Article
Radiology, Nuclear Medicine & Medical Imaging
Atsuhiko Handa, Giedre Grigelioniene, Gen Nishimura
Summary: Type II collagenopathies are skeletal dysplasias caused by pathogenic variants in the COL2A1 gene, with associated vitreoretinal and hearing impairments. Radiologically, they can be divided into the SEDC and Kniest-Stickler groups.
Article
Genetics & Heredity
Qianwen Zhang, Ruen Yao, Qun Li, Xin Li, Biyun Feng, Guoying Chang, Jian Wang, Xiumin Wang
Summary: This study reported a case of type II collagenopathies in a Chinese male, confirming a novel homozygous variant of the COL2A1 gene through genetic sequencing. This is the first case of type II collagenopathies inherited in an autosomal recessive manner in China and East Asia, and it is the first case worldwide resulting from serine substitution.
BMC MEDICAL GENOMICS
(2021)
Article
Multidisciplinary Sciences
Till Joscha Demal, Tasja Scholz, Helke Schueler, Jakob Olfe, Anja Froehlich, Fabian Speth, Yskert von Kodolitsch, Thomas S. Mir, Hermann Reichenspurner, Christian Kubisch, Maja Hempel, Georg Rosenberger
Summary: This study reports novel gene mutations in four patients with a MASS-like phenotype, expanding the phenotypic spectrum of type II collagenopathies and suggesting an association between a MASS-like phenotype and various hereditary connective tissue disorders. Further research is needed to explore the pathomechanisms and genotype-phenotype correlations of identified COL2A1 variants.
SCIENTIFIC REPORTS
(2022)
Article
Genetics & Heredity
Meng-Che Tsai, Yen-Yin Chou, Chia-Yi Li, Yi-Chieh Wang, Hui-Wen Yu, Chia-Hsiang Chen, Peng-Chieh Chen
Summary: Collagenopathy is a rare genetic condition characterized by abnormalities in collagen structure or metabolism, with whole exome sequencing being a fast and accurate method to identify genetic causes in most cases. Multiple genetic characterizing technologies can provide an accurate and efficient molecular diagnostic of new genetic variants in disease-causing genes that are compatible with clinical phenotypes.
FRONTIERS IN GENETICS
(2021)
Article
Multidisciplinary Sciences
Isabella C. Galvao, Ludmyla Kandratavicius, Lauana A. Messias, Maria C. P. Athie, Guilherme R. Assis-Mendonca, Marina K. M. Alvim, Enrico Ghizoni, Helder Tedeschi, Clarissa L. Yasuda, Fernando Cendes, Andre S. Vieira, Fabio Rogerio, Iscia Lopes-Cendes, Diogo F. T. Veiga
Summary: This study analyzed the cellular composition of brain lesions in patients with FCD IIa and IIb subtypes using cell-type deconvolution and single-cell signatures. The findings revealed differential neuronal and glial compositions in FCD II subtypes, with astrogliosis emerging as a hallmark of FCD IIb. These findings offer novel insights into the involvement of glial cells in FCD type II pathophysiology and may contribute to the development of targeted therapies for this condition.
SCIENTIFIC REPORTS
(2023)
Article
Clinical Neurology
Chenmin He, Lingqi Ye, Cong Chen, Lingli Hu, Bo Jin, Yao Ding, Hong Li, Meiping Ding, Shan Wang, Shuang Wang
Summary: This study found that hippocampal malrotation (HIMAL) is common in patients with epilepsy caused by focal cortical dysplasia (FCD) as well as in healthy controls, but it may be less significant in FCD-related epilepsy.
FRONTIERS IN NEUROLOGY
(2022)
Article
Cell Biology
Taiki Abe, Shin-ichiro Kanno, Tetsuya Niihori, Miho Terao, Shuji Takada, Yoko Aoki
Summary: Leucine zipper-like transcriptional regulator 1 (LZTR1) plays a crucial role in the proteostasis of the RAS subfamily. Deficiency of LZTR1 increases tumor growth and metastasis by promoting cell proliferation, invasion, and collagen secretion. The lack of LZTR1 also affects signaling pathways related to tumor progression and alters the expression of genes involved in epithelial-mesenchymal transition (EMT) and extracellular matrix (ECM) remodeling.
CELL DEATH & DISEASE
(2023)
Article
Gastroenterology & Hepatology
Angela Ting-Wei Hsu, Ya-Ching Hung, Sandy H. Fang, Christopher R. D'Adamo, Arun A. Mavanur, Shane M. Svoboda, Joshua H. Wolf
Summary: The study found that patients with type 2 diabetes mellitus who were diagnosed with AIN had a 56% lower likelihood of prior metformin use compared to those without AIN. This suggests that metformin may play a protective role against the development of AIN.
COLORECTAL DISEASE
(2021)
Article
Clinical Neurology
Stefan Rampp, Karl Rossler, Hajo Hamer, Margit Illek, Michael Buchfelder, Arnd Doerfler, Tom Pieper, Till Hartlieb, Manfred Kudernatsch, Konrad Koelble, Jose Eduardo Peixoto-Santos, Ingmar Blumcke, Roland Coras
Summary: This study demonstrated correlations between dysmorphic neurons and neurophysiological markers, identifying their role in seizure onset, fast gamma activity, and ripples, providing a new tool for localizing epileptic activity in the human brain.
CLINICAL NEUROPHYSIOLOGY
(2021)
Article
Clinical Neurology
Baotian Zhao, Chao Zhang, Xiu Wang, Yao Wang, Chang Liu, Jiajie Mo, Zhong Zheng, Kai Zhang, Xiao-Qiu Shao, Wenhan Hu, Jianguo Zhang
Summary: The study concludes that sulcus-centered resection is an effective and safe surgical strategy for carefully selected FCD II cases, with majority of patients remaining seizure free after surgery but some experiencing permanent neurological deficits.
JOURNAL OF NEUROSURGERY
(2021)
Article
Clinical Neurology
Emma Macdonald-Laurs, Aaron E. L. Warren, Wei Shern Lee, Joseph Yuan-Mou Yang, Duncan MacGregor, Paul J. Lockhart, Richard J. Leventer, Andrew Neal, A. Simon Harvey
Summary: The distribution of epileptogenicity and dysplasia in and around bottom-of-sulcus dysplasia (BOSD) was assessed to better understand the clinical outcome and optimal surgical approach. The study found that dysplasia and intrinsic epileptogenicity are mostly limited to the dysplastic sulcus, and abnormalities in surrounding cortex are secondary phenomena.
Article
Neurosciences
Yijie Shao, Qianqian Ge, Jiachao Yang, Mi Wang, Yu Zhou, Jin-Xin Guo, Mengyue Zhu, Jiachen Shi, Yiqi Hu, Li Shen, Zhong Chen, Xiao-Ming Li, Jun-Ming Zhu, Jianmin Zhang, Shumin Duan, Jiadong Chen
Summary: This study found that upper layer dysmorphic neurons in type II FCD exhibit distinct morphological and electrophysiological characteristics compared to normal neurons. These include enlarged soma, aberrant dendrites, reduced action potential firing frequency, and an imbalance of synaptic excitation and inhibition with decreased glutamatergic and increased GABAergic inputs. These findings suggest that the dysmorphic neurons play a role in the development of drug-resistant epilepsy in FCD.
NEUROSCIENCE BULLETIN
(2022)
Article
Multidisciplinary Sciences
Timothy C. R. Prickett, Eric A. Espiner, Melita Irving, Carlos Bacino, John A. Phillips, Ravi Savarirayan, Jonathan R. S. Day, Elena Fisheleva, Kevin Larimore, Ming Liang Chan, George S. Jeha
Summary: Research indicates that plasma concentrations of CNP are regulated in Ach children receiving Vosoritide treatment, showing significant fluctuations. While CNP levels decrease significantly in the early stages of treatment, they may increase rapidly during sustained growth periods.
SCIENTIFIC REPORTS
(2021)
Article
Neuroimaging
Kathryn Snyder, Emily P. Whitehead, William H. Theodore, Kareem A. Zaghloul, Souheil J. Inati, Sara K. Inati
Summary: This study uses 3D local image filters to characterize normal cortical appearance on MRI, creating a normative model for automated FCD detection using a constrained outlier approach. Results show that both FCDs and certain normal cortical regions appear as outliers, with the method achieving 80% sensitivity and 70% specificity.
NEUROIMAGE-CLINICAL
(2021)
Article
Chemistry, Organic
Andreas Mavroskoufis, Arielle Rieck, Matthew N. Hopkinson
Summary: The photochemical reactivity of acyl azolium salts derived from aliphatic carboxylic acids was investigated, showing Norris type II elimination reactions and Norris-Yang cyclization under UVA light irradiation. These results demonstrate the influence of NHCs on the absorption properties and photochemical reactivity of carbonyl groups during a catalytic cycle.
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
Chemistry, Multidisciplinary
Yue Fu, Heyu Chen, Wenzhen Fu, Marc Garcia-Borras, Yang Yang, Peng Liu
Summary: New-to-nature radical biocatalysis has emerged as a powerful strategy for stereoselective transformations, with a novel metalloredox biocatalysis leveraging the heme cofactor of P450 enzymes to enable excellent activity and stereoselectivity. Computational and experimental studies shed light on the mechanism and enantioselectivity origins, revealing a bifunctional ATRCase with unexpectedly beneficial mutation I263Q enhancing radical cyclization enantioselectivity through a hydrogen bond donor residue.
JOURNAL OF THE AMERICAN CHEMICAL SOCIETY
(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.
Review
Cell & Tissue Engineering
Lijun Wang, Xiuling You, Lingli Zhang, Changqing Zhang, Weiguo Zou
Summary: Bone remodeling is a lifelong process that involves a balance between bone formation and resorption. Mechanical forces play a crucial role in maintaining bone homeostasis, and loss of mechanical stimulation can weaken the bone structure and increase the risk of fracture. Understanding the mechanisms by which the body senses and transduces mechanical forces is important for studying bone disorders and developing strategies for skeletal rejuvenation.
Article
Genetics & Heredity
Xiangge Meng, Chengping Li, Yu Hei, Xiang Zhou, Guoli Zhou
Summary: The study used IVT-SAPAS sequencing to analyze the dynamic changes of APA sites during adipogenesis in bovine subcutaneous preadipocytes and intramuscular preadipocytes. The results showed that APA plays an important role in adipocyte differentiation, and UTR-APA switching genes have different trends, with intramuscular preadipocytes tending to use shorter 3'UTR for differentiation. TRIB3, WWTR1, and INSIG1 play important roles in intramuscular preadipocyte differentiation.
Article
Genetics & Heredity
S. Alizadeh, S. Khamse, N. Tajeddin, H. R. Khorram Khorshid, A. Delbari, M. Ohadi
Summary: This study identifies a specific genotype at a CG-rich trinucleotide short tandem repeat (STR) locus that is associated with late-onset neurocognitive disorders such as Alzheimer's disease (AD).
Article
Genetics & Heredity
Shougang Liu, Zhe Zhuang, Fanghua Liu, Xiuqing Yuan, Zeqiao Zhang, Xiaoqian Liang, Xinhui Li, Yongfeng Chen
Summary: This study investigated the effect and mechanism of RPL9 and TIFA in scalp psoriasis, and identified RPL9 as a potential therapeutic target for scalp psoriasis.
Article
Genetics & Heredity
Shiting Wang, Jiaqi Chen, Zhichao Jin, Ying Xing, Ruiping Wang
Summary: This study suggests a causal association between hair color and skin cancers, with light hair colors (red, blonde, and light brown) being associated with an increased risk and dark brown hair being associated with a decreased risk.
Article
Genetics & Heredity
Joseph Hawadak, Loick Pradel Kojom Foko, Rodrigue Roman Dongang Nana, Karmveer Yadav, Veena Pande, Aparup Das, Vineeta Singh
Summary: This study investigates the genetic diversity and natural selection of the Pfama-1 gene in Plasmodium falciparum isolates from Cameroon. The study finds a considerable nucleotide and haplotype diversity, as well as specific mutations in Cameroonian isolates. Positive diversifying selection and the identification of selected codon sites suggest the potential implication of these genetic variations in host immune pressure and parasite-binding complex modulation. The findings provide valuable baseline data for malaria vaccine design.
Article
Genetics & Heredity
Emily Biernat, Mansi Verma, Chhabi K. Govind
Summary: RSC is an essential ATP-dependent chromatin remodeling complex in Saccharomyces cerevisiae. It regulates nucleosome-depleted regions (NDRs) by sliding flanking nucleosomes away from NDRs. Depletion of RSC leads to nucleosome encroachment in NDRs and transcription initiation defects. The study compared the effects of catalytic-dead Sth1 and rapid depletion of Sth1 on transcription. Rapid depletion of Sth1 reduces recruitment of TBP and Pol II, while the catalytic-dead mutant exhibits a severe reduction in TBP binding but accumulates Pol II in coding regions. The results suggest a role for RSC in transcription elongation and termination processes.
Article
Genetics & Heredity
Yunxiao Wei, Yuhan Song, Muhammad Aamir Khan, Chengzhen Liang, Zhigang Meng, Yuan Wang, Sandui Guo, Rui Zhang
Summary: This study analyzed the GhTPP protein family in upland cotton for the first time and identified the important role of GhTPPA_2 in regulating sugar metabolism, improving soluble sugar accumulation, and drought stress tolerance.
Article
Genetics & Heredity
Yannan Geng, Rui Shao, Tiantong Xu, Lilong Zhang
Summary: A novel risk model based on SCUBE3, TNNC1, SPON1, SEPT12 and ULBP1 genes was developed for predicting PMOP risk, with higher risk score indicating higher risk of suffering from PMOP. Significant differences in signaling pathway activities were observed between the high-risk score group and the low-risk score group.
Article
Genetics & Heredity
Randy P. Williams, Corina Lesseur, Haoxiang Cheng, Qian Li, Maya Deyssenroth, Christopher D. Molteno, Ernesta M. Meintjes, Sandra W. Jacobson, Joseph L. Jacobson, Helen Wainwright, Ke Hao, Jia Chen, R. Colin Carter
Summary: The study suggests that heavy alcohol exposure during pregnancy may impact the proportion of fetal placental villi macrophages and increase the expression of inflammatory genes. Further research is needed to explore these effects and evaluate the potential functional roles of placental inflammation in FASD.
Article
Genetics & Heredity
Lvjing Luo, Lishuang Sun, Shu Li, Huiting Liu, Zhengyu Chen, Shi Huang, Yinyin Mo, Genliang Li
Summary: This study analyzed the expression of Ptpn1 and miR-124-3p in testicular tissues of mice and investigated their regulatory relationship. The results showed that Ptpn1 expression was up-regulated in adult mouse testis compared to juvenile mouse testis, while miR-124-3p expression showed an opposite pattern. Further analysis suggested that the down-regulation of miR-124-3p may contribute to the high expression of Ptpn1 in adult mouse testis.
Article
Genetics & Heredity
Gairui Li, Dan Zhao, Xiaolin Peng, Yashuang Zhao
Summary: MiRNA-22 shows potential as a candidate for early diagnosis of colorectal cancer (CRC). The study found higher miR-22 expression levels in the CRC and CRA groups, suggesting its potential as a biomarker for CRC early screening.
Article
Genetics & Heredity
Zhongqiu Zhu, Qianting Yang, Xiaoying Tian, Da Man, Jian Wang, Junfang Zhang, Bingshe Han
Summary: This study constructed a ceRNA network mediated by lncRNAs in cold-acclimated zebrafish ZF4 cells and revealed that upregulation of MSTRG3207 promotes apoptosis by sponging dre-miR-736 during cold acclimation.
Article
Genetics & Heredity
Weitao Chen, Denggao Xiang, Shang Gao, Shuli Zhu, Zhi Wu, Yuefei Li, Jie Li
Summary: Dam construction has negatively impacted the genetic diversity and structure of fish populations. This case study on the endangered Hemibagrus guttatus found low genetic diversity, high levels of inbreeding, and decreasing population size in fragmented populations. Genetic structure and differentiation were also observed, indicating the influence of dams on these fish populations.
Article
Genetics & Heredity
Pooja Singh, Debleena Guin, Bijay Pattnaik, Ritushree Kukreti
Summary: Through systematic literature review and meta-analysis, it was found that idiopathic pulmonary fibrosis is significantly associated with 222 polymorphisms in 118 genes. Four polymorphisms - rs35705950/MUC5B, rs2736100/TERT, rs2076295/DSP, and rs111521887/TOLLIP, exhibited substantial epidemiological evidence supporting their association with IPF risk.
Article
Genetics & Heredity
Jianping Zhang, Zhijun Cai, Fanzhe Feng, Yufeng Peng, Yi Cui, Yongiqing Xu
Summary: This study found that exosomes secreted by young BMSCs can promote the healing of tendon-bone interface after rotator cuff tears. These exosomes can improve extracellular matrix remodeling, osteogenic differentiation, angiogenesis, and stemness of tendon-derived stem cells (TDSCs). The exosomes from young BMSCs have better effects compared to those from aged BMSCs.
