Article
Endocrinology & Metabolism
Lei Xi, Hao Zhang, Zhen-Lin Zhang
Summary: This study analyzed mutations in main pathogenic genes, COL1A1 and COL1A2, and clinical characteristics of osteogenesis imperfecta in China. The study found that there were more sporadic cases than familial cases, and most patients presented with a history of fractures. Hotspot mutations G767S, D1219N in COL1A1 and G337S in COL1A2 were identified as frequent mutations in Chinese patients.
JOURNAL OF BONE AND MINERAL METABOLISM
(2021)
Article
Endocrinology & Metabolism
Zhijia Tan, Hiu Tung Shek, Zhongxin Dong, Lin Feng, Yapeng Zhou, Shijie Yin, Anmei Qiu, Lina Dong, Bo Gao, Peikai Chen, Michael Kai Tsun To
Summary: Type V osteogenesis imperfecta is characterized by radial head dislocation, calcification of interosseous membrane, and hyperplastic callus. This study characterized the clinical features of 28 type V OI patients and discussed possible surgical solutions.
OSTEOPOROSIS INTERNATIONAL
(2022)
Article
Genetics & Heredity
Yousuke Higuchi, Kosei Hasegawa, Natsuko Futagawa, Miho Yamashita, Hiroyuki Tanaka, Hirokazu Tsukahara
Summary: Genetic analysis of COL1A1/2 and IFITM5 in 96 non-consanguineous Japanese OI probands showed a detection rate of 99% for COL1A1/2 variants, providing insights into genotype-phenotype correlations in OI.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Endocrinology & Metabolism
K. Ludwig, C. Seiltgens, A. Ibba, N. Saran, J. A. Ouellet, F. Glorieux, F. Rauch
Summary: This study focused on craniocervical abnormalities in patients with osteogenesis imperfecta (OI) type V, highlighting the importance of regular screening for basilar invagination and cervical kyphosis in this population. Some patients required surgical intervention, and there was no clear correlation between the severity of craniocervical abnormalities and the OI phenotype.
OSTEOPOROSIS INTERNATIONAL
(2022)
Article
Endocrinology & Metabolism
Juliana Marulanda, Karissa Ludwig, Francis Glorieux, Brendan Lee, V. Reid Sutton, Jean-Marc Retrouvey, Frank Rauch
Summary: This study describes the craniofacial and dental symptoms in two girls with CRTAP mutations. The severity of the craniofacial phenotype in these patients mirrors the severity of the skeletal phenotype, with both exhibiting class III malocclusion and antero-posterior crossbite.
Article
Endocrinology & Metabolism
Ying Deng, Yanan Huo, Jinfeng Li
Summary: This case report highlights the importance of accurate diagnosis through medical history, imaging, and genetic testing for patients with OI type V, especially in adolescents. It emphasizes the need to be cautious of potential misdiagnosis and avoid unnecessary treatment interventions for this particular age group.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Genetics & Heredity
Zhijia Tan, Hiu Tung Shek, Peikai Chen, Zhongxin Dong, Yapeng Zhou, Shijie Yin, Anmei Qiu, Lina Dong, Bo Gao, Michael Kai Tsun To
Summary: In this study, three children with Osteogenesis imperfecta (OI) and FKBP10 variants from a consanguineous family were characterized. The FKBP10 variant caused abnormal RNA processing, loss of FKBP65 protein, and resulted in collagen alignment and porous bone morphology. Transcriptomic analysis revealed significant effects on protein processing and osteoblast differentiation in patient-derived osteoblasts.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
Article
Endocrinology & Metabolism
Doaa Taqi, Hanan Moussa, Timothy Schwinghamer, Maxime Ducret, Didem Dagdeviren, Jean-Marc Retrouvey, Frank Rauch, Faleh Tamimi
Summary: The study found that dental anomalies in Osteogenesis imperfecta patients vary with different genetic variants and patient age, with genetic variants being better predictors of dental phenotype. Tooth discoloration may be related to enamel thickness, while pulp obliteration is associated with patient age and malocclusion, and taurodontism is possibly linked to delayed pulpal maturation.
Article
Medical Laboratory Technology
Se Jin Park, Ju Young Kim, Hye-Jeong Ahn, Haing-Woon Baik, Ju Hyung Kang
Summary: This study investigated the clinical and genetic manifestations in a 7-year-old boy with Osteogenesis imperfecta (OI) and his family members, finding that the OI-related genetic mutation in the patient was inherited from his mother while the GS-related genetic mutations were inherited from both parents. It is the first study to identify compound heterozygous variants in the SLC12A3 gene and a novel mutation in the COL1A1 gene in patients with OI and GS, highlighting the importance of genetic analysis in accurately diagnosing these conditions.
CLINICA CHIMICA ACTA
(2021)
Article
Endocrinology & Metabolism
Kinga Salacinska, Iwona Pinkier, Lena Rutkowska, Danuta Chlebna-Sokol, Elzbieta Jakubowska-Pietkiewicz, Izabela Michalus, Lukasz Kepczynski, Dominik Salachna, Nina Wieczorek-Cichecka, Malgorzata Piotrowicz, Tatiana Chilarska, Aleksander Jamsheer, Pawel Matusik, Malgorzata Wilk, Elzbieta Petriczko, Maria Gizewska, Iwona Stecewicz, Mieczyslaw Walczak, Magda Rybak-Krzyszkowska, Andrzej Lewinski, Agnieszka Gach
Summary: This paper presents the results of a nationwide study on 197 Polish OI patients, using next-generation sequencing and multiplex ligation probe amplification. The study identified various OI types, reported 97 distinct causative variants, and expanded the OI database with 38 novel pathogenic changes. The research contributes to a better understanding of the clinical and genetic aspects of OI.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Clinical Neurology
M. C. Keuning, S. J. G. Leeuwerke, P. R. van Dijk, A. G. J. Harsevoort, H. P. Grotjohan, A. A. M. Franken, G. J. M. Janus
Summary: This study investigated the prevalence of scoliosis and its relation to pulmonary function in patients with type III OI. The results showed that all patients had scoliosis, which was correlated with decreased vital lung capacity. The restrictive lung pathophysiology observed in the study population suggests that the pulmonary impairment in type III OI patients may be partly associated with scoliosis and partly intrinsic to OI.
EUROPEAN SPINE JOURNAL
(2022)
Article
Cell Biology
Xiao-Fang Wang, Hui Chen, Peng-Juan Huang, Zhuo-Kun Feng, Zi-Qi Hua, Xiang Feng, Fang Han, Xiao-Tao Xu, Ren-Juan Shen, Yang Li, Zi-Bing Jin, Huan-Yun Yu
Summary: This study identified multiple novel and known disease-causing mutations in patients with congenital nystagmus, expanding the mutational spectrum. The results showed that FRMD7 and GPR143 are mutation hotspots for CN, with a significant difference in mutation detection rates between different groups of patients.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Endocrinology & Metabolism
Shuoshuo Wei, Yangyang Yao, Meng Shu, Ling Gao, Jiajun Zhao, Tianyou Li, Yanzhou Wang, Chao Xu
Summary: The study aimed to evaluate the relationship between genotype and phenotype in osteogenesis imperfecta (OI) and the effect of treatment on the disease course. The research identified genotype-phenotype associations based on different types, pathogenic mechanisms, and gene inheritance patterns of OI in a Chinese cohort. Pamidronate treatment demonstrated excellent results regardless of genotype.
ENDOCRINE PRACTICE
(2022)
Article
Genetics & Heredity
Peikai Chen, Zhijia Tan, Hiu Tung Shek, Jia-nan Zhang, Yapeng Zhou, Shijie Yin, Zhongxin Dong, Jichun Xu, Anmei Qiu, Lina Dong, Bo Gao, Michael Kai Tsun To
Summary: Osteogenesis imperfecta is a rare genetic connective tissue disorder caused by mutations in COL1A1 or COL1A2 genes, with diverse mutations and phenotypes observed in Chinese patients. Missense mutations are significantly associated with more severe clinical phenotypes, and bone density is most responsive to treatment during juvenile years.
FRONTIERS IN GENETICS
(2022)
Article
Endocrinology & Metabolism
Kaitlin L. Ballenger, Nicol Tugarinov, Sara K. Talvacchio, Marianne M. Knue, An N. Dang Do, Mark A. Ahlman, James C. Reynolds, Jack A. Yanovski, Joan C. Marini
Summary: Adiposity and resting energy expenditure (REE) do not significantly differ between patients with osteogenesis imperfecta (OI) and BMI-similar healthy controls (HC). However, reduced REE among patients with non-collagen variants may contribute to greater adiposity.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Oncology
Peibin Yue, Yinsong Zhu, Christine Brotherton-Pleiss, Wenzhen Fu, Nagendra Verma, Jasmine Chen, Kayo Nakamura, Weiliang Chen, Yue Chen, Felix Alonso-Valenteen, Simoun Mikhael, Lali Medina-Kauwe, Kathleen M. Kershaw, Maria Celeridad, Songqin Pan, Allison S. Limpert, Douglas J. Sheffler, Stephen L. Shiao, Marcus A. Tius, Francisco Lopez-Tapia, James Turkson
Summary: In this study, potent azetidine-based, selective, irreversible Stat3 inhibitors were identified that inhibit the growth of triple-negative breast cancer. These compounds amplify the Stat3-inhibitory activity and selectively bind to Stat3, leading to the inhibition of constitutive and ligand-induced Stat3 signaling. The inhibitors showed no effect on other proteins or cells without aberrantly-active Stat3.
Article
Genetics & Heredity
Yi-Ming Guo, Jian-Hao Cheng, Hao Zhang, Jin-Wei He, Hua Yue, Wei-Wei Hu, Jie-Mei Gu, Yun-Qiu Hu, Wen-Zhen Fu, Chun Wang, Zhen-Lin Zhang
Summary: This study investigated the association between genetic variation of the POSTN gene and the prevalence of vertebral fractures and bone mineral density (BMD) in Chinese postmenopausal women. The study found that the rs9603226 variant of POSTN was significantly associated with vertebral fractures, while the rs3923854 variant was associated with serum periostin levels. These findings suggest that genetic variation of the POSTN gene may be a predicting factor for the risk of vertebral fractures, and serum periostin levels could be a potential biochemical parameter for osteoporosis in Chinese postmenopausal women.
Article
Endocrinology & Metabolism
Ziyuan Wang, Xiang Li, Ya Wang, Wenzhen Fu, Yujuan Liu, Zhenlin Zhang, Chun Wang
Summary: This study retrospectively investigated the clinical characteristics and genetic mutations of 36 Chinese patients with ADO II. The results showed that minor trauma-related fractures were the most common clinical manifestation of the disease, while visual loss and bone marrow failure were rare. The condition of ADO II appeared to be stable in most patients. The mutation c.2299C>T (p.Arg767Trp) was the most common variant, while the mutation c.937G>A [p.(Glu313Lys)] was associated with a more severe phenotype.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Geriatrics & Gerontology
Chunying Yang, Yidan Pang, Yigang Huang, Fang Ye, Xiaoyi Chen, Youshui Gao, Changqing Zhang, Lufeng Yao, Junjie Gao
Summary: This study investigates the effects of TERC deficiency on aging-related phenotypes in brain and bone marrow. The results show that TERC deficiency accelerates aging, leading to inflammation, suppression of neuron development, and activation of myeloid cells in both brain and bone marrow. The findings also highlight potential targets for therapy in age-related brain-bone diseases.
Article
Cell & Tissue Engineering
Kaiwen Zheng, Yiyang Ma, Cheng Chiu, Yidan Pang, Junjie Gao, Changqing Zhang, Dajiang Du
Summary: The study showed that direct co-culture of rat costal chondrocytes and human Wharton's jelly mesenchymal stem cells can effectively promote chondrogenesis and reduce hypertrophic tendency, demonstrating promising results both in vitro and in vivo experiments.
STEM CELL RESEARCH & THERAPY
(2022)
Article
Cell & Tissue Engineering
D. Zhu, H. Fang, H. Yu, P. Liu, Q. Yang, P. Luo, C. Zhang, Y. Gao, Y-X. Chen
Summary: This study demonstrates that the miR-19a-3p/FOXF2 axis plays a pivotal role in alcohol-impaired fracture healing and may be a potential therapeutic target.
BONE & JOINT RESEARCH
(2022)
Article
Geriatrics & Gerontology
Jinhui Zhao, Qianying Cai, Dajun Jiang, Lingtian Wang, Haiyan He, Shengbao Chen, Weitao Jia, Changqing Zhang
Summary: During the COVID-19 pandemic, elderly patients with hip fractures had a poorer prognosis despite testing negative for COVID-19. Factors such as timely admission, postoperative follow-up, and rehabilitation were found to significantly improve the prognosis of elderly COVID-19 negative patients with hip fractures.
CLINICAL INTERVENTIONS IN AGING
(2022)
Article
Pediatrics
Yiyang Ma, Hao Peng, Fuchou Hsiang, Haoyu Fang, Dajiang Du, Chenyi Jiang, Yehui Wang, Chun Chen, Changqing Zhang, Yun Gao
Summary: This study presents the clinical manifestations and diagnostic results of a patient with MPS IVA, revealing compound heterozygous variants of the GALNS gene. Additionally, it is the first study to describe the microarchitectural and histological changes of both subchondral bone and articular cartilage in the femoral head.
FRONTIERS IN PEDIATRICS
(2022)
Article
Chemistry, Applied
Danya Chen, Pei Liu, Mengna Li, Changqing Zhang, Youshui Gao, Yaping Guo
Summary: Nacre-mimetic scaffolds with layered structure and incorporated SP peptides were fabricated, showing excellent mechanical strength and biocompatibility, promoting MSC proliferation and differentiation, and enhancing subchondral bone regeneration in vivo.
CARBOHYDRATE POLYMERS
(2022)
Article
Engineering, Biomedical
Zhe Liu, Qian Tang, Ruo-Tao Liu, Ming-Zhao Yu, Hao Peng, Chang-Qing Zhang, Zhen-Zhong Zhu, Xiao-Juan Wei
Summary: This article investigates the molecular mechanism and preventive strategies for implant failure in patients using long-term glucocorticoids. A customized implant targeting WNT16 was constructed using a self-assembly coating, which was found to promote bone cell growth and integration while also exhibiting antibacterial properties.
BIOACTIVE MATERIALS
(2023)
Article
Chemistry, Physical
Wenzhen Fu, Natalia M. M. Neris, Yue Fu, Yunlong Zhao, Benjamin Krohn-Hansen, Peng Liu, Yang Yang
Summary: This study describes a metalloredox biocatalysis strategy to repurpose natural cytochromes P450 for catalysing asymmetric radical cyclization to arenes through an unnatural electron transfer mechanism. Directed evolution yielded a series of engineered P450 aromatic radical cyclases with complementary selectivities. The excellent tunability of this metalloenzyme family provides an exciting platform for utilizing free radical intermediates in asymmetric catalysis.
Proceedings Paper
Computer Science, Interdisciplinary Applications
Wenzhen Fu, Yixin Zhong, Baitong Chen, Yi Cao, Jiazi Chen, Hanhan Cong
Summary: DNA N6 methyladenine (6mA) is an extensively studied and widespread epigenetic modification that plays a vital role in cell growth and development. The existing biological experimental methods are expensive and time-consuming, prompting the development of a targeted and efficient computing model like i6mA-word2vec for the prediction of 6mA sites. Experimental results indicate that this computational model performs better.
INTELLIGENT COMPUTING THEORIES AND APPLICATION, ICIC 2022, PT II
(2022)
Correction
Cell & Tissue Engineering
Peng Ding, Qiyuan Tan, Zhanying Wei, Qiyu Chen, Chun Wang, Luyue Qi, Li Wen, Changqing Zhang, Chen Yao
Article
Biochemistry & Molecular Biology
Pei Liu, Youshui Gao, Pengbo Luo, Hongping Yu, Shang Guo, Fuyun Liu, Junjie Gao, Jianzhong Xu, Shengdian Wang, Changqing Zhang
Summary: Steroid-induced osteoporosis is fueled by immune cells involved in innate inflammatory responses, especially classical monocytes. Depletion of these cells can prevent bone loss and promote the growth of blood vessels that support bone formation.
EXPERIMENTAL AND MOLECULAR MEDICINE
(2022)
Article
Cell & Tissue Engineering
Peng Ding, Qiyuan Tan, Zhanying Wei, Qiyu Chen, Chun Wang, Luyue Qi, Li Wen, Changqing Zhang, Chen Yao
Summary: The study revealed that TLR9(-/-) mice exhibit low bone mass and chronic inflammation with increased levels of inflammatory cytokines, leading to enhanced osteoclastogenesis and bone loss. TLR9 deletion altered the gut microbiota, causing systemic inflammation and bone loss.