Results 201 to 210 of about 628,301 (302)

Gene-Disease Relationships in Kidney Genetics

Seminars in Nephrology
Gitau, Vanessa, Ratliff, Julie, Webb, Ryan, Mallett, Andrew, Ajuyah, Pamela   +4 more
openaire   +2 more sources

Genetic diseases of the kidney [PDF]

Nephrology Dialysis Transplantation, 2006
openaire   +1 more source

Genetics in chronic kidney disease

Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as well as genes for complex kidney diseases that manifest in combination with environmental factors, have been discovered. Genetic findings are increasingly used to inform clinical management of nephropathies, and have led to improved diagnostics, disease surveillance,
Köttgen, Anna||, Cornec-Le Gall, Emilie||, Halbritter, Jan||, Kiryluk, Krzysztof||, Mallett, Andrew J.||, Parekh, Rulan||, Rasouly, Hila Milo, Sampson, Matthew G.||, Tin, Adrienne, Antignac, Corinne||, Ars, Elisabet||, Bergmann, Carsten, Bleyer, Anthony J., Bockenhauer, Detlef, Devuyst, Olivier||, Florez, Jose C., Fowler, Kevin J., Franceschini, Nora||, Fukagawa, Masafumi, Gale, Daniel||, Gbadegesin, Rasheed A., Goldstein, David B., Grams, Morgan E., Greka, Anna||, Gross, Oliver||, Guay-Woodford, Lisa M., Harris, Peter C., Hoefele, Julia||, Hung, Adriana M., Knoers, Nine V.A.M., Kopp, Jeffrey B., Kretzler, Matthias||, Lanktree, Matthew B., Lipska-Ziętkiewicz, Beata S.||, Nicholls, Kathleen, Nozu, Kandai||, Ojo, Akinlolu, Parsa, Afshin, Pattaro, Cristian||, Pei, York, Pollak, Martin R., Rhee, Eugene P., Sanna-Cherchi, Simone||, Savige, Judy||, Sayer, John||, Scolari, Francesco, Sedor, John R., Sim, Xueling||, Somlo, Stefan||, Susztak, Katalin, Tayo, Bamidele O., Torra Balcells, Roser||, van Eerde, Albertien M.||, Weinstock, André, Winkler, Cheryl A., Wuttke, Matthias||, Zhang, Hong, King, Jennifer M., Cheung, Michael, Jadoul, Michel, Winkelmayer, Wolfgang C., Gharavi, Ali G.   +61 more
openaire   +1 more source

N, S Co‐Doped Carbon Quantum Dots‐Riboflavin Composite Photosensitizers for Enhanced Iontophoresis‐Assisted Corneal Cross‐Linking

Advanced Science, EarlyView.
This study explores the use of N, S co‐doped carbon quantum dots (NS‐CQDs) as carriers for riboflavin, creating NS‐CQDs‐RF composite photosensitizers. These composites improve riboflavin absorption, enhance ROS generation efficiency, and preserve corneal epithelium integrity.
Tinghong Xu, Yong Liu, Wenjing Zhang, Qiuruo Jiang, Yi Jin, Liangzheng Lin, Lumeng Wang, Zhanhao Gu, Mimi Lin, Shihao Chen   +9 more
wiley   +1 more source

Genetic kidney diseases - from discovery to precision care. [PDF]

Med Genet
Simons M, Hoefele J.
europepmc   +1 more source

RNF213 Is an Interferon‐Stimulated Gene That Targets Influenza A Virus NP and Activates MDA5 to Restrict Infection

Advanced Science, EarlyView.
RNF213 is characterized as a dual‐functional antiviral effector. It directly mediates the degradation of the influenza A virus nucleoprotein (NP) while simultaneously activating the MDA5‐mediated innate immune signaling pathway. This coordinated response establishes a powerful host defense system against viral infection. ABSTRACT Influenza A virus (IAV)
Haoning Li, Yuying Zhang, Jingjing Wang, Qianqian Zhang, Hailiang Sun, Fanhua Wei   +5 more
wiley   +1 more source

The Importance of Molecular Testing in the Diagnosis of Genetic Syndromes with Chronic Kidney Disease: Genotype-Phenotype Correlations. [PDF]

Int J Mol Sci
Butnariu LI, Russu R, Babici RG, Băgiag A, Trandafir LM, Țarcă E, Popovici P, Gimiga N, Starcea IM.   +8 more
europepmc   +1 more source

RETREG1‐Mediated Reticulophagy is Essential for Dendritic Cell Maturation and Function in Sepsis

Advanced Science, EarlyView.
Reticulophagy regulator 1 (RETREG1) maintains dendritic cell (DC) maturation and function in early sepsis. Mechanistically, activating transcription factor 6 (ATF6) acts as a direct transcription factor regulating RETREG1 expression in response to sepsis‐induced endoplasmic reticulum (ER) stress.
Ren‐Qi Yao, Chao Ren, Li‐Yu Zheng, Jing‐Yan Li, Wen‐Feng Wu, Yu‐Xuan Li, Li‐Xue Wang, Yu Duan, Lu Wang, Shuang‐Qing Liu, Peng‐Yi He, Peng‐Yue Zhao, Sen Tong, Zhi‐Xuan Li, Tuo Zhang, Meng‐Yao Wu, Shu‐Ting Wei, Ning Dong, Yao Wu, Hui Zhang, Xiao‐Mei Zhu, Zi‐Cheng Zhang, Guo‐Sheng Wu, Zhao‐Fan Xia, Xiao‐Hui Du, Hong‐Jun Kang, Zui Zou, Dao‐Lin Tang, Yong‐Ming Yao   +28 more
wiley   +1 more source

Genetic testing in chronic kidney disease of uneXplained cause (CKDx): clinical insights and evolving diagnostic paradigms. [PDF]

Med Genet
Halbritter J, Simons M.
europepmc   +1 more source

LMO7 Suppresses Tumor‐Associated Macrophage Phagocytosis of Tumor Cells Through Degradation of LRP1

Advanced Science, EarlyView.
LMO7 in tumor‐associated macrophages suppresses phagocytosis of tumor cells and limits cytotoxic T lymphocytes infiltration, fostering tumor progression. Mechanistically, LMO7 mediates the ubiquitination and degradation of the phagocytic receptor LRP1, impairing its ability to engulf tumor cells and driving macrophages toward an antitumor phenotype ...
Mengkai Li, Tao Wang, Yuwen Zhong, Zhiming Wang, Wei Li, Zejian Wang, Xinyi Yang, Yu Qiao, Jianfeng Xiang, Wei Gu, Zishu Wang, Lei Sun, Feng Qian   +12 more
wiley   +1 more source