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71 results on '"Wu, Guanghong"'

52. TNXB Mutations Can Cause Vesicoureteral Reflux

Author

Gbadegesin, Rasheed A., primary, Brophy, Patrick D., additional, Adeyemo, Adebowale, additional, Hall, Gentzon, additional, Gupta, Indra R., additional, Hains, David, additional, Bartkowiak, Bartlomeij, additional, Rabinovich, C. Egla, additional, Chandrasekharappa, Settara, additional, Homstad, Alison, additional, Westreich, Katherine, additional, Wu, Guanghong, additional, Liu, Yutao, additional, Holanda, Danniele, additional, Clarke, Jason, additional, Lavin, Peter, additional, Selim, Angelica, additional, Miller, Sara, additional, Wiener, John S., additional, Ross, Sherry S., additional, Foreman, John, additional, Rotimi, Charles, additional, and Winn, Michelle P., additional

Published
2013
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56. Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis

Author

Gbadegesin, Rasheed A., primary, Lavin, Peter J., additional, Hall, Gentzon, additional, Bartkowiak, Bartlomiej, additional, Homstad, Alison, additional, Jiang, Ruiji, additional, Wu, Guanghong, additional, Byrd, Alison, additional, Lynn, Kelvin, additional, Wolfish, Norman, additional, Ottati, Carolina, additional, Stevens, Paul, additional, Howell, David, additional, Conlon, Peter, additional, and Winn, Michelle P., additional

Published
2012
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61. Determination of residues of pentachlorophenol and its sodium saltin aquatic product by gas chromatography using internalstandard method

Author

Wang Kai, Wu Guanghong, Zhu Xiao-hua, and Liang Qian

Subjects
Detection limit, Chinese mitten crab, Internal standard, Chromatography, Management, Monitoring, Policy and Law, Aquatic Science, Biology, biology.organism_classification, Sodium salt, Pentachlorophenol, Potassium carbonate, chemistry.chemical_compound, Acetic anhydride, chemistry, Gas chromatography, Ecology, Evolution, Behavior and Systematics
Abstract

The aim of this study was to reduce the loss of preliminary treatment of sample such as deriva-tives and emulsification,to enhance the maneuverability and accuracy of method,to promote the in stabil-ity of detection.Residues of pentachlorophenol and its sodium salt in edible tissues of crucian,freshwater shrimp,cod and chinese mitten crab were determined by gas chromatography using internal standard method.Such factors as derivation method,Whether n-hexane was blowed or not for pentachlorophenol and its sodium salt were compared in this paper.Moreover,the chromatographic conditions were surveyed and optimized for detection of the residues of pentachlorophenol and its sodium salt in edible tissues.The target compounds were first extracted two times with n-hexane in an acidic medium,and then back ex-tracted with potassium carbonate solution.The extract was derived with acetic anhydride,and the deriva-tive was extracted with n-hexane.The HP-5MS(30 m×0.32 mm×0.25 μm) column and the micro-cell elec-tron capture detector was used for the determination.This method chooses 2,4,6-TBP as internal standard substance.The working curves were linear(R2=0.9996) in the range of 0.2-20.0 μg/L.When spiked with 2.0,5.0,10.0,50.0 μg/kg of pentachlorophenol and 50 μg/kg of 2,4,6-tribromophenol,the average recov-eries were 85.8%-109.0% and the RSD were 0.8%-9.3%.The detection limit was 0.6 μg/kg.

Published
2012

62. A New Locus for Familial FSGS on Chromosome 2P

Author

Gbadegesin, Rasheed, primary, Lavin, Peter, additional, Janssens, Louis, additional, Bartkowiak, Bartlomiej, additional, Homstad, Alison, additional, Wu, Guanghong, additional, Bowling, Brandy, additional, Eckel, Jason, additional, Potocky, Chris, additional, Abbott, Diana, additional, Conlon, Peter, additional, Scott, William K., additional, Howell, David, additional, Hauser, Elizabeth, additional, and Winn, Michelle P., additional

Published
2010
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69. Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis

Author

Smith, Stephen R., Kalra, Philip A., Lindsey, Thomas B., Alonso, Andrea S., Sparks, Matthew A., Adeyemo, Adebowale A., Jiang, Ruiji, Gbadegesin, Rasheed A., Wu, Guanghong, Phelan, Paul J., Winn, Michelle P., Conlon, Peter J., Howell, David N., Homstad, Alison, Malone, Andrew F., Charles Jennette, J., Webb, Nicholas J.A., Shaw, Andrey S., Hall, Gentzon, and Cetincelik, Umran

Subjects
urogenital system, urologic and male genital diseases, female genital diseases and pregnancy complications, 3. Good health
Abstract

Focal segmental glomerulosclerosis (FSGS) is a histological lesion with many causes including inherited genetic defects with significant proteinuria being the predominant clinical finding at presentation. Mutations in COL4A3 and COL4A4 are known to cause Alport syndrome, thin basement membrane nephropathy, and to result in pathognomonic glomerular basement membrane findings. Secondary FSGS is known to develop in classic Alport Syndrome at later stages of the disease. Here, we present seven families with rare or novel variants in COL4A3 or COL4A4 (six with single and one with two heterozygous variants) from a cohort of 70 families with a diagnosis of hereditary FSGS. The predominant clinical findings at diagnosis were proteinuria associated with hematuria. In all seven families, there were individuals with nephrotic range proteinuria with histologic features of FSGS by light microscopy. In one family, electron microscopy showed thin glomerular basement membrane, but four other families had variable findings inconsistent with classical Alport nephritis. There was no recurrence of disease after kidney transplantation. Families with COL4A3 and COL4A4 variants that segregated with disease represent 10% of our cohort. Thus, COL4A3 and COL4A4 variants should be considered in the interpretation of next-generation sequencing data from such patients. Furthermore, this study illustrates the power of molecular genetic diagnostics in the clarification of renal phenotypes.

70. Dysregulation of WTI (-KTS) is Associated with the Kidney-Specific Effects of the LMX1B R246Q Mutation.

Author

Hall G, Lane B, Chryst-Ladd M, Wu G, Lin JJ, Qin X, Hauser ER, and Gbadegesin R

Subjects
Adolescent, Cell Line, Child, Child, Preschool, Chromosomes, Human, Pair 9 genetics, Female, Gene Expression Regulation, Genetic Linkage, Haploinsufficiency, Humans, Male, Pedigree, Exome Sequencing, Young Adult, Down-Regulation, LIM-Homeodomain Proteins genetics, Mutation, Missense, Nail-Patella Syndrome genetics, Nephritis, Hereditary genetics, Podocytes cytology, Transcription Factors genetics, WT1 Proteins genetics
Abstract

Mutations in the LIM homeobox transcription factor 1-beta (LMX1B) are a cause of nail patellar syndrome, a condition characterized by skeletal changes, glaucoma and focal segmental glomerulosclerosis. Recently, a missense mutation (R246Q) in LMX1B was reported as a cause of glomerular pathologies without extra-renal manifestations, otherwise known as nail patella-like renal disease (NPLRD). We have identified two additional NPLRD families with the R246Q mutation, though the mechanisms by which LMX1B R246Q causes a renal-specific phenotype is unknown. In this study, using human podocyte cell lines overexpressing either myc-LMX1B WT or myc-LMX1B R246Q , we observed dominant negative and haploinsufficiency effects of the mutation on the expression of podocyte genes such as NPHS1, GLEPP1, and WT1. Specifically, we observed a novel LMX1B R246Q -mediated downregulation of WT1(-KTS) isoforms in podocytes. In conclusion, we have shown that the renal-specific phenotype associated with the LMX1B R246Q mutation may be due to a dominant negative effect on WT1(-KTS) isoforms that may cause a disruption of the WT1 (-KTS):(+KTS) isoform ratio and a decrease in the expression of podocyte genes. Full delineation of the LMX1B gene regulon is needed to define its role in maintenance of glomerular filtration barrier integrity.

Published
2017
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71. [Simultaneous determination of 9 heterocyclic aromatic amine in poultry products by solid-phase extraction-high performance liquid chromatography].

Author

Shao B, Peng Z, Yang H, Wu G, Yao Y, and Wan K

Subjects
Animals, Carcinogens analysis, Food Analysis methods, Imidazoles analysis, Quinoxalines analysis, Solid Phase Extraction methods, Amines analysis, Chromatography, High Pressure Liquid methods, Food Contamination analysis, Heterocyclic Compounds analysis, Poultry Products analysis
Abstract

A method was developed for the simultaneous determination of 9 heterocyclic aromatic amines (HAAs) including 2-amino-3-methylimidazo[4,5-f] quinoline (IQ), 2-amino-3,4-dimethylimidazo[4, 5-f] quinoline (MeIQ), 2-amino-3, 8-dimethylimidazo [4, 5-f] quinoxaline (MeIQx), 2-amino-3, 4, 8-trimethyl-imidazo [4,5-f quinoxaline (4,8-DiMeIQx), 2-amino-1-methyl-6-phenylimidazo [4,5-b] pyridine (PhIP), 3-amino-1 -methyl-5H-pyrido [4, 3-b] indole (Trp-p-2), 3-amino-1, 4-dimethyl-5H-pyrido [4,3-b] indole (Trp-p-1), 9H-pyrido [3,4-b] indole (Norharman), 1-methyl-9H-pyrido 3, 4-b] indole (Harman)) in poultry products using solid-phase extraction-high performance liquid chromatography (SPE-HPLC). The performance of 3 different organic extraction solutions, 2 solid phase extraction (SPE) procedures, three different reversed-phase columns and five different mobile phases were tested for optimizing separation conditions of the 9 HAAs from poultry products. In the end, ethyl acetate was selected as the extraction solution, and the extract was purified with propylsulfonic acid silica (PRS) and C18 SPE columns. The analysis was performed on a TSK-gel ODS-80TM column using a gradient elution with the mobile phases of 0.05 mol/L aqueous acetic acid-ammonium acetate buffer (pH 3.4) and acetonitrile. The results showed that the average recoveries (n = 6) of the 9 HAAs spiked in meat samples at 3 levels ranged from 60.47% to 90.55% with the relative standard deviations (RSDs) between 0.49% and 9.74%, and the limits of detection (LODs, S/N = 3) were in the range of 0.1 - 3.6 microg/kg. The method is simple, rapid, accurate and sensitive enough for the analysis of HAAs in poultry products.

Published
2011

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