Results 51 to 60 of about 1,497 (161)

Phenotypic spectrum and antialbuminuric response to angiotensin converting enzyme inhibitor and angiotensin receptor blocker therapy in pediatric Dent disease

Molecular Genetics & Genomic Medicine, 2020
Background To characterize the phenotypic spectrum and assess the antialbuminuric response to angiotensin converting enzyme (ACE) inhibitor and/or angiotensin receptor blocker (ARB) therapy in a cohort of children with Dent disease. Methods The patients’
Haiyue Deng, Yanqin Zhang, Huijie Xiao, Yong Yao, Hongwen Zhang, Xiaoyu Liu, Baige Su, Na Guan, Xuhui Zhong, Suxia Wang, Jie Ding, Fang Wang   +11 more
doaj   +1 more source

Apolipoprotein M modulates erythrocyte efflux and tubular reabsorption of sphingosine-1-phosphate

Journal of Lipid Research, 2014
Sphingosine-1-phosphate (S1P) mediates several cytoprotective functions of HDL. apoM acts as a S1P binding protein in HDL. Erythrocytes are the major source of S1P in plasma. After glomerular filtration, apoM is endocytosed in the proximal renal tubules.
Iryna Sutter, Rebekka Park, Alaa Othman, Lucia Rohrer, Thorsten Hornemann, Markus Stoffel, Olivier Devuyst, Arnold von Eckardstein   +7 more
doaj   +1 more source

Bartter-Like Syndrome as the Initial Presentation of Dent Disease 1: A Case Report

Frontiers in Pediatrics, 2021
Dent disease is a rare genetic disease characterized by low-molecular-weight proteinuria. Dent disease with Bartter-like syndrome is rare and can easily be misdiagnosed and mistreated. Herein, we report a case of Dent disease 1 with Bartter-like syndrome
Qiaoping Chen, Yan Cao, Liyun Xu, Jingqi Liu, Xiaochuan Wu   +4 more
doaj   +1 more source

Caspase‐mediated cleavage events hidden by secondary proteolysis during apoptosis

Protein Science, Volume 35, Issue 8, August 2026.
Abstract Caspases are cysteine proteases that cleave specific proteins to control a range of cellular processes including cell death, inflammation, and differentiation. Proteomic approaches, like N‐terminomics, have been central to identifying both cleaved proteins and where they are cleaved.
Fatemeh Fotouhi, Erik Gomez‐Cardona, Jainilkumar Patel, Olivier Julien, Howard Fearnhead   +4 more
wiley   +1 more source

A novel CLCN5 pathogenic mutation supports Dent disease with normal endosomal acidification [PDF]

Human Mutation, 2018
Dent disease is an X-linked recessive renal tubular disorder characterized by low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. Inactivating mutations of CLCN5, the gene encoding the 2Cl- /H+ exchanger ClC-5, have been reported in patients with Dent disease 1.
Bignon, Yohan, Alekov, Alexi, Frachon, Nadia, Lahuna, Olivier, Jean-Baptiste Doh-Egueli, Carine, Deschênes, Georges, Vargas-Poussou, Rosa, Lourdel, Stéphane   +7 more
openaire   +3 more sources

Dent disease presenting with nyctalopia and electroretinographic correlates of vitamin A deficiency

American Journal of Ophthalmology Case Reports, 2023
Purpose: To report a unique case of Dent Disease presenting with nyctalopia associated with vitamin A deficiency and abnormal electroretinogram findings without prior systemic symptomatology.
Justin J. Arnett, Alexa Li, Shaden H. Yassin, Robin Miller, Lori Taylor, Caitlin E. Carter, Katayoon Shayan-Tabrizi, Shyamanga Borooah   +7 more
doaj   +1 more source

Design of Nanocarriers for Kidney Targeted Delivery of Nucleic Acid Therapeutics

Macromolecular Bioscience, Volume 26, Issue 7, July 2026.
Nucleic acid therapeutics have been investigated to expand their applications to renal genetic disorders. This review summarizes key considerations in the design and fabrication of nanocarriers for the systemic delivery of nucleic acid therapeutics to the kidneys.
Jun Hyuk Lee, Junku Han, Sehwan Park, Hyejung Mok   +3 more
wiley   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Construction of a solid Cox model for AML patients based on multiomics bioinformatic analysis

Frontiers in Oncology, 2022
Acute myeloid leukemia (AML) is a highly heterogeneous hematological malignancy. The bone marrow (BM) microenvironment in AML plays an important role in leukemogenesis, drug resistance and leukemia relapse.
Fu Li, Jiao Cai, Jiao Cai, Jia Liu, Shi-cang Yu, Xi Zhang, Yi Su, Lei Gao   +7 more
doaj   +1 more source

Analysis of chronic kidney disease patients by targeted next-generation sequencing identifies novel variants in kidney-related genes

Frontiers in Genetics, 2022
Despite the enormous economic and societal burden of chronic kidney disease (CKD), its pathogenesis remains elusive, impeding specific diagnosis and targeted therapy. Herein, we sought to elucidate the genetic causes of end-stage renal disease (ESRD) and
Manal Alaamery, Manal Alaamery, Manal Alaamery, Jahad Alghamdi, Salam Massadeh, Salam Massadeh, Salam Massadeh, Mona Alsawaji, Nora Aljawini, Nora Aljawini, Nora Aljawini, Nour Albesher, Nour Albesher, Bader Alghamdi, Mansour Almutairi, Fayez Hejaili, Fayez Hejaili, Majid Alfadhel, Batoul Baz, Bader Almuzzaini, Adel F. Almutairi, Mubarak Abdullah, Francisco J. Quintana, Abdullah Sayyari, Abdullah Sayyari, Abdullah Sayyari   +25 more
doaj   +1 more source