Results 81 to 90 of about 628,301 (302)

The importance of genetic testing in adolescent-onset steroid-resistant nephrotic syndrome - Case report [PDF]

, 2014
Approximately 10-20% of children and 40% of adults with idiopathic nephrotic syndrome are steroid resistant and progress to end-stage renal disease requiring dialysis or renal transplantation.
Benoit, Benoit, Büscher, Büscher, Chernin, Chernin, Eddy, Eddy, Ehrich, Ehrich, Hinkes, Hinkes, Hoyer, Hoyer, Kerti, Kerti, Lipska, Lipska, Loirat, Loirat, Mekahli, Mekahli, Mucha, Mucha, Philippe, Philippe, Rood IM, Rood IM, Ruf, Ruf, Ruf, Ruf, Santin, Santin, Weber, Weber   +35 more
core   +2 more sources

Development of human monoclonal antibodies against TARM1 by yeast display

FEBS Open Bio, EarlyView.
Human monoclonal antibodies against TARM1 are generated by yeast display‐guided selection. These antibodies bind to soluble and cell‐surface forms of TARM1. Also, these antibodies exhibit agonistic activity in the NFAT‐GFP reporter assay, indicating that TARM1 signaling can be functionally modulated by antibodies and suggesting TARM1 as a potential ...
Rikio Yabe, Mayumi Saeki, Masaaki Hashiguchi, Sayaka Ono, Kazuhisa Aoki, Hidetaka Tanno   +5 more
wiley   +1 more source

ARL3 mutations cause Joubert syndrome by disrupting ciliary protein composition [PDF]

, 2018
Joubert syndrome (JBTS) is a genetically heterogeneous autosomal recessive neurodevelopmental ciliopathy. We investigated further the underlying genetic etiology of Joubert syndrome by studying two unrelated families in whom JBTS was not associated ...
Alhashem, Amal, Alkanderi, Sumaya, Alkuraya, Fowzan S., Cairns, George, Edwards, Noel, Elmaghloob, Yasmin, Ewida, Nour, Ismail, Shehab, Miles, Colin G., Molinari, Elisa, Ramsbottom, Simon A., Rice, Sarah J., Sammut, Veronica, Sayer, John A., Shaheen, Ranad, Srivastava, Shalabh, Steel, David H., Stephen, Louise A., White, Kathryn   +18 more
core   +1 more source

Establishing an assay to evaluate d‐amino acid oxidase enzyme kinetics and inhibition using WST‐8 redox dye

FEBS Open Bio, EarlyView.
This study investigated a novel WST‐8‐based assay for evaluating d‐Amino acid oxidase (DAO) inhibitors. We confirmed its effectiveness using known inhibitors and found that uremic toxins possess relatively weak inhibitory activity compared to existing drugs.
Kahoko Miyake, Yuki Enoki, Yuka Nakazawa, Kazuaki Taguchi, Kazuaki Matsumoto   +4 more
wiley   +1 more source

Multifactorial Predictors of Renal Outcomes in Alport Syndrome: Integrating Genetic, Clinical, and Cystic Phenotypes

Kidney Medicine
Rationale & Objective: Alport syndrome is an inherited kidney disease with significant clinical heterogeneity. This study aims to explore risk factors affecting the prognosis and investigates the relationship between kidney cysts and clinical ...
Zhuo-ran Song, Yang Li, Zhi-ying Liu, Meng-shi Li, Yu-qing Chen, Ji-cheng Lv, Xu-jie Zhou, Hong Zhang   +7 more
doaj   +1 more source

Screening and epitope characterization of Nidogen‐2‐specific nanobodies

FEBS Open Bio, EarlyView.
Camel immunization and phage display were employed to generate high‐affinity VHH nanobodies against Nidogen‐2. After library construction, biopanning, ELISA screening, sequencing, and recombinant expression, selected nanobodies were purified and characterized, leading to the preliminary exploration of a nanobody‐based sandwich ELISA for specific ...
Jianchuan Wen, Qianqian Cui, Zhongyun Lan, Yingjun Wang, Shuaiying Zhao, Wenxuan Feng, Yunfeng Liu, Qiting Huang, Dongna Zhang, Jianfeng Xu   +9 more
wiley   +1 more source

People with genetic kidney diseases on kidney replacement therapy have different clinical outcomes compared to people with other kidney diseases

Scientific Reports
Despite increasing awareness of genetic kidney disease prevalence, there is limited population-level information about long term outcomes of people with genetic kidney disease receiving kidney replacement therapy.
Helen Y. Han, Venkat Vangaveti, Matthew Jose, Monica Suet Ying Ng, Andrew John Mallett   +4 more
doaj   +1 more source

Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease

Brazilian Journal of Medical and Biological Research, 2018
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is characterized by autosomal dominant inheritance, progressive chronic kidney disease, and a bland urinary sediment.
L.B. Lopes, C.C. Abreu, C.F. Souza, L.E.R. Guimaraes, A.A. Silva, F. Aguiar-Alves, K.O. Kidd, S. Kmoch, A.J. Bleyer, J.R. Almeida   +9 more
doaj   +1 more source

A single-nucleus RNA-sequencing pipeline to decipher the molecular anatomy and pathophysiology of human kidneys [PDF]

, 2019
Defining cellular and molecular identities within the kidney is necessary to understand its organization and function in health and disease. Here we demonstrate a reproducible method with minimal artifacts for single-nucleus Droplet-based RNA sequencing (
Chen, Song, Gao, Derek, Gaut, Joseph, Hoshi, Masato, Jain, Sanjay, Kim, Eric H., Knoten, Amanda, Lake, Blue B., Plongthongkum, Nongluk, Salamon, Diane, Venkatesh, Ramakrishna, Vijayan, Anitha, Zhang, Kun   +12 more
core   +2 more sources

Quantitative proteomic analysis reveals different characteristics of bladder cancer cells after exposure to bisphenol A

FEBS Open Bio, EarlyView.
Bisphenol A (BPA), a common chemical in plastics, exerts dual effects on bladder cancer cells: low doses promote growth and migration, while high doses suppress growth and migration. Multi‐omics and bioinformatics reveal BPA acts via MAPK and inflammatory pathways.
Shaomin Niu, Lanlan Li, Wenjuan Jia, Hanzhong Feng, Xiaoquan Yu, Youli Zhao, Fengzhi Yuan, Hui Ding, Junqiang Tian, Yong‐Xing He, Zhiping Wang   +10 more
wiley   +1 more source