Results 81 to 90 of about 17,098 (226)

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

open access: yesJournal of Cellular and Molecular Medicine, Volume 30, Issue 6, March 2026.
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 ...
Chengpeng Wu   +8 more
wiley   +1 more source

Cell Calcification Models and Their Implications for Medicine and Biomaterial Research

open access: yesAdvanced Healthcare Materials, Volume 15, Issue 6, 9 February 2026.
Calcification, is the process by which the tissues containing minerals are formed, occurring during normal physiological processes, or in pathological conditions. Here, it is aimed to give a comprehensive overview of the range of cell models available, and the approaches taken by these models, highlighting when and how methodological divergences arise,
Luke Hunter   +5 more
wiley   +1 more source

Diseases associated with calcium-sensing receptor [PDF]

open access: yes, 2017
The calcium-sensing receptor (CaSR) plays a pivotal role in systemic calcium metabolism by regulating parathyroid hormone secretion and urinary calcium excretion.
A. Jannin   +6 more
core   +1 more source

Gitelman and Bartter Syndrome in a Patient With Morbid Obesity: A Case Report and Literature Review

open access: yesClinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT We present a case study of a 34‐year‐old man with morbid obesity and a suspected Bartter–Gitelman spectrum tubulopathy (without genetic confirmation), weighing 135 kg, and with a BMI of 42.5 kg/m2, who was referred to the metabolic and bariatric surgery department due to morbid obesity to address abnormal electrolyte levels.
Solmaz Hasani   +4 more
wiley   +1 more source

Sarcoidosis presenting as granulomatous myositis in a 16-year-old adolescent [PDF]

open access: yes, 2016
BACKGROUND: Sarcoidosis is a multi-system disease characterized by the presence of non-caseating epithelioid granulomas in affected tissues, including skeletal muscle.
Eutsler, Eric Eutsler   +4 more
core   +2 more sources

Metabolic abnormalities and genitourinary tract anatomical alternations in patients with recurrent urolithiasis

open access: yesArchives of Clinical and Experimental Surgery, 2017
Background: Preventing the recurrence of episodes of stone formation is the focus of interest for patients. This retrospective study aimed to determine the prevalence of metabolic abnormalities and anatomical alterations of the genitourinary tract in ...
John Neil, Jose Binu
doaj   +1 more source

Childhood extraordinary daytime urinary frequency—a case series and a systematic literature review [PDF]

open access: yes, 2018
Childhood extraordinary daytime urinary frequency is likely a common but underreported condition characterized by daytime frequent voiding and typically not linked with complaints of burning, urinary incontinence, altered urinary stream, changes in the ...
Ataia, Iris   +6 more
core  

Mouse Models of Human Claudin-Associated Disorders: Benefits and Limitations [PDF]

open access: yes, 2019
In higher organisms, epithelia separate compartments in order to guarantee their proper function. Such structures are able to seal but also to allow substances to pass.
Fernández-Rodríguez, Cármen   +3 more
core   +1 more source

Modalities of Vitamin D Administration to Preterm Infants: Impact on 25 OH Vitamin D Levels

open access: yes
Acta Paediatrica, Volume 115, Issue 4, Page 985-987, April 2026.
Sophie Laborie   +3 more
wiley   +1 more source

Gain-of-function haplotype in the epithelial calcium channel TRPV6 is a risk factor for renal calcium stone formation [PDF]

open access: yes, 2017
The rate-limiting step of dietary calcium absorption in the intestine requires the brush border calcium entry channel TRPV6. The TRPV6 gene was completely sequenced in 170 renal calcium stone patients.
Bonny, Olivier   +5 more
core  

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