Results 71 to 80 of about 587,070 (347)

Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression [PDF]

, 2017
Uromodulin (UMOD) mutations are responsible for three autosomal dominant tubulo-interstitial nephropathies including medullary cystic kidney disease type 2 (MCKD2), familial juvenile hyperuricemic nephropathy and glomerulocystic kidney disease.
Attanasio, Massimo, Baasner, Anne, Beck, Bodo B., Boehm, Christoph W. A., Boehnlein, Joana M., Fischer, Andreas, Hildebrandt, Friedhelm, Hopfer, Helmut, Hoppe, Bernd, Pasch, Andreas, Polishchuk, Roman S., Rampoldi, Luca, Sayer, John A., Steffens, Sarah, Wolf, Matthias T. F., Zaucke, Frank   +15 more
core  

Uromodulin storage diseases: clinical aspects and mechanisms. [PDF]

, 2004
The recent discovery of mutations in the uromodulin gene (UMOD) in patients with medullary cystic kidney disease type 2 (MCKD2), familial juvenile hyperuricemic nephropathy (FJHN), and glomerulocystic kidney disease (GCKD) provides the opportunity for a ...
Agre, Antonio Amoroso, Attar, Auranen, Bachmann, Bates, Bingham, Bingham, Bleyer, Bleyer, Brater, Carson, Chambers, Christodoulou, Ciechanover, Claudia Izzi, Coe, Cox, Dahan, Dahan, Doroti Pirulli, Ellgaard, Emma, Enomoto, Feather, Francesco Scolari, Fukuoka, Gian Marco Ghiggeri, Gianluca Caridi, Giorgio Casari, Gokhale, Gresh, Gusmano, Hart, Hartl, Heptinstall, Hershko, Hession, Hildebrandt, Hildebrandt, Hildebrandt, Hou, Hoyer, Huang, Jovine, Kamatani, Kaufman, Kobayashi, Kotanko, Kroiss, Kudo, Leal-Pinto, Luca Rampoldi, Maesaka, Mattey, Mayrer, McQueen, Melnick, Miyake, Mo, Nauli, Oh, Olbrich, Ong, Orskov, Otto, Otto, Pahl, Pak, Parkkinen, Pennica, Prasadan, Rampoldi, Regina Tardanico, Resnick, Rezende-Lima, Sanders, Schroter, Scolari, Scolari, Serafini-Cessi, Sharp, Simon, Stiburkova, Stiburkova, Su, Taulman, Thomas, Torffvit, Turner, Wang, Wangsiripaisan, Wilson, Wolf, Worcester, Woronik, Wu, Ying, Yoder, Yu, Zager   +100 more
core   +1 more source

PBRM1 Deficiency Reshapes an Immune Suppressive Microenvironment Through Epigenetic Tuning of PBRM1‐KDM5C‐IL6 Axis in ccRCC

Advanced Science, EarlyView.
PBRM1 ranks as the second most commonly mutated gene in ccRCC. This study reveals that PBRM1 loss promotes an immunosuppressive microenvironment by elevating M2 TAMs via the KDM5C–IL‐6 axis. These M2 TAMs, along with CAFs, form a barrier that excludes CD8+ T cells. Targeting IL‐6 synergizes with anti‐PD1 therapy, offering a promising strategy for PBRM1‐
Wenjiao Xia, Hongru Wang, Yu Dong, Zitong Yang, Yiyang Zhou, Zhinan Xia, Qinchen Li, Liangliang Ren, Yichun Zheng, Junliang Yan, Dongmei Ma, Zhi Chen, Xingang Cui, Guixin Zhu, Cheng Zhang   +14 more
wiley   +1 more source

Uncoupling Metastasis and Epithelial‐to‐Mesenchymal Transition in sgP19/kRAS‐Driven Spontaneous Metastatic Liver Tumor Model

Advanced Science, EarlyView.
The article first reported that a murine mixed typical intrahepatic cholangiocarcinoma (iCCA)/sarcomatoid iCCA liver tumor model with 100% incidence of spontaneous extrahepatic metastasis and confirmed the occurrence of in mouse iCCA. Most importantly, EMT induced by the TGF‐β/ZEB1 axis does not influence tumor development or distant metastasis in this
Jingwen Wang, Zijing Xu, Lei Xu, Lishan Wang, Jiahao Geng, Xue Wang, Meng Xu, Daphne Superville, Melissa Reeves, Matthias Evert, Diego F. Calvisi, Xin Chen, Xinhua Song   +12 more
wiley   +1 more source

Acquired cystic kidney disease in allograft with long-standing poor function

Brazilian Journal of Nephrology
Acquired Cystic Kidney Disease (ACKD) is regarded as a common late condition of end stage renal damage and expresses its most important features when associated with long term hemodialysis. ACKD is also widely known as a premalignant lesion.
Leonardo Cardili, Henrique Machado de Sousa Proença, Marcello Fabiano de Franco   +2 more
doaj   +1 more source

IGF‐1 Deficiency Serves as an Integrated Biomarker Pathogenic Driver and Predictor in Poor Ovarian Response

Advanced Science, EarlyView.
IGF‐1 deficiency underlies poor ovarian response (POR), as reduced levels in follicular fluid and granulosa cells impair antral follicle formation and compromise reproductive outcomes. Including IGF‐1 as a biomarker significantly enhances the accuracy of models predicting both PORrisk and pregnancy success.
Zhu Hu, Yuanyuan Yu, Guanyou Huang, Jinnan Li, Chao Yang, Aizhuan Long, Jia Tang, Tengxiang Chen, Shuyun Zhao, Tuo Zhang   +9 more
wiley   +1 more source

Cell‐Free DNA‐Based Theranostics for Inflammatory Disorders

Advanced Science, EarlyView.
Summary on the dual potential of cfDNA as biomarkers and therapeutic targets for inflammatory disorders. Figure was created with BioRender.com. ABSTRACT Inflammatory disorders are characterized by immune‐mediated inflammatory cascades that can affect multiple organs.
Jiatong Li, Yumei Wang, Xiaoxi Fan, Miao Xu, Jiawen Li, Wenfei Tan, Jianxiang Zhang, Heran Li   +7 more
wiley   +1 more source

ENFERMEDAD QUISTICA RENAL EN LA EDAD PEDIÁTRICA

Revista Chilena de Radiología, 2007
Las enfermedades quísticas renales incluyen una variada gama de patologías y representan un desafío diagnóstico tanto para el clínico como para el radiólogo. Existen diversas clasificaciones, que puede crear confusión en la interpretación de las imágenes.
Carolina Pérez S, Karla Moénne B
doaj  

Localized cystic kidney disease: a case report unveiling clinical and histopathological challenges

Autopsy and Case Reports
Localized cystic kidney disease (LCKD) is a distinct renal disorder characterized by the presence of cysts within specific regions of the kidneys. We present a rare case of a 41-year-old African American man, who presented to our medical center with ...
Teresita Mendez, Hisham F. Bahmad, Francesca Polit, Nicole Carpio, Arman Gill, William F. Burke III, Akshay Bhandari, Robert Poppiti, Yumna Omarzai   +8 more
doaj   +1 more source

Emerging targeted strategies for the treatment of autosomal dominant polycystic kidney disease. [PDF]

, 2018
Autosomal dominant polycystic kidney disease (ADPKD) is a widespread genetic disease that leads to renal failure in the majority of patients. The very first pharmacological treatment, tolvaptan, received Food and Drug Administration approval in 2018 ...
Bourgeois, Bryan C, Kruger, Samantha L, Shillingford, Jonathan M, Torres, Jacob, Weimbs, Thomas   +4 more
core   +1 more source