Results 51 to 60 of about 1,469 (156)

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

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

Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets [PDF]

Journal of Human Genetics, 2012
This study aimed to identify the underlying genetic mutation in patients with hypophosphatemic rickets (HR). Genomic DNA was analysed for mutations in PHEX, FGF23 and CLCN5 by polymerase chain reaction (PCR) followed by denaturing high-performance liquid chromatography (dHPLC).
Beck-Nielsen, Signe, Brixen, Kim, Gram, Jeppe, Brusgaard, Klaus   +3 more
openaire   +3 more sources

Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders [PDF]

Human Molecular Genetics, 1997
Mutations of the renal-specific chloride channel (CLCN5) gene, which is located on chromosome Xp11.22, are associated with hypercalciuric nephrolithiasis (kidney stones) in the Northern European and Japanese populations. CLCN5 encodes a 746 amino acid channel (CLC-5) that has approximately 12 transmembrane domains, and heterologous expression of wild ...
Lloyd, S., Günther, W., Pearce, S., Thomson, A., Bianchi, M., Bosio, M., Craig, I., Fisher, S., Scheinman, S., Wrong, O., Jentsch, T., Thakker, R.   +11 more
openaire   +4 more sources

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

Implication of intracellular chloride channel in extracellular matrix remodeling in pressure‐overloaded mice and patients with dilated cardiomyopathy

Physiological Reports, Volume 14, Issue 1, January 2026.
Abstract Chloride intracellular channels (CLICs) are important in cardiac cellular physiology. We aimed to determine the pathophysiological roles of CLICs in the heart. For this, we analyzed CLIC expression in cardiomyocytes in a mouse transverse aortic constriction (TAC) model to induce cardiac hypertrophy and failure, as well as in ventricular ...
Gaku Oguri, Seitaro Nomura, Takafumi Nakajima, Hironobu Kikuchi, Syotaro Obi, Issei Komuro, Norihiko Takeda, Shigeru Toyoda, Toshiaki Nakajima   +8 more
wiley   +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

The Concise Guide to PHARMACOLOGY 2025/26: Ion channels

British Journal of Pharmacology, Volume 182, Issue S1, Page S152-S241, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander, Jörg Striessnig, Alasdair J. Gibb, Alistair A. Mathie, Emma L. Veale, Eamonn Kelly, Chloe J. Peach, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Richard W. Aldrich, Bernard Attali, Austin M. Baggetta, Elvir Becirovic, David J. Beech, Martin Biel, Roslyn M. Bill, Ana I. Caceres, William A. Catterall, Han Chow Chua, Alex C. Conner, Henry Danahay, Paul Davies, Katrien De Clerq, Markus Delling, Francesco Di Virgilio, Simonetta Falzoni, Wei Fang, Stefanie Fenske, Anna Fortuny‐Gomez, Samuel Fountain, George K. Chandy, Mohammad‐Reza Ghovanloo, Steve A. N. Goldstein, Martin Gosling, Christian Grimm, Stephan Grissmer, Kotdaji Ha, Tim G. Hales, Verena Hammelmann, Israel Hanukoglu, Meiqin Hu, Ad P. Ijzerman, Sairam V. Jabba, Mike Jarvis, Anders A. Jensen, Sven E. Jordt, Leonard K. Kaczmarek, Stephan Kellenberger, Charles Kennedy, Brian King, Philip Kitchen, Qiang Liu, Joseph W. Lynch, Rian W. Manville, Jessica Meades, Verena Mehlfeld, Annette Nicke, Stefan Offermanns, Edward Pérez‐Reyes, Leigh D. Plant, Stephan A. Pless, Lachlan D. Rash, Dejian Ren, Hussein N. Rubaiy, Mootaz M. Salman, Werner Sieghart, Lucia G. Sivilotti, Trevor G. Smart, Terrance P. Snutch, Paolo Tammaro, Jinbin Tian, James S. Trimmer, Charlotte Van den Eynde, Paola Vergani, Joris Vriens, Stephen G. Waxman, Aguan D. Wei, Brenda T. Winn, Heike Wulff, Haoxing Xu, Fan Yang, Lixia Yue, Xiaoli Zhang, Michael Zhu   +86 more
wiley   +1 more source

Complementary Roles of DNA Methylation and miRNA in Regulating Gene Expression Under Environmental Stress in Biological Invasions

Evolutionary Applications, Volume 18, Issue 11, November 2025.
ABSTRACT Biological invasions significantly threaten global biodiversity and disrupt the stability of ecosystems worldwide. Effective responses to environmental stressors are crucial for invasion success; however, the underlying epigenetic regulatory mechanisms remain poorly understood, especially regarding the interplay among multiple regulatory ...
Weijie Yan, Ruiying Fu, Xuena Huang, Aibin Zhan   +3 more
wiley   +1 more source

Genetic factors for hematological traits in pigs

Animal Genetics, Volume 56, Issue 5, October 2025.
Abstract Complete blood count with differential is a critical diagnostic tool for evaluating the physiological and health status of individuals by analyzing white blood cells, red blood cells, and platelets. While extensively used in human medicine, the application of complete blood count biomarkers in pigs remain limited.
Jiahong Sun, Emil Ibragimov, Peter Karlskov‐Mortensen, Merete Fredholm   +3 more
wiley   +1 more source