Department of Nephrology,
The Children's Hospital,
Department of Nephrology, The Children's Hospital
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Establishment of an induced pluripotent stem cell line (NCKDi003-A) from a patient with X-linked Dent disease (X-Dent) carrying the hemizygote mutation p. T277P (c. 829A > C) in the CLCN5 gene.
Stem cell research Oct, 2021 | Pubmed ID: 34547705
Bacterial and Fungal Infections Promote the Bone Erosion Progression in Acquired Cholesteatoma Revealed by Metagenomic Next-Generation Sequencing.
Frontiers in microbiology , 2021 | Pubmed ID: 34803987
Cataract-Causing S93R Mutant Destabilized Structural Conformation of βB1 Crystallin Linking With Aggregates Formation and Cellular Viability.
Frontiers in molecular biosciences , 2022 | Pubmed ID: 35359596
A novel cataract-causing mutation Ile82Met of γA crystallin trends to aggregate with unfolding intermediate.
International journal of biological macromolecules Jun, 2022 | Pubmed ID: 35513103
Stress granules in the spinal muscular atrophy and amyotrophic lateral sclerosis: The correlation and promising therapy.
Neurobiology of disease Aug, 2022 | Pubmed ID: 35568100
A protocol for the generation of patient-specific iPSC lines from peripheral blood mononuclear cells.
STAR protocols Sep, 2022 | Pubmed ID: 35834385
Clinical Metagenomic Next-Generation Sequencing for Diagnosis of Secondary Glaucoma in Patients With Cytomegalovirus-Induced Corneal Endotheliitis.
Frontiers in microbiology , 2022 | Pubmed ID: 35865935
Heteromeric formation with βA3 protects the low thermal stability of βB1-L116P.
The British journal of ophthalmology Sep, 2022 | Pubmed ID: 36126102
Clinical characteristics and in silico analysis of congenital pseudarthrosis of the tibia combined with neurofibromatosis type 1 caused by a novel mutation.
Frontiers in genetics , 2022 | Pubmed ID: 36246612
Clinical Characteristics and In Silico Analysis of Cystinuria Caused by a Novel Mutation.
Genes Nov, 2022 | Pubmed ID: 36421847
Cysteine Pathogenic Variants of PMM2 Are Sensitive to Environmental Stress with Loss of Structural Stability.
Oxidative medicine and cellular longevity , 2023 | Pubmed ID: 36743691
Metabolomic profiles in serum and urine uncover novel biomarkers in children with nephrotic syndrome.
European journal of clinical investigation Jul, 2023 | Pubmed ID: 36856027
Cross-cancer pleiotropic analysis identifies three novel genetic risk loci for colorectal cancer.
Human molecular genetics Jun, 2023 | Pubmed ID: 36928917
N6-methyladenosine related gene expression signatures for predicting the overall survival and immune responses of patients with colorectal cancer.
Frontiers in genetics , 2023 | Pubmed ID: 36936424
Multiple functions of stress granules in viral infection at a glance.
Frontiers in microbiology , 2023 | Pubmed ID: 36937261
Determinants of depression, problem behavior, and cognitive level of adolescents in China: Findings from a national, population-based cross-sectional study.
Frontiers in psychiatry , 2023 | Pubmed ID: 37091712
Cataract-causing variant Q70P damages structural stability of βB1-crystallin and increases its tendency to form insoluble aggregates.
International journal of biological macromolecules Jul, 2023 | Pubmed ID: 37148932
A quantitative planar array screen of 440 proteins uncovers novel serum protein biomarkers of idiopathic nephrotic syndrome.
MedComm Jun, 2023 | Pubmed ID: 37180824
Early onset of nephrogenic diabetes insipidus due to fabry disease in a child with N215S mutation: Case report and literature review.
Heliyon May, 2023 | Pubmed ID: 37205992
Network pharmacology and biochemical experiments reveal the antiapoptotic mechanism of huperzine A for treating diabetic retinopathy.
The British journal of ophthalmology Jun, 2023 | Pubmed ID: 37339867
Health-related quality of life of children with Williams syndrome and caregivers in China.
Frontiers in public health , 2023 | Pubmed ID: 37361163
A Review of Inactivated COVID-19 Vaccine Development in China: Focusing on Safety and Efficacy in Special Populations.
Vaccines May, 2023 | Pubmed ID: 37376434
Inhibition of squalene epoxidase linking with PI3K/AKT signaling pathway suppresses endometrial cancer.
Cancer science Jul, 2023 | Pubmed ID: 37438885
Atopic dermatitis and chronic kidney disease: a bidirectional Mendelian randomization study.
Frontiers in medicine , 2023 | Pubmed ID: 37441684
Low skeletal muscle mass as an early sign in children with fabry disease.
Orphanet journal of rare diseases Jul, 2023 | Pubmed ID: 37480128
Cysteine mutations impair the structural stability of phosphomannomutase 2 (PMM2) in glycosylation-associated metabolic disorders.
Genes & diseases Sep, 2023 | Pubmed ID: 37492729
The 18th amino acid glycine plays an essential role in maintaining the structural stabilities of γS-crystallin linking with congenital cataract.
International journal of biological macromolecules Aug, 2023 | Pubmed ID: 37586630
Cataract-causing mutations S78F and S78P of γD-crystallin decrease protein conformational stability and drive aggregation.
International journal of biological macromolecules Sep, 2023 | Pubmed ID: 37739288
Langping Gao*,1,2,
Yue Wang*,3,
Gang Wang4,
Hangdi Wu2,
Qingtao Yan1,
Jingjing Wang1,
Fei Liu1,
Haidong Fu1,
Wei Li5,
Lidan Hu1,
Jianhua Mao1,2
1Department of Nephrology, The Children's Hospital, Zhejiang University School of Medicine,
2, Zhejiang University School of Medicine,
3, Hubei Normal University,
4National Clinical Research Center of Kidney Diseases, Jinling Hospital, Nanjing University School of Medicine,
5Clinical Laboratory, The Children’s Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health
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