JIANG
Chinese Journal of Endocrinology and Metabolism 2022;38(2):139-143
Kallmann syndrome(KS) is a subtype of idiopathic hypogonadotropic hypogonadism(IHH), characterized by delayed puberty, undeveloped secondary sexual characters, accompanied by anosmia, or hyposmia. At present, more than 40 genes are related to the pathogenesis of IHH, and new gene loci have been found continuously. At the same time, digenic gene mutation or oligogenic mutation is considered to be an important pathogenic mechanism of IHH. The clinical phenotype of KS/IHH caused by different gene mutations is complex and diverse, and the response to treatment is also variable. This paper presents the clinical data and treatment of a case of KS caused by a compound double heterozygous mutation of WDR11 and PROKR2 genes. PROKR2 gene is a classic KS pathogenic gene, while the WDR11 gene is a relatively new type of KS pathogenic gene. Included with this case report is a literature review of characteristics of cases with WDR11 gene mutation.
2.Engineering and application of Komagataella phaffii as a cell factory.
Yufei LIU ; Ying CAO ; Liye CHANG ; Conghui SHAN ; Kun XU
Chinese Journal of Biotechnology 2023;39(11):4376-4396
Nowadays, engineered Komagataella phaffii plays an important role in the biosynthesis of small molecule metabolites and protein products, showing great potential and value in industrial productions. With the development and application of new editing tools such as CRISPR/Cas9, it has become possible to engineer K. phaffii into a cell factory with high polygenic efficiency. Here, the genetic manipulation techniques and objectives for engineering K. phaffii are first summarized. Secondly, the applications of engineered K. phaffii as a cell factory are introduced. Meanwhile, the advantages as well as disadvantages of using engineered K. phaffii as a cell factory are discussed and future engineering directions are prospected. This review aims to provide a reference for further engineering K. phaffii cell factory, which is supposed to facilitate its application in bioindustry.
Saccharomycetales/genetics*
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Genetic Techniques
3.Application of prostatic exosomal protein in the diagnosis of histological prostatitis in patients with benign prostatic hyperplasia
Mingyang CAO ; Jiajun DONG ; Yang DONG ; Hui YU ; Yu’ang CHEN ; Conghui HAN
Journal of Modern Urology 2023;28(7):583-587
【Objective】 To investigate the feasibility of prostatic exosomal protein (PSEP) detection kit in the diagnosis of histological prostatitis (HP) in patients with benign prostatic hyperplasia (BPH), and to explore the correlation between PSEP and other clinical parameters. 【Methods】 A total of 104 patients with BPH or BPH plus HP treated during Nov.2021 and Nov.2022 were involved. The patients were instructed to fill out the International Prostate Symptom Score (IPSS) scale independently before surgery. Clinical data such as prostate volume, residual urine volume, free prostate specific antigen (fPSA), total prostate specific antigen (tPSA), and fPSA/tPSA were collected. Preoperative midstream morning urine was collected for PSEP detection. 【Results】 The sensitivity and specificity of PSEP in the diagnosis of BPH were 93.51% and 70.37%, respectively, which were highly consistent with the postoperative pathological diagnosis results (Kappa=0.663). Serum PSEP level was positively correlated with tPSA level (r=0.242, P=0.040). 【Conclusion】 PSEP has a high clinical diagnostic value in the diagnosis of HP, which can provide a reliable basis for the diagnosis of HP in BPH patients and improve the diagnosis rate.