Results 81 to 90 of about 6,819 (177)

Additional file 1: of Genetic variants of SLC12A3 modulate serum lipid profiles in a group of Mongolian pedigree population

, 2018
Table S1. The association between tag SNPs of SLC12A3 and TCHO, TG and HDL-C level by FBAT and HBAT methods. Table S2. The correlation among blood pressure and lipid parameters. Table S3. The influence of rs5803 and rs711746 polymorphism on individuals’
Junqing Liang (5107103), Caiyan An (5107100), Kejin Zhang (785004), Xiulan Su (3433907)   +3 more
core   +1 more source

Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study

Clinical Genetics, Volume 109, Issue 1, Page 136-140, January 2026.
In a multicenter study of 692 patients with kidney disease, a 44‐gene panel achieved a 36% diagnostic yield. The 36% yield was not significantly lower than with larger panels or whole‐exome sequencing. A post hoc machine‐learning model identified key predictors to stratify patients into four risk bins (11%–74% yield), enabling more cost‐effective ...
Silvia Giovanella, Antonio Miguel Poyatos‐Andújar, Maria Mar Aguila Garcia, Almudena Avila‐Fernandez, Ana Bustamante‐Aragonés, Carmen Ayuso, Antonio Percesepe, Davide Martorana, Maria Ferri, Alessandra Terracciano, Laura Massella, Johanna Chester, Francesca Testa, Giulia Ligabue, Marco Ferrarini, Dino Gibertoni, Gaetano Alfano, Elena Tenedini, Lucia Artuso, Marco Marino, Olga Calabrese, Enrico Tagliafico, Riccardo Magistroni   +22 more
wiley   +1 more source

Image1_Novel compound heterozygous variants of SLC12A3 gene in a Chinese patient with Gitelman syndrome: a case report.pdf

, 2023
Background: The Gitelman syndrome (GS) is an autosomal recessive disorder of renal tubular salt handling. Gitelman syndrome is characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria, and renin-angiotensin-aldosterone system ...
Hongjun Chen (132548), Jianghua Chen (2237035), Heng Li (6476), Wenqing Chen (471076), Qin Zhou (239082)   +4 more
core   +1 more source

A case report of Gitelman syndrome resulting from two novel mutations in SLC12A3 gene [PDF]

, 2016
IntroductionHypokalaemia is a common clinical problem. A potential but commonly overlooked cause of hypokalaemia is Gitelman syndrome.Material and methodsA 26-year-old man was admitted to the hospital due to syncope with general and muscular weakness and
Sonia Kaniuka- Jakubowska, Krzysztof Sworczak, Marcin Renke, Lukasz Obolonczyk, Renata Swiatkowska-Stodulska, Wojciech Wolyniec, Zuzanna Wolyniec, Mato Nagel   +7 more
core   +3 more sources

Local Adaptation and Osmoregulatory Mechanisms of the Copepod Acartia tonsa Under Low Salinity Stress

Molecular Ecology, Volume 35, Issue 1, January 2026.
ABSTRACT Salinity—an essential factor shaping marine species distributions—is rapidly shifting due to global change, yet the mechanisms of salinity tolerance and adaptation remain poorly understood. We investigated local adaptation in the calanoid copepod Acartia tonsa, a broadly distributed marine species that thrives in the brackish Baltic Sea. Using
Alexandra Hahn, Jennifer C. Nascimento‐Schulze, Georgia Avgerinou, Till Bayer, Reid S. Brennan   +4 more
wiley   +1 more source

A Rare Case of Bartter Syndrome Type 3 Diagnosed in Elderly Age

Case Reports in Endocrinology, Volume 2026, Issue 1, 2026.
Bartter syndrome (BS) type 3 typically presents in childhood and is caused by defects in NaCl transporters of the thick ascending limb of the loop of Henle. We report a 66‐year‐old woman with asymptomatic but severe hypokalemia (2.0 mmol/L), metabolic alkalosis, and hyperreninemic hyperaldosteronism.
Tsuyoshi Okura, Kenji Fukaya, Tetsuya Okazaki, Kaori Adachi, Yoshiharu Kinugasa, Masaru Kato, Kalyani Sen   +6 more
wiley   +1 more source

Gitelman Syndrome in a Child Presenting With Polyuria and Polydipsia: Diagnostic Challenges in a Resource‐Limited Setting

Case Reports in Nephrology, Volume 2026, Issue 1, 2026.
Gitelman syndrome (GS) is a rare inherited renal salt‐wasting tubulopathy characterized by hypokalemia, hypomagnesemia, and hypocalciuria. Its nonspecific presentation often overlaps with that of more common pediatric conditions, leading to delayed diagnosis, particularly in resource‐limited settings.
Erneus Ernest, Devis Simbila, Poorani Gurumallesh Prabu   +2 more
wiley   +1 more source

Image2_Novel compound heterozygous variants of SLC12A3 gene in a Chinese patient with Gitelman syndrome: a case report.pdf

, 2023
Background: The Gitelman syndrome (GS) is an autosomal recessive disorder of renal tubular salt handling. Gitelman syndrome is characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria, and renin-angiotensin-aldosterone system ...
Hongjun Chen (132548), Jianghua Chen (2237035), Heng Li (6476), Wenqing Chen (471076), Qin Zhou (239082)   +4 more
core   +1 more source

Screening Autophagy‐Related DKD Biomarkers Based on Bulk RNA and Single‐Cell Analysis and Uncovering Their Regulatory Mechanisms in DKD Renal Fibrosis

Journal of Diabetes Research, Volume 2026, Issue 1, 2026.
Background Diabetic kidney disease (DKD) is a common diabetes complication that increases global morbidity and mortality. To identify DKD biomarkers and explore autophagy‐related mechanisms to find potential therapeutic targets for DKD treatment. Methods After standardizing and analyzing the GSE142025 and Merged_GSE47183_GSE32591 datasets, DKD‐related ...
Qin Wang, Xiaoqi Li, Wen Ye, Qi Wang, Xianjin Bi, Hannah Wesley   +5 more
wiley   +1 more source

Table1_Novel compound heterozygous variants of SLC12A3 gene in a Chinese patient with Gitelman syndrome: a case report.docx

, 2023
Background: The Gitelman syndrome (GS) is an autosomal recessive disorder of renal tubular salt handling. Gitelman syndrome is characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria, and renin-angiotensin-aldosterone system ...
Heng Li, Wenqing Chen, Hongjun Chen (132548), Jianghua Chen (2237035), Heng Li (6476), Jianghua Chen, Wenqing Chen (471076), Qin Zhou (239082), Qin Zhou, Hongjun Chen   +9 more
core   +1 more source