Jiemei Gu
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Research Subjects
Research Interests
Jiemei Gu has a total of 13 co-authors. Here are the top co-authors by number of shared publications:
- Zhen-Lin Zhang
Shanghai Clinical Research Center of Bone Diseases, Department of Osteoporosis and Bone Diseases, Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China
2 shared publications Chun Wang
Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone Diseases, Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China
1 shared publication- Chun Wang
Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone Diseases, Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China
1 shared publication Hao Zhang
Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone Diseases, Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China
1 shared publicationHua Yue
Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone Diseases, Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China
1 shared publication- Na Ren
Shanghai Clinical Research Center of Bone Disease & Department of Osteoporosis and Bone Diseases, Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200233, China
1 shared publication
Latest Publications
- Open Access
Clinical and Genetic Characteristics of Hypophosphatasia in Chinese Adults
Hypophosphatasia (HPP) is an inherited disease caused by ALPL mutation, resulting in decreased alkaline phosphatase (ALP) activity and damage to bone and tooth mineralization. The clinical symptoms of adult HPP are variable, making diagnosis challenging. This study aims to clarify the clinical and genetic characteristics of HPP in Chinese adults. There were 19 patients, including 1 with childhood-onset and 18 with adult-onset HPP. The median age was 62 (32–74) years and 16 female patients were involved. Common symptoms included musculoskeletal symptoms (12/19), dental problems (8/19), fractures (7/19), and fatigue (6/19). Nine patients (47.4%) were misdiagnosed with osteoporosis and six received anti-resorptive treatment. The average serum ALP level was 29.1 (14–53) U/L and 94.7% (18/19) of patients had ALP levels below 40 U/L. Genetic analysis found 14 ALPL mutations, including three novel mutations—c.511C>G (p.His171Ala), c.782C>A (p.Pro261Gln), and 1399A>G (p.Met467Val). The symptoms of two patients with compound heterozygous mutations were more severe than those with heterozygous mutations. Our study summarized the clinical characteristics of adult HPP patients in the Chinese population, expanded the spectrum of pathogenic mutations, and deepened clinicians’ understanding of this neglected disease.
Open AccessClinical and Genetic Characteristics of Hypophosphatasia in Chinese Adults
Hypophosphatasia (HPP) is an inherited disease caused by ALPL mutation, resulting in decreased alkaline phosphatase (ALP) activity and damage to bone and tooth mineralization. The clinical symptoms of adult HPP are variable, making diagnosis challenging. This study aims to clarify the clinical and genetic characteristics of HPP in Chinese adults. There were 19 patients, including 1 with childhood-onset and 18 with adult-onset HPP. The median age was 62 (32–74) years and 16 female patients were involved. Common symptoms included musculoskeletal symptoms (12/19), dental problems (8/19), fractures (7/19), and fatigue (6/19). Nine patients (47.4%) were misdiagnosed with osteoporosis and six received anti-resorptive treatment. The average serum ALP level was 29.1 (14–53) U/L and 94.7% (18/19) of patients had ALP levels below 40 U/L. Genetic analysis found 14 ALPL mutations, including three novel mutations—c.511C>G (p.His171Ala), c.782C>A (p.Pro261Gln), and 1399A>G (p.Met467Val). The symptoms of two patients with compound heterozygous mutations were more severe than those with heterozygous mutations. Our study summarized the clinical characteristics of adult HPP patients in the Chinese population, expanded the spectrum of pathogenic mutations, and deepened clinicians’ understanding of this neglected disease.
- Open Access
- 13 December 2022
- Published by Frontiers Media SA in Frontiers in Endocrinology
- Vol. 13
Vitamin D pathway gene variation rs3740165 is associated with serological uric acid levels in healthy Chinese women
Aim: To investigate the relationship between gene polymorphisms involved in the vitamin D metabolic pathway and serum uric acid (UA) levels in Chinese women.Methods: Fifteen key genes within the vitamin D metabolic pathway were screened using 96 single nucleotide polymorphisms in a group of 1,206 (37.96 ± 13.08 years) unrelated healthy Chinese women (aged 20–85 years). Blood and urine tests were performed at the same time. The Wilcoxon Mann–Whitney test was used to compare groups aged ≤50 years and >50 years. The mean serum UA values were computed within each group of homozygous referent, heterozygous, and homozygous variant genotypes for each single nucleotide polymorphism.Results: The exclusion process left 1,169 participants (38.16 ± 13.13 years) for analysis. One single nucleotide polymorphism in the CUBN gene (rs3740165) was identified as being significantly associated with serum UA levels in the group aged over 50 years. The wild type (C/C) population had higher serum UA levels in this group (PCUBN gene contributes to variability in serum UA levels in healthy Chinese Han women over 50 years of age.
- 13 December 2022
- Published by Frontiers Media SA in Frontiers in Endocrinology
- Vol. 13
Open AccessVitamin D pathway gene variation rs3740165 is associated with serological uric acid levels in healthy Chinese women
Aim: To investigate the relationship between gene polymorphisms involved in the vitamin D metabolic pathway and serum uric acid (UA) levels in Chinese women.Methods: Fifteen key genes within the vitamin D metabolic pathway were screened using 96 single nucleotide polymorphisms in a group of 1,206 (37.96 ± 13.08 years) unrelated healthy Chinese women (aged 20–85 years). Blood and urine tests were performed at the same time. The Wilcoxon Mann–Whitney test was used to compare groups aged ≤50 years and >50 years. The mean serum UA values were computed within each group of homozygous referent, heterozygous, and homozygous variant genotypes for each single nucleotide polymorphism.Results: The exclusion process left 1,169 participants (38.16 ± 13.13 years) for analysis. One single nucleotide polymorphism in the CUBN gene (rs3740165) was identified as being significantly associated with serum UA levels in the group aged over 50 years. The wild type (C/C) population had higher serum UA levels in this group (PCUBN gene contributes to variability in serum UA levels in healthy Chinese Han women over 50 years of age.