Results 11 to 20 of about 1,497 (161)

Solute carrier-correlated gene signature in predicting the prognosis and immunity in patients with acute myeloid leukemia [PDF]

European Journal of Medical Research
Background Solute carrier (SLC) is involved in diverse malignancies. This research analyzed the involvement of SLC-related genes in acute myeloid leukemia (AML).
Delei Zhang, Gongli Li
doaj   +2 more sources

Genetic and clinical phenotype of Dent disease in Chinese children and the etiological analysis of early - onset chronic kidney disease [PDF]

Italian Journal of Pediatrics
Background A prominent feature of Dent disease (DD) is the progressive decline in renal function, with 30% - 80% of male patients advancing to end-stage renal disease between the ages of 30 and 50 years.
Lanqi Zhou, Zuowei Yu, Yuan Yang, Yanxinli Han, Liru Qiu, Yu Zhang, Fengjie Yang, Jianhua Zhou   +7 more
doaj   +2 more sources

Empagliflozin does not prevent progression of Dent's disease type 1 in a mouse model. [PDF]

Exp Physiol
Abstract Dent's disease is a rare inherited renal disorder characterized by generalized proximal tubule dysfunction with low molecular weight proteinuria, hypercalciuria, and urinary loss of other solutes. The disease is progressive and leads to chronic kidney disease.
de Combiens E, Frachon N, Bignon Y, Fila M, Brossard C, Frère P, Lourdel S.   +6 more
europepmc   +2 more sources

Renal antiporter ClC-5 regulates collagen I/IV through the β-catenin pathway and lysosomal degradation [PDF]

Life Science Alliance
This study describes how ClC-5, the genetic cause of a rare renal pathology, regulates collagen transcription and degradation, providing a better understanding of disease progression to renal fibrosis. Mutations in Cl − /H + antiporter ClC-5 cause Dent’s
Mònica Durán, Gema Ariceta, Maria E Semidey, Carla Castells-Esteve, Andrea Casal-Pardo, Baisong Lu, Anna Meseguer, Gerard Cantero-Recasens   +7 more
doaj   +2 more sources

Unprecedented coexistence of Dent’s disease type 1 and Wilson’s disease in a two-year-old Chinese boy: implications for precision medicine [PDF]

BMC Nephrology
Background The concurrent diagnosis of Dent’s disease type 1 (DD1) and Wilson’s disease (WD) in a single individual has not been previously documented. The co-occurrence of these two distinct autosomal recessive and X-linked disorders poses significant ...
Qingxian Mao, Wai W. Cheung, Ruochen Che, Fei Zhao, Xueqin Cheng, Guixia Ding   +5 more
doaj   +2 more sources

Pediatric Dent disease presenting with rickets and end-stage renal disease: case report and literature review [PDF]

Journal of International Medical Research
Dent disease is a rare disease with proximal renal tubular dysfunction, and is characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and chronic kidney disease. Renal failure slowly progresses and end-stage
Youying Mao, Chenxing Zhang, Zhengyu Zhou, Wei Zhou, Lei Yin   +4 more
doaj   +2 more sources

Prenatal diagnosis of dent disease type I with a nonsense pathogenic variant in CLCN5: a case study [PDF]

BMC Medical Genomics
Introduction Dent disease type I is a rare X-linked recessive renal tubular disease resulting from pathogenic variants in the CLCN5 gene. Due to the rarity of Dent disease type I and the diversity of its phenotypes, its clinical diagnosis is complex and ...
Ruijue Zhu, Mingming Zhu, Boye Wang, Enen Chen, Danlei Cai, Yinghong Yang, Yi Liang, Chuqi Su, Ding Wang, Xiaofang Sun, Linhuan Huang, Yingjun Xie   +11 more
doaj   +2 more sources

Clinical features and genetic analysis of 15 Chinese children with dent disease [PDF]

Renal Failure
Objective  The clinical characteristics, genetic mutation spectrum, treatment strategies and prognoses of 15 children with Dent disease were retrospectively analyzed to improve pediatricians’ awareness of and attention to this disease.Methods  We ...
Qian Li, Zhenle Yang, Ruixian Zang, Suwen Liu, Lichun Yu, Jing Wang, Cong Wang, Xiaoyuan Wang, Shuzhen Sun   +8 more
doaj   +2 more sources

Clinical features and genetic analysis of nine Chinese children with Dent disease and identification of three novel CLCN5 and OCRL variants

Renal Failure
Objective This study aims to elucidate the genetic and phenotypic characteristics of pediatric patients with potential Dent disease (DD).Methods High-throughput sequencing was conducted on 11 pediatric patients with potential cases of DD.
Xinyi Jiang, Hongzhou Lin, Qifan Zhu, Huihui Chen, Yutong Huang, Xiu-Feng Huang, Dexuan Wang   +6 more
exaly   +3 more sources

Clinical and CLCN5 genetic mutation analysis of Dent’s disease in children

Linchuang shenzangbing zazhi, 2017
Objective Dent disease is a rare X-linked recessive renal tubular disease.This study aimed to enhance the recognition of dent disease by exploring the clinical characteristics and genetic features.Methods Methods The clinical data of 3 children with Dent
CHEN Guo-qiang, ZHANG Xiao-ge, LI Zhi-juan, CHENG Yin-ping   +3 more
doaj   +1 more source