Results 151 to 160 of about 36,234 (283)

Prenatal diagnosis of dent disease type I with a nonsense pathogenic variant in CLCN5: a case study

BMC Medical Genomics
Introduction Dent disease type I is a rare X-linked recessive renal tubular disease resulting from pathogenic variants in the CLCN5 gene. Due to the rarity of Dent disease type I and the diversity of its phenotypes, its clinical diagnosis is complex and ...
Ruijue Zhu, Mingming Zhu, Boye Wang, Enen Chen, Danlei Cai, Yinghong Yang, Yi Liang, Chuqi Su, Ding Wang, Xiaofang Sun, Linhuan Huang, Yingjun Xie   +11 more
doaj   +1 more source

Renal Disease Burden in Prurigo Nodularis: A Systematic Review and Meta‐Analysis

International Journal of Dermatology, EarlyView.
Natalia Chalupczak, Natalie Bourand, Deborah Woo, Raj Chovatiya   +3 more
wiley   +1 more source

Characterization of postnatal brain injury and behavioural deficits in a rat model of placental insufficiency‐induced fetal growth restriction

The Journal of Physiology, EarlyView.
Abstract figure legend Fetal growth restriction (FGR) is a common pregnancy complication associated with long‐term neurodevelopmental impairments. Using the reduced uterine perfusion pressure (RUPP) rat model of placental insufficiency‐induced FGR, this study demonstrates that FGR leads to persistent anatomical, histological and behavioural ...
Judit Alhama‐Riba, Caroline G. M. de Theije, Valentina Salvi, Dominique Viveen, Sebastiaan W. T. Corstjens, Marijke. E. J. Achterberg, Yohan van de Looij, Freek E. Hoebeek, Cora H. A. Nijboer   +8 more
wiley   +1 more source

Longitudinal Study of Frailty Phenotype in Relation to Chronic Kidney Disease Incidence

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 3, June 2026.
ABSTRACT Background The longitudinal relationship between frailty phenotype and CKD development, and the modifying role of genetic CKD risk in this association, remains unclear. Research on simple, noninvasive and quantifiable CKD prediction models incorporating frailty is limited.
Yong‐Xiang Ruan, Da‐Chuan Guo, Wen‐Hao Liu, Jia‐Man Ou, Qi Guo, Jing‐Wei Gao, Yang‐Wei Cai, Mao‐Xiong Wu, Xiao‐Tian Liang, Jie‐Wen Cai, Pin‐Ming Liu, Jing‐Feng Wang, Hai‐Feng Zhang, Yang‐Xin Chen   +13 more
wiley   +1 more source

Hyperaldosteronism in Mice Lacking the Distal Polybasic Tract of the γ‐Subunit of the Epithelial Sodium Channel During Sodium Restriction

Acta Physiologica, Volume 242, Issue 6, June 2026.
ABSTRACT Aims The epithelial sodium channel ENaC consists of the subunits α, β, and γ and is activated at an individual channel level by proteolytic processing. Murine γENaC contains a distal polybasic tract 186RKRK mediating proteolytic ENaC activation by serine proteases in vitro.
Daniel Essigke, M. Zaher Kalo, Matthias Wörn, Xia‐Qing Li, Bernhard N. Bohnert, Anja Schork, Andreas L. Birkenfeld, Thomas Ott, Ferruh Artunc   +8 more
wiley   +1 more source

Risk Stratification of Chronic Kidney Disease in Adults Using Noninvasive Fibrosis Tests Based on the American Diabetes Association Algorithm

Diabetes, Obesity and Metabolism, Volume 28, Issue 6, Page 5240-5251, June 2026.
ABSTRACT Aims Although the American Diabetes Association (ADA) recently established a diagnostic algorithm for the early detection of liver fibrosis among high‐risk individuals, its implications for chronic kidney disease (CKD) risk stratification remain unclear.
Chan‐Young Jung, Hye Won Lee, Jung Il Lee, Han Ah Lee, Seung Up Kim   +4 more
wiley   +1 more source

Basroparib inhibits YAP‐driven cancers by stabilizing angiomotin

Molecular Oncology, Volume 20, Issue 5, Page 1284-1298, May 2026.
Basroparib, a selective tankyrase inhibitor, suppresses Wnt signaling and attenuates YAP‐driven oncogenic programs by stabilizing angiomotin. It promotes AMOT–YAP complex formation, enforces cytoplasmic YAP sequestration, inhibits YAP/TEAD transcription, and sensitizes YAP‐active cancers, including KRAS‐mutant colorectal cancer, to MEK inhibition.
Young‐Ju Kwon, Dong Young Kim, Yuna Kim, Uk‐Il Kim, Jae‐Sung Kim   +4 more
wiley   +1 more source

Integrative Analyses Identify a cGAS‐STING Pathway‐Driven Signature With Context‐Dependent Roles in Systemic Lupus Erythematosus

Advanced Science, Volume 13, Issue 25, 4 May 2026.
Zhang et al. identify M7core, a critical cGAS‐STING pathway‐driven gene signature that is activated in most lupus patients’ blood and links to lupus disease severity, lymphopenia, and lupus nephritis. They further reveal the diagnostic and pathogenic characteristics of M7core and emphasize the importance of assessing pathway activity before initiating ...
Lele Zhang, Ming‐Ju Amy Lyu, Ze Hong, Jing Sun, Lan Guo, Jiameng Hu, Munire Maimaiti, Chenhui Li, Jinyi Song, Xiang Zhang, Huansha Yu, Chen Wang, Xuan Wang, Haiyang Hu   +13 more
wiley   +1 more source

4-Phenylbutyric Acid Treatment Reduces Low-Molecular-Weight Proteinuria in a Clcn5 Knock-in Mouse Model for Dent Disease-1. [PDF]

Int J Mol Sci
Perdomo-Ramírez A, Ramos-Trujillo E, Machado JD, García-Nieto V, Mura-Escorche G, Claverie-Martin F, RenalTube Group.   +6 more
europepmc   +1 more source

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1091-1097, May 2026.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source