Results 31 to 40 of about 95,428 (234)

Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with OCRL Mutations

Genetics Research, 2022
Background. Both Lowe syndrome and Dent-2 disease are caused by variants in the OCRL gene. However, the reason why patients with similar OCRL gene mutations presented with different phenotypes remains uncertain. Methods.
Lingxia Zhang, Shugang Wang, Ruoque Mao, Haidong Fu, Jingjing Wang, Huijun Shen, Zhihong Lu, Junyi Chen, Yu Bao, Chunyue Feng, En Yin Lai, Qing Ye, Jianhua Mao   +12 more
doaj   +1 more source

Origin of Proteinuria as Observed from Qualitative and Quantitative Analysis of Serum and Urinary Proteins [PDF]

Childhood Kidney Diseases, 2015
It is well known that proteins present in the primary urine are reabsorbed in the renal proximal tubules, and that this reabsorption is mediated via the megalin‐cubilin complex and the neonatal Fcγ receptor.
Shori Takahashi
doaj   +1 more source

Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene

BMC Nephrology, 2022
Background Dent disease is an X-linked disorder characterized by low molecular weight proteinuria (LMWP), hypercalciuria, nephrolithiasis and chronic kidney disease (CKD).
Eleni Drosataki, Sevasti Maragkou, Kleio Dermitzaki, Ioanna Stavrakaki, Dimitra Lygerou, Helen Latsoudis, Christos Pleros, Ioannis Petrakis, Ioannis Zaganas, Kostas Stylianou   +9 more
doaj   +1 more source

Dent disease: A window into calcium and phosphate transport [PDF]

Journal of Cellular and Molecular Medicine, 2019
Lisa Gianesello, John Lieske, Franca Anglani   +2 more
exaly   +2 more sources

Establishment of an induced pluripotent stem cell line (WMUi016-A) from a patient with X-linked Dent disease (X-Dent) carrying the hemizygote mutation p.R718* (c.2152C > T) in the CLCN5 gene

Stem Cell Research, 2021
The gene mutations of the chloride channel gene (CLCN5) can lead to the inherited X-linked Dent disease (X-Dent). The urine cells of a 4-year-old male X-Dent patient with the hemizygous CLCN5 gene mutation p.R718* (c.2152C > T) were reprogrammed into ...
Huihui Chen, Yinjuan Ding, Weizhong Zhou, Jiajia Li, Weite Qian, Zhe Zhang, Chao Li, Hongfei Tong, Xing Rong, Maoping Chu, Congde Chen, Dexuan Wang, Xiaoling Guo   +12 more
doaj   +1 more source

Dent Disease with Mutations in OCRL1 [PDF]

The American Journal of Human Genetics, 2005
Dent disease is an X-linked renal proximal tubulopathy associated with mutations in the chloride channel gene CLCN5. Lowe syndrome, a multisystem disease characterized by renal tubulopathy, congenital cataracts, and mental retardation, is associated with mutations in the gene OCRL1, which encodes a phosphatidylinositol 4,5-bisphosphate (PIP(2)) 5 ...
Hoopes, Richard R., Shrimpton, Antony E., Knohl, Stephen J., Hueber, Paul, Hoppe, Bernd, Matyus, Janos, Simckes, Ari, Tasic, Velibor, Toenshoff, Burkhard, Suchy, Sharon F., Nussbaum, Robert L., Scheinman, Steven J.   +11 more
openaire   +2 more sources

Next-Generation Sequencing in Early Diagnosis of Dent Disease 1: Two Case Reports

Frontiers in Medicine, 2018
Dent disease 1 is a rare X-linked recessive inherited disease, caused by pathogenic variants in the chloride voltage-gated channel 5 (CLCN5) gene. Dent disease 1 is characterized by low molecular weight (LMW) proteinuria, hypercalciuria, nephrocalcinosis,
Min Wen, Min Wen, Tian Shen, Tian Shen, Ying Wang, Ying Wang, Yongzhen Li, Yongzhen Li, Xiaoliu Shi, Xiqiang Dang, Xiqiang Dang   +10 more
doaj   +1 more source

A retrospective case-control analysis of the outpatient expenditures for western medicine and dental treatment modalities in CKD patients in Taiwan. [PDF]

PLoS ONE, 2014
BACKGROUND: To determine if expenditures for dentistry (DENT) correlate with severity of chronic kidney disease (CKD). METHODS: A total of 10,457 subjects were enrolled from January 2008 to December 2010, divided into three groups: healthy control (HC ...
Ren-Yeong Huang, Yuh-Feng Lin, Sen-Yeong Kao, Yi-Shing Shieh, Jin-Shuen Chen   +4 more
doaj   +1 more source

Aerobic capacity and skeletal muscle characteristics in glycogen storage disease IIIa: an observational study

Orphanet Journal of Rare Diseases, 2022
Background Individuals with glycogen storage disease IIIa (GSD IIIa) (OMIM #232400) experience muscle weakness and exercise limitation that worsen through adulthood.
Philip J. Hennis, Elaine Murphy, Rick I. Meijer, Robin H. Lachmann, Radha Ramachandran, Claire Bordoli, Gurinder Rayat, David J. Tomlinson   +7 more
doaj   +1 more source

Collagen Degradation in Periodontal Health and Disease: A Brief Review

Essentials of Dentistry, 2022
The objective of this short review is to revisit the collagen destruction mechanisms associated with periodontal health and disease. It is important to differentiate between physiologic remodeling and bacterial enzymatic degradation in diseased ...
Nikitha Kolamala, Vijay Kumar Chava
doaj   +1 more source