Results 11 to 20 of about 2,184 (189)

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

Dent's disease: Identification of seven new pathogenic mutations in the CLCN5 gene.

J Pediatr Genet, 2013
Dent's disease is an X-linked proximal tubulopathy characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis and progressive renal failure. This disorder is frequently caused by mutations in the CLCN5 gene encoding the electrogenic chloride/proton exchanger ClC-5.
Ramos-Trujillo E, Claverie-Martin F, Garcia-Nieto V, Ariceta G, Vara J, Gonzalez-Acosta H, Garcia-Ramirez M, Fons J, Cordoba-Lanus E, Gonzalez-Paredes J, Valenciano B, Ramos L, Muley R, Caggiani M, Alvarez-Estrada P, Madrid A, RenalTube Group.   +16 more
europepmc   +3 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

The Alu insertion in the CLCN5 gene of a patient with Dent’s disease leads to exon 11 skipping [PDF]

Journal of Human Genetics, 2005
Alu sequences are short, interspersed elements that have generated more than one million copies in the human genome. They propagate by transcription followed by reverse transcription and integration, causing mutations, recombination, and changes in pre-mRNA splicing. We have recently identified a 345-bp long Alu Ya5 element inserted in codon 650 within
Félix, Claverie-Martín, Carlos, Flores, Montserrat, Antón-Gamero, Hilaria, González-Acosta, Víctor, García-Nieto   +4 more
openaire   +4 more sources

Cloning and Characterization of CLCN5, the Human Kidney Chloride Channel Gene Implicated in Dent Disease (an X-Linked Hereditary Nephrolithiasis) [PDF]

Genomics, 1995
Dent disease, an X-linked familial renal tubular disorder, is a form of Fanconi syndrome associated with proteinuria, hypercalciuria, nephrocalcinosis, kidney stones, and eventual renal failure. We have previously used positional cloning to identify the 3' part of a novel kidney-specific gene (initially termed hClC-K2, but now referred to as CLCN5 ...
Fisher, S., Van Bakel, I., Lloyd, S., Pearce, S., Thakker, R., Craig, I.   +5 more
openaire   +6 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

Case Report: Early acute kidney failure in an 11-year-old boy with Dent disease type 1 [PDF]

Frontiers in Pediatrics
Dent disease type 1 (Dent 1) is a rare X-linked genetic condition which impacts kidney function and is caused by pathogenic variants in CLCN5.
Nicolette Murphey, Craig Authement, Paul Hillman, Samhar I. Al-Akash, Kate Richardson   +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

Dent Disease 1 Presented Early with Bartter-Like Syndrome Features and Rickets: A Case Report [PDF]

Case Reports in Nephrology and Dialysis
Introduction: Dent disease (DD) is characterized by a triad of low-molecular-weight proteinuria, hypercalciuria, and nephrocalcinosis/nephrolithiasis.
Cahyani Gita Ambarsari, Habibah Azzahra Putri Agianda, Meilania Saraswati, Jon Jin Kim   +3 more
doaj   +2 more sources

Molecular Mechanisms of CLCN5 Missense Mutations in Dent Disease Type 1: A Comprehensive Computational Analysis and Clinical Correlations in a Chinese Cohort. [PDF]

J Cell Mol Med
ABSTRACT Dent's disease, an X‐linked recessive disorder predominantly affecting males, is characterized by nephrocalcinosis, nephrolithiasis, and a high risk of progression to end‐stage renal disease. Dent's disease type 1, accounting for 60% of cases, caused by mutations in the CLCN5 gene encoding the chloride ion channel protein ClC‐5, exhibits ...
Wu C, Zhang Y, Chen Z, Fu H, Du Z, Chen L, Wang G, Mao J, Hu L.   +8 more
europepmc   +2 more sources