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| 1 | Simple diffusion delivery via brain interstitial route for the treatment of cerebral ischemia显示文摘Delivering pharmacologic agents directly into the brain has been proposed as a means of bypassing the blood brain barrier.However,despite 16 years of research on a number of central nervous system disorders,an effective treatment using this strategy has only been observed in the brain tumor glioblastoma multiforme.Within this study we propose a novel system for delivering drugs into the brain named the simple diffusion (SDD) system.To validate this technique,rats were subjected to a single intracranial (at the caudate nucleus),or intraperitoneal injection,of the compound citicoline,followed two hours later by a permanent middle cerebral artery occlusion (pMCAO).Results showed that 12 h after pMCAO,with 0.0025 g kg-1 citicoline,an infarct volume 1/6 the size of the intraperitoneal group was achieved with a dose 1/800 of that required for the intraperitoneal group.These results suggest that given the appropriate injection point,through SDD a pharmacologically effective concentration of citicoline can be administered. | HAN HongBin XIA ZuoLi CHEN He HOU Chao LI WeiBo | 2011 | Science China(Life Sciences)2011，54，3： | 24 |
| 2 | Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets显示文摘Hereditary vitamin D-resistant rickets(HVDRR) is a rare autosomal recessive disorder characterized by severe rickets,hypocalcemia,hypophosphatemia,secondary hyperparathyroidism,and elevated alkaline phosphatase.This disorder is caused by homogeneous or heterogeneous mutations affecting the function of the vitamin D receptor(VDR),which lead to complete or partial target organ resistance to the action of 1,25-dihydroxy vitamin D.A non-consanguineous family of Chinese Han origin with one affected individual demonstrating HVDRR was recruited,with the proband evaluated clinically,biochemically and radiographically.To identify the presence of mutations in the VDR gene,all the exons and exon–intron junctions of the VDR gene from all family members were amplified using PCR and sequenced.The proband showed rickets,progressive alopecia,hypocalcemia,hypophosphatemia,secondary hyperparathyroidism,and elevated alkaline phosphatase.She also suffered from epilepsy,which is rarely seen in patients with HVDRR.Direct sequencing analysis revealed a homozygous missense mutation c.122G4A(p.C41Y) in the VDR gene of the proband,which is located in the first zinc finger of the DNA-binding domain.Both parents had a normal phenotype and were found to be heterozygous for this mutation.We report a Chinese Han family with one individual affected with HVDRR.A homozygous missense mutation c.122G4A(p.C41Y) in the VDR gene was found to be responsible for the patient's syndrome.In contrast to the results of treatment of HVDRR in other patients,our patient responded well to a supplement of oral calcium and a low dose of calcitriol. | Qianqian Pang Xuan Qi Yan Jiang Ou Wang Mei Li Xiaoping Xing Jin Dong Weibo Xia | 2016 | Bone Research2016，4，1： | 9 |
| 3 | FGF23 and Phosphate Wasting Disorders显示文摘A decade ago,only two hormones,parathyroid hormone and 1,25(OH)2D,were widely recognized to direct-ly affect phosphate homeostasis.Since the discovery of fibroblast growth factor 23(FGF23) in 2000(1),our understanding of the mechanisms of phosphate homeostasis and of bone mineralization has grown exponentially.FGF23 is the link between intestine,bone,and kidney together in phosphate regulation.However,we still do not know the complex mechanism of phosphate homeostasis and bone mineralization.The physiological role of FGF23 is to regulate serum phosphate.Secreted mainly by osteocytes and osteo-blasts in the skeleton(2-3),it modulates kidney handling of phosphate reabsorption and calcitriol produc-tion.Genetic and acquired abnormalities in FGF23 structure and metabolism cause conditions of either hyper-FGF23 or hypo-FGF23.Hyper-FGF23 is related to hypophosphatemia,while hypo-FGF23 is related to hyperphosphatemia.Both hyper-FGF23 and hypo-FGF23 are detrimentalto humans.In this review,we will discuss the pathophysiology of FGF23 and hyper-FGF23 related renal phosphate wasting disorders(4). | Xianglan Huang Yan Jiang Weibo Xia | 2013 | Bone Research2013，1，2： | 9 |
| 4 | An inferred functional impact map of genetic variants in rice显示文摘Interpreting the functional impacts of genetic variants(GVs)is an important challenge for functional genomic studies in crops and next-generation breeding.Previous studies in rice(Oryza sativa)have focused mainly on the identification of GVs,whereas systematic functional annotation of GVs has not yet been performed.Here,we present a functional impact map of GVs in rice.We curated haplotype information for 17397026 GVs from sequencing data of 4726 rice accessions.We quantitatively evaluated the effects of missense mutations in coding regions in each haplotype based on the conservation of amino acid residues and obtained the effects of 918848 non-redundant missense GVs.Furthermore,we generated high-quality chromatin accessibility(CA)data from six representative rice tissues and used these data to train deep convolutional neural network models to predict the impacts of 5067405 GVs for CA in regulatory regions.We characterized the functional properties and tissue specificity of the GV effects and found that large-effect GVs in coding and regulatory regions may be subject to selection in different directions.Finally,we demonstrated how the functional impact map could be used to prioritize causal variants in mapping populations.This impact map will be a useful resource for accelerating gene cloning and functional studies in rice,and can be freely queried in RiceVarMap V2.0(http://gffzz90f9113514c343b0hx6pkuww5o5fn60on.ffgz.tsg.suse.edu.cn). | Hu Zhao Jiacheng Li Ling Yang Gang Qin Chunjiao Xia Xingbing Xu Yangmeng Su Yinmeng Liu Luchang Ming Ling-Ung Chen Lizhong Xiong Weibo Xie | 2021 | Molecular Plant2021，14，9： | 3 |
| 5 | Bract suppression regulated by the miR156/529-SPLs-NL1-PLA1 module is required for the transition from vegetative to reproductive branching in rice显示文摘Reproductive transition of grasses is characterized by switching the pattern of lateral branches,featuring the suppression of outgrowth of the subtending leaves(bracts)and rapid formation of higher-order branches in the inflorescence(panicle).However,the molecular mechanisms underlying such changes remain largely unknown.Here,we show that bract suppression is required for the reproductive branching in rice.We identified a pathway involving the intrinsic time ruler microRNAI56/529,their targets SQUAMOSA PROMOTER BINDING PROTEIN LIKE(SPL)genes,NECK LEAF1(NL1),and PLASTOCHRON1(PLA1),which regulates the bract outgrowth and thus affects the pattern switch between vegetative and reproductive branching.Suppression of the bract results in global reprogramming of transcriptome and chromatin accessibility following the reproductive transition,while these processes are largely dysregu-lated in the mutants of these genes.These discoveries contribute to our understanding of the dynamic plant architecture and provide novel insights for improving crop yields. | Lei Wang Luchang Ming Keyan Liao Chunjiao Xia Shengyuan Sun Yu Chang Hongkai Wang Debao Fu Conghao Xu Zhengji Wang Xu Li Weibo Xie Yidan Ouyang Qinglu Zhang Xianghua Li Qinghua Zhang Jinghua Xiao Qifa Zhang | 2021 | Molecular Plant2021，14，7： | 2 |
| 6 | Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature显示文摘Short stature is among the most common endocrinological disease phenotypes of childhood and may occur as an isolated finding or in conjunction with other clinical manifestations.Although the diagnostic utility of clinical genetic testing in short stature has been implicated,the genetic architecture and the utility of genomic studies such as exome sequencing(ES)in a sizable cohort of patients with short stature have not been investigated systematically.In this study,we recruited 561 individuals with short stature from two centers in China during a 4-year period.We performed ES for all patients and available parents.All patients were retrospectively divided into two groups:an isolated short stature group(group I,n=257)and an apparently syndromic short stature group(group II,n=304).Causal variants were identified in 135 of 561(24.1%)patients.In group I,29 of 257(11.3%)of the patients were solved by variants in 24 genes.In group II,106 of 304(34.9%)patients were solved by variants in 57 genes.Genes involved in fundamental cellularprocess played an important role in the genetic architecture of syndromic short stature.Distinct genetic architectures and pathophysiological processes underlie isolated and syndromic short stature. | Xin Fan Sen Zhao Chenxi Yu Di Wu Zihui Yan Lijun Fan Yanning Song Yi Wang Chuan Li Yue Ming Baoheng Gui Yuchen Niu Xiaoxin Li Xinzhuang Yang Shiyu Luo Qiang Zhang Xiuli Zhao Hui Pan Mei Li Weibo Xia Guixing Qiu Pengfei Liu Shuyang Zhang Jianguo Zhang Zhihong Wu James R.Lupski Jennifer E.Posey Shaoke Chen Chunxiu Gong Nan Wu | 2021 | Journal of Genetics and Genomics2021，48，5： | 2 |
| 7 | Three Novel mutations of the PHEX gene in three Chinese families with X-linked dominant hypophosphatemic rickets 显示文摘 | Xia Weibo Meng Xunwu Jiang Yan | 2007 | Calcif Tissue Int2007，81，： | 1 |
| 8 | Diode-pumpedcw Nd∶YAG three-level laser at 869 nm显示文摘 | Yanfei Lü Jing Xia Weibo Cheng | 2010 | Optics Let-ters2010，35，21： | 1 |
| 9 | Atypical skeletal manifestations of rickets in a familial hypocalciuric hypercalcemia patient显示文摘Familial hypocalciuric hypercalcemia(FHH) is caused by inactivating mutations in the calcium-sensing receptor(Ca SR) gene. The loss of function of Ca SR presents with rickets as the predominant skeletal abnormality in mice, but is rarely reported in humans. Here we report a case of a 16-year-old boy with FHH who presented with skeletal manifestations of rickets. To identify the possible pathogenic mutation, the patient was evaluated clinically, biochemically, and radiographically. The patient and his family members were screened for genetic mutations. Physical examination revealed a pigeon breast deformity and X-ray examinations showed epiphyseal broadening, both of which indicate rickets. Biochemical tests also showed increased parathyroid hormone(PTH), 1,25-dihydroxyvitamin D, and elevated ionized calcium. Based on these results, a diagnosis of FHH was suspected. Sequence analysis of the patient's Ca SR gene revealed a new missense mutation(c.2279 T4 A) in exon 7, leading to the damaging amino change(p.I760 N) in the mature Ca SR protein, confirming the diagnosis of FHH. Moreover, the skeletal abnormities may be related to but not limited to vitamin D abnormity. Elevated PTH levels and a rapid skeletal growth period in adolescence may have also contributed. Our study revealed that rickets-like features have a tendency to present atypically in FHH patients who have a mild vitamin D deficiency, and that Ca SR mutations may have a partial role in the pathogenesis of skeletal deformities. | Bo Wu Ou Wang Yan Jiang Mei Li Xiaoping Xing Weibo Xia | 2017 | Bone Research2017，5，3： | 1 |
| 10 | Protocol for Brain Magnetic Resonance Imaging and Extraction of Imaging‑Derived Phenotypes from the China Phenobank Project显示文摘Imaging-derived phenotypes(IDPs)have been increasingly used in population-based cohort studies in recent years.As widely reported,magnetic resonance imaging(MRI)is an important imaging modality for assessing the anatomical structure and function of the brain with high resolution and excellent soft-tissue contrast.The purpose of this article was to describe the imaging protocol of the brain MRI in the China Phenobank Project(CHPP).Each participant underwent a 30-min brain MRI scan as part of a 2-h whole-body imaging protocol in CHPP.The brain imaging sequences included T1-magnetization that prepared rapid gradient echo,T2 fuid-attenuated inversion-recovery,magnetic resonance angiography,difusion MRI,and resting-state functional MRI.The detailed descriptions of image acquisition,interpretation,and post-processing were provided in this article.The measured IDPs included volumes of brain subregions,cerebral vessel geometrical parameters,microstructural tracts,and function connectivity metrics. | Chengyan Wang Zhang Shi Yan Li Xueqin Xia Xutong Kuang Shufang Qian Le Xue Lizhen Lan Yudan Wu Na Zhang Ji Tao Xumei Hu Wenzhao Cao Naying He Yike Guo Weibo Chen Jun Zhang Jingchun Luo He Wang Mei Tian | 2023 | Phenomics2023，3，6： | 0 |
| 11 | An adult patient of X-linked hypophosphatemia with joint manifestation mimicking spondylarthritis显示文摘To the Editor:X-linked hypophosphatemia(XLH)is a rare hereditary metabolic disorder characterized by hypophos-phatemic rickets associated with phosphate wasting.[1]It is caused by a loss-of-function mutation in the PHEX(Phosphate regulating gene with Homology to Endopepti-dases located on the X chromosome)gene.[2]The clinical manifestations of the adult patient are usually not specific,often including bone pain,muscle weakness,and so on. | Chuhan Wang Jiuliang Zha Hongbo Yang Yan Jiang Yan Zha Weibo Xia | 2022 | Chinese Medical Journal2022，，10： | 0 |
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