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Current status and prospects of diagnosis and treatment of genetic kidney diseases in Chinese children [PDF]

Zhenduanxue lilun yu shijian
Genetic kidney diseases refer to a broad category of renal disorders associated with genetic etiologies. They are the leading cause of end-stage kidney disease in children and adolescents，accounting for over 25% of pediatric patients requiring renal ...
SHEN Qian
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Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract [PDF]

, 2019
Background: Mutations in hepatocyte nuclear factor 1B (HNF1B) have been associated with congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Diabetes and other less frequent anomalies have also been described.
Aguayo Calcena, Aníbal, Ariceta, Gema, Castaño González, Luis Antonio, García Castaño, Alejandro, Madariaga Domínguez, Leire, Martínez Salazar, Rosa   +5 more
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Research Models for Studying Vascular Calcification [PDF]

, 2020
Calcification of the vessel wall contributes to high cardiovascular morbidity and mortality. Vascular calcification (VC) is a systemic disease with multifaceted contributing and inhibiting factors in an actively regulated process.
Babic, Milen, Giet, Markus van der, Herrmann, Jaqueline, Schuchardt, Mirjam, Tölle, Markus   +4 more
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Succinate dehydrogenase (SDH)-deficient renal carcinoma:a morphologically distinct entity: a clinicopathologic series of 36 tumors from 27 patients [PDF]

, 2014
Succinate dehydrogenase (SDH)-deficient renal carcinoma has been accepted as a provisional entity in the 2013 International Society of Urological Pathology Vancouver Classification.
Belinsky, Cascon, Cascon, Chou, Dwight, Dwight, Eng, Fairchild, Fishbein, Fleming, Gaal, Gill, Gill, Gill, Gill, Gill, Gill, Gill, Gill, Gimm, Henderson, Housley, Janeway, Jasperson, Korpershoek, Malinoc, Miettinen, Miettinen, Miettinen, Neumann, Ni, Oudijk, Paik, Papathomas, Ricketts, Ricketts, Said-Al-Naief, Schimke, Solis, Srigley, Srirangalingam, Srirangalingam, van Nederveen, van Nederveen, Vanharanta, Wagner, Xekouki   +46 more
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Genitourinary defects, anxiety and aggressive-like behavior and glucose metabolism disorders in Zmym2 mutant mice with inserted piggyBac transposon

Frontiers in Cell and Developmental Biology
Mutations in ZMYM2 lead to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Tbx18 is co-expressed with Zmym2 in mesenchymal compartment of developing mouse ureter, indicating a potential in vivo relevance of the TBX18 ...
Rufeng Dai, Ye Yin, Minghui Yu, Yumeng Zhang, Jingjia Zhang, Tianyi Liu, Xiaoyan Fang, Xiaohui Wu, Xiaohui Wu, Qian Shen, Qian Shen, Hong Xu, Hong Xu   +12 more
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Genetic Susceptibility to Chronic Kidney Disease: Links, Risks and Management

International Journal of Nephrology and Renovascular Disease, 2023
Hanny Sawaf,1 Tariku T Gudura,1 Sylvester Dorobisz,1 Dianne Sandy,2 Xiangling Wang,1 Shane A Bobart2 1Department of Kidney Medicine, Cleveland Clinic, Cleveland, OH, USA; 2Department of Kidney Medicine, Cleveland Clinic Florida, Weston, FL ...
Sawaf H, Gudura TT, Dorobisz S, Sandy D, Wang X, Bobart SA   +5 more
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Basement Membrane Defects in Genetic Kidney Diseases [PDF]

Frontiers in Pediatrics, 2018
The glomerular basement membrane (GBM) is a specialized structure with a significant role in maintaining the glomerular filtration barrier. This GBM is formed from the fusion of two basement membranes during development and its function in the filtration barrier is achieved by key extracellular matrix components including type IV collagen, laminins ...
Christine Chew, Rachel Lennon, Rachel Lennon   +2 more
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Changes in renal WT-1 expression preceding hypertension development [PDF]

, 2016
Background: Hypertension is a public health problem with mostly unknown causes, and where strong hereditary genetic alterations have not been fully elucidated. However, the use of experimental models has provided valuable information.
Abud, María Angélica, Calvo, Juan Pablo, Casarotto, Mariana, Cuello Carrión, Fernando Darío, Ferder, León, Fornes, Miguel Walter, García, Isabel Mercedes, Manucha, Walter Ariel Fernando, Mazzei, Luciana Jorgelina   +8 more
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Cystic Kidney Diseases From the Adult Nephrologist’s Point of View

Frontiers in Pediatrics, 2018
Cystic kidney diseases affect patients of all age groups with the onset spanning from prenatal disease to late adulthood. Autosomal-dominant polycystic kidney disease (ADPKD) is by far the most common renal cystic disease.
Roman-Ulrich Müller, Thomas Benzing
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New insights from trio whole‐exome sequencing in the children with kidney disease: A single‐center retrospective cohort study

Molecular Genetics & Genomic Medicine, 2023
Background Kidney disease of children markedly affects their health and development. Limited clinical data of early‐stage kidney disease render a tremendous challenge for the accurate diagnosis.
Yi Chen, Yuanzhen Zhang, Jun Huang, Yugui Zeng, Yifang Qian, Junyan Chen, Guangming Chen, Guizhi Xia, Chengfeng Wang, Ai Feng, Zheng Li, Li Chen, Sirui Zheng, Fenrong Li, Zengfeng Weng, Chuanyin Zhang, Yuen Yang, Jinfeng Lin, Jinrong Wu, Hannan Zhang, Wenhua Ouyang, Xiaojing Nie   +21 more
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